Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02154:Sorl1'

282167

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sorl1

Ensembl Gene

ENSMUSG00000049313

Gene Name

sortilin-related receptor, LDLR class A repeats-containing

Synonyms

2900010L19Rik, mSorLA, Sorla, LR11

Accession Numbers

Genbank: NM_011436; MGI: 1202296

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

IGL02154

Quality Score

Status

Chromosome

Chromosomal Location

41964720-42124297 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42004034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1300 (V1300I)

Ref Sequence

ENSEMBL: ENSMUSP00000058613 (fasta)

Gene Model

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

AlphaFold

O88307

Predicted Effect

probably benign
Transcript: ENSMUST00000060989
AA Change: V1300I

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

SMART Domains

Protein: ENSMUSP00000058613
Gene: ENSMUSG00000049313
AA Change: V1300I

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	G	A	14: 49,772,942 (GRCm38)	T436I	possibly damaging	Het
Armc3	G	A	2: 19,286,137 (GRCm38)		probably null	Het
AW551984	G	A	9: 39,589,102 (GRCm38)	R787C	possibly damaging	Het
Cadm1	A	T	9: 47,813,903 (GRCm38)	I321L	probably benign	Het
Cfap57	A	G	4: 118,613,017 (GRCm38)	L222P	probably damaging	Het
Cox20	A	G	1: 178,322,554 (GRCm38)	I98V	probably benign	Het
Dmrta1	A	G	4: 89,691,913 (GRCm38)	N370S	probably benign	Het
Dnah17	A	G	11: 118,124,261 (GRCm38)	F386L	probably benign	Het
Fam135b	T	C	15: 71,448,710 (GRCm38)	I1323V	probably benign	Het
Fndc3b	A	G	3: 27,538,117 (GRCm38)	S211P	probably damaging	Het
Galnt10	T	G	11: 57,784,705 (GRCm38)	L597V	probably damaging	Het
Gtf2e2	T	C	8: 33,755,961 (GRCm38)		probably null	Het
Inpp4b	T	A	8: 81,969,501 (GRCm38)		probably benign	Het
Lacc1	A	G	14: 77,033,287 (GRCm38)	V269A	probably benign	Het
Lrmp	T	G	6: 145,138,241 (GRCm38)	M44R	possibly damaging	Het
Mdn1	A	G	4: 32,740,395 (GRCm38)	D3750G	probably benign	Het
Mme	A	T	3: 63,343,555 (GRCm38)	Q339L	probably benign	Het
Mmp3	A	T	9: 7,453,662 (GRCm38)	I428L	probably benign	Het
Myrf	A	T	19: 10,216,118 (GRCm38)	I558N	probably damaging	Het
Olfr671	C	T	7: 104,975,981 (GRCm38)	M1I	probably null	Het
Phb	A	G	11: 95,675,171 (GRCm38)	I94V	possibly damaging	Het
Prg4	T	A	1: 150,454,862 (GRCm38)		probably benign	Het
Sirpb1a	T	C	3: 15,410,444 (GRCm38)	T344A	probably damaging	Het
Skap2	T	C	6: 52,012,328 (GRCm38)		probably benign	Het
Slc29a1	A	G	17: 45,586,163 (GRCm38)	I399T	probably damaging	Het
Tas2r117	T	C	6: 132,803,715 (GRCm38)	V272A	probably benign	Het
Tctn2	C	A	5: 124,608,561 (GRCm38)		noncoding transcript	Het
Tmem51	T	C	4: 142,031,778 (GRCm38)	N220D	probably damaging	Het
Trak2	T	C	1: 58,908,729 (GRCm38)	D584G	probably damaging	Het
Vmn1r78	A	G	7: 12,152,545 (GRCm38)	I28V	probably benign	Het
Vmn2r95	A	C	17: 18,451,986 (GRCm38)	I662L	probably benign	Het
Vwa8	C	A	14: 78,849,293 (GRCm38)	R4S	possibly damaging	Het

Other mutations in Sorl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Sorl1	APN	9	41,974,094 (GRCm38)	missense	probably damaging	1.00
IGL01303:Sorl1	APN	9	42,024,478 (GRCm38)	splice site	probably benign
IGL01545:Sorl1	APN	9	42,043,956 (GRCm38)	missense	probably damaging	1.00
IGL01629:Sorl1	APN	9	42,057,269 (GRCm38)	critical splice donor site	probably null
IGL01670:Sorl1	APN	9	42,001,492 (GRCm38)	missense	possibly damaging	0.81
IGL01684:Sorl1	APN	9	41,980,711 (GRCm38)	missense	probably damaging	0.96
IGL02215:Sorl1	APN	9	42,018,182 (GRCm38)	missense	probably damaging	0.97
IGL02427:Sorl1	APN	9	42,041,690 (GRCm38)	missense	probably damaging	1.00
IGL02590:Sorl1	APN	9	42,046,561 (GRCm38)	missense	probably benign	0.01
IGL02794:Sorl1	APN	9	42,063,774 (GRCm38)	missense	probably damaging	0.98
IGL02797:Sorl1	APN	9	42,037,059 (GRCm38)	missense	probably damaging	0.99
IGL02987:Sorl1	APN	9	42,041,053 (GRCm38)	missense	probably damaging	1.00
IGL03005:Sorl1	APN	9	42,057,325 (GRCm38)	missense	probably damaging	1.00
IGL03069:Sorl1	APN	9	41,991,426 (GRCm38)	missense	probably benign
IGL03288:Sorl1	APN	9	42,033,562 (GRCm38)	splice site	probably benign
N/A - 287:Sorl1	UTSW	9	42,041,596 (GRCm38)	nonsense	probably null
PIT4151001:Sorl1	UTSW	9	41,968,622 (GRCm38)	missense	probably damaging	1.00
R0117:Sorl1	UTSW	9	42,033,577 (GRCm38)	missense	probably benign	0.10
R0173:Sorl1	UTSW	9	42,067,933 (GRCm38)	missense	probably damaging	0.99
R0318:Sorl1	UTSW	9	42,081,954 (GRCm38)	missense	probably damaging	1.00
R0385:Sorl1	UTSW	9	42,031,909 (GRCm38)	missense	probably damaging	0.99
R0448:Sorl1	UTSW	9	42,004,088 (GRCm38)	missense	probably damaging	1.00
R0492:Sorl1	UTSW	9	41,991,371 (GRCm38)	missense	probably null	0.00
R0512:Sorl1	UTSW	9	42,067,832 (GRCm38)	missense	probably benign	0.01
R0587:Sorl1	UTSW	9	41,984,506 (GRCm38)	missense	probably damaging	1.00
R0600:Sorl1	UTSW	9	42,043,900 (GRCm38)	splice site	probably benign
R0831:Sorl1	UTSW	9	42,071,069 (GRCm38)	splice site	probably benign
R0924:Sorl1	UTSW	9	42,008,174 (GRCm38)	splice site	probably benign
R1013:Sorl1	UTSW	9	42,002,559 (GRCm38)	missense	probably benign	0.00
R1053:Sorl1	UTSW	9	41,991,456 (GRCm38)	missense	probably benign
R1077:Sorl1	UTSW	9	42,014,490 (GRCm38)	missense	probably damaging	1.00
R1326:Sorl1	UTSW	9	42,031,796 (GRCm38)	missense	probably benign	0.14
R1348:Sorl1	UTSW	9	42,000,412 (GRCm38)	splice site	probably null
R1498:Sorl1	UTSW	9	42,041,073 (GRCm38)	missense	probably damaging	1.00
R1671:Sorl1	UTSW	9	41,974,000 (GRCm38)	missense	probably damaging	1.00
R1713:Sorl1	UTSW	9	41,996,242 (GRCm38)	missense	probably benign	0.06
R1738:Sorl1	UTSW	9	42,089,965 (GRCm38)	missense	probably benign	0.33
R1779:Sorl1	UTSW	9	41,991,482 (GRCm38)	critical splice acceptor site	probably null
R1871:Sorl1	UTSW	9	41,969,725 (GRCm38)	nonsense	probably null
R1912:Sorl1	UTSW	9	42,081,950 (GRCm38)	missense	probably damaging	1.00
R1952:Sorl1	UTSW	9	42,046,624 (GRCm38)	missense	probably benign
R2071:Sorl1	UTSW	9	41,979,457 (GRCm38)	missense	possibly damaging	0.71
R2153:Sorl1	UTSW	9	41,984,492 (GRCm38)	missense	probably benign	0.01
R2417:Sorl1	UTSW	9	41,980,711 (GRCm38)	missense	probably damaging	0.96
R2429:Sorl1	UTSW	9	42,037,070 (GRCm38)	missense	probably damaging	1.00
R2866:Sorl1	UTSW	9	41,969,781 (GRCm38)	missense	probably benign
R3815:Sorl1	UTSW	9	42,064,049 (GRCm38)	missense	possibly damaging	0.71
R3816:Sorl1	UTSW	9	42,064,049 (GRCm38)	missense	possibly damaging	0.71
R3817:Sorl1	UTSW	9	42,064,049 (GRCm38)	missense	possibly damaging	0.71
R3819:Sorl1	UTSW	9	42,064,049 (GRCm38)	missense	possibly damaging	0.71
R3890:Sorl1	UTSW	9	42,004,105 (GRCm38)	missense	probably damaging	1.00
R3941:Sorl1	UTSW	9	41,989,468 (GRCm38)	critical splice acceptor site	probably null
R4409:Sorl1	UTSW	9	42,035,448 (GRCm38)	missense	probably damaging	0.99
R4410:Sorl1	UTSW	9	42,003,992 (GRCm38)	nonsense	probably null
R4610:Sorl1	UTSW	9	42,031,914 (GRCm38)	missense	possibly damaging	0.65
R4664:Sorl1	UTSW	9	42,004,051 (GRCm38)	missense	probably damaging	0.97
R4666:Sorl1	UTSW	9	42,004,051 (GRCm38)	missense	probably damaging	0.97
R4668:Sorl1	UTSW	9	41,984,508 (GRCm38)	missense	probably damaging	1.00
R4823:Sorl1	UTSW	9	41,992,321 (GRCm38)	missense	probably damaging	1.00
R4874:Sorl1	UTSW	9	42,063,752 (GRCm38)	missense	probably damaging	0.99
R4898:Sorl1	UTSW	9	42,041,639 (GRCm38)	missense	probably damaging	1.00
R4922:Sorl1	UTSW	9	42,014,450 (GRCm38)	splice site	probably null
R4976:Sorl1	UTSW	9	41,983,003 (GRCm38)	missense	probably benign	0.00
R4984:Sorl1	UTSW	9	41,991,342 (GRCm38)	missense	probably damaging	1.00
R5046:Sorl1	UTSW	9	41,996,294 (GRCm38)	missense	probably benign
R5070:Sorl1	UTSW	9	42,031,818 (GRCm38)	missense	possibly damaging	0.82
R5084:Sorl1	UTSW	9	41,976,377 (GRCm38)	missense	probably benign	0.01
R5202:Sorl1	UTSW	9	42,033,583 (GRCm38)	missense	probably benign	0.00
R5265:Sorl1	UTSW	9	42,106,516 (GRCm38)	missense	possibly damaging	0.80
R5275:Sorl1	UTSW	9	42,030,902 (GRCm38)	missense	probably benign	0.33
R5368:Sorl1	UTSW	9	41,979,390 (GRCm38)	missense	probably benign	0.00
R5385:Sorl1	UTSW	9	42,057,284 (GRCm38)	missense	possibly damaging	0.83
R5386:Sorl1	UTSW	9	42,057,284 (GRCm38)	missense	possibly damaging	0.83
R5416:Sorl1	UTSW	9	42,002,636 (GRCm38)	nonsense	probably null
R5518:Sorl1	UTSW	9	42,037,212 (GRCm38)	missense	possibly damaging	0.92
R5545:Sorl1	UTSW	9	41,991,625 (GRCm38)	missense	probably benign	0.08
R5864:Sorl1	UTSW	9	42,092,373 (GRCm38)	missense	probably damaging	1.00
R5865:Sorl1	UTSW	9	41,983,034 (GRCm38)	missense	possibly damaging	0.94
R6339:Sorl1	UTSW	9	41,969,742 (GRCm38)	missense	probably benign	0.10
R6484:Sorl1	UTSW	9	41,976,407 (GRCm38)	missense	probably damaging	1.00
R6505:Sorl1	UTSW	9	42,071,234 (GRCm38)	missense	probably damaging	1.00
R6591:Sorl1	UTSW	9	42,002,567 (GRCm38)	missense	probably damaging	1.00
R6596:Sorl1	UTSW	9	42,001,603 (GRCm38)	missense	possibly damaging	0.81
R6654:Sorl1	UTSW	9	41,980,645 (GRCm38)	missense	possibly damaging	0.47
R6691:Sorl1	UTSW	9	42,002,567 (GRCm38)	missense	probably damaging	1.00
R6702:Sorl1	UTSW	9	42,071,201 (GRCm38)	missense	probably damaging	0.97
R6703:Sorl1	UTSW	9	42,071,201 (GRCm38)	missense	probably damaging	0.97
R6775:Sorl1	UTSW	9	42,092,452 (GRCm38)	missense	possibly damaging	0.93
R6792:Sorl1	UTSW	9	42,099,263 (GRCm38)	missense	probably damaging	1.00
R6852:Sorl1	UTSW	9	42,024,398 (GRCm38)	missense	possibly damaging	0.90
R6860:Sorl1	UTSW	9	42,022,392 (GRCm38)	missense	probably benign	0.01
R6925:Sorl1	UTSW	9	42,033,626 (GRCm38)	missense	probably damaging	1.00
R7022:Sorl1	UTSW	9	41,969,751 (GRCm38)	missense	probably benign	0.11
R7033:Sorl1	UTSW	9	42,030,983 (GRCm38)	missense	possibly damaging	0.93
R7091:Sorl1	UTSW	9	42,002,634 (GRCm38)	missense	probably benign	0.00
R7267:Sorl1	UTSW	9	42,124,079 (GRCm38)	missense	possibly damaging	0.63
R7269:Sorl1	UTSW	9	42,037,203 (GRCm38)	missense	probably damaging	0.99
R7272:Sorl1	UTSW	9	42,063,710 (GRCm38)	splice site	probably null
R7537:Sorl1	UTSW	9	41,980,688 (GRCm38)	missense	probably benign	0.01
R7615:Sorl1	UTSW	9	41,977,582 (GRCm38)	missense	possibly damaging	0.91
R7636:Sorl1	UTSW	9	42,092,334 (GRCm38)	missense	possibly damaging	0.90
R7727:Sorl1	UTSW	9	41,984,526 (GRCm38)	missense	probably damaging	1.00
R7763:Sorl1	UTSW	9	42,043,909 (GRCm38)	missense	probably damaging	1.00
R7831:Sorl1	UTSW	9	42,089,961 (GRCm38)	missense	probably benign	0.17
R7956:Sorl1	UTSW	9	41,989,359 (GRCm38)	missense	probably damaging	1.00
R7964:Sorl1	UTSW	9	41,991,401 (GRCm38)	missense	probably damaging	1.00
R7977:Sorl1	UTSW	9	41,977,561 (GRCm38)	missense	probably damaging	1.00
R7987:Sorl1	UTSW	9	41,977,561 (GRCm38)	missense	probably damaging	1.00
R8151:Sorl1	UTSW	9	42,067,933 (GRCm38)	missense	probably damaging	0.99
R8219:Sorl1	UTSW	9	42,041,561 (GRCm38)	splice site	probably null
R8261:Sorl1	UTSW	9	42,014,481 (GRCm38)	missense	probably damaging	1.00
R8283:Sorl1	UTSW	9	42,030,998 (GRCm38)	missense	probably damaging	1.00
R8308:Sorl1	UTSW	9	42,018,160 (GRCm38)	missense	probably damaging	1.00
R8348:Sorl1	UTSW	9	41,991,745 (GRCm38)	missense	probably benign	0.35
R8448:Sorl1	UTSW	9	41,991,745 (GRCm38)	missense	probably benign	0.35
R8524:Sorl1	UTSW	9	41,974,074 (GRCm38)	missense	probably damaging	1.00
R8869:Sorl1	UTSW	9	42,022,426 (GRCm38)	missense	probably benign	0.01
R8898:Sorl1	UTSW	9	42,000,271 (GRCm38)	missense	probably damaging	1.00
R8972:Sorl1	UTSW	9	42,046,552 (GRCm38)	missense	probably damaging	1.00
R9012:Sorl1	UTSW	9	42,071,195 (GRCm38)	missense	probably damaging	1.00
R9094:Sorl1	UTSW	9	42,063,754 (GRCm38)	missense	possibly damaging	0.92
R9241:Sorl1	UTSW	9	41,974,124 (GRCm38)	nonsense	probably null
R9278:Sorl1	UTSW	9	42,046,561 (GRCm38)	missense	probably benign	0.01
R9288:Sorl1	UTSW	9	42,041,631 (GRCm38)	missense	probably damaging	1.00
R9303:Sorl1	UTSW	9	41,989,443 (GRCm38)	missense	probably damaging	1.00
R9330:Sorl1	UTSW	9	42,067,933 (GRCm38)	missense	probably damaging	1.00
R9332:Sorl1	UTSW	9	42,001,518 (GRCm38)	missense	probably damaging	1.00
R9468:Sorl1	UTSW	9	42,124,088 (GRCm38)	missense	probably benign	0.20
R9528:Sorl1	UTSW	9	42,022,335 (GRCm38)	critical splice donor site	probably null
R9544:Sorl1	UTSW	9	42,081,809 (GRCm38)	nonsense	probably null
R9563:Sorl1	UTSW	9	42,046,597 (GRCm38)	missense	probably damaging	1.00
R9564:Sorl1	UTSW	9	42,046,597 (GRCm38)	missense	probably damaging	1.00
R9588:Sorl1	UTSW	9	42,081,809 (GRCm38)	nonsense	probably null
R9634:Sorl1	UTSW	9	41,996,294 (GRCm38)	missense	probably benign
R9671:Sorl1	UTSW	9	42,031,781 (GRCm38)	missense	possibly damaging	0.85
R9701:Sorl1	UTSW	9	42,092,470 (GRCm38)	missense	probably damaging	1.00
Z1176:Sorl1	UTSW	9	42,123,948 (GRCm38)	missense	probably benign	0.03
Z1176:Sorl1	UTSW	9	42,099,203 (GRCm38)	missense	possibly damaging	0.64
Z1177:Sorl1	UTSW	9	42,106,541 (GRCm38)	missense	probably benign	0.00
Z1177:Sorl1	UTSW	9	41,991,638 (GRCm38)	missense	possibly damaging	0.92
Z1177:Sorl1	UTSW	9	42,123,912 (GRCm38)	missense	probably damaging	1.00
Z31818:Sorl1	UTSW	9	42,041,596 (GRCm38)	nonsense	probably null

Posted On

2015-04-16