Incidental Mutation 'R8354:Sorcs2'
ID 660589
Institutional Source Beutler Lab
Gene Symbol Sorcs2
Ensembl Gene ENSMUSG00000029093
Gene Name sortilin-related VPS10 domain containing receptor 2
Synonyms VPS10 domain receptor protein
MMRRC Submission 067806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8354 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 36174524-36555483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36222753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 162 (H162R)
Ref Sequence ENSEMBL: ENSMUSP00000123543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037370] [ENSMUST00000135324]
AlphaFold Q9EPR5
Predicted Effect probably benign
Transcript: ENSMUST00000037370
AA Change: H334R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
AA Change: H334R

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
low complexity region 54 64 N/A INTRINSIC
low complexity region 89 103 N/A INTRINSIC
low complexity region 106 130 N/A INTRINSIC
VPS10 170 780 N/A SMART
PKD 782 872 7.27e-2 SMART
transmembrane domain 1078 1100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135324
AA Change: H162R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000123543
Gene: ENSMUSG00000029093
AA Change: H162R

DomainStartEndE-ValueType
SCOP:d1eur__ 1 111 2e-3 SMART
Blast:VPS10 1 173 1e-126 BLAST
PDB:4N7E|A 6 117 1e-8 PDB
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,676,297 (GRCm39) S353R probably damaging Het
Ap1ar T C 3: 127,606,428 (GRCm39) probably null Het
Asxl1 C A 2: 153,235,345 (GRCm39) N213K probably benign Het
Cacna1e A G 1: 154,274,314 (GRCm39) V2197A probably damaging Het
Cacna2d2 G A 9: 107,401,334 (GRCm39) E706K possibly damaging Het
Cfap46 C T 7: 139,233,414 (GRCm39) V296I probably benign Het
Cldn5 A G 16: 18,596,043 (GRCm39) T100A probably benign Het
Ctnna1 C A 18: 35,385,776 (GRCm39) N802K possibly damaging Het
Dennd2b G A 7: 109,124,755 (GRCm39) R675* probably null Het
Dip2c A G 13: 9,671,918 (GRCm39) T968A probably benign Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,147,614 (GRCm39) probably null Het
Dnah8 A T 17: 30,862,234 (GRCm39) D203V probably benign Het
Dnajc13 A G 9: 104,094,927 (GRCm39) M585T probably damaging Het
Donson G T 16: 91,480,685 (GRCm39) T262K possibly damaging Het
E2f3 T A 13: 30,169,787 (GRCm39) probably benign Het
Fam110c A G 12: 31,125,178 (GRCm39) E380G possibly damaging Het
Gbp9 T G 5: 105,242,027 (GRCm39) T177P probably damaging Het
Gins3 C T 8: 96,364,646 (GRCm39) A132V probably benign Het
Glra3 T A 8: 56,578,345 (GRCm39) Y467* probably null Het
Gm7138 A G 10: 77,612,444 (GRCm39) probably benign Het
Golim4 T C 3: 75,802,308 (GRCm39) E328G probably damaging Het
Habp2 T A 19: 56,301,388 (GRCm39) C270* probably null Het
Hecw2 A G 1: 53,964,467 (GRCm39) probably null Het
Hmcn1 A T 1: 150,634,142 (GRCm39) Y815N possibly damaging Het
Igfn1 A T 1: 135,887,619 (GRCm39) C2482S possibly damaging Het
Igkv4-71 A G 6: 69,220,260 (GRCm39) V57A probably damaging Het
Itpkb G A 1: 180,160,908 (GRCm39) E345K possibly damaging Het
Itpr3 G A 17: 27,334,893 (GRCm39) V2136M possibly damaging Het
Kcnh3 A G 15: 99,127,211 (GRCm39) T336A probably damaging Het
Kdm4d T C 9: 14,375,235 (GRCm39) T208A possibly damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Krt10 A G 11: 99,280,086 (GRCm39) probably benign Het
Lgals3bp T A 11: 118,289,367 (GRCm39) N28I probably damaging Het
Matn2 T C 15: 34,378,843 (GRCm39) L293P probably damaging Het
Mical3 T C 6: 120,950,381 (GRCm39) E1010G probably damaging Het
Mpp4 C A 1: 59,169,224 (GRCm39) R380L probably damaging Het
Msh5 A G 17: 35,250,742 (GRCm39) F469L possibly damaging Het
Ncam2 A G 16: 81,309,847 (GRCm39) T446A probably benign Het
Neurl4 A G 11: 69,800,062 (GRCm39) D1050G probably damaging Het
Olfml2b T C 1: 170,509,793 (GRCm39) Y714H possibly damaging Het
Or5d43 T C 2: 88,105,036 (GRCm39) D119G probably damaging Het
Or8c17 T C 9: 38,180,513 (GRCm39) S235P probably benign Het
Pcnx2 T C 8: 126,488,357 (GRCm39) E1729G probably damaging Het
Peg10 GCACATCAGGATCC GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC 6: 4,756,452 (GRCm39) probably benign Het
Pex1 T A 5: 3,681,707 (GRCm39) L1051Q probably damaging Het
Prkag2 T A 5: 25,074,137 (GRCm39) R283* probably null Het
Prrc1 T A 18: 57,504,503 (GRCm39) M238K probably damaging Het
Ptprj T C 2: 90,300,061 (GRCm39) T247A probably benign Het
Ptprz1 A G 6: 22,999,614 (GRCm39) Y568C probably damaging Het
Rab36 G A 10: 74,884,291 (GRCm39) A114T probably damaging Het
Rfx7 T C 9: 72,526,731 (GRCm39) V1307A probably benign Het
Scaf1 A C 7: 44,657,251 (GRCm39) probably benign Het
Sema4g A T 19: 44,986,866 (GRCm39) T440S probably benign Het
Setbp1 A T 18: 78,900,598 (GRCm39) V1023E probably damaging Het
Slc46a2 T C 4: 59,913,931 (GRCm39) I331V possibly damaging Het
Slc4a7 C T 14: 14,786,313 (GRCm38) R1000C probably damaging Het
Spata31f1e T A 4: 42,793,223 (GRCm39) H303L probably benign Het
Strip2 G A 6: 29,920,531 (GRCm39) probably null Het
Stx2 T A 5: 129,071,932 (GRCm39) I42L probably benign Het
Tas2r124 A T 6: 132,732,410 (GRCm39) T240S probably benign Het
Tgfbrap1 A T 1: 43,115,070 (GRCm39) V10D probably damaging Het
Tmem41a T A 16: 21,766,181 (GRCm39) Y19F probably benign Het
Tmprss5 A G 9: 49,018,439 (GRCm39) T74A possibly damaging Het
Trim16 G T 11: 62,727,587 (GRCm39) R216L probably benign Het
Trmt10c T C 16: 55,854,870 (GRCm39) K255R probably benign Het
Trpm2 A T 10: 77,769,483 (GRCm39) V747E probably damaging Het
Ube2v2 T C 16: 15,399,005 (GRCm39) D28G possibly damaging Het
Uty G A Y: 1,157,928 (GRCm39) T705I possibly damaging Het
Vmn2r80 A T 10: 78,984,710 (GRCm39) I21F probably benign Het
Wdr11 T C 7: 129,204,723 (GRCm39) L176S probably damaging Het
Zfp992 A G 4: 146,551,319 (GRCm39) T347A probably benign Het
Other mutations in Sorcs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Sorcs2 APN 5 36,194,745 (GRCm39) splice site probably null
IGL01064:Sorcs2 APN 5 36,222,696 (GRCm39) missense probably damaging 1.00
IGL01120:Sorcs2 APN 5 36,178,596 (GRCm39) missense probably damaging 0.99
IGL01730:Sorcs2 APN 5 36,205,153 (GRCm39) missense probably damaging 1.00
IGL02542:Sorcs2 APN 5 36,183,286 (GRCm39) missense probably damaging 0.98
IGL02730:Sorcs2 APN 5 36,219,896 (GRCm39) missense probably benign 0.11
IGL02965:Sorcs2 APN 5 36,235,301 (GRCm39) missense probably benign 0.13
IGL02997:Sorcs2 APN 5 36,225,492 (GRCm39) missense probably damaging 1.00
IGL03000:Sorcs2 APN 5 36,222,675 (GRCm39) unclassified probably benign
IGL03141:Sorcs2 APN 5 36,222,699 (GRCm39) missense probably benign 0.01
IGL03184:Sorcs2 APN 5 36,188,556 (GRCm39) missense probably benign 0.01
IGL03412:Sorcs2 APN 5 36,203,848 (GRCm39) missense probably damaging 1.00
R0180:Sorcs2 UTSW 5 36,311,189 (GRCm39) missense probably damaging 1.00
R0244:Sorcs2 UTSW 5 36,554,897 (GRCm39) splice site probably benign
R0345:Sorcs2 UTSW 5 36,185,218 (GRCm39) missense probably benign 0.01
R0519:Sorcs2 UTSW 5 36,188,534 (GRCm39) missense probably benign 0.08
R0624:Sorcs2 UTSW 5 36,222,777 (GRCm39) missense probably damaging 0.97
R0625:Sorcs2 UTSW 5 36,181,916 (GRCm39) missense possibly damaging 0.65
R1169:Sorcs2 UTSW 5 36,185,269 (GRCm39) missense possibly damaging 0.70
R1721:Sorcs2 UTSW 5 36,184,092 (GRCm39) missense probably damaging 0.98
R1809:Sorcs2 UTSW 5 36,386,564 (GRCm39) splice site probably benign
R1935:Sorcs2 UTSW 5 36,228,731 (GRCm39) missense possibly damaging 0.88
R1936:Sorcs2 UTSW 5 36,228,731 (GRCm39) missense possibly damaging 0.88
R2279:Sorcs2 UTSW 5 36,199,430 (GRCm39) splice site probably null
R3148:Sorcs2 UTSW 5 36,193,132 (GRCm39) missense probably benign 0.09
R3803:Sorcs2 UTSW 5 36,555,150 (GRCm39) missense probably benign 0.36
R3863:Sorcs2 UTSW 5 36,555,007 (GRCm39) nonsense probably null
R4092:Sorcs2 UTSW 5 36,183,166 (GRCm39) missense possibly damaging 0.92
R4620:Sorcs2 UTSW 5 36,194,838 (GRCm39) missense probably benign 0.00
R5079:Sorcs2 UTSW 5 36,200,796 (GRCm39) missense probably damaging 1.00
R5301:Sorcs2 UTSW 5 36,196,734 (GRCm39) missense probably damaging 1.00
R5470:Sorcs2 UTSW 5 36,188,527 (GRCm39) missense probably benign 0.00
R5568:Sorcs2 UTSW 5 36,203,874 (GRCm39) nonsense probably null
R5727:Sorcs2 UTSW 5 36,188,630 (GRCm39) missense possibly damaging 0.52
R5874:Sorcs2 UTSW 5 36,386,555 (GRCm39) missense probably damaging 1.00
R5890:Sorcs2 UTSW 5 36,386,535 (GRCm39) missense probably damaging 1.00
R5946:Sorcs2 UTSW 5 36,186,427 (GRCm39) missense probably damaging 1.00
R6005:Sorcs2 UTSW 5 36,176,728 (GRCm39) missense probably damaging 1.00
R6048:Sorcs2 UTSW 5 36,185,332 (GRCm39) splice site probably null
R6290:Sorcs2 UTSW 5 36,219,931 (GRCm39) missense probably damaging 1.00
R6292:Sorcs2 UTSW 5 36,219,931 (GRCm39) missense probably damaging 1.00
R6617:Sorcs2 UTSW 5 36,235,310 (GRCm39) missense probably damaging 1.00
R6681:Sorcs2 UTSW 5 36,555,154 (GRCm39) missense probably benign 0.00
R7024:Sorcs2 UTSW 5 36,178,605 (GRCm39) missense probably damaging 0.99
R7056:Sorcs2 UTSW 5 36,225,474 (GRCm39) missense probably damaging 1.00
R7569:Sorcs2 UTSW 5 36,183,220 (GRCm39) missense probably benign 0.01
R7641:Sorcs2 UTSW 5 36,555,296 (GRCm39) missense probably damaging 0.99
R7651:Sorcs2 UTSW 5 36,185,322 (GRCm39) missense probably damaging 1.00
R7674:Sorcs2 UTSW 5 36,555,296 (GRCm39) missense probably damaging 0.99
R7722:Sorcs2 UTSW 5 36,200,871 (GRCm39) missense probably damaging 1.00
R7748:Sorcs2 UTSW 5 36,386,519 (GRCm39) missense possibly damaging 0.56
R7764:Sorcs2 UTSW 5 36,181,416 (GRCm39) missense possibly damaging 0.48
R7813:Sorcs2 UTSW 5 36,181,958 (GRCm39) missense probably damaging 1.00
R8142:Sorcs2 UTSW 5 36,219,958 (GRCm39) missense possibly damaging 0.67
R8246:Sorcs2 UTSW 5 36,219,932 (GRCm39) missense probably damaging 1.00
R8254:Sorcs2 UTSW 5 36,195,550 (GRCm39) missense probably benign 0.00
R8349:Sorcs2 UTSW 5 36,386,519 (GRCm39) missense possibly damaging 0.56
R8350:Sorcs2 UTSW 5 36,311,207 (GRCm39) missense probably damaging 0.96
R8449:Sorcs2 UTSW 5 36,386,519 (GRCm39) missense possibly damaging 0.56
R8679:Sorcs2 UTSW 5 36,196,657 (GRCm39) missense probably benign 0.09
R8771:Sorcs2 UTSW 5 36,188,624 (GRCm39) missense probably damaging 1.00
R8935:Sorcs2 UTSW 5 36,193,202 (GRCm39) missense possibly damaging 0.79
R8964:Sorcs2 UTSW 5 36,386,511 (GRCm39) missense possibly damaging 0.85
R9164:Sorcs2 UTSW 5 36,235,312 (GRCm39) missense possibly damaging 0.94
R9221:Sorcs2 UTSW 5 36,181,910 (GRCm39) critical splice donor site probably null
R9290:Sorcs2 UTSW 5 36,183,225 (GRCm39) missense probably damaging 0.96
R9358:Sorcs2 UTSW 5 36,200,814 (GRCm39) missense probably damaging 1.00
R9492:Sorcs2 UTSW 5 36,186,484 (GRCm39) missense probably benign 0.08
R9493:Sorcs2 UTSW 5 36,199,529 (GRCm39) missense possibly damaging 0.61
R9640:Sorcs2 UTSW 5 36,222,765 (GRCm39) nonsense probably null
RF063:Sorcs2 UTSW 5 36,311,155 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGGGACTCTAAGCCCTGCTAAG -3'
(R):5'- GAATGGTGCCTGTTTCCACTG -3'

Sequencing Primer
(F):5'- CTCTAAGCCCTGCTAAGTGGTATTTG -3'
(R):5'- GTTTCCACTGGGCTGGCATC -3'
Posted On 2021-01-18