Mutagenetix > Incidental Mutation

Incidental Mutation 'R8698:Lrp2'

668814

Institutional Source

Beutler Lab

Gene Symbol

Lrp2

Ensembl Gene

ENSMUSG00000027070

Gene Name

low density lipoprotein receptor-related protein 2

Synonyms

Gp330, D230004K18Rik, b2b1625.2Clo, Megalin

MMRRC Submission

068552-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69424340-69586065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69448239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 3923 (R3923S)

Ref Sequence

ENSEMBL: ENSMUSP00000079752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080953]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080953
AA Change: R3923S

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079752
Gene: ENSMUSG00000027070
AA Change: R3923S

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
LDLa	27	64	5.63e-13	SMART
LDLa	66	105	2.25e-12	SMART
EGF	107	143	2.59e1	SMART
LDLa	107	144	9.29e-14	SMART
LDLa	146	181	6.18e-10	SMART
LDLa	182	219	1.08e-14	SMART
LDLa	221	258	1.05e-12	SMART
LDLa	264	302	1.66e-10	SMART
EGF	310	346	3.23e0	SMART
EGF	350	385	2.32e-1	SMART
LY	414	457	3.88e-3	SMART
LY	458	500	1.17e-6	SMART
LY	501	547	5.96e-13	SMART
LY	548	590	1.94e-12	SMART
LY	591	634	2.66e0	SMART
EGF	661	704	7.76e-3	SMART
LY	732	774	1.76e0	SMART
LY	775	817	3.64e-8	SMART
LY	818	860	1.11e-3	SMART
LY	861	903	2.11e-13	SMART
LY	905	946	9.33e-1	SMART
EGF	972	1013	1.73e0	SMART
LDLa	1024	1061	1.05e-12	SMART
LDLa	1065	1103	4.65e-14	SMART
LDLa	1109	1146	3.63e-16	SMART
LDLa	1149	1186	5.5e-16	SMART
LDLa	1187	1225	1.43e-14	SMART
LDLa	1230	1269	2.1e-12	SMART
LDLa	1271	1308	3.63e-16	SMART
LDLa	1312	1351	4.69e-10	SMART
EGF	1353	1390	9.7e-4	SMART
EGF_CA	1391	1430	6.54e-10	SMART
LY	1457	1501	1.43e-1	SMART
LY	1502	1544	2e-14	SMART
LY	1545	1590	3.03e-14	SMART
LY	1591	1633	5.48e-12	SMART
LY	1635	1677	1.18e-2	SMART
EGF	1704	1742	5.2e-4	SMART
LY	1771	1812	1.68e1	SMART
LY	1813	1856	1.91e-2	SMART
LY	1859	1911	1.88e-10	SMART
LY	1912	1954	7.69e-7	SMART
LY	1955	1994	3e1	SMART
EGF	2022	2060	1.18e-2	SMART
LY	2088	2135	1.14e1	SMART
LY	2136	2182	2.11e-4	SMART
LY	2183	2226	2.22e-12	SMART
LY	2227	2269	1.24e-10	SMART
EGF	2346	2384	2.07e1	SMART
LY	2459	2501	9.91e-10	SMART
LY	2503	2543	1.48e-8	SMART
LY	2544	2586	6.85e-13	SMART
LY	2587	2627	8.13e-1	SMART
EGF_like	2655	2694	3.5e1	SMART
LDLa	2700	2739	2.86e-14	SMART
LDLa	2741	2778	8.09e-14	SMART
LDLa	2780	2820	3.19e-12	SMART
LDLa	2822	2862	6.94e-13	SMART
LDLa	2864	2903	9.29e-14	SMART
LDLa	2907	2947	4.79e-16	SMART
LDLa	2949	2992	8.41e-12	SMART
LDLa	2994	3031	1.08e-14	SMART
LDLa	3033	3072	1.83e-12	SMART
LDLa	3076	3113	1.16e-14	SMART
EGF	3115	3153	8.57e-5	SMART
EGF_CA	3154	3194	3.56e-11	SMART
LY	3221	3263	9.77e-9	SMART
LY	3264	3306	1.22e-9	SMART
LY	3312	3358	5.44e-7	SMART
LY	3359	3401	1.83e-13	SMART
LY	3402	3443	1.41e-5	SMART
EGF	3470	3511	8.91e-3	SMART
LDLa	3513	3552	1.79e-15	SMART
LDLa	3554	3593	9.89e-9	SMART
LDLa	3595	3634	3.07e-14	SMART
LDLa	3636	3675	3.34e-15	SMART
LDLa	3679	3718	1.39e-12	SMART
LDLa	3720	3758	3.83e-15	SMART
LDLa	3760	3797	7.15e-15	SMART
LDLa	3799	3836	2.86e-14	SMART
LDLa	3843	3882	2.38e-11	SMART
LDLa	3884	3924	3.66e-12	SMART
LDLa	3929	3966	1.93e-11	SMART
EGF	3971	4008	6.3e-3	SMART
EGF_CA	4009	4050	1.36e-7	SMART
low complexity region	4072	4084	N/A	INTRINSIC
LY	4136	4178	6.2e-11	SMART
LY	4179	4222	4.32e-10	SMART
LY	4223	4266	3.78e-15	SMART
LY	4267	4306	4.53e1	SMART
EGF	4335	4367	3.46e0	SMART
EGF	4368	4413	1.53e-1	SMART
transmembrane domain	4425	4447	N/A	INTRINSIC
low complexity region	4454	4472	N/A	INTRINSIC
low complexity region	4616	4636	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,338,815		probably benign	Het
Adamtsl1	A	G	4: 86,388,477	N1384S	probably benign	Het
Adgre1	T	C	17: 57,402,003	S65P	probably benign	Het
Adgrl4	G	T	3: 151,497,875	C124F	probably damaging	Het
Aldh1b1	G	A	4: 45,802,942	G160D	probably damaging	Het
Alpi	T	G	1: 87,100,486	D205A	probably damaging	Het
AW146154	C	A	7: 41,480,510	R394L	probably benign	Het
Bcl10	G	A	3: 145,933,267	M221I	probably benign	Het
Brpf3	G	A	17: 28,818,462	R768H	probably damaging	Het
Cad	G	T	5: 31,077,475	R2116L	probably benign	Het
Cand2	G	T	6: 115,786,891	R258L	probably damaging	Het
Car4	A	T	11: 84,964,183	N119I	probably benign	Het
Carmil1	C	T	13: 24,036,246	G1165D	probably damaging	Het
Ccdc66	T	C	14: 27,490,690	T403A	probably benign	Het
Cdon	T	G	9: 35,486,973		probably null	Het
Cemip	T	C	7: 83,958,582	I739V	probably damaging	Het
Cep85l	A	G	10: 53,358,105	I59T	probably damaging	Het
Clec4f	A	T	6: 83,653,285	V97D	probably benign	Het
Cnot6l	A	G	5: 96,077,290	C515R	probably damaging	Het
Cntnap2	G	A	6: 47,049,222	G935D	probably damaging	Het
Cntrl	A	G	2: 35,133,962	H553R	probably damaging	Het
Cops3	A	G	11: 59,818,060	S423P	probably damaging	Het
Cox15	C	T	19: 43,751,509	R39H	probably benign	Het
Ctnna2	A	G	6: 77,653,117	V131A	probably benign	Het
Dcst2	T	A	3: 89,368,737	F392I	probably benign	Het
Decr1	A	G	4: 15,922,483		probably null	Het
Dennd3	A	C	15: 73,522,305	T60P	possibly damaging	Het
Dmxl2	T	C	9: 54,374,669	N2859S	probably benign	Het
Dnah12	A	T	14: 26,707,263	I280F	probably benign	Het
Dnah8	A	C	17: 30,875,035	D4701A	probably damaging	Het
Dyrk1a	C	A	16: 94,686,555	H541Q	possibly damaging	Het
Eml4	T	C	17: 83,477,916	S906P	probably benign	Het
Fam129c	T	A	8: 71,607,515	I93N	unknown	Het
Fam169a	G	T	13: 97,107,070	V203F	probably damaging	Het
Fam69a	A	T	5: 107,909,910	F261I	probably damaging	Het
Fmn1	C	T	2: 113,429,807	L682F	unknown	Het
Gli2	T	C	1: 118,842,157	Y555C	probably damaging	Het
Gm3278	A	G	14: 4,894,467	Y130C	possibly damaging	Het
Gm8237	T	A	14: 5,863,554	Y37F	probably damaging	Het
Golga4	T	G	9: 118,555,961	L717R	probably damaging	Het
Gtpbp4	C	T	13: 8,974,213	R568H	probably benign	Het
Il1f10	A	G	2: 24,293,185	N47S	probably damaging	Het
Itga6	A	G	2: 71,843,274	H884R	probably benign	Het
Kdm1a	T	C	4: 136,559,207	K482R	probably benign	Het
Klk12	T	C	7: 43,769,689	V26A	probably benign	Het
Lrrk2	A	G	15: 91,752,197	D1458G	probably benign	Het
Mapre2	T	A	18: 23,878,033	S233T	probably benign	Het
Mki67	T	C	7: 135,695,208	D2699G	possibly damaging	Het
Mthfr	T	A	4: 148,044,490	Y214*	probably null	Het
Ncoa6	A	T	2: 155,415,121	M834K	possibly damaging	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Olfr1535	G	A	13: 21,555,720	L101F	probably damaging	Het
Olfr344	T	C	2: 36,568,903	Y102H	possibly damaging	Het
Olfr698	A	T	7: 106,753,364	V8E	probably benign	Het
P2ry14	A	G	3: 59,115,175	V288A	possibly damaging	Het
Pde6b	G	T	5: 108,428,239	S730I	possibly damaging	Het
Pdpk1	A	T	17: 24,079,568	V496D	probably damaging	Het
Plekho2	A	T	9: 65,556,272	L432M	probably damaging	Het
Ppa2	T	C	3: 133,376,601	L151P	unknown	Het
Ppp2r3c	G	A	12: 55,281,714	T422I	probably benign	Het
Prelid3a	T	C	18: 67,477,052	S151P	probably damaging	Het
Rad21l	G	A	2: 151,645,453	P537L	probably damaging	Het
Sacs	T	A	14: 61,213,353	S4283T	probably benign	Het
Samd9l	A	T	6: 3,373,843	D1139E	probably benign	Het
Scn9a	G	T	2: 66,536,284	H718Q	probably benign	Het
Slc1a3	A	T	15: 8,639,152	I443N	probably damaging	Het
Slc22a6	A	G	19: 8,623,525	M361V	probably benign	Het
Slc8a2	A	G	7: 16,157,207	Y724C	probably damaging	Het
Slf1	A	T	13: 77,049,165	S777T	possibly damaging	Het
Sltm	T	C	9: 70,587,070	S901P	probably benign	Het
Smc1b	A	T	15: 85,112,846	H524Q	probably benign	Het
Spast	T	C	17: 74,359,346	S225P	probably benign	Het
Srsf12	C	T	4: 33,231,246	R252W	probably damaging	Het
Syne1	A	G	10: 5,229,229	L4415P	probably damaging	Het
Tmem117	A	T	15: 94,638,109	Y8F	probably benign	Het
Tmem241	T	C	18: 12,064,231	D180G	possibly damaging	Het
Tomm40	C	T	7: 19,710,965	V164I	probably benign	Het
Ttc41	T	C	10: 86,712,977	Y12H	probably benign	Het
Twnk	T	C	19: 45,007,860	V244A	probably benign	Het
Ugt1a8	T	C	1: 88,088,230	S122P	probably damaging	Het
Vmn1r78	A	G	7: 12,152,612	K50R	probably benign	Het
Vmn2r10	A	G	5: 109,003,524	F75L	probably benign	Het
Wbp4	G	T	14: 79,470,133	Y179*	probably null	Het
Zfp106	A	G	2: 120,524,119		probably null	Het
Zfp974	A	T	7: 27,910,936	C455S	possibly damaging	Het

Other mutations in Lrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Lrp2	APN	2	69507779	missense	probably damaging	1.00
IGL00594:Lrp2	APN	2	69486280	missense	probably benign	0.00
IGL00782:Lrp2	APN	2	69501645	missense	probably benign	0.14
IGL00821:Lrp2	APN	2	69459516	missense	probably damaging	1.00
IGL00897:Lrp2	APN	2	69521881	missense	possibly damaging	0.86
IGL01065:Lrp2	APN	2	69469436	missense	possibly damaging	0.94
IGL01087:Lrp2	APN	2	69524073	missense	probably damaging	1.00
IGL01095:Lrp2	APN	2	69492432	nonsense	probably null
IGL01131:Lrp2	APN	2	69499239	missense	probably damaging	1.00
IGL01350:Lrp2	APN	2	69510984	missense	probably damaging	0.96
IGL01352:Lrp2	APN	2	69503526	missense	possibly damaging	0.77
IGL01358:Lrp2	APN	2	69552470	splice site	probably benign
IGL01375:Lrp2	APN	2	69478566	splice site	probably benign
IGL01384:Lrp2	APN	2	69483502	missense	probably damaging	1.00
IGL01384:Lrp2	APN	2	69453812	missense	probably null	1.00
IGL01411:Lrp2	APN	2	69482267	missense	probably damaging	1.00
IGL01418:Lrp2	APN	2	69525286	missense	probably benign
IGL01444:Lrp2	APN	2	69443716	missense	possibly damaging	0.94
IGL01464:Lrp2	APN	2	69472439	missense	probably damaging	0.98
IGL01528:Lrp2	APN	2	69492460	missense	probably damaging	1.00
IGL01663:Lrp2	APN	2	69428706	missense	probably benign
IGL01761:Lrp2	APN	2	69481235	missense	possibly damaging	0.85
IGL01780:Lrp2	APN	2	69486184	missense	possibly damaging	0.66
IGL01994:Lrp2	APN	2	69483601	missense	probably benign	0.08
IGL02015:Lrp2	APN	2	69527578	missense	probably benign	0.00
IGL02104:Lrp2	APN	2	69510418	missense	probably damaging	1.00
IGL02132:Lrp2	APN	2	69537616	missense	probably benign	0.01
IGL02134:Lrp2	APN	2	69513379	critical splice acceptor site	probably null
IGL02197:Lrp2	APN	2	69466880	missense	probably benign	0.01
IGL02212:Lrp2	APN	2	69451264	missense	probably benign	0.00
IGL02240:Lrp2	APN	2	69535046	missense	probably benign
IGL02248:Lrp2	APN	2	69482808	missense	probably damaging	1.00
IGL02369:Lrp2	APN	2	69464636	missense	probably damaging	1.00
IGL02416:Lrp2	APN	2	69469633	missense	probably damaging	1.00
IGL02417:Lrp2	APN	2	69461305	missense	probably damaging	1.00
IGL02458:Lrp2	APN	2	69521773	missense	probably damaging	0.97
IGL02479:Lrp2	APN	2	69464801	splice site	probably benign
IGL02508:Lrp2	APN	2	69503430	missense	probably benign	0.04
IGL02751:Lrp2	APN	2	69533462	missense	possibly damaging	0.56
IGL02814:Lrp2	APN	2	69506736	missense	probably damaging	1.00
IGL02867:Lrp2	APN	2	69552450	missense	possibly damaging	0.67
IGL02889:Lrp2	APN	2	69552450	missense	possibly damaging	0.67
IGL02943:Lrp2	APN	2	69455510	missense	possibly damaging	0.86
IGL02948:Lrp2	APN	2	69487837	missense	probably damaging	1.00
IGL02960:Lrp2	APN	2	69455453	splice site	probably benign
IGL02990:Lrp2	APN	2	69441396	missense	possibly damaging	0.56
IGL03027:Lrp2	APN	2	69537553	missense	probably benign	0.43
IGL03038:Lrp2	APN	2	69475464	missense	probably damaging	0.99
IGL03064:Lrp2	APN	2	69483133	missense	probably damaging	0.98
IGL03107:Lrp2	APN	2	69454833	missense	probably damaging	1.00
IGL03141:Lrp2	APN	2	69477026	missense	probably damaging	0.99
IGL03154:Lrp2	APN	2	69549042	missense	probably damaging	1.00
IGL03155:Lrp2	APN	2	69455452	splice site	probably benign
IGL03163:Lrp2	APN	2	69501526	nonsense	probably null
IGL03164:Lrp2	APN	2	69464699	missense	probably damaging	1.00
IGL03169:Lrp2	APN	2	69523194	missense	probably damaging	1.00
IGL03174:Lrp2	APN	2	69466265	missense	probably damaging	1.00
IGL03189:Lrp2	APN	2	69438478	splice site	probably benign
IGL03288:Lrp2	APN	2	69426039	missense	probably benign	0.02
IGL03350:Lrp2	APN	2	69438453	missense	probably damaging	1.00
IGL03378:Lrp2	APN	2	69431152	missense	probably damaging	1.00
casual	UTSW	2	69499263	missense	probably benign
nonchalant	UTSW	2	69489329	missense	probably damaging	1.00
Presto	UTSW	2	69459531	nonsense	probably null
relaxed	UTSW	2	69535005	missense	probably damaging	1.00
unguarded	UTSW	2	69465758	missense	probably benign	0.00
Unintended	UTSW	2	69518443	missense	probably damaging	1.00
BB009:Lrp2	UTSW	2	69426027	missense	probably benign	0.00
BB019:Lrp2	UTSW	2	69426027	missense	probably benign	0.00
IGL02835:Lrp2	UTSW	2	69505304	missense	probably damaging	1.00
IGL03055:Lrp2	UTSW	2	69458448	missense	probably damaging	1.00
PIT4362001:Lrp2	UTSW	2	69537538	missense	probably damaging	1.00
PIT4504001:Lrp2	UTSW	2	69475403	missense	probably damaging	1.00
R0008:Lrp2	UTSW	2	69516551	missense	probably benign	0.42
R0008:Lrp2	UTSW	2	69516551	missense	probably benign	0.42
R0044:Lrp2	UTSW	2	69527555	missense	probably benign	0.01
R0044:Lrp2	UTSW	2	69527555	missense	probably damaging	0.96
R0048:Lrp2	UTSW	2	69465627	missense	probably damaging	1.00
R0098:Lrp2	UTSW	2	69475412	missense	probably damaging	1.00
R0098:Lrp2	UTSW	2	69475412	missense	probably damaging	1.00
R0103:Lrp2	UTSW	2	69477040	missense	probably benign
R0167:Lrp2	UTSW	2	69425658	missense	possibly damaging	0.95
R0226:Lrp2	UTSW	2	69537563	missense	probably null	1.00
R0243:Lrp2	UTSW	2	69428630	missense	probably benign	0.00
R0308:Lrp2	UTSW	2	69482982	splice site	probably benign
R0323:Lrp2	UTSW	2	69469639	missense	probably damaging	1.00
R0372:Lrp2	UTSW	2	69535043	missense	probably benign	0.10
R0374:Lrp2	UTSW	2	69430307	missense	probably damaging	1.00
R0391:Lrp2	UTSW	2	69456858	missense	probably damaging	0.99
R0391:Lrp2	UTSW	2	69460337	splice site	probably benign
R0395:Lrp2	UTSW	2	69433077	missense	possibly damaging	0.89
R0401:Lrp2	UTSW	2	69479148	missense	probably damaging	0.98
R0471:Lrp2	UTSW	2	69525234	missense	probably damaging	0.97
R0483:Lrp2	UTSW	2	69507801	missense	probably damaging	0.99
R0502:Lrp2	UTSW	2	69511017	missense	probably damaging	1.00
R0542:Lrp2	UTSW	2	69428654	missense	probably benign	0.00
R0544:Lrp2	UTSW	2	69491931	missense	probably benign	0.18
R0548:Lrp2	UTSW	2	69537638	splice site	probably benign
R0593:Lrp2	UTSW	2	69467006	missense	probably benign
R0608:Lrp2	UTSW	2	69486243	missense	probably benign	0.02
R0633:Lrp2	UTSW	2	69448120	missense	probably damaging	1.00
R0691:Lrp2	UTSW	2	69451380	missense	probably benign	0.19
R0718:Lrp2	UTSW	2	69510948	missense	probably damaging	1.00
R0737:Lrp2	UTSW	2	69448169	missense	probably damaging	0.96
R0771:Lrp2	UTSW	2	69507990	missense	probably damaging	1.00
R0784:Lrp2	UTSW	2	69518365	missense	probably benign	0.32
R0885:Lrp2	UTSW	2	69482353	missense	possibly damaging	0.75
R0947:Lrp2	UTSW	2	69487838	missense	probably damaging	1.00
R1235:Lrp2	UTSW	2	69524036	missense	probably damaging	1.00
R1293:Lrp2	UTSW	2	69523302	splice site	probably null
R1301:Lrp2	UTSW	2	69428604	missense	probably damaging	0.98
R1387:Lrp2	UTSW	2	69456918	missense	probably damaging	1.00
R1459:Lrp2	UTSW	2	69460477	missense	probably damaging	1.00
R1459:Lrp2	UTSW	2	69483394	missense	probably damaging	0.99
R1529:Lrp2	UTSW	2	69523182	missense	probably damaging	1.00
R1543:Lrp2	UTSW	2	69500730	missense	probably damaging	1.00
R1546:Lrp2	UTSW	2	69502610	missense	probably damaging	1.00
R1550:Lrp2	UTSW	2	69502661	missense	possibly damaging	0.74
R1590:Lrp2	UTSW	2	69466763	critical splice donor site	probably null
R1689:Lrp2	UTSW	2	69503529	missense	probably benign	0.09
R1693:Lrp2	UTSW	2	69510418	missense	probably damaging	1.00
R1753:Lrp2	UTSW	2	69496489	missense	possibly damaging	0.87
R1799:Lrp2	UTSW	2	69503530	missense	probably benign	0.04
R1834:Lrp2	UTSW	2	69466880	missense	probably benign	0.01
R1921:Lrp2	UTSW	2	69523287	missense	probably damaging	1.00
R2000:Lrp2	UTSW	2	69467090	missense	probably damaging	1.00
R2077:Lrp2	UTSW	2	69507843	missense	probably damaging	1.00
R2092:Lrp2	UTSW	2	69536021	missense	probably benign	0.25
R2093:Lrp2	UTSW	2	69536021	missense	probably benign	0.25
R2108:Lrp2	UTSW	2	69506624	missense	possibly damaging	0.75
R2117:Lrp2	UTSW	2	69483385	missense	probably benign	0.05
R2122:Lrp2	UTSW	2	69483707	missense	probably damaging	1.00
R2134:Lrp2	UTSW	2	69511067	missense	probably damaging	1.00
R2207:Lrp2	UTSW	2	69467028	missense	possibly damaging	0.94
R2248:Lrp2	UTSW	2	69511010	missense	probably damaging	1.00
R2264:Lrp2	UTSW	2	69482366	missense	possibly damaging	0.88
R2316:Lrp2	UTSW	2	69491847	missense	possibly damaging	0.75
R2513:Lrp2	UTSW	2	69506374	splice site	probably null
R2984:Lrp2	UTSW	2	69425814	splice site	probably null
R3085:Lrp2	UTSW	2	69467135	missense	probably benign	0.05
R3103:Lrp2	UTSW	2	69431984	missense	probably benign	0.00
R3727:Lrp2	UTSW	2	69510429	missense	probably damaging	1.00
R3730:Lrp2	UTSW	2	69464579	missense	probably damaging	0.99
R3730:Lrp2	UTSW	2	69534907	critical splice donor site	probably null
R3731:Lrp2	UTSW	2	69464579	missense	probably damaging	0.99
R3731:Lrp2	UTSW	2	69534907	critical splice donor site	probably null
R3764:Lrp2	UTSW	2	69496336	missense	probably damaging	1.00
R3768:Lrp2	UTSW	2	69505105	missense	probably benign	0.34
R3778:Lrp2	UTSW	2	69509204	missense	probably benign	0.00
R3808:Lrp2	UTSW	2	69501548	missense	probably damaging	1.00
R3809:Lrp2	UTSW	2	69501548	missense	probably damaging	1.00
R3813:Lrp2	UTSW	2	69464579	missense	probably damaging	0.99
R3828:Lrp2	UTSW	2	69426012	missense	probably benign	0.03
R3852:Lrp2	UTSW	2	69537565	missense	probably damaging	0.96
R3877:Lrp2	UTSW	2	69459472	critical splice donor site	probably null
R3877:Lrp2	UTSW	2	69549047	missense	probably damaging	1.00
R3922:Lrp2	UTSW	2	69506376	missense	probably benign
R4081:Lrp2	UTSW	2	69513273	missense	probably damaging	0.98
R4082:Lrp2	UTSW	2	69513273	missense	probably damaging	0.98
R4118:Lrp2	UTSW	2	69430262	critical splice donor site	probably null
R4193:Lrp2	UTSW	2	69467143	missense	probably damaging	1.00
R4284:Lrp2	UTSW	2	69480094	missense	possibly damaging	0.95
R4322:Lrp2	UTSW	2	69425991	nonsense	probably null
R4352:Lrp2	UTSW	2	69432182	critical splice donor site	probably null
R4407:Lrp2	UTSW	2	69502517	missense	probably damaging	1.00
R4408:Lrp2	UTSW	2	69467169	missense	probably benign	0.09
R4416:Lrp2	UTSW	2	69527231	missense	probably benign	0.18
R4426:Lrp2	UTSW	2	69506348	missense	probably benign	0.00
R4510:Lrp2	UTSW	2	69480062	missense	possibly damaging	0.58
R4511:Lrp2	UTSW	2	69480062	missense	possibly damaging	0.58
R4553:Lrp2	UTSW	2	69513285	missense	probably benign	0.13
R4591:Lrp2	UTSW	2	69536075	missense	probably damaging	1.00
R4612:Lrp2	UTSW	2	69458427	nonsense	probably null
R4622:Lrp2	UTSW	2	69460349	missense	possibly damaging	0.87
R4632:Lrp2	UTSW	2	69489129	splice site	probably null
R4633:Lrp2	UTSW	2	69461417	missense	probably benign	0.16
R4636:Lrp2	UTSW	2	69436639	missense	possibly damaging	0.93
R4657:Lrp2	UTSW	2	69466993	missense	probably damaging	1.00
R4667:Lrp2	UTSW	2	69489298	missense	probably benign	0.02
R4712:Lrp2	UTSW	2	69506551	missense	probably damaging	1.00
R4713:Lrp2	UTSW	2	69487966	missense	probably damaging	1.00
R4720:Lrp2	UTSW	2	69481173	missense	probably damaging	0.99
R4732:Lrp2	UTSW	2	69533555	missense	probably benign
R4733:Lrp2	UTSW	2	69533555	missense	probably benign
R4777:Lrp2	UTSW	2	69482264	missense	probably damaging	1.00
R4779:Lrp2	UTSW	2	69459715	missense	possibly damaging	0.75
R4786:Lrp2	UTSW	2	69537956	missense	probably damaging	1.00
R4842:Lrp2	UTSW	2	69469411	missense	probably benign	0.06
R4845:Lrp2	UTSW	2	69509241	missense	possibly damaging	0.71
R4846:Lrp2	UTSW	2	69479113	missense	probably damaging	1.00
R4938:Lrp2	UTSW	2	69472368	missense	probably damaging	0.98
R4951:Lrp2	UTSW	2	69535988	missense	probably damaging	1.00
R4990:Lrp2	UTSW	2	69481388	missense	probably benign	0.01
R5075:Lrp2	UTSW	2	69465758	missense	probably benign	0.00
R5078:Lrp2	UTSW	2	69501530	missense	possibly damaging	0.93
R5102:Lrp2	UTSW	2	69489158	missense	probably damaging	0.98
R5124:Lrp2	UTSW	2	69501490	missense	probably damaging	0.97
R5131:Lrp2	UTSW	2	69430342	missense	possibly damaging	0.74
R5141:Lrp2	UTSW	2	69552349	splice site	probably null
R5223:Lrp2	UTSW	2	69524053	missense	probably damaging	0.99
R5236:Lrp2	UTSW	2	69456819	splice site	probably null
R5267:Lrp2	UTSW	2	69548978	missense	possibly damaging	0.83
R5290:Lrp2	UTSW	2	69513354	missense	probably damaging	1.00
R5333:Lrp2	UTSW	2	69525228	missense	probably benign	0.01
R5355:Lrp2	UTSW	2	69454838	nonsense	probably null
R5356:Lrp2	UTSW	2	69464708	missense	possibly damaging	0.74
R5369:Lrp2	UTSW	2	69459560	missense	probably benign	0.04
R5486:Lrp2	UTSW	2	69437465	missense	probably benign	0.04
R5554:Lrp2	UTSW	2	69552424	missense	possibly damaging	0.92
R5584:Lrp2	UTSW	2	69451288	missense	probably damaging	1.00
R5585:Lrp2	UTSW	2	69464624	missense	possibly damaging	0.77
R5587:Lrp2	UTSW	2	69499263	missense	probably benign
R5605:Lrp2	UTSW	2	69523299	missense	probably damaging	1.00
R5637:Lrp2	UTSW	2	69472418	missense	probably damaging	1.00
R5647:Lrp2	UTSW	2	69519914	missense	probably null	0.80
R5686:Lrp2	UTSW	2	69511061	missense	possibly damaging	0.88
R5691:Lrp2	UTSW	2	69502553	missense	probably damaging	1.00
R5724:Lrp2	UTSW	2	69451382	missense	probably damaging	0.99
R5726:Lrp2	UTSW	2	69509147	missense	probably damaging	1.00
R5743:Lrp2	UTSW	2	69466877	missense	probably damaging	1.00
R5777:Lrp2	UTSW	2	69455525	missense	probably damaging	1.00
R5841:Lrp2	UTSW	2	69480153	missense	probably benign	0.00
R5892:Lrp2	UTSW	2	69442776	missense	probably benign
R5951:Lrp2	UTSW	2	69496323	splice site	probably null
R5974:Lrp2	UTSW	2	69459548	missense	probably damaging	1.00
R5980:Lrp2	UTSW	2	69535005	missense	probably damaging	1.00
R6046:Lrp2	UTSW	2	69506754	missense	probably damaging	1.00
R6113:Lrp2	UTSW	2	69483557	missense	possibly damaging	0.76
R6146:Lrp2	UTSW	2	69511001	missense	probably benign	0.00
R6177:Lrp2	UTSW	2	69510419	frame shift	probably null
R6180:Lrp2	UTSW	2	69503524	missense	possibly damaging	0.85
R6219:Lrp2	UTSW	2	69469478	missense	probably damaging	1.00
R6228:Lrp2	UTSW	2	69482366	missense	possibly damaging	0.88
R6265:Lrp2	UTSW	2	69466340	missense	probably damaging	1.00
R6312:Lrp2	UTSW	2	69436681	missense	probably damaging	1.00
R6337:Lrp2	UTSW	2	69438467	missense	probably damaging	1.00
R6376:Lrp2	UTSW	2	69483443	missense	probably benign	0.02
R6385:Lrp2	UTSW	2	69495784	missense	probably benign	0.22
R6429:Lrp2	UTSW	2	69461287	missense	probably damaging	1.00
R6458:Lrp2	UTSW	2	69505156	missense	probably benign	0.00
R6524:Lrp2	UTSW	2	69436639	missense	possibly damaging	0.93
R6555:Lrp2	UTSW	2	69509303	missense	probably benign	0.00
R6594:Lrp2	UTSW	2	69439923	missense	possibly damaging	0.58
R6599:Lrp2	UTSW	2	69469405	missense	probably damaging	1.00
R6655:Lrp2	UTSW	2	69453858	missense	probably benign	0.01
R6718:Lrp2	UTSW	2	69483780	missense	probably benign	0.09
R6736:Lrp2	UTSW	2	69448211	missense	probably benign	0.02
R6738:Lrp2	UTSW	2	69458488	missense	probably damaging	0.97
R6799:Lrp2	UTSW	2	69483904	missense	probably damaging	1.00
R6846:Lrp2	UTSW	2	69518443	missense	probably damaging	1.00
R6856:Lrp2	UTSW	2	69513268	missense	probably damaging	1.00
R6861:Lrp2	UTSW	2	69513377	missense	possibly damaging	0.77
R6888:Lrp2	UTSW	2	69524141	missense	probably damaging	0.98
R6897:Lrp2	UTSW	2	69510502	missense	probably benign
R6902:Lrp2	UTSW	2	69459503	missense	probably damaging	1.00
R6908:Lrp2	UTSW	2	69472365	missense	probably damaging	1.00
R6918:Lrp2	UTSW	2	69489305	missense	probably damaging	1.00
R6989:Lrp2	UTSW	2	69472455	missense	probably damaging	1.00
R7022:Lrp2	UTSW	2	69483208	missense	probably damaging	1.00
R7025:Lrp2	UTSW	2	69483028	missense	possibly damaging	0.90
R7026:Lrp2	UTSW	2	69521787	missense	probably damaging	0.97
R7138:Lrp2	UTSW	2	69465745	missense	possibly damaging	0.94
R7145:Lrp2	UTSW	2	69454808	critical splice donor site	probably null
R7150:Lrp2	UTSW	2	69488051	missense	probably damaging	0.99
R7165:Lrp2	UTSW	2	69506573	missense	probably damaging	0.99
R7174:Lrp2	UTSW	2	69433072	missense	probably benign	0.11
R7204:Lrp2	UTSW	2	69472533	missense	probably benign	0.25
R7275:Lrp2	UTSW	2	69459531	nonsense	probably null
R7278:Lrp2	UTSW	2	69486352	missense	probably damaging	1.00
R7296:Lrp2	UTSW	2	69482381	missense	probably benign	0.04
R7315:Lrp2	UTSW	2	69491822	missense	probably damaging	0.98
R7342:Lrp2	UTSW	2	69479290	missense	possibly damaging	0.95
R7351:Lrp2	UTSW	2	69448142	missense	probably damaging	1.00
R7352:Lrp2	UTSW	2	69472397	missense	probably benign	0.04
R7366:Lrp2	UTSW	2	69483806	missense	probably damaging	1.00
R7373:Lrp2	UTSW	2	69500692	missense	probably damaging	1.00
R7446:Lrp2	UTSW	2	69432213	missense	probably damaging	1.00
R7446:Lrp2	UTSW	2	69459674	missense	probably damaging	0.99
R7451:Lrp2	UTSW	2	69513333	missense	probably damaging	1.00
R7492:Lrp2	UTSW	2	69537581	missense	probably damaging	0.99
R7571:Lrp2	UTSW	2	69516403	missense	probably damaging	1.00
R7638:Lrp2	UTSW	2	69477008	critical splice donor site	probably null
R7664:Lrp2	UTSW	2	69506732	missense	probably damaging	1.00
R7686:Lrp2	UTSW	2	69489237	missense	probably damaging	1.00
R7711:Lrp2	UTSW	2	69479343	critical splice acceptor site	probably null
R7737:Lrp2	UTSW	2	69496438	missense	possibly damaging	0.77
R7763:Lrp2	UTSW	2	69503388	missense	probably damaging	0.99
R7775:Lrp2	UTSW	2	69501539	missense	possibly damaging	0.74
R7824:Lrp2	UTSW	2	69501539	missense	possibly damaging	0.74
R7840:Lrp2	UTSW	2	69464784	missense	probably damaging	0.98
R7878:Lrp2	UTSW	2	69507809	missense	probably damaging	1.00
R7878:Lrp2	UTSW	2	69507810	missense	probably damaging	1.00
R7895:Lrp2	UTSW	2	69458479	missense	probably damaging	0.97
R7898:Lrp2	UTSW	2	69441366	missense	probably benign	0.00
R7912:Lrp2	UTSW	2	69428672	missense	probably benign	0.03
R7923:Lrp2	UTSW	2	69438388	missense	possibly damaging	0.75
R7932:Lrp2	UTSW	2	69426027	missense	probably benign	0.00
R7940:Lrp2	UTSW	2	69432197	missense	possibly damaging	0.91
R7954:Lrp2	UTSW	2	69503523	missense	possibly damaging	0.61
R8007:Lrp2	UTSW	2	69506505	missense	probably benign	0.02
R8084:Lrp2	UTSW	2	69509369	missense	probably damaging	0.97
R8087:Lrp2	UTSW	2	69448129	missense	probably damaging	1.00
R8090:Lrp2	UTSW	2	69464745	missense	possibly damaging	0.94
R8110:Lrp2	UTSW	2	69506453	missense	probably benign
R8129:Lrp2	UTSW	2	69430280	missense	possibly damaging	0.75
R8155:Lrp2	UTSW	2	69482998	missense	possibly damaging	0.74
R8182:Lrp2	UTSW	2	69489329	missense	probably damaging	1.00
R8239:Lrp2	UTSW	2	69481267	nonsense	probably null
R8247:Lrp2	UTSW	2	69431087	missense	possibly damaging	0.76
R8327:Lrp2	UTSW	2	69491924	missense	probably damaging	1.00
R8355:Lrp2	UTSW	2	69516484	missense	probably damaging	0.99
R8404:Lrp2	UTSW	2	69514241	nonsense	probably null
R8427:Lrp2	UTSW	2	69451297	missense	probably damaging	0.97
R8463:Lrp2	UTSW	2	69491906	missense	probably damaging	1.00
R8502:Lrp2	UTSW	2	69514241	nonsense	probably null
R8529:Lrp2	UTSW	2	69500642	missense	probably damaging	0.96
R8673:Lrp2	UTSW	2	69472460	missense	probably damaging	1.00
R8698:Lrp2	UTSW	2	69458423	missense	probably benign	0.37
R8708:Lrp2	UTSW	2	69459613	missense	probably damaging	1.00
R8716:Lrp2	UTSW	2	69443794	missense	probably benign	0.04
R8723:Lrp2	UTSW	2	69486304	missense	probably damaging	1.00
R8787:Lrp2	UTSW	2	69552401	missense	probably damaging	1.00
R8903:Lrp2	UTSW	2	69549038	missense	possibly damaging	0.68
R8944:Lrp2	UTSW	2	69511004	missense	probably damaging	1.00
R9069:Lrp2	UTSW	2	69501652	missense	probably damaging	1.00
R9076:Lrp2	UTSW	2	69519916	missense	probably benign	0.01
R9155:Lrp2	UTSW	2	69461369	nonsense	probably null
R9173:Lrp2	UTSW	2	69469387	missense	probably damaging	1.00
R9254:Lrp2	UTSW	2	69503547	missense	probably benign	0.09
R9256:Lrp2	UTSW	2	69510959	missense	probably benign	0.03
R9291:Lrp2	UTSW	2	69480035	missense	probably damaging	1.00
R9335:Lrp2	UTSW	2	69428639	missense	probably benign	0.01
R9357:Lrp2	UTSW	2	69506573	missense	probably damaging	0.99
R9368:Lrp2	UTSW	2	69527635	missense	probably damaging	0.99
R9453:Lrp2	UTSW	2	69458488	missense	probably damaging	1.00
R9546:Lrp2	UTSW	2	69456821	critical splice donor site	probably null
R9554:Lrp2	UTSW	2	69431153	missense	probably damaging	1.00
R9597:Lrp2	UTSW	2	69430359	missense	probably benign	0.02
R9601:Lrp2	UTSW	2	69459584	missense	probably damaging	1.00
R9623:Lrp2	UTSW	2	69477079	missense	probably benign	0.09
RF016:Lrp2	UTSW	2	69509205	missense	probably benign
X0011:Lrp2	UTSW	2	69519998	missense	probably damaging	1.00
X0023:Lrp2	UTSW	2	69436600	missense	probably damaging	0.99
Z1176:Lrp2	UTSW	2	69480042	missense	possibly damaging	0.66
Z1176:Lrp2	UTSW	2	69507881	missense	possibly damaging	0.88
Z1177:Lrp2	UTSW	2	69451280	missense	probably damaging	1.00
Z1177:Lrp2	UTSW	2	69472453	missense	probably benign	0.03
Z1177:Lrp2	UTSW	2	69496468	missense	probably damaging	1.00
Z1177:Lrp2	UTSW	2	69501641	missense	probably damaging	1.00
Z1177:Lrp2	UTSW	2	69509289	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAAGTCTTCCTCCTACTTAGAGG -3'
(R):5'- GCACATGGGCTTTGGATTGC -3'

Sequencing Primer
(F):5'- TGATCCTTGACGACACAGTG -3'
(R):5'- CTTTAGTCCAAGGGTGACATATGTC -3'

Posted On

2021-04-30