Incidental Mutation 'R7537:Sorl1'
ID 583664
Institutional Source Beutler Lab
Gene Symbol Sorl1
Ensembl Gene ENSMUSG00000049313
Gene Name sortilin-related receptor, LDLR class A repeats-containing
Synonyms 2900010L19Rik, mSorLA, Sorla, LR11
MMRRC Submission 045609-MU
Accession Numbers

Genbank: NM_011436; MGI: 1202296

Essential gene? Probably non essential (E-score: 0.244) question?
Stock # R7537 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 41964720-42124297 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41980688 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1889 (V1889I)
Ref Sequence ENSEMBL: ENSMUSP00000058613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060989]
AlphaFold O88307
Predicted Effect probably benign
Transcript: ENSMUST00000060989
AA Change: V1889I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000058613
Gene: ENSMUSG00000049313
AA Change: V1889I

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 122,173,988 (GRCm38) L2229P possibly damaging Het
Acaca T A 11: 84,260,634 (GRCm38) M786K probably damaging Het
Acta2 G A 19: 34,252,531 (GRCm38) T8I probably benign Het
Adap1 T G 5: 139,293,173 (GRCm38) E117D possibly damaging Het
Ap5z1 T C 5: 142,477,298 (GRCm38) S746P probably benign Het
Appl2 A G 10: 83,617,428 (GRCm38) I208T possibly damaging Het
Astn1 G A 1: 158,667,638 (GRCm38) probably null Het
Astn1 A G 1: 158,505,386 (GRCm38) E346G possibly damaging Het
Atp23 T A 10: 126,868,725 (GRCm38) I180L unknown Het
Bean1 CT C 8: 104,182,032 (GRCm38) probably null Het
Cdh23 A T 10: 60,384,945 (GRCm38) I1340N probably benign Het
Cdh8 G A 8: 99,098,885 (GRCm38) Q493* probably null Het
Ces1g T C 8: 93,319,827 (GRCm38) I357V probably benign Het
Ddx46 A G 13: 55,650,478 (GRCm38) D226G probably damaging Het
Eea1 C T 10: 95,994,905 (GRCm38) Q143* probably null Het
Erlin2 G T 8: 27,031,772 (GRCm38) probably null Het
Fat3 T A 9: 15,938,319 (GRCm38) D3929V probably damaging Het
Flt3 T C 5: 147,334,437 (GRCm38) D898G probably damaging Het
Gm16519 A G 17: 70,929,356 (GRCm38) N100S probably benign Het
Gnl1 A G 17: 35,988,536 (GRCm38) H533R probably damaging Het
Gphn A G 12: 78,504,680 (GRCm38) T301A possibly damaging Het
Herc2 C T 7: 56,219,779 (GRCm38) R4295* probably null Het
Insm2 T C 12: 55,599,518 (GRCm38) S16P possibly damaging Het
Jak2 C T 19: 29,298,637 (GRCm38) T778I probably benign Het
Lrriq3 A G 3: 155,101,097 (GRCm38) T128A probably damaging Het
Lst1 A G 17: 35,186,944 (GRCm38) probably null Het
Magi1 G T 6: 93,708,110 (GRCm38) Y762* probably null Het
Man2b1 T A 8: 85,090,965 (GRCm38) C358* probably null Het
Mga T C 2: 119,935,551 (GRCm38) V1432A probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Morc2a C T 11: 3,683,566 (GRCm38) Q587* probably null Het
Mrc2 T C 11: 105,292,797 (GRCm38) I4T probably benign Het
Muc16 C A 9: 18,638,135 (GRCm38) V5621F probably benign Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Myo3b A G 2: 70,217,169 (GRCm38) R340G probably benign Het
Nipal3 T C 4: 135,490,937 (GRCm38) Y34C probably damaging Het
Nktr T A 9: 121,749,279 (GRCm38) D804E unknown Het
Nlrp4b A G 7: 10,714,889 (GRCm38) M340V probably benign Het
Olfr1039 A G 2: 86,131,264 (GRCm38) V133A probably benign Het
Olfr385 T A 11: 73,589,268 (GRCm38) T157S probably benign Het
Olfr680-ps1 A T 7: 105,092,771 (GRCm38) M16K probably benign Het
Olfr701 G A 7: 106,818,374 (GRCm38) C97Y probably damaging Het
Pard3 T A 8: 127,610,582 (GRCm38) N1271K probably damaging Het
Pcdhb11 A T 18: 37,421,619 (GRCm38) M1L possibly damaging Het
Pclo T C 5: 14,682,104 (GRCm38) V3540A unknown Het
Pemt A G 11: 59,976,844 (GRCm38) F154S probably damaging Het
Ptpn18 G A 1: 34,473,364 (GRCm38) D417N possibly damaging Het
Rnpc3 G T 3: 113,613,832 (GRCm38) T376K probably benign Het
Rpe65 A G 3: 159,604,609 (GRCm38) Y143C probably damaging Het
Sbk2 T C 7: 4,963,149 (GRCm38) E12G probably benign Het
Slc2a5 T C 4: 150,129,069 (GRCm38) I106T possibly damaging Het
Snx13 A G 12: 35,085,982 (GRCm38) D92G probably damaging Het
Spag17 A T 3: 99,939,247 (GRCm38) N29I possibly damaging Het
Speg T C 1: 75,401,464 (GRCm38) V878A probably damaging Het
Timp4 A G 6: 115,250,460 (GRCm38) S53P probably damaging Het
Tssk1 G T 16: 17,895,084 (GRCm38) E244D probably benign Het
Usp29 A C 7: 6,961,220 (GRCm38) T21P possibly damaging Het
Vmn2r85 A T 10: 130,422,866 (GRCm38) V440E probably benign Het
Wdr59 T C 8: 111,490,369 (GRCm38) D270G Het
Zbbx G A 3: 75,085,519 (GRCm38) P223S probably damaging Het
Zfp936 T A 7: 43,189,815 (GRCm38) C235* probably null Het
Zranb3 A T 1: 128,032,847 (GRCm38) probably null Het
Other mutations in Sorl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02154:Sorl1 APN 9 42,004,034 (GRCm38) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CACTTAGGAAACTGGCTGTGG -3'
(R):5'- TCAGCATTCTAAAGGCAGAGGG -3'

Sequencing Primer
(F):5'- ACTGGCTGTGGGAACTTACAC -3'
(R):5'- TCTAAAGGCAGAGGGAGTATTTCTC -3'
Posted On 2019-10-17