Incidental Mutation 'R1169:Sorcs2'
ID 101449
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 039242-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1169 (G1)
Quality Score 192
Status Not validated
Chromosome 5
Chromosomal Location 36174524-36555483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36185269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 936 (V936L)
Ref Sequence ENSEMBL: ENSMUSP00000041828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037370]
AlphaFold Q9EPR5
Predicted Effect possibly damaging
Transcript: ENSMUST00000037370
AA Change: V936L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
AA Change: V936L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,419,781 (GRCm39) E275G probably damaging Het
Adam10 T A 9: 70,653,574 (GRCm39) I123N probably damaging Het
Adam8 A T 7: 139,563,842 (GRCm39) L715Q probably benign Het
Adcyap1r1 T A 6: 55,471,101 (GRCm39) F418L probably damaging Het
Ankrd50 A T 3: 38,508,401 (GRCm39) I1322K probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atxn7 T C 14: 14,095,468 (GRCm38) S389P possibly damaging Het
C4b A T 17: 34,961,946 (GRCm39) L100Q probably benign Het
Cacul1 G A 19: 60,568,846 (GRCm39) A104V probably damaging Het
Camsap3 T C 8: 3,653,866 (GRCm39) F512S probably damaging Het
Casp1 T C 9: 5,299,454 (GRCm39) V61A possibly damaging Het
Cfap251 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,392,673 (GRCm39) probably benign Het
Chd1 T A 17: 15,955,994 (GRCm39) F531Y probably damaging Het
Clec2h C T 6: 128,651,758 (GRCm39) Q156* probably null Het
Clip2 T A 5: 134,521,104 (GRCm39) E978V probably benign Het
Cnpy2 T G 10: 128,159,465 (GRCm39) L34R probably damaging Het
Cog6 A T 3: 52,921,265 (GRCm39) C114S probably benign Het
Col6a3 A T 1: 90,749,736 (GRCm39) V366E possibly damaging Het
Col6a5 A G 9: 105,774,173 (GRCm39) probably null Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Dmbt1 G A 7: 130,676,254 (GRCm39) probably null Het
Dok1 A G 6: 83,009,029 (GRCm39) F218L possibly damaging Het
Dph7 T A 2: 24,856,583 (GRCm39) N178K probably benign Het
Enam A T 5: 88,651,117 (GRCm39) E800D probably damaging Het
Fads3 A T 19: 10,031,463 (GRCm39) Q205L possibly damaging Het
Fbxo44 T C 4: 148,240,433 (GRCm39) H265R probably benign Het
Gli1 T A 10: 127,174,320 (GRCm39) S24C probably damaging Het
Gm4894 T A 9: 49,185,526 (GRCm39) C43* probably null Het
Gpbp1l1 C T 4: 116,431,563 (GRCm39) H74Y possibly damaging Het
H2-Eb2 T A 17: 34,552,331 (GRCm39) F59I possibly damaging Het
Hspa14 T C 2: 3,499,161 (GRCm39) N211S possibly damaging Het
Ifnlr1 T G 4: 135,432,419 (GRCm39) F285C probably benign Het
Igf1r G T 7: 67,814,875 (GRCm39) V259L probably benign Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Ighg2c A T 12: 113,249,572 (GRCm39) probably benign Het
Ighv8-14 A T 12: 115,772,075 (GRCm39) probably null Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itsn2 A G 12: 4,689,694 (GRCm39) K589R probably damaging Het
Khdc1a A C 1: 21,420,495 (GRCm39) E38D possibly damaging Het
Krt42 T G 11: 100,154,171 (GRCm39) probably null Het
Lpo T C 11: 87,708,143 (GRCm39) N183S possibly damaging Het
Lrrc3 T A 10: 77,736,764 (GRCm39) Y224F probably damaging Het
Ly6g6f T A 17: 35,302,240 (GRCm39) D99V probably damaging Het
Lyplal1 T C 1: 185,846,531 (GRCm39) I42V probably benign Het
Mis18bp1 G A 12: 65,190,057 (GRCm39) Q793* probably null Het
Myh10 T G 11: 68,653,667 (GRCm39) M346R probably damaging Het
Nav1 G T 1: 135,382,943 (GRCm39) H1256Q probably damaging Het
Nbea A G 3: 55,875,744 (GRCm39) V1642A probably benign Het
Or4d6 C T 19: 12,086,853 (GRCm39) R19H probably benign Het
Or8b12i T C 9: 20,082,354 (GRCm39) N171S probably benign Het
Or8i2 A G 2: 86,852,061 (GRCm39) F276L probably damaging Het
Or8k28 A G 2: 86,285,931 (GRCm39) I228T possibly damaging Het
Orm3 G A 4: 63,276,085 (GRCm39) V166M probably damaging Het
Oxct1 T A 15: 4,120,708 (GRCm39) I264N probably damaging Het
Paox G A 7: 139,706,244 (GRCm39) V55I probably benign Het
Pde4d C A 13: 110,087,462 (GRCm39) probably null Het
Pnliprp1 A G 19: 58,723,383 (GRCm39) N258S probably damaging Het
Potegl A G 2: 23,146,994 (GRCm39) K275E possibly damaging Het
Prl7b1 C A 13: 27,790,887 (GRCm39) R66L possibly damaging Het
Ptpre G T 7: 135,269,341 (GRCm39) C261F probably benign Het
Rho C G 6: 115,909,199 (GRCm39) N78K probably damaging Het
Rnf17 A G 14: 56,751,622 (GRCm39) N1487D possibly damaging Het
Ryr3 G A 2: 112,563,359 (GRCm39) T2922I probably benign Het
Saxo2 A C 7: 82,284,379 (GRCm39) F160V possibly damaging Het
Sbf2 A T 7: 109,909,391 (GRCm39) Y1786N probably benign Het
Sdad1 A T 5: 92,446,092 (GRCm39) V280E probably benign Het
Sgsm1 T C 5: 113,427,351 (GRCm39) D90G probably damaging Het
Siglec1 A T 2: 130,916,747 (GRCm39) D1169E probably damaging Het
Sim1 T A 10: 50,857,618 (GRCm39) V456E probably benign Het
Skint8 T A 4: 111,785,710 (GRCm39) I52N possibly damaging Het
Slc27a1 C A 8: 72,033,297 (GRCm39) R280S probably benign Het
Slc9a3 G A 13: 74,298,862 (GRCm39) V94I probably damaging Het
Syce1 A G 7: 140,358,120 (GRCm39) F255S probably benign Het
Tmc7 G A 7: 118,150,483 (GRCm39) S350L probably benign Het
Tmem200a T A 10: 25,870,246 (GRCm39) I8F probably damaging Het
Trip6 T C 5: 137,310,182 (GRCm39) H322R probably benign Het
Vmn2r72 A T 7: 85,400,517 (GRCm39) N177K 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
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
Posted On 2014-01-15