Mutagenetix > Incidental Mutation

Incidental Mutation 'R5046:Sorl1'

394379

Institutional Source

Beutler Lab

Gene Symbol

Sorl1

Ensembl Gene

ENSMUSG00000049313

Gene Name

sortilin-related receptor, LDLR class A repeats-containing

Synonyms

Sorla, mSorLA, LR11, 2900010L19Rik

MMRRC Submission

042636-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R5046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41876016-42035593 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41907590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1466 (T1466A)

Ref Sequence

ENSEMBL: ENSMUSP00000058613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060989]

AlphaFold

O88307

Predicted Effect

probably benign
Transcript: ENSMUST00000060989
AA Change: T1466A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058613
Gene: ENSMUSG00000049313
AA Change: T1466A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
VPS10	124	757	N/A	SMART
LY	780	822	9.33e-6	SMART
LY	824	866	2.38e-12	SMART
LY	867	912	1.87e-5	SMART
LY	913	953	1.08e-10	SMART
LY	954	993	5.43e0	SMART
EGF_like	1020	1072	2.8e1	SMART
LDLa	1077	1114	1.76e-14	SMART
LDLa	1116	1155	5.34e-14	SMART
LDLa	1157	1194	1.67e-15	SMART
EGF_like	1198	1236	4.93e1	SMART
LDLa	1198	1237	3.83e-15	SMART
LDLa	1238	1273	1.99e-13	SMART
LDLa	1274	1317	2.53e-6	SMART
LDLa	1324	1361	4.34e-14	SMART
LDLa	1367	1405	1.14e-13	SMART
LDLa	1418	1455	3.34e-15	SMART
LDLa	1470	1508	1.09e-10	SMART
LDLa	1513	1551	1.09e-10	SMART
FN3	1555	1638	4.19e-4	SMART
FN3	1651	1732	7.23e-8	SMART
FN3	1747	1830	4.8e0	SMART
FN3	1842	1920	3e1	SMART
FN3	1933	2016	6.01e-5	SMART
FN3	2025	2107	2.03e-2	SMART
transmembrane domain	2137	2159	N/A	INTRINSIC
low complexity region	2188	2199	N/A	INTRINSIC

Meta Mutation Damage Score

0.0579

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutation of this gene results in decreased femoral artery intimal thickness after cuff placement and abolished angiotensin II stimulated vascular smooth muscle migration and attachment. Two other alleles show an increase in beta-amyloid deposits or peptide in the brain. [provided by MGI curators]

Allele List at MGI

All alleles(15) : Targeted, knock-out(2) Gene trapped(13)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	A	7: 119,302,597 (GRCm39)	H241N	probably damaging	Het
Arhgap32	G	A	9: 32,168,095 (GRCm39)	A693T	probably damaging	Het
B4galnt3	G	T	6: 120,191,759 (GRCm39)	A658D	probably damaging	Het
Car12	G	A	9: 66,653,895 (GRCm39)	E84K	probably benign	Het
Crocc2	T	A	1: 93,133,624 (GRCm39)	S969T	probably damaging	Het
Crym	A	G	7: 119,794,667 (GRCm39)	V184A	possibly damaging	Het
Cryzl2	T	C	1: 157,292,583 (GRCm39)	C122R	probably damaging	Het
Defb30	T	C	14: 63,273,463 (GRCm39)	E49G	probably benign	Het
Dnah3	A	G	7: 119,550,803 (GRCm39)	L3161P	probably damaging	Het
Dnajc5g	A	G	5: 31,267,036 (GRCm39)	N104S	probably benign	Het
Fcgr1	T	G	3: 96,194,302 (GRCm39)	K195T	probably damaging	Het
Gal	C	T	19: 3,461,167 (GRCm39)	R89H	probably damaging	Het
Gcfc2	C	T	6: 81,925,316 (GRCm39)	A577V	probably benign	Het
Gm5116	A	C	7: 32,195,379 (GRCm39)		noncoding transcript	Het
Golga3	A	T	5: 110,340,806 (GRCm39)	Q540L	probably damaging	Het
Hectd1	T	C	12: 51,797,171 (GRCm39)	E2184G	probably damaging	Het
Hspa12a	T	C	19: 58,787,977 (GRCm39)	D615G	probably damaging	Het
Igkv14-130	A	T	6: 67,768,465 (GRCm39)	Y107F	probably damaging	Het
Ldlr	T	A	9: 21,657,203 (GRCm39)		probably null	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc37a	A	T	11: 103,389,066 (GRCm39)	S2120T	unknown	Het
Mtfmt	G	T	9: 65,346,897 (GRCm39)	V164F	probably damaging	Het
Nampt	T	C	12: 32,883,037 (GRCm39)	V74A	probably damaging	Het
Ndufc2	G	T	7: 97,056,871 (GRCm39)	R120L	probably damaging	Het
Neo1	A	T	9: 58,801,194 (GRCm39)	V1156D	possibly damaging	Het
Nlrp1b	G	A	11: 71,050,898 (GRCm39)	P1065S	possibly damaging	Het
Nop9	A	G	14: 55,983,397 (GRCm39)	H56R	possibly damaging	Het
Or4k41	A	T	2: 111,279,934 (GRCm39)	T150S	probably benign	Het
Or6c75	A	T	10: 129,337,178 (GRCm39)	M142L	possibly damaging	Het
Pign	A	T	1: 105,449,798 (GRCm39)	N909K	possibly damaging	Het
Prex1	A	G	2: 166,414,883 (GRCm39)	V304A	probably benign	Het
Racgap1	G	A	15: 99,526,643 (GRCm39)	R307W	probably damaging	Het
Rap1gds1	C	A	3: 138,661,181 (GRCm39)	E399*	probably null	Het
Rwdd4a	G	A	8: 47,995,837 (GRCm39)		probably null	Het
Sanbr	A	C	11: 23,570,354 (GRCm39)	M182R	probably benign	Het
Scp2	T	C	4: 107,928,488 (GRCm39)	T401A	probably benign	Het
Sdha	A	G	13: 74,475,452 (GRCm39)	F526S	probably damaging	Het
Shroom1	T	A	11: 53,354,872 (GRCm39)	L264Q	probably benign	Het
Trpm2	C	T	10: 77,801,852 (GRCm39)	C71Y	probably damaging	Het
Ugt2b34	G	A	5: 87,052,246 (GRCm39)	S250L	probably benign	Het
Vmn2r88	A	G	14: 51,650,638 (GRCm39)	D117G	probably benign	Het
Wdr73	A	T	7: 80,542,173 (GRCm39)		probably benign	Het

Other mutations in Sorl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Sorl1	APN	9	41,885,390 (GRCm39)	missense	probably damaging	1.00
IGL01303:Sorl1	APN	9	41,935,774 (GRCm39)	splice site	probably benign
IGL01545:Sorl1	APN	9	41,955,252 (GRCm39)	missense	probably damaging	1.00
IGL01629:Sorl1	APN	9	41,968,565 (GRCm39)	critical splice donor site	probably null
IGL01670:Sorl1	APN	9	41,912,788 (GRCm39)	missense	possibly damaging	0.81
IGL01684:Sorl1	APN	9	41,892,007 (GRCm39)	missense	probably damaging	0.96
IGL02154:Sorl1	APN	9	41,915,330 (GRCm39)	missense	probably benign
IGL02215:Sorl1	APN	9	41,929,478 (GRCm39)	missense	probably damaging	0.97
IGL02427:Sorl1	APN	9	41,952,986 (GRCm39)	missense	probably damaging	1.00
IGL02590:Sorl1	APN	9	41,957,857 (GRCm39)	missense	probably benign	0.01
IGL02794:Sorl1	APN	9	41,975,070 (GRCm39)	missense	probably damaging	0.98
IGL02797:Sorl1	APN	9	41,948,355 (GRCm39)	missense	probably damaging	0.99
IGL02987:Sorl1	APN	9	41,952,349 (GRCm39)	missense	probably damaging	1.00
IGL03005:Sorl1	APN	9	41,968,621 (GRCm39)	missense	probably damaging	1.00
IGL03069:Sorl1	APN	9	41,902,722 (GRCm39)	missense	probably benign
IGL03288:Sorl1	APN	9	41,944,858 (GRCm39)	splice site	probably benign
N/A - 287:Sorl1	UTSW	9	41,952,892 (GRCm39)	nonsense	probably null
PIT4151001:Sorl1	UTSW	9	41,879,918 (GRCm39)	missense	probably damaging	1.00
R0117:Sorl1	UTSW	9	41,944,873 (GRCm39)	missense	probably benign	0.10
R0173:Sorl1	UTSW	9	41,979,229 (GRCm39)	missense	probably damaging	0.99
R0318:Sorl1	UTSW	9	41,993,250 (GRCm39)	missense	probably damaging	1.00
R0385:Sorl1	UTSW	9	41,943,205 (GRCm39)	missense	probably damaging	0.99
R0448:Sorl1	UTSW	9	41,915,384 (GRCm39)	missense	probably damaging	1.00
R0492:Sorl1	UTSW	9	41,902,667 (GRCm39)	missense	probably null	0.00
R0512:Sorl1	UTSW	9	41,979,128 (GRCm39)	missense	probably benign	0.01
R0587:Sorl1	UTSW	9	41,895,802 (GRCm39)	missense	probably damaging	1.00
R0600:Sorl1	UTSW	9	41,955,196 (GRCm39)	splice site	probably benign
R0831:Sorl1	UTSW	9	41,982,365 (GRCm39)	splice site	probably benign
R0924:Sorl1	UTSW	9	41,919,470 (GRCm39)	splice site	probably benign
R1013:Sorl1	UTSW	9	41,913,855 (GRCm39)	missense	probably benign	0.00
R1053:Sorl1	UTSW	9	41,902,752 (GRCm39)	missense	probably benign
R1077:Sorl1	UTSW	9	41,925,786 (GRCm39)	missense	probably damaging	1.00
R1326:Sorl1	UTSW	9	41,943,092 (GRCm39)	missense	probably benign	0.14
R1348:Sorl1	UTSW	9	41,911,708 (GRCm39)	splice site	probably null
R1498:Sorl1	UTSW	9	41,952,369 (GRCm39)	missense	probably damaging	1.00
R1671:Sorl1	UTSW	9	41,885,296 (GRCm39)	missense	probably damaging	1.00
R1713:Sorl1	UTSW	9	41,907,538 (GRCm39)	missense	probably benign	0.06
R1738:Sorl1	UTSW	9	42,001,261 (GRCm39)	missense	probably benign	0.33
R1779:Sorl1	UTSW	9	41,902,778 (GRCm39)	critical splice acceptor site	probably null
R1871:Sorl1	UTSW	9	41,881,021 (GRCm39)	nonsense	probably null
R1912:Sorl1	UTSW	9	41,993,246 (GRCm39)	missense	probably damaging	1.00
R1952:Sorl1	UTSW	9	41,957,920 (GRCm39)	missense	probably benign
R2071:Sorl1	UTSW	9	41,890,753 (GRCm39)	missense	possibly damaging	0.71
R2153:Sorl1	UTSW	9	41,895,788 (GRCm39)	missense	probably benign	0.01
R2417:Sorl1	UTSW	9	41,892,007 (GRCm39)	missense	probably damaging	0.96
R2429:Sorl1	UTSW	9	41,948,366 (GRCm39)	missense	probably damaging	1.00
R2866:Sorl1	UTSW	9	41,881,077 (GRCm39)	missense	probably benign
R3815:Sorl1	UTSW	9	41,975,345 (GRCm39)	missense	possibly damaging	0.71
R3816:Sorl1	UTSW	9	41,975,345 (GRCm39)	missense	possibly damaging	0.71
R3817:Sorl1	UTSW	9	41,975,345 (GRCm39)	missense	possibly damaging	0.71
R3819:Sorl1	UTSW	9	41,975,345 (GRCm39)	missense	possibly damaging	0.71
R3890:Sorl1	UTSW	9	41,915,401 (GRCm39)	missense	probably damaging	1.00
R3941:Sorl1	UTSW	9	41,900,764 (GRCm39)	critical splice acceptor site	probably null
R4409:Sorl1	UTSW	9	41,946,744 (GRCm39)	missense	probably damaging	0.99
R4410:Sorl1	UTSW	9	41,915,288 (GRCm39)	nonsense	probably null
R4610:Sorl1	UTSW	9	41,943,210 (GRCm39)	missense	possibly damaging	0.65
R4664:Sorl1	UTSW	9	41,915,347 (GRCm39)	missense	probably damaging	0.97
R4666:Sorl1	UTSW	9	41,915,347 (GRCm39)	missense	probably damaging	0.97
R4668:Sorl1	UTSW	9	41,895,804 (GRCm39)	missense	probably damaging	1.00
R4823:Sorl1	UTSW	9	41,903,617 (GRCm39)	missense	probably damaging	1.00
R4874:Sorl1	UTSW	9	41,975,048 (GRCm39)	missense	probably damaging	0.99
R4898:Sorl1	UTSW	9	41,952,935 (GRCm39)	missense	probably damaging	1.00
R4922:Sorl1	UTSW	9	41,925,746 (GRCm39)	splice site	probably null
R4976:Sorl1	UTSW	9	41,894,299 (GRCm39)	missense	probably benign	0.00
R4984:Sorl1	UTSW	9	41,902,638 (GRCm39)	missense	probably damaging	1.00
R5070:Sorl1	UTSW	9	41,943,114 (GRCm39)	missense	possibly damaging	0.82
R5084:Sorl1	UTSW	9	41,887,673 (GRCm39)	missense	probably benign	0.01
R5202:Sorl1	UTSW	9	41,944,879 (GRCm39)	missense	probably benign	0.00
R5265:Sorl1	UTSW	9	42,017,812 (GRCm39)	missense	possibly damaging	0.80
R5275:Sorl1	UTSW	9	41,942,198 (GRCm39)	missense	probably benign	0.33
R5368:Sorl1	UTSW	9	41,890,686 (GRCm39)	missense	probably benign	0.00
R5385:Sorl1	UTSW	9	41,968,580 (GRCm39)	missense	possibly damaging	0.83
R5386:Sorl1	UTSW	9	41,968,580 (GRCm39)	missense	possibly damaging	0.83
R5416:Sorl1	UTSW	9	41,913,932 (GRCm39)	nonsense	probably null
R5518:Sorl1	UTSW	9	41,948,508 (GRCm39)	missense	possibly damaging	0.92
R5545:Sorl1	UTSW	9	41,902,921 (GRCm39)	missense	probably benign	0.08
R5864:Sorl1	UTSW	9	42,003,669 (GRCm39)	missense	probably damaging	1.00
R5865:Sorl1	UTSW	9	41,894,330 (GRCm39)	missense	possibly damaging	0.94
R6339:Sorl1	UTSW	9	41,881,038 (GRCm39)	missense	probably benign	0.10
R6484:Sorl1	UTSW	9	41,887,703 (GRCm39)	missense	probably damaging	1.00
R6505:Sorl1	UTSW	9	41,982,530 (GRCm39)	missense	probably damaging	1.00
R6591:Sorl1	UTSW	9	41,913,863 (GRCm39)	missense	probably damaging	1.00
R6596:Sorl1	UTSW	9	41,912,899 (GRCm39)	missense	possibly damaging	0.81
R6654:Sorl1	UTSW	9	41,891,941 (GRCm39)	missense	possibly damaging	0.47
R6691:Sorl1	UTSW	9	41,913,863 (GRCm39)	missense	probably damaging	1.00
R6702:Sorl1	UTSW	9	41,982,497 (GRCm39)	missense	probably damaging	0.97
R6703:Sorl1	UTSW	9	41,982,497 (GRCm39)	missense	probably damaging	0.97
R6775:Sorl1	UTSW	9	42,003,748 (GRCm39)	missense	possibly damaging	0.93
R6792:Sorl1	UTSW	9	42,010,559 (GRCm39)	missense	probably damaging	1.00
R6852:Sorl1	UTSW	9	41,935,694 (GRCm39)	missense	possibly damaging	0.90
R6860:Sorl1	UTSW	9	41,933,688 (GRCm39)	missense	probably benign	0.01
R6925:Sorl1	UTSW	9	41,944,922 (GRCm39)	missense	probably damaging	1.00
R7022:Sorl1	UTSW	9	41,881,047 (GRCm39)	missense	probably benign	0.11
R7033:Sorl1	UTSW	9	41,942,279 (GRCm39)	missense	possibly damaging	0.93
R7091:Sorl1	UTSW	9	41,913,930 (GRCm39)	missense	probably benign	0.00
R7267:Sorl1	UTSW	9	42,035,375 (GRCm39)	missense	possibly damaging	0.63
R7269:Sorl1	UTSW	9	41,948,499 (GRCm39)	missense	probably damaging	0.99
R7272:Sorl1	UTSW	9	41,975,006 (GRCm39)	splice site	probably null
R7537:Sorl1	UTSW	9	41,891,984 (GRCm39)	missense	probably benign	0.01
R7615:Sorl1	UTSW	9	41,888,878 (GRCm39)	missense	possibly damaging	0.91
R7636:Sorl1	UTSW	9	42,003,630 (GRCm39)	missense	possibly damaging	0.90
R7727:Sorl1	UTSW	9	41,895,822 (GRCm39)	missense	probably damaging	1.00
R7763:Sorl1	UTSW	9	41,955,205 (GRCm39)	missense	probably damaging	1.00
R7831:Sorl1	UTSW	9	42,001,257 (GRCm39)	missense	probably benign	0.17
R7956:Sorl1	UTSW	9	41,900,655 (GRCm39)	missense	probably damaging	1.00
R7964:Sorl1	UTSW	9	41,902,697 (GRCm39)	missense	probably damaging	1.00
R7977:Sorl1	UTSW	9	41,888,857 (GRCm39)	missense	probably damaging	1.00
R7987:Sorl1	UTSW	9	41,888,857 (GRCm39)	missense	probably damaging	1.00
R8151:Sorl1	UTSW	9	41,979,229 (GRCm39)	missense	probably damaging	0.99
R8219:Sorl1	UTSW	9	41,952,857 (GRCm39)	splice site	probably null
R8261:Sorl1	UTSW	9	41,925,777 (GRCm39)	missense	probably damaging	1.00
R8283:Sorl1	UTSW	9	41,942,294 (GRCm39)	missense	probably damaging	1.00
R8308:Sorl1	UTSW	9	41,929,456 (GRCm39)	missense	probably damaging	1.00
R8348:Sorl1	UTSW	9	41,903,041 (GRCm39)	missense	probably benign	0.35
R8448:Sorl1	UTSW	9	41,903,041 (GRCm39)	missense	probably benign	0.35
R8524:Sorl1	UTSW	9	41,885,370 (GRCm39)	missense	probably damaging	1.00
R8869:Sorl1	UTSW	9	41,933,722 (GRCm39)	missense	probably benign	0.01
R8898:Sorl1	UTSW	9	41,911,567 (GRCm39)	missense	probably damaging	1.00
R8972:Sorl1	UTSW	9	41,957,848 (GRCm39)	missense	probably damaging	1.00
R9012:Sorl1	UTSW	9	41,982,491 (GRCm39)	missense	probably damaging	1.00
R9094:Sorl1	UTSW	9	41,975,050 (GRCm39)	missense	possibly damaging	0.92
R9241:Sorl1	UTSW	9	41,885,420 (GRCm39)	nonsense	probably null
R9278:Sorl1	UTSW	9	41,957,857 (GRCm39)	missense	probably benign	0.01
R9288:Sorl1	UTSW	9	41,952,927 (GRCm39)	missense	probably damaging	1.00
R9303:Sorl1	UTSW	9	41,900,739 (GRCm39)	missense	probably damaging	1.00
R9330:Sorl1	UTSW	9	41,979,229 (GRCm39)	missense	probably damaging	1.00
R9332:Sorl1	UTSW	9	41,912,814 (GRCm39)	missense	probably damaging	1.00
R9468:Sorl1	UTSW	9	42,035,384 (GRCm39)	missense	probably benign	0.20
R9528:Sorl1	UTSW	9	41,933,631 (GRCm39)	critical splice donor site	probably null
R9544:Sorl1	UTSW	9	41,993,105 (GRCm39)	nonsense	probably null
R9563:Sorl1	UTSW	9	41,957,893 (GRCm39)	missense	probably damaging	1.00
R9564:Sorl1	UTSW	9	41,957,893 (GRCm39)	missense	probably damaging	1.00
R9588:Sorl1	UTSW	9	41,993,105 (GRCm39)	nonsense	probably null
R9634:Sorl1	UTSW	9	41,907,590 (GRCm39)	missense	probably benign
R9671:Sorl1	UTSW	9	41,943,077 (GRCm39)	missense	possibly damaging	0.85
R9701:Sorl1	UTSW	9	42,003,766 (GRCm39)	missense	probably damaging	1.00
Z1176:Sorl1	UTSW	9	42,035,244 (GRCm39)	missense	probably benign	0.03
Z1176:Sorl1	UTSW	9	42,010,499 (GRCm39)	missense	possibly damaging	0.64
Z1177:Sorl1	UTSW	9	42,017,837 (GRCm39)	missense	probably benign	0.00
Z1177:Sorl1	UTSW	9	41,902,934 (GRCm39)	missense	possibly damaging	0.92
Z1177:Sorl1	UTSW	9	42,035,208 (GRCm39)	missense	probably damaging	1.00
Z31818:Sorl1	UTSW	9	41,952,892 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTACCCAAGGCAGACAGG -3'
(R):5'- GACCCTGTGATGTTGAGCTG -3'

Sequencing Primer
(F):5'- GCTGCCCAAAGACGAAGCTG -3'
(R):5'- TGGCTGGCTCAGAGCGTTC -3'

Posted On

2016-06-15