Mutagenetix > Incidental Mutations

Incidental Mutation 'R1496:Lrp1b'

168834

Institutional Source

Beutler Lab

Gene Symbol

Lrp1b

Ensembl Gene

ENSMUSG00000049252

Gene Name

low density lipoprotein-related protein 1B (deleted in tumors)

Synonyms

9630004P12Rik

MMRRC Submission

039547-MU

Accession Numbers

Genbank: NM_053011.2

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40595246-42653624 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42323662 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 46 (V46D)

Ref Sequence

ENSEMBL: ENSMUSP00000145278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052550] [ENSMUST00000203080] [ENSMUST00000204204]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052550
AA Change: V46D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054275
Gene: ENSMUSG00000049252
AA Change: V46D

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	35	46	N/A	INTRINSIC
LDLa	62	102	2.97e-12	SMART
LDLa	107	146	1.31e-8	SMART
EGF	150	185	1.95e1	SMART
EGF_CA	186	225	8.37e-8	SMART
LY	256	300	4.06e1	SMART
LY	304	348	1.15e-5	SMART
LY	349	392	1.17e-11	SMART
LY	393	435	1.12e-8	SMART
LY	436	478	2.21e1	SMART
EGF	505	548	2.45e0	SMART
LY	579	621	1.32e-5	SMART
LY	622	665	1.88e-10	SMART
LY	668	717	1.47e-12	SMART
LY	718	760	5.78e-11	SMART
LY	761	802	1.45e0	SMART
EGF_like	828	865	4.55e1	SMART
LDLa	875	914	7.15e-15	SMART
LDLa	916	955	5.26e-13	SMART
LDLa	957	995	6.13e-14	SMART
LDLa	997	1035	6.47e-13	SMART
LDLa	1036	1075	1.76e-14	SMART
LDLa	1083	1121	2.29e-13	SMART
LDLa	1125	1164	3.36e-11	SMART
LDLa	1166	1206	2.57e-7	SMART
EGF	1206	1244	1.58e-3	SMART
EGF	1248	1284	4.56e0	SMART
LY	1311	1353	4.85e-4	SMART
LY	1358	1400	6.49e-14	SMART
LY	1401	1445	8.18e-11	SMART
LY	1446	1490	4.25e-9	SMART
LY	1492	1534	5.4e-2	SMART
EGF	1561	1601	9.41e-2	SMART
LY	1629	1671	3.03e-5	SMART
LY	1672	1716	1.22e-9	SMART
LY	1718	1756	1.02e-2	SMART
LY	1757	1798	8.25e-7	SMART
EGF	1868	1906	4.03e-1	SMART
LY	1933	1975	1.01e-1	SMART
LY	1976	2018	3.03e-14	SMART
LY	2019	2062	2.16e-10	SMART
LY	2063	2105	4.09e-11	SMART
LY	2107	2149	9.96e0	SMART
EGF	2177	2214	2.13e0	SMART
LY	2292	2334	6.96e-5	SMART
LY	2340	2385	1.07e-5	SMART
LY	2386	2428	1.1e-11	SMART
LY	2429	2470	4.78e-3	SMART
EGF	2498	2535	2.03e1	SMART
LDLa	2540	2580	1.1e-6	SMART
LDLa	2582	2619	1.72e-8	SMART
LDLa	2621	2658	2.45e-13	SMART
LDLa	2669	2707	6.53e-9	SMART
LDLa	2712	2749	7.97e-13	SMART
LDLa	2750	2789	1.22e-8	SMART
LDLa	2791	2832	3.07e-14	SMART
LDLa	2835	2873	7.32e-12	SMART
LDLa	2875	2917	1.85e-8	SMART
LDLa	2921	2958	4.76e-11	SMART
EGF_CA	2957	2998	1.79e-7	SMART
EGF_CA	2999	3039	1.85e-9	SMART
LY	3066	3111	2.58e-8	SMART
LY	3112	3152	1.22e-9	SMART
LY	3153	3196	8.84e-7	SMART
LY	3197	3237	3.22e-9	SMART
LY	3238	3279	1.04e-3	SMART
EGF	3307	3345	7.13e-2	SMART
LDLa	3347	3385	9.29e-14	SMART
LDLa	3387	3424	2.25e-12	SMART
LDLa	3426	3464	5.63e-13	SMART
LDLa	3466	3504	1.07e-13	SMART
LDLa	3506	3543	1.35e-15	SMART
EGF_like	3545	3581	2.8e1	SMART
LDLa	3545	3582	1.49e-12	SMART
LDLa	3583	3620	4.21e-12	SMART
LDLa	3624	3661	4.9e-13	SMART
LDLa	3662	3700	9.58e-16	SMART
LDLa	3704	3743	5.38e-10	SMART
LDLa	3745	3784	1.42e-9	SMART
LDLa	3792	3829	3.66e-12	SMART
EGF	3835	3874	3.71e0	SMART
EGF_CA	3875	3912	6.8e-8	SMART
LY	3987	4033	4.24e0	SMART
LY	4050	4093	4.46e-3	SMART
LY	4094	4136	1.73e-9	SMART
EGF	4206	4239	2.45e0	SMART
EGF	4247	4280	2.48e-1	SMART
EGF	4283	4316	1.49e-4	SMART
EGF	4319	4352	1.69e-3	SMART
EGF	4355	4388	1.18e1	SMART
EGF_like	4391	4423	6.67e1	SMART
EGF	4424	4458	1.61e0	SMART
transmembrane domain	4476	4498	N/A	INTRINSIC
low complexity region	4499	4509	N/A	INTRINSIC
low complexity region	4512	4523	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138700

Predicted Effect

probably damaging
Transcript: ENSMUST00000203080
AA Change: V46D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145278
Gene: ENSMUSG00000049252
AA Change: V46D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LDLa	31	70	1.4e-13	SMART
LDLa	71	109	3e-16	SMART
LDLa	111	149	3.3e-15	SMART
LDLa	150	189	8.4e-17	SMART
LDLa	197	235	1.1e-15	SMART
LDLa	239	278	1.6e-13	SMART
LDLa	280	320	1.2e-9	SMART
EGF	320	358	7.8e-6	SMART
EGF	362	398	2.3e-2	SMART
LY	425	467	2.4e-6	SMART
LY	472	514	3.3e-16	SMART
LY	515	559	4.1e-13	SMART
LY	560	604	2.1e-11	SMART
LY	606	648	2.7e-4	SMART
EGF	675	715	4.6e-4	SMART
LY	743	782	8.1e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204204
AA Change: V46D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145045
Gene: ENSMUSG00000049252
AA Change: V46D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LDLa	31	68	4.3e-11	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted, knock-out(3) Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,310,254		probably benign	Het
4933411K16Rik	T	C	19: 42,053,050	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,448,434	L832Q	probably damaging	Het
Acan	T	A	7: 79,100,804	H1774Q	probably benign	Het
Adss	T	C	1: 177,772,194	T275A	probably benign	Het
Ano5	G	A	7: 51,583,775	R595H	probably damaging	Het
Araf	G	T	X: 20,859,704	R522L	probably damaging	Het
Arhgef28	C	T	13: 97,965,546	V807I	possibly damaging	Het
Bin1	T	C	18: 32,412,704	I103T	probably damaging	Het
C4b	C	T	17: 34,740,021	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,678,035	P1015S	probably benign	Het
Capn1	A	G	19: 6,007,498		probably null	Het
Cep290	A	G	10: 100,538,966	Q1358R	probably damaging	Het
Cfap126	T	C	1: 171,125,817		probably benign	Het
Chn1	T	C	2: 73,679,607		probably benign	Het
Cldn8	T	C	16: 88,562,401	E212G	probably benign	Het
Cpb1	T	C	3: 20,263,532	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,810,347	I138F	probably benign	Het
Dab2ip	G	A	2: 35,718,791	R579H	probably damaging	Het
Dcaf8	T	C	1: 172,193,855	M538T	probably benign	Het
Dhrs4	T	G	14: 55,487,650	L201V	probably damaging	Het
Dnah12	C	T	14: 26,710,248	A407V	probably benign	Het
Elavl3	T	A	9: 22,026,165		probably benign	Het
Elp4	T	C	2: 105,832,161	H88R	probably benign	Het
Ercc3	T	C	18: 32,261,297		probably benign	Het
Eri1	A	G	8: 35,469,181	S329P	possibly damaging	Het
Erich2	A	T	2: 70,512,773		probably benign	Het
Esyt1	A	G	10: 128,512,428	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,835,631	E141G	probably damaging	Het
Fat1	A	G	8: 45,033,390	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,309,495	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,729,750	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,659,538	D194G	probably damaging	Het
Gpr89	A	G	3: 96,905,210	I5T	probably benign	Het
Gpx6	A	T	13: 21,318,920	H168L	probably benign	Het
Gusb	T	C	5: 129,998,544	T307A	probably benign	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,601,445	D118G	probably benign	Het
Ipcef1	A	T	10: 6,935,173		probably null	Het
Kbtbd3	A	T	9: 4,330,276	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,459,885		probably null	Het
Lrp1	T	C	10: 127,539,011	D4526G	probably damaging	Het
Lsm8	T	A	6: 18,849,659	M22K	probably benign	Het
Map1lc3b	C	T	8: 121,596,600	R70C	possibly damaging	Het
Meiob	T	A	17: 24,813,052	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330	Y183*	probably null	Het
Mrs2	T	C	13: 25,005,034	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,505,561	K151R	probably benign	Het
Neb	T	G	2: 52,328,734	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,650,078	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,904,978	T122I	probably damaging	Het
Nuggc	A	T	14: 65,624,133	N476I	probably damaging	Het
Obscn	T	A	11: 59,031,036	H5978L	probably benign	Het
Oc90	G	T	15: 65,876,521	A412D	probably damaging	Het
Olfr1080	A	T	2: 86,553,752	V124E	probably damaging	Het
Olfr1143	T	G	2: 87,802,868	S160A	probably benign	Het
Olfr1249	A	G	2: 89,630,014	S295P	possibly damaging	Het
Olfr168	T	A	16: 19,530,383	D179V	possibly damaging	Het
Olfr399	A	G	11: 74,053,824	*312Q	probably null	Het
Olfr8	T	A	10: 78,955,848	S214R	probably benign	Het
Pdzrn3	A	T	6: 101,150,969	V912E	probably benign	Het
Phactr1	T	A	13: 43,094,990	Y387N	probably damaging	Het
Picalm	T	A	7: 90,130,651	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,941,077	I314F	possibly damaging	Het
Pold2	T	C	11: 5,874,175	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,524		probably benign	Het
Rac1	G	T	5: 143,507,338	A165E	probably damaging	Het
Rpap3	G	T	15: 97,686,483	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,526,888	T1012I	probably benign	Het
Sdad1	A	G	5: 92,309,823	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,859,912	K180T	probably damaging	Het
Sgpl1	T	C	10: 61,102,589	N475S	probably damaging	Het
Shroom3	T	C	5: 92,942,834	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,119,158	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,361,171	I36V	probably benign	Het
Smarca2	C	G	19: 26,631,101	P263A	possibly damaging	Het
Sp100	T	C	1: 85,663,521		probably benign	Het
Spag6l	A	G	16: 16,780,614		probably benign	Het
Sptbn1	T	C	11: 30,121,498	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,190,951	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,868,355	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,826,393		probably null	Het
Tnfrsf9	T	A	4: 150,933,104		probably null	Het
Tnni3k	T	C	3: 154,939,658	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,805,764	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,803,350	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,946,210	H541P	probably damaging	Het
Zfp84	A	G	7: 29,776,614	I244V	possibly damaging	Het
Zyx	A	G	6: 42,356,312	Y393C	probably damaging	Het

Other mutations in Lrp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Lrp1b	APN	2	41110861	missense	probably damaging	1.00
IGL00543:Lrp1b	APN	2	41468948	missense	possibly damaging	0.69
IGL00578:Lrp1b	APN	2	40679173	missense	unknown
IGL01020:Lrp1b	APN	2	40998247	missense	probably damaging	1.00
IGL01092:Lrp1b	APN	2	40750947	missense	probably damaging	0.97
IGL01155:Lrp1b	APN	2	41770935	missense	probably benign	0.17
IGL01361:Lrp1b	APN	2	41110751	splice site	probably benign
IGL01377:Lrp1b	APN	2	40601538	missense	probably damaging	1.00
IGL01459:Lrp1b	APN	2	40860714	missense	probably damaging	0.97
IGL01473:Lrp1b	APN	2	40611486	missense	probably damaging	0.97
IGL01528:Lrp1b	APN	2	40919182	missense	probably damaging	0.99
IGL01536:Lrp1b	APN	2	41110883	missense	probably benign	0.01
IGL01564:Lrp1b	APN	2	40677486	splice site	probably benign
IGL01747:Lrp1b	APN	2	40860685	missense	probably damaging	1.00
IGL01764:Lrp1b	APN	2	40697442	missense	unknown
IGL01783:Lrp1b	APN	2	41312572	missense	probably damaging	1.00
IGL01802:Lrp1b	APN	2	41511482	missense	probably benign	0.07
IGL01826:Lrp1b	APN	2	41449234	missense	probably damaging	1.00
IGL01884:Lrp1b	APN	2	41284213	nonsense	probably null
IGL01908:Lrp1b	APN	2	40702804	missense	probably benign
IGL01935:Lrp1b	APN	2	41268355	missense	probably damaging	1.00
IGL01959:Lrp1b	APN	2	41312527	missense	probably damaging	0.99
IGL02010:Lrp1b	APN	2	41468942	missense	probably damaging	1.00
IGL02022:Lrp1b	APN	2	41282160	missense	probably damaging	1.00
IGL02028:Lrp1b	APN	2	41511452	missense	probably damaging	1.00
IGL02034:Lrp1b	APN	2	41268370	nonsense	probably null
IGL02043:Lrp1b	APN	2	40697525	missense	probably null	0.44
IGL02066:Lrp1b	APN	2	41111079	nonsense	probably null
IGL02085:Lrp1b	APN	2	40889309	missense	probably benign
IGL02137:Lrp1b	APN	2	40730688	splice site	probably benign
IGL02218:Lrp1b	APN	2	41295672	missense	probably benign	0.11
IGL02409:Lrp1b	APN	2	41445196	missense	possibly damaging	0.93
IGL02513:Lrp1b	APN	2	41110753	critical splice donor site	probably null
IGL02543:Lrp1b	APN	2	40870401	missense	possibly damaging	0.89
IGL02701:Lrp1b	APN	2	41246017	missense	possibly damaging	0.50
IGL02728:Lrp1b	APN	2	40801398	missense	probably benign	0.03
IGL02739:Lrp1b	APN	2	41498215	missense	probably damaging	1.00
IGL02748:Lrp1b	APN	2	40702749	missense	probably damaging	0.99
IGL02754:Lrp1b	APN	2	40702794	missense	probably benign	0.02
IGL02797:Lrp1b	APN	2	41671057	missense
IGL02813:Lrp1b	APN	2	40679217	critical splice acceptor site	probably null
IGL02831:Lrp1b	APN	2	41193591	missense	probably damaging	1.00
IGL02869:Lrp1b	APN	2	40701830	missense	unknown
IGL02946:Lrp1b	APN	2	41312559	missense	probably damaging	1.00
IGL02952:Lrp1b	APN	2	41506703	missense	probably benign	0.33
IGL02958:Lrp1b	APN	2	41302916	missense	probably damaging	1.00
IGL02977:Lrp1b	APN	2	40730735	missense	probably damaging	1.00
IGL03001:Lrp1b	APN	2	40927889	missense	probably damaging	1.00
IGL03010:Lrp1b	APN	2	42323606	missense	possibly damaging	0.94
IGL03060:Lrp1b	APN	2	40637753	missense	probably benign	0.04
IGL03129:Lrp1b	APN	2	41312466	splice site	probably benign
IGL03166:Lrp1b	APN	2	41111038	missense	probably damaging	1.00
IGL03170:Lrp1b	APN	2	40697444	missense	unknown
IGL03195:Lrp1b	APN	2	41471122	missense	possibly damaging	0.95
IGL03224:Lrp1b	APN	2	41471031	missense	possibly damaging	0.92
IGL03251:Lrp1b	APN	2	40600267	missense	probably benign	0.20
IGL03281:Lrp1b	APN	2	40725514	missense	probably benign	0.01
IGL03295:Lrp1b	APN	2	40678987	splice site	probably null
IGL03340:Lrp1b	APN	2	41468969	missense	probably damaging	0.97
IGL03391:Lrp1b	APN	2	41295641	missense	possibly damaging	0.95
IGL03401:Lrp1b	APN	2	41110778	missense	probably benign	0.18
IGL03403:Lrp1b	APN	2	40702824	missense	probably benign	0.16
IGL03408:Lrp1b	APN	2	40858582	missense	probably damaging	0.97
Fetching	UTSW	2	40879555	missense	probably benign	0.00
Heiden	UTSW	2	40637775	missense	probably benign	0.00
hither	UTSW	2	40702848	missense	probably benign	0.00
Roeslein	UTSW	2	40725907	missense	probably damaging	1.00
I2288:Lrp1b	UTSW	2	41122932	missense	probably damaging	0.99
I2289:Lrp1b	UTSW	2	41122932	missense	probably damaging	0.99
LCD18:Lrp1b	UTSW	2	42237562	intron	probably benign
PIT4431001:Lrp1b	UTSW	2	41004755	missense
PIT4585001:Lrp1b	UTSW	2	41269204	missense
R0022:Lrp1b	UTSW	2	40998038	splice site	probably benign
R0022:Lrp1b	UTSW	2	40998038	splice site	probably benign
R0054:Lrp1b	UTSW	2	40742817	missense	probably benign	0.11
R0054:Lrp1b	UTSW	2	40742817	missense	probably benign	0.11
R0094:Lrp1b	UTSW	2	41282030	unclassified	probably benign
R0102:Lrp1b	UTSW	2	41408985	splice site	probably benign
R0123:Lrp1b	UTSW	2	40596983	missense	probably damaging	1.00
R0128:Lrp1b	UTSW	2	41511508	missense	probably damaging	1.00
R0130:Lrp1b	UTSW	2	41511508	missense	probably damaging	1.00
R0134:Lrp1b	UTSW	2	40596983	missense	probably damaging	1.00
R0135:Lrp1b	UTSW	2	41269239	missense	probably damaging	0.99
R0153:Lrp1b	UTSW	2	41123019	missense	possibly damaging	0.92
R0178:Lrp1b	UTSW	2	40725907	missense	probably damaging	1.00
R0225:Lrp1b	UTSW	2	40596983	missense	probably damaging	1.00
R0242:Lrp1b	UTSW	2	40998183	missense	probably benign	0.01
R0242:Lrp1b	UTSW	2	40998183	missense	probably benign	0.01
R0312:Lrp1b	UTSW	2	41282171	missense	probably damaging	1.00
R0325:Lrp1b	UTSW	2	40851711	missense	probably damaging	1.00
R0330:Lrp1b	UTSW	2	40701761	nonsense	probably null
R0372:Lrp1b	UTSW	2	40730798	missense	probably benign	0.30
R0400:Lrp1b	UTSW	2	40750914	missense	probably benign	0.40
R0408:Lrp1b	UTSW	2	40677591	missense	probably damaging	1.00
R0498:Lrp1b	UTSW	2	41458405	missense	probably benign	0.19
R0563:Lrp1b	UTSW	2	40750914	missense	probably benign	0.40
R0569:Lrp1b	UTSW	2	40889239	missense	probably benign	0.11
R0622:Lrp1b	UTSW	2	41728551	critical splice donor site	probably null
R0682:Lrp1b	UTSW	2	41295641	missense	probably benign	0.01
R0727:Lrp1b	UTSW	2	40750944	missense	probably benign	0.40
R0747:Lrp1b	UTSW	2	40870341	missense	probably damaging	1.00
R0761:Lrp1b	UTSW	2	41185935	missense	probably damaging	0.99
R0905:Lrp1b	UTSW	2	41284185	missense	probably damaging	1.00
R0959:Lrp1b	UTSW	2	41268354	missense	possibly damaging	0.83
R1124:Lrp1b	UTSW	2	40875051	missense	probably damaging	1.00
R1158:Lrp1b	UTSW	2	40677494	missense	unknown
R1265:Lrp1b	UTSW	2	41476654	missense	probably damaging	1.00
R1276:Lrp1b	UTSW	2	41728576	missense	probably benign	0.35
R1277:Lrp1b	UTSW	2	40725945	missense	probably benign
R1282:Lrp1b	UTSW	2	40860761	missense	probably damaging	1.00
R1291:Lrp1b	UTSW	2	41341895	missense	probably benign	0.05
R1316:Lrp1b	UTSW	2	40702804	missense	probably benign
R1340:Lrp1b	UTSW	2	40702794	missense	probably benign	0.02
R1371:Lrp1b	UTSW	2	40647153	missense	probably damaging	1.00
R1415:Lrp1b	UTSW	2	40629664	missense	probably damaging	1.00
R1416:Lrp1b	UTSW	2	40998216	missense	probably damaging	1.00
R1417:Lrp1b	UTSW	2	41004641	missense	probably benign	0.14
R1465:Lrp1b	UTSW	2	41111059	missense	probably benign	0.00
R1465:Lrp1b	UTSW	2	41111059	missense	probably benign	0.00
R1467:Lrp1b	UTSW	2	40657356	splice site	probably benign
R1468:Lrp1b	UTSW	2	40927829	critical splice donor site	probably null
R1468:Lrp1b	UTSW	2	40927829	critical splice donor site	probably null
R1480:Lrp1b	UTSW	2	40903389	missense	probably damaging	1.00
R1488:Lrp1b	UTSW	2	41502024	missense	probably benign	0.01
R1542:Lrp1b	UTSW	2	41123712	missense	probably damaging	1.00
R1571:Lrp1b	UTSW	2	41476646	missense	probably damaging	1.00
R1598:Lrp1b	UTSW	2	41511478	missense	probably damaging	1.00
R1619:Lrp1b	UTSW	2	40697589	missense	unknown
R1697:Lrp1b	UTSW	2	40822683	missense	probably damaging	0.99
R1698:Lrp1b	UTSW	2	40851806	nonsense	probably null
R1699:Lrp1b	UTSW	2	41185962	missense	possibly damaging	0.91
R1715:Lrp1b	UTSW	2	41185981	missense	probably damaging	1.00
R1748:Lrp1b	UTSW	2	41728706	missense	possibly damaging	0.56
R1756:Lrp1b	UTSW	2	41110825	missense	probably damaging	1.00
R1889:Lrp1b	UTSW	2	40919167	nonsense	probably null
R1895:Lrp1b	UTSW	2	40665147	missense	unknown
R1902:Lrp1b	UTSW	2	40860661	missense	probably damaging	1.00
R1919:Lrp1b	UTSW	2	41728729	missense	probably benign	0.00
R1939:Lrp1b	UTSW	2	40697589	missense	unknown
R1946:Lrp1b	UTSW	2	40665147	missense	unknown
R1954:Lrp1b	UTSW	2	40858441	missense	probably damaging	1.00
R1970:Lrp1b	UTSW	2	40875069	missense	probably damaging	1.00
R1983:Lrp1b	UTSW	2	41511404	critical splice donor site	probably null
R2029:Lrp1b	UTSW	2	41341849	missense	probably benign	0.02
R2054:Lrp1b	UTSW	2	40697482	missense	unknown
R2108:Lrp1b	UTSW	2	41110757	missense	probably damaging	1.00
R2158:Lrp1b	UTSW	2	40879555	missense	probably benign	0.00
R2168:Lrp1b	UTSW	2	41375846	missense	probably damaging	1.00
R2184:Lrp1b	UTSW	2	40730702	missense	probably benign
R2188:Lrp1b	UTSW	2	41408959	missense	probably benign	0.25
R2200:Lrp1b	UTSW	2	41284165	missense	probably benign	0.43
R2342:Lrp1b	UTSW	2	40919196	missense	possibly damaging	0.89
R2421:Lrp1b	UTSW	2	40882133	splice site	probably benign
R2656:Lrp1b	UTSW	2	41511581	missense	probably damaging	0.99
R2864:Lrp1b	UTSW	2	40874995	missense	possibly damaging	0.92
R2874:Lrp1b	UTSW	2	40851693	missense	probably damaging	1.00
R2911:Lrp1b	UTSW	2	41506692	missense	probably benign	0.00
R2919:Lrp1b	UTSW	2	41770899	missense	probably damaging	1.00
R3027:Lrp1b	UTSW	2	40870271	missense	probably benign	0.33
R3083:Lrp1b	UTSW	2	40600324	missense	probably damaging	0.99
R3545:Lrp1b	UTSW	2	40600288	missense	probably damaging	1.00
R3546:Lrp1b	UTSW	2	40600288	missense	probably damaging	1.00
R3547:Lrp1b	UTSW	2	40600288	missense	probably damaging	1.00
R3709:Lrp1b	UTSW	2	40697442	missense	unknown
R3817:Lrp1b	UTSW	2	40876658	missense	probably damaging	1.00
R3876:Lrp1b	UTSW	2	41445194	missense	probably damaging	1.00
R3877:Lrp1b	UTSW	2	41445194	missense	probably damaging	1.00
R3896:Lrp1b	UTSW	2	40922428	splice site	probably null
R3901:Lrp1b	UTSW	2	40822695	missense	probably damaging	1.00
R3915:Lrp1b	UTSW	2	41449236	missense	probably damaging	1.00
R3922:Lrp1b	UTSW	2	40677581	missense	unknown
R3964:Lrp1b	UTSW	2	41312470	splice site	probably benign
R4013:Lrp1b	UTSW	2	40802984	missense	possibly damaging	0.66
R4014:Lrp1b	UTSW	2	40802984	missense	possibly damaging	0.66
R4015:Lrp1b	UTSW	2	40802984	missense	possibly damaging	0.66
R4017:Lrp1b	UTSW	2	40802984	missense	possibly damaging	0.66
R4031:Lrp1b	UTSW	2	40702848	missense	probably benign	0.00
R4095:Lrp1b	UTSW	2	41449191	missense	probably benign	0.03
R4108:Lrp1b	UTSW	2	40665087	missense	unknown
R4176:Lrp1b	UTSW	2	41408393	missense	probably damaging	1.00
R4181:Lrp1b	UTSW	2	40611434	missense	probably damaging	1.00
R4359:Lrp1b	UTSW	2	40903065	missense	probably damaging	1.00
R4410:Lrp1b	UTSW	2	40665082	missense	possibly damaging	0.96
R4416:Lrp1b	UTSW	2	40663667	missense	unknown
R4489:Lrp1b	UTSW	2	40661489	unclassified	probably benign
R4577:Lrp1b	UTSW	2	40821719	missense	probably damaging	1.00
R4623:Lrp1b	UTSW	2	41246021	missense	probably damaging	1.00
R4677:Lrp1b	UTSW	2	40801484	missense	probably damaging	1.00
R4684:Lrp1b	UTSW	2	40922304	missense	probably benign	0.44
R4714:Lrp1b	UTSW	2	41110759	missense	possibly damaging	0.90
R4721:Lrp1b	UTSW	2	40715369	splice site	probably null
R4755:Lrp1b	UTSW	2	41269273	missense	probably benign	0.07
R4755:Lrp1b	UTSW	2	41471016	missense	probably benign
R4774:Lrp1b	UTSW	2	40661532	missense	probably null	1.00
R4854:Lrp1b	UTSW	2	41111077	missense	probably damaging	1.00
R4880:Lrp1b	UTSW	2	41770919	missense	probably benign	0.07
R4885:Lrp1b	UTSW	2	41468893	missense	probably benign
R4901:Lrp1b	UTSW	2	40821645	missense	probably damaging	1.00
R4919:Lrp1b	UTSW	2	40647234	missense	probably benign	0.25
R4935:Lrp1b	UTSW	2	41498393	missense	probably benign	0.01
R4937:Lrp1b	UTSW	2	40802885	splice site	probably null
R4967:Lrp1b	UTSW	2	41788974	missense	probably damaging	1.00
R4968:Lrp1b	UTSW	2	40702707	splice site	probably null
R4968:Lrp1b	UTSW	2	41789062	missense	probably damaging	1.00
R5155:Lrp1b	UTSW	2	41728622	intron	probably null
R5221:Lrp1b	UTSW	2	41112982	missense	possibly damaging	0.79
R5224:Lrp1b	UTSW	2	41110840	missense	possibly damaging	0.61
R5227:Lrp1b	UTSW	2	40851793	missense	possibly damaging	0.95
R5246:Lrp1b	UTSW	2	41470940	critical splice donor site	probably null
R5263:Lrp1b	UTSW	2	41960679	missense	probably damaging	1.00
R5274:Lrp1b	UTSW	2	41344444	missense	probably null	1.00
R5291:Lrp1b	UTSW	2	40903003	missense	probably damaging	1.00
R5362:Lrp1b	UTSW	2	41375902	missense	probably damaging	1.00
R5365:Lrp1b	UTSW	2	40647125	missense	possibly damaging	0.55
R5369:Lrp1b	UTSW	2	41004613	nonsense	probably null
R5419:Lrp1b	UTSW	2	40730704	nonsense	probably null
R5434:Lrp1b	UTSW	2	41770868	missense	probably damaging	0.96
R5452:Lrp1b	UTSW	2	40922316	missense	probably damaging	1.00
R5453:Lrp1b	UTSW	2	41282237	missense	probably damaging	1.00
R5496:Lrp1b	UTSW	2	40927973	missense	probably benign	0.02
R5524:Lrp1b	UTSW	2	41110888	missense	probably damaging	1.00
R5538:Lrp1b	UTSW	2	40697474	missense	unknown
R5571:Lrp1b	UTSW	2	41408342	missense	probably damaging	0.97
R5577:Lrp1b	UTSW	2	40875123	missense	possibly damaging	0.70
R5609:Lrp1b	UTSW	2	41341795	missense	probably damaging	1.00
R5635:Lrp1b	UTSW	2	42652822	utr 5 prime	probably benign
R5669:Lrp1b	UTSW	2	41111038	missense	probably damaging	1.00
R5672:Lrp1b	UTSW	2	41341759	missense	probably benign	0.01
R5690:Lrp1b	UTSW	2	40750894	splice site	probably null
R5752:Lrp1b	UTSW	2	41295612	missense	probably damaging	1.00
R5853:Lrp1b	UTSW	2	40663726	missense	unknown
R5869:Lrp1b	UTSW	2	41004603	missense	probably damaging	0.98
R5880:Lrp1b	UTSW	2	41341814	missense	probably benign	0.23
R5887:Lrp1b	UTSW	2	40821707	missense	possibly damaging	0.91
R5893:Lrp1b	UTSW	2	40601587	missense	probably damaging	1.00
R5894:Lrp1b	UTSW	2	41498221	missense	probably benign	0.11
R6019:Lrp1b	UTSW	2	41302970	missense	probably damaging	1.00
R6019:Lrp1b	UTSW	2	41476809	missense	probably damaging	1.00
R6021:Lrp1b	UTSW	2	41344427	missense	probably benign	0.02
R6045:Lrp1b	UTSW	2	40701813	missense	unknown
R6047:Lrp1b	UTSW	2	40637775	missense	probably benign	0.00
R6060:Lrp1b	UTSW	2	40750934	missense	probably benign	0.09
R6063:Lrp1b	UTSW	2	41284144	nonsense	probably null
R6090:Lrp1b	UTSW	2	41185868	critical splice donor site	probably null
R6112:Lrp1b	UTSW	2	41341882	missense	probably benign	0.14
R6128:Lrp1b	UTSW	2	40860655	missense	probably benign
R6149:Lrp1b	UTSW	2	40875153	splice site	probably null
R6174:Lrp1b	UTSW	2	41449263	missense	probably benign
R6177:Lrp1b	UTSW	2	41123736	splice site	probably null
R6257:Lrp1b	UTSW	2	40596969	unclassified	probably null
R6267:Lrp1b	UTSW	2	40657525	missense	probably benign	0.00
R6268:Lrp1b	UTSW	2	40821717	missense	probably benign	0.01
R6331:Lrp1b	UTSW	2	40803209	missense	probably damaging	1.00
R6334:Lrp1b	UTSW	2	41789033	missense	probably benign
R6359:Lrp1b	UTSW	2	41295596	missense	probably damaging	1.00
R6371:Lrp1b	UTSW	2	40851654	missense	possibly damaging	0.61
R6421:Lrp1b	UTSW	2	40889270	missense	probably damaging	1.00
R6524:Lrp1b	UTSW	2	40851804	missense	possibly damaging	0.95
R6616:Lrp1b	UTSW	2	40699631	missense	unknown
R6632:Lrp1b	UTSW	2	40725442	missense	probably benign	0.23
R6656:Lrp1b	UTSW	2	40637864	nonsense	probably null
R6698:Lrp1b	UTSW	2	41302946	missense	probably damaging	1.00
R6741:Lrp1b	UTSW	2	41245989	missense	possibly damaging	0.82
R6742:Lrp1b	UTSW	2	41471120	missense	probably benign	0.31
R6811:Lrp1b	UTSW	2	40715500	splice site	probably null
R6811:Lrp1b	UTSW	2	41449194	missense	probably benign	0.01
R6855:Lrp1b	UTSW	2	40628696	missense	possibly damaging	0.66
R6888:Lrp1b	UTSW	2	41471126	missense	probably benign	0.18
R6946:Lrp1b	UTSW	2	40697439	missense	probably benign
R6984:Lrp1b	UTSW	2	40822628	missense	probably damaging	0.97
R7026:Lrp1b	UTSW	2	41269222	missense	probably damaging	1.00
R7028:Lrp1b	UTSW	2	41246011	missense	probably benign	0.45
R7036:Lrp1b	UTSW	2	41112342	missense	possibly damaging	0.89
R7043:Lrp1b	UTSW	2	40922414	missense	possibly damaging	0.84
R7071:Lrp1b	UTSW	2	41408264	missense
R7077:Lrp1b	UTSW	2	41770846	missense
R7115:Lrp1b	UTSW	2	40998235	missense
R7143:Lrp1b	UTSW	2	41312643	missense
R7146:Lrp1b	UTSW	2	41375994	nonsense	probably null
R7149:Lrp1b	UTSW	2	40637860	missense
R7185:Lrp1b	UTSW	2	40801512	critical splice acceptor site	probably null
R7239:Lrp1b	UTSW	2	41004713	missense
R7247:Lrp1b	UTSW	2	41269212	missense
R7331:Lrp1b	UTSW	2	40663610	splice site	probably null
R7369:Lrp1b	UTSW	2	41282039	missense
R7378:Lrp1b	UTSW	2	41295669	missense
R7381:Lrp1b	UTSW	2	40802917	missense
R7406:Lrp1b	UTSW	2	41376018	critical splice acceptor site	probably null
R7437:Lrp1b	UTSW	2	40822645	missense
R7437:Lrp1b	UTSW	2	40822646	missense
R7446:Lrp1b	UTSW	2	41671057	missense
R7460:Lrp1b	UTSW	2	40598466	missense
R7462:Lrp1b	UTSW	2	41113029	missense
R7475:Lrp1b	UTSW	2	41344576	missense
R7479:Lrp1b	UTSW	2	40801505	missense
R7523:Lrp1b	UTSW	2	41511461	missense
R7525:Lrp1b	UTSW	2	40657416	missense
R7549:Lrp1b	UTSW	2	40875122	missense
R7552:Lrp1b	UTSW	2	40677570	missense
R7558:Lrp1b	UTSW	2	41341936	missense
R7587:Lrp1b	UTSW	2	40730717	missense
R7599:Lrp1b	UTSW	2	40661549	missense
R7635:Lrp1b	UTSW	2	41123597	critical splice donor site	probably null
R7663:Lrp1b	UTSW	2	42653035	unclassified	probably benign
R7674:Lrp1b	UTSW	2	42652909	start gained	probably benign
R7681:Lrp1b	UTSW	2	40874999	nonsense	probably null
R7703:Lrp1b	UTSW	2	41110786	missense
V1662:Lrp1b	UTSW	2	41122932	missense	probably damaging	0.99
X0028:Lrp1b	UTSW	2	41471145	missense	probably damaging	1.00
X0064:Lrp1b	UTSW	2	41502043	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAAGACCCTGTGTTGCTATGCTG -3'
(R):5'- GCTGCTGCACTGAAAATGTCCTG -3'

Sequencing Primer
(F):5'- AACAAAAGGCTTCCCATTTCTCTG -3'
(R):5'- CTGAAAATGTCCTGGTGAAGCTC -3'

Posted On

2014-04-13