Mutagenetix > Incidental Mutation

Incidental Mutation 'R7232:Lrp3'

562548

Institutional Source

Beutler Lab

Gene Symbol

Lrp3

Ensembl Gene

ENSMUSG00000001802

Gene Name

low density lipoprotein receptor-related protein 3

Synonyms

MMRRC Submission

045303-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R7232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34900303-34914791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34905477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 103 (D103G)

Ref Sequence

ENSEMBL: ENSMUSP00000114026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001854] [ENSMUST00000118444] [ENSMUST00000122409]

AlphaFold

E9Q1T6

Predicted Effect

probably benign
Transcript: ENSMUST00000001854

SMART Domains

Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC
Pfam:AA_permease_2	46	474	4.8e-65	PFAM
Pfam:AA_permease	51	467	9.3e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118444
AA Change: D82G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
AA Change: D82G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
CUB	43	159	9.97e-20	SMART
LDLa	165	202	7.21e-11	SMART
LDLa	211	251	1.37e-11	SMART
CUB	254	365	1.98e-3	SMART
LDLa	367	414	1.85e-1	SMART
LDLa	415	453	4.44e-3	SMART
LDLa	454	490	8.74e-10	SMART
transmembrane domain	497	519	N/A	INTRINSIC
low complexity region	584	606	N/A	INTRINSIC
low complexity region	641	652	N/A	INTRINSIC
low complexity region	674	684	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122409
AA Change: D103G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
AA Change: D103G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
CUB	64	180	9.97e-20	SMART
LDLa	186	223	7.21e-11	SMART
LDLa	232	272	1.37e-11	SMART
CUB	275	386	1.98e-3	SMART
LDLa	388	435	1.85e-1	SMART
LDLa	436	474	4.44e-3	SMART
LDLa	475	511	8.74e-10	SMART
transmembrane domain	518	540	N/A	INTRINSIC
low complexity region	605	627	N/A	INTRINSIC
low complexity region	662	673	N/A	INTRINSIC
low complexity region	695	705	N/A	INTRINSIC

Meta Mutation Damage Score

0.1959

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	G	A	7: 40,642,603 (GRCm39)	G91S	probably damaging	Het
Adam21	T	G	12: 81,607,330 (GRCm39)	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,597,515 (GRCm39)		probably null	Het
Angpt4	T	C	2: 151,771,460 (GRCm39)	S259P	possibly damaging	Het
Aqr	A	C	2: 113,936,363 (GRCm39)	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,990,323 (GRCm39)	G266D	probably benign	Het
Bop1	A	G	15: 76,337,546 (GRCm39)	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,738,863 (GRCm39)		probably null	Het
Cfap46	C	A	7: 139,197,493 (GRCm39)	R2126L	unknown	Het
Chek2	T	C	5: 111,008,781 (GRCm39)	V304A	probably damaging	Het
Cntnap4	T	A	8: 113,391,731 (GRCm39)		probably null	Het
Ctps1	C	A	4: 120,405,321 (GRCm39)	G374C	probably damaging	Het
Defa27	A	T	8: 21,805,625 (GRCm39)	I22F	probably damaging	Het
Dnah14	T	C	1: 181,584,928 (GRCm39)	S3220P	probably damaging	Het
Dop1b	T	G	16: 93,557,373 (GRCm39)		probably null	Het
Dpysl5	G	A	5: 30,949,642 (GRCm39)	V471I	probably benign	Het
Duoxa1	T	A	2: 122,135,728 (GRCm39)	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,165,678 (GRCm39)	E85G	possibly damaging	Het
Eogt	T	A	6: 97,096,944 (GRCm39)	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279 (GRCm39)	V800E	probably damaging	Het
Evi5l	A	G	8: 4,255,906 (GRCm39)	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,414,728 (GRCm39)	Y125H	probably damaging	Het
Fbxo15	T	C	18: 84,980,747 (GRCm39)	Y241H	probably damaging	Het
Gbe1	T	C	16: 70,233,828 (GRCm39)	I235T	possibly damaging	Het
Gfra3	C	T	18: 34,844,234 (GRCm39)	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380 (GRCm39)	G233S	probably damaging	Het
Gm29106	C	T	1: 118,127,291 (GRCm39)	P328S	probably damaging	Het
Hgfac	G	T	5: 35,204,258 (GRCm39)	R507L	probably damaging	Het
Jakmip3	A	G	7: 138,609,355 (GRCm39)	K153R	probably benign	Het
Kcnc1	T	A	7: 46,077,383 (GRCm39)	V395E	probably damaging	Het
Krt6b	T	C	15: 101,586,577 (GRCm39)	D304G	probably damaging	Het
Ldha	T	C	7: 46,500,323 (GRCm39)	Y174H	probably benign	Het
Lgi4	G	A	7: 30,766,776 (GRCm39)	V268M	possibly damaging	Het
Lpar3	T	G	3: 145,947,061 (GRCm39)		probably null	Het
Marchf5	G	A	19: 37,194,713 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,419,866 (GRCm39)	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,239,672 (GRCm39)	D741N	probably damaging	Het
Naglu	A	T	11: 100,967,252 (GRCm39)	I401F	probably damaging	Het
Ncam2	T	A	16: 81,309,759 (GRCm39)	N416K	probably damaging	Het
Ncan	A	G	8: 70,564,738 (GRCm39)	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	A	T	19: 5,553,659 (GRCm39)	S41T	possibly damaging	Het
Onecut2	T	A	18: 64,474,633 (GRCm39)	W395R	probably damaging	Het
Or10a2	T	A	7: 106,673,062 (GRCm39)	I9K	probably benign	Het
Pak6	T	A	2: 118,524,003 (GRCm39)	V386E	probably damaging	Het
Pias2	A	G	18: 77,220,931 (GRCm39)	S396G	probably benign	Het
Plxna2	T	A	1: 194,394,568 (GRCm39)	L483H	probably damaging	Het
Prss36	G	T	7: 127,534,763 (GRCm39)	R484S	probably benign	Het
Ptpn21	A	T	12: 98,654,996 (GRCm39)	V657E	probably benign	Het
Rassf2	T	C	2: 131,838,332 (GRCm39)	E318G	probably damaging	Het
Rp1	A	C	1: 4,298,824 (GRCm39)	S623A	unknown	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn11a	T	A	9: 119,588,982 (GRCm39)	E1308V	probably damaging	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Slit3	A	G	11: 35,501,516 (GRCm39)	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,367,310 (GRCm39)	A162E	possibly damaging	Het
Sox13	A	T	1: 133,312,129 (GRCm39)		probably null	Het
Sox8	G	T	17: 25,786,514 (GRCm39)	S396R	probably benign	Het
Sult2a3	A	T	7: 13,816,685 (GRCm39)	F164L	possibly damaging	Het
Susd2	T	C	10: 75,475,685 (GRCm39)	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,655,810 (GRCm39)	T14P	probably damaging	Het
Tcf25	T	A	8: 124,127,800 (GRCm39)		probably null	Het
Tenm3	G	A	8: 48,688,970 (GRCm39)	R2206W	probably damaging	Het
Tep1	A	G	14: 51,081,789 (GRCm39)	L471P	unknown	Het
Ticrr	A	T	7: 79,343,490 (GRCm39)	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,770 (GRCm39)	V141A	probably benign	Het
Unc79	T	A	12: 103,100,734 (GRCm39)	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,920,020 (GRCm39)	D235G	probably benign	Het
Vcam1	T	C	3: 115,919,628 (GRCm39)	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 41,786,166 (GRCm39)	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,703 (GRCm39)	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,240,329 (GRCm39)	S160T	probably benign	Het
Zar1	G	A	5: 72,738,294 (GRCm39)	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,135,984 (GRCm39)	M204K	probably benign	Het
Zhx1	T	C	15: 57,916,465 (GRCm39)	T594A	probably benign	Het

Other mutations in Lrp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Lrp3	APN	7	34,905,453 (GRCm39)	splice site	probably benign
IGL01714:Lrp3	APN	7	34,905,496 (GRCm39)	splice site	probably null
IGL03033:Lrp3	APN	7	34,902,052 (GRCm39)	missense	possibly damaging	0.61
IGL03166:Lrp3	APN	7	34,901,905 (GRCm39)	missense	probably benign	0.00
Blackball	UTSW	7	34,905,477 (GRCm39)	missense	probably damaging	1.00
lowball	UTSW	7	34,903,593 (GRCm39)	missense	probably benign	0.00
PIT4434001:Lrp3	UTSW	7	34,903,420 (GRCm39)	missense	probably damaging	0.99
R0416:Lrp3	UTSW	7	34,901,778 (GRCm39)	missense	probably benign
R0733:Lrp3	UTSW	7	34,901,545 (GRCm39)	missense	possibly damaging	0.93
R0907:Lrp3	UTSW	7	34,902,718 (GRCm39)	missense	probably damaging	0.99
R1437:Lrp3	UTSW	7	34,912,595 (GRCm39)	missense	probably damaging	1.00
R1591:Lrp3	UTSW	7	34,901,790 (GRCm39)	missense	probably benign	0.03
R1625:Lrp3	UTSW	7	34,903,350 (GRCm39)	missense	probably damaging	1.00
R1703:Lrp3	UTSW	7	34,912,586 (GRCm39)	missense	possibly damaging	0.95
R3976:Lrp3	UTSW	7	34,903,530 (GRCm39)	missense	probably benign	0.06
R4196:Lrp3	UTSW	7	34,902,835 (GRCm39)	missense	probably damaging	1.00
R4679:Lrp3	UTSW	7	34,903,365 (GRCm39)	missense	probably damaging	1.00
R5686:Lrp3	UTSW	7	34,902,910 (GRCm39)	missense	possibly damaging	0.84
R5836:Lrp3	UTSW	7	34,902,747 (GRCm39)	missense	probably damaging	1.00
R6160:Lrp3	UTSW	7	34,903,548 (GRCm39)	missense	possibly damaging	0.79
R6342:Lrp3	UTSW	7	34,901,731 (GRCm39)	missense	probably benign	0.01
R6364:Lrp3	UTSW	7	34,903,134 (GRCm39)	missense	probably benign	0.03
R6415:Lrp3	UTSW	7	34,903,593 (GRCm39)	missense	probably benign	0.00
R6502:Lrp3	UTSW	7	34,903,413 (GRCm39)	missense	possibly damaging	0.89
R6747:Lrp3	UTSW	7	34,910,862 (GRCm39)	missense	probably benign
R7205:Lrp3	UTSW	7	34,902,051 (GRCm39)	missense	probably damaging	0.99
R7522:Lrp3	UTSW	7	34,903,755 (GRCm39)	missense	probably damaging	0.99
R7870:Lrp3	UTSW	7	34,910,922 (GRCm39)	missense	probably damaging	0.99
R7963:Lrp3	UTSW	7	34,902,404 (GRCm39)	nonsense	probably null
R9094:Lrp3	UTSW	7	34,903,182 (GRCm39)	missense	probably damaging	1.00
R9242:Lrp3	UTSW	7	34,901,934 (GRCm39)	missense	probably benign	0.01
R9474:Lrp3	UTSW	7	34,903,489 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrp3	UTSW	7	34,902,437 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCCCACACATGCTTACAG -3'
(R):5'- CTTGTGTTCAAGCCACGAGC -3'

Sequencing Primer
(F):5'- TGCTTACAGCTCACACATGG -3'
(R):5'- GCAGGAAACATGCCTCCTAC -3'

Posted On

2019-06-26