Incidental Mutation 'R6262:Sort1'
ID 506741
Institutional Source Beutler Lab
Gene Symbol Sort1
Ensembl Gene ENSMUSG00000068747
Gene Name sortilin 1
Synonyms Ntsr3, neurotensin receptor 3, Ntr3, sortilin, 2900053A11Rik
MMRRC Submission 045016-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.810) question?
Stock # R6262 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 108191398-108268827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108217527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 143 (Y143C)
Ref Sequence ENSEMBL: ENSMUSP00000123564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102632] [ENSMUST00000135636]
AlphaFold Q6PHU5
Predicted Effect probably damaging
Transcript: ENSMUST00000102632
AA Change: Y143C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
AA Change: Y143C

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 59 79 N/A INTRINSIC
VPS10 131 743 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135636
AA Change: Y143C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
AA Change: Y143C

DomainStartEndE-ValueType
VPS10 1 218 2.3e-5 SMART
transmembrane domain 262 284 N/A INTRINSIC
Meta Mutation Damage Score 0.9414 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhbit increased protection from age- and injury-related neuron lose. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,092,917 (GRCm39) T289I probably benign Het
Abca2 T C 2: 25,334,922 (GRCm39) Y1965H possibly damaging Het
Adam26a T C 8: 44,022,125 (GRCm39) N455S possibly damaging Het
Art5 C T 7: 101,747,338 (GRCm39) G147D probably benign Het
Atp5f1a G A 18: 77,868,912 (GRCm39) V429M probably damaging Het
Calr4 A T 4: 109,108,564 (GRCm39) N213I probably damaging Het
Cchcr1 T C 17: 35,841,413 (GRCm39) S810P probably benign Het
Cdh4 A T 2: 179,439,419 (GRCm39) R189W probably damaging Het
Cdk5rap1 T C 2: 154,212,606 (GRCm39) D84G probably benign Het
Clasp2 T A 9: 113,705,420 (GRCm39) probably null Het
Cntnap2 T A 6: 45,037,046 (GRCm39) probably null Het
Cntnap4 T C 8: 113,529,843 (GRCm39) Y684H probably damaging Het
Cyp2a4 T A 7: 26,011,655 (GRCm39) V292E probably damaging Het
Dap A G 15: 31,235,960 (GRCm39) T10A probably benign Het
Dnah11 G A 12: 117,894,913 (GRCm39) R3645C probably damaging Het
Dnah9 A T 11: 65,772,631 (GRCm39) probably null Het
Efcab3 T A 11: 104,784,579 (GRCm39) M2787K probably benign Het
Efr3a T C 15: 65,729,323 (GRCm39) S675P possibly damaging Het
Gria1 A G 11: 57,133,680 (GRCm39) K451E probably damaging Het
Grin3b A T 10: 79,810,203 (GRCm39) M570L probably benign Het
Hs2st1 A G 3: 144,140,374 (GRCm39) F316L probably damaging Het
Hs6st3 A G 14: 119,376,403 (GRCm39) T193A possibly damaging Het
Hspg2 A T 4: 137,246,997 (GRCm39) D1108V probably damaging Het
Igf1r T A 7: 67,653,720 (GRCm39) L86Q probably damaging Het
Inpp5j A G 11: 3,452,615 (GRCm39) S212P probably benign Het
Junb A G 8: 85,704,359 (GRCm39) S234P possibly damaging Het
Lhx3 GTGTTGT GTGT 2: 26,092,435 (GRCm39) probably benign Het
Macf1 A G 4: 123,366,983 (GRCm39) S1028P possibly damaging Het
Met C A 6: 17,553,403 (GRCm39) A1063E probably benign Het
Mink1 T C 11: 70,494,151 (GRCm39) probably null Het
Mtor A G 4: 148,610,552 (GRCm39) E1621G possibly damaging Het
Mug2 T C 6: 122,052,214 (GRCm39) Y991H probably damaging Het
Neb T C 2: 52,198,699 (GRCm39) D414G probably damaging Het
Nkx6-3 T C 8: 23,643,863 (GRCm39) V88A probably benign Het
Nr3c2 A G 8: 77,635,262 (GRCm39) Q121R possibly damaging Het
Nup155 T C 15: 8,186,225 (GRCm39) V1329A probably benign Het
Or2d36 T C 7: 106,746,918 (GRCm39) Y132H probably damaging Het
Or5d35 T C 2: 87,855,738 (GRCm39) V224A probably benign Het
Pcdhb17 T A 18: 37,619,751 (GRCm39) F514I probably damaging Het
Pfkl A G 10: 77,824,507 (GRCm39) probably null Het
Prl8a1 A T 13: 27,758,126 (GRCm39) H194Q possibly damaging Het
Sh3tc1 C G 5: 35,857,117 (GRCm39) E1241Q probably damaging Het
Slc6a6 A T 6: 91,732,013 (GRCm39) H614L possibly damaging Het
Stat4 T A 1: 52,141,360 (GRCm39) W569R probably null Het
Taco1 A T 11: 105,962,693 (GRCm39) K127* probably null Het
Tas2r110 T C 6: 132,845,638 (GRCm39) I223T probably damaging Het
Tex21 A G 12: 76,259,306 (GRCm39) I329T probably damaging Het
Tmprss11b T C 5: 86,810,119 (GRCm39) H287R probably benign Het
Trim30a A G 7: 104,060,741 (GRCm39) L345P probably benign Het
Vmn1r62 G A 7: 5,678,556 (GRCm39) C79Y probably damaging Het
Vmn2r116 A G 17: 23,606,351 (GRCm39) K421R probably benign Het
Vwde C T 6: 13,205,020 (GRCm39) S287N probably damaging Het
Xrcc4 A T 13: 89,926,906 (GRCm39) M300K probably benign Het
Zan A T 5: 137,427,747 (GRCm39) probably null Het
Zbtb7c A G 18: 76,270,413 (GRCm39) D167G probably benign Het
Zfc3h1 A G 10: 115,249,881 (GRCm39) Y1165C probably damaging Het
Zfp326 T A 5: 106,036,353 (GRCm39) L88Q probably damaging Het
Zfp667 A G 7: 6,307,973 (GRCm39) T214A probably benign Het
Other mutations in Sort1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Sort1 APN 3 108,263,623 (GRCm39) missense probably damaging 0.99
IGL01677:Sort1 APN 3 108,252,201 (GRCm39) missense probably benign 0.05
IGL02532:Sort1 APN 3 108,233,036 (GRCm39) missense probably benign 0.44
IGL03354:Sort1 APN 3 108,256,022 (GRCm39) missense probably benign 0.00
R0266:Sort1 UTSW 3 108,252,247 (GRCm39) missense probably benign 0.09
R0277:Sort1 UTSW 3 108,231,908 (GRCm39) splice site probably benign
R0559:Sort1 UTSW 3 108,263,895 (GRCm39) missense probably damaging 1.00
R0597:Sort1 UTSW 3 108,246,226 (GRCm39) missense probably damaging 1.00
R0624:Sort1 UTSW 3 108,255,946 (GRCm39) missense probably damaging 1.00
R1803:Sort1 UTSW 3 108,233,015 (GRCm39) missense probably damaging 1.00
R1872:Sort1 UTSW 3 108,248,011 (GRCm39) missense probably benign 0.01
R1986:Sort1 UTSW 3 108,253,043 (GRCm39) missense possibly damaging 0.71
R2130:Sort1 UTSW 3 108,259,002 (GRCm39) missense probably benign
R2131:Sort1 UTSW 3 108,259,002 (GRCm39) missense probably benign
R2133:Sort1 UTSW 3 108,259,002 (GRCm39) missense probably benign
R2362:Sort1 UTSW 3 108,253,981 (GRCm39) missense possibly damaging 0.89
R3436:Sort1 UTSW 3 108,245,123 (GRCm39) missense probably damaging 1.00
R3548:Sort1 UTSW 3 108,245,225 (GRCm39) missense possibly damaging 0.83
R3700:Sort1 UTSW 3 108,263,955 (GRCm39) nonsense probably null
R4496:Sort1 UTSW 3 108,217,461 (GRCm39) missense probably benign 0.17
R4616:Sort1 UTSW 3 108,262,857 (GRCm39) missense possibly damaging 0.66
R4632:Sort1 UTSW 3 108,253,994 (GRCm39) missense probably damaging 1.00
R4749:Sort1 UTSW 3 108,263,639 (GRCm39) nonsense probably null
R4994:Sort1 UTSW 3 108,235,385 (GRCm39) missense probably damaging 0.99
R5187:Sort1 UTSW 3 108,231,992 (GRCm39) missense probably damaging 1.00
R5753:Sort1 UTSW 3 108,253,090 (GRCm39) missense probably damaging 1.00
R6019:Sort1 UTSW 3 108,264,549 (GRCm39) missense possibly damaging 0.77
R7369:Sort1 UTSW 3 108,258,996 (GRCm39) missense probably damaging 1.00
R7484:Sort1 UTSW 3 108,246,141 (GRCm39) missense probably damaging 1.00
R7512:Sort1 UTSW 3 108,233,323 (GRCm39) splice site probably null
R8076:Sort1 UTSW 3 108,246,183 (GRCm39) missense probably damaging 1.00
R8222:Sort1 UTSW 3 108,241,951 (GRCm39) missense probably benign
R8871:Sort1 UTSW 3 108,262,887 (GRCm39) critical splice donor site probably null
R8894:Sort1 UTSW 3 108,246,228 (GRCm39) missense probably damaging 1.00
R9169:Sort1 UTSW 3 108,247,994 (GRCm39) nonsense probably null
Z1177:Sort1 UTSW 3 108,191,696 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTCAGCTATGTTGCATTACAGG -3'
(R):5'- ACCTGGTGTCATCAACCTCC -3'

Sequencing Primer
(F):5'- GGTTTCTAGAAAGCAGAGCTGTC -3'
(R):5'- AACCTCCTCTCCTTCCAGGTAAG -3'
Posted On 2018-03-15