Incidental Mutation 'R0519:Sorcs2'
ID 48379
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 038712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0519 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 36174524-36555483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36188534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 858 (A858V)
Ref Sequence ENSEMBL: ENSMUSP00000041828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037370]
AlphaFold Q9EPR5
Predicted Effect probably benign
Transcript: ENSMUST00000037370
AA Change: A858V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
AA Change: A858V

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
Meta Mutation Damage Score 0.0915 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
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
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hsdl1 G A 8: 120,292,450 (GRCm39) A255V probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mcm10 G A 2: 5,013,356 (GRCm39) S92L probably benign Het
Mug1 A G 6: 121,828,383 (GRCm39) K265R possibly damaging Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or1j1 T A 2: 36,702,627 (GRCm39) H159L probably damaging Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Pcdhb21 T C 18: 37,649,085 (GRCm39) V738A possibly damaging Het
Plekha8 A T 6: 54,599,092 (GRCm39) probably benign Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Soat1 T A 1: 156,268,816 (GRCm39) I245F probably damaging Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Ubr7 T A 12: 102,734,465 (GRCm39) D246E probably benign Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T probably damaging 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
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
R8354:Sorcs2 UTSW 5 36,222,753 (GRCm39) missense probably benign 0.01
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'- GTGTCGCCATGACCACCACTATTAC -3'
(R):5'- GCTTCGAGTCACTCCTAAATGACCC -3'

Sequencing Primer
(F):5'- TAGGACCAAGTCTGAGCCCAG -3'
(R):5'- AAATGACCCTGTGGTATTTCCC -3'
Posted On 2013-06-12