Mutagenetix > Incidental Mutation

Incidental Mutation 'R5864:Sorl1'

454069

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R5864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41876016-42035593 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42003669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 209 (L209P)

Ref Sequence

ENSEMBL: ENSMUSP00000058613 (fasta)

Gene Model

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

AlphaFold

O88307

Predicted Effect

probably damaging
Transcript: ENSMUST00000060989
AA Change: L209P

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

SMART Domains

Protein: ENSMUSP00000058613
Gene: ENSMUSG00000049313
AA Change: L209P

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	T	12: 84,090,178 (GRCm39)	I292F	probably benign	Het
Adamdec1	A	G	14: 68,807,551 (GRCm39)	S370P	probably damaging	Het
Ankar	T	C	1: 72,698,324 (GRCm39)	K692R	probably benign	Het
Ano6	T	C	15: 95,818,261 (GRCm39)		probably null	Het
Asns	G	A	6: 7,675,443 (GRCm39)	Q520*	probably null	Het
Bbs12	C	T	3: 37,373,639 (GRCm39)	T144I	probably damaging	Het
C8g	C	T	2: 25,388,955 (GRCm39)	G186D	probably damaging	Het
Clptm1l	T	C	13: 73,754,403 (GRCm39)	F109S	probably damaging	Het
Coa8	G	A	12: 111,717,652 (GRCm39)	V171I	probably benign	Het
Col4a1	G	A	8: 11,252,973 (GRCm39)		probably benign	Het
Cpn2	T	C	16: 30,078,501 (GRCm39)	D400G	probably damaging	Het
Dgke	G	C	11: 88,941,288 (GRCm39)	Y298*	probably null	Het
Dnah5	G	A	15: 28,297,159 (GRCm39)	R1451Q	possibly damaging	Het
Dock8	A	G	19: 25,038,584 (GRCm39)	D90G	probably damaging	Het
Dok7	A	C	5: 35,223,890 (GRCm39)	D143A	probably damaging	Het
Elk3	G	A	10: 93,120,653 (GRCm39)	A62V	probably damaging	Het
Epha2	T	A	4: 141,035,738 (GRCm39)	M58K	probably damaging	Het
Erp27	G	T	6: 136,885,098 (GRCm39)	D233E	probably benign	Het
Gm5174	T	A	10: 86,493,045 (GRCm39)		noncoding transcript	Het
Gxylt2	A	G	6: 100,760,107 (GRCm39)	D214G	probably damaging	Het
Hrob	G	A	11: 102,145,972 (GRCm39)	E83K	probably benign	Het
Ifi35	A	T	11: 101,349,069 (GRCm39)	I238F	probably damaging	Het
Ighmbp2	T	C	19: 3,311,467 (GRCm39)	T983A	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Lrp1	C	A	10: 127,403,374 (GRCm39)	K2066N	possibly damaging	Het
Mansc1	T	G	6: 134,587,816 (GRCm39)		probably null	Het
Mapre3	T	C	5: 31,020,582 (GRCm39)	F101S	probably damaging	Het
Mettl8	T	C	2: 70,812,357 (GRCm39)	T58A	probably benign	Het
Mical1	G	T	10: 41,362,064 (GRCm39)	R857L	possibly damaging	Het
Nacad	T	C	11: 6,550,581 (GRCm39)	D870G	probably benign	Het
Nectin1	A	G	9: 43,702,607 (GRCm39)	D118G	probably damaging	Het
Nlrp2	A	T	7: 5,325,380 (GRCm39)	L26Q	probably damaging	Het
Or10a3m	A	G	7: 108,312,671 (GRCm39)	D25G	probably benign	Het
Pamr1	T	C	2: 102,464,693 (GRCm39)	S281P	possibly damaging	Het
Pcdhgc5	T	A	18: 37,954,814 (GRCm39)	V696E	probably damaging	Het
Pde4d	G	T	13: 110,074,582 (GRCm39)	A396S	probably benign	Het
Pecam1	G	T	11: 106,575,076 (GRCm39)	C510*	probably null	Het
Pga5	C	T	19: 10,652,513 (GRCm39)	G76S	probably damaging	Het
Phldb3	A	T	7: 24,323,571 (GRCm39)	H435L	possibly damaging	Het
Piezo1	T	C	8: 123,213,112 (GRCm39)	R1884G	possibly damaging	Het
Ripk4	T	C	16: 97,564,782 (GRCm39)	H43R	probably damaging	Het
Rtn3	A	G	19: 7,412,476 (GRCm39)	V785A	probably damaging	Het
Safb2	A	G	17: 56,873,491 (GRCm39)		probably benign	Het
Sephs1	T	C	2: 4,910,393 (GRCm39)	F288L	probably damaging	Het
Sez6l	A	G	5: 112,586,266 (GRCm39)		probably null	Het
Siglece	A	G	7: 43,308,741 (GRCm39)	L204P	probably damaging	Het
Sis	T	C	3: 72,857,151 (GRCm39)	D380G	probably damaging	Het
Slamf9	G	T	1: 172,304,033 (GRCm39)	R126L	probably benign	Het
Sptbn1	A	C	11: 30,095,925 (GRCm39)	I310S	probably damaging	Het
Tex52	A	G	6: 128,356,645 (GRCm39)	T113A	probably benign	Het
Trav6-3	T	A	14: 53,667,628 (GRCm39)	Y33*	probably null	Het
Vmn2r102	A	G	17: 19,914,943 (GRCm39)	E836G	possibly damaging	Het
Wdsub1	C	T	2: 59,708,819 (GRCm39)	C18Y	probably damaging	Het
Zfp341	C	A	2: 154,485,474 (GRCm39)	H637N	possibly damaging	Het
Zfp445	C	T	9: 122,682,552 (GRCm39)	S463N	probably benign	Het
Zfp612	G	A	8: 110,816,358 (GRCm39)	D522N	probably damaging	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
R5046:Sorl1	UTSW	9	41,907,590 (GRCm39)	missense	probably benign
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
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'- CCAAGCAGAGCAGAGGATTTC -3'
(R):5'- TCACCCAGGGTTACTTGGAC -3'

Sequencing Primer
(F):5'- TGTACATGCGTGAACACACAC -3'
(R):5'- ACTTGGACATGGTTTGGGGAC -3'

Posted On

2017-02-10