Incidental Mutation 'IGL03412:Sorcs2'
ID421855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sorcs2
Ensembl Gene ENSMUSG00000029093
Gene Namesortilin-related VPS10 domain containing receptor 2
SynonymsVPS10 domain receptor protein
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03412
Quality Score
Status
Chromosome5
Chromosomal Location36017180-36398139 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36046504 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 549 (D549G)
Ref Sequence ENSEMBL: ENSMUSP00000041828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037370]
Predicted Effect probably damaging
Transcript: ENSMUST00000037370
AA Change: D549G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
AA Change: D549G

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,491,770 R736* probably null Het
Agpat2 T C 2: 26,593,661 T255A probably benign Het
Akap3 G A 6: 126,864,725 M102I probably benign Het
Cd300lb C A 11: 114,928,380 R5M probably damaging Het
Chrna5 A T 9: 55,004,435 D69V probably damaging Het
Col9a1 G A 1: 24,210,427 probably null Het
Dnajb12 A T 10: 59,890,073 H60L probably benign Het
Dnal1 T A 12: 84,135,667 M1K probably null Het
Exoc7 C T 11: 116,289,275 V655M possibly damaging Het
Fastkd3 A G 13: 68,583,721 R54G probably benign Het
Fbln2 G A 6: 91,271,781 D1143N probably damaging Het
Flii C T 11: 60,722,640 V174M probably damaging Het
Gtf2h4 T C 17: 35,668,483 I388M probably damaging Het
Il20rb A G 9: 100,474,996 V27A probably benign Het
Kidins220 T C 12: 24,999,345 S320P probably damaging Het
Kif1b T C 4: 149,274,939 S114G probably benign Het
Lama3 T C 18: 12,419,182 V397A probably damaging Het
Man2a2 A T 7: 80,366,998 V356D probably damaging Het
Mcpt9 T G 14: 56,028,027 T72P probably damaging Het
Mmd T C 11: 90,257,603 probably null Het
Mroh2b G A 15: 4,944,372 R1124Q probably benign Het
Mvp T C 7: 126,993,563 D392G probably damaging Het
Mycbpap T A 11: 94,508,101 probably null Het
Myh2 A G 11: 67,189,569 H1203R probably benign Het
Nbeal1 T A 1: 60,242,567 C816* probably null Het
Olfr1242 T A 2: 89,494,211 I34F probably benign Het
Olfr1440 A T 19: 12,394,379 T39S probably damaging Het
Pcdh12 C T 18: 38,283,515 V186M probably benign Het
Pik3c2a C T 7: 116,417,839 E228K probably benign Het
Plcz1 A C 6: 140,016,097 Y243D probably damaging Het
Rspo3 T A 10: 29,535,274 I19F possibly damaging Het
Slc2a12 T C 10: 22,664,969 L241P probably damaging Het
Slc4a10 G A 2: 62,250,543 probably benign Het
Snai2 A T 16: 14,707,256 T209S possibly damaging Het
Srsf12 G A 4: 33,230,929 R141Q probably damaging Het
Stab1 T G 14: 31,154,407 E908D probably benign Het
Stat6 A T 10: 127,658,205 M634L probably benign Het
Tex21 A G 12: 76,245,006 probably null Het
Tsc2 C A 17: 24,597,068 R1715L probably damaging Het
Ttll4 A G 1: 74,687,321 I693V probably benign Het
Vmn1r5 A T 6: 56,985,933 M198L possibly damaging Het
Vmn1r50 T C 6: 90,108,025 Y251H probably damaging Het
Vmn2r59 A G 7: 42,012,438 I651T probably benign Het
Wdr3 G T 3: 100,151,977 T342K probably benign Het
Zbtb44 A G 9: 31,053,467 T58A probably benign Het
Zeb2 A G 2: 45,002,708 probably benign Het
Zmym2 C T 14: 56,959,719 Q1315* probably null Het
Zmym6 T C 4: 127,092,938 I137T probably damaging Het
Other mutations in Sorcs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Sorcs2 APN 5 36037401 splice site probably null
IGL01064:Sorcs2 APN 5 36065352 missense probably damaging 1.00
IGL01120:Sorcs2 APN 5 36021252 missense probably damaging 0.99
IGL01730:Sorcs2 APN 5 36047809 missense probably damaging 1.00
IGL02542:Sorcs2 APN 5 36025942 missense probably damaging 0.98
IGL02730:Sorcs2 APN 5 36062552 missense probably benign 0.11
IGL02965:Sorcs2 APN 5 36077957 missense probably benign 0.13
IGL02997:Sorcs2 APN 5 36068148 missense probably damaging 1.00
IGL03000:Sorcs2 APN 5 36065331 unclassified probably benign
IGL03141:Sorcs2 APN 5 36065355 missense probably benign 0.01
IGL03184:Sorcs2 APN 5 36031212 missense probably benign 0.01
R0180:Sorcs2 UTSW 5 36153845 missense probably damaging 1.00
R0244:Sorcs2 UTSW 5 36397553 splice site probably benign
R0345:Sorcs2 UTSW 5 36027874 missense probably benign 0.01
R0519:Sorcs2 UTSW 5 36031190 missense probably benign 0.08
R0624:Sorcs2 UTSW 5 36065433 missense probably damaging 0.97
R0625:Sorcs2 UTSW 5 36024572 missense possibly damaging 0.65
R1169:Sorcs2 UTSW 5 36027925 missense possibly damaging 0.70
R1721:Sorcs2 UTSW 5 36026748 missense probably damaging 0.98
R1809:Sorcs2 UTSW 5 36229220 splice site probably benign
R1935:Sorcs2 UTSW 5 36071387 missense possibly damaging 0.88
R1936:Sorcs2 UTSW 5 36071387 missense possibly damaging 0.88
R2279:Sorcs2 UTSW 5 36042086 splice site probably null
R3148:Sorcs2 UTSW 5 36035788 missense probably benign 0.09
R3803:Sorcs2 UTSW 5 36397806 missense probably benign 0.36
R3863:Sorcs2 UTSW 5 36397663 nonsense probably null
R4092:Sorcs2 UTSW 5 36025822 missense possibly damaging 0.92
R4620:Sorcs2 UTSW 5 36037494 missense probably benign 0.00
R5079:Sorcs2 UTSW 5 36043452 missense probably damaging 1.00
R5301:Sorcs2 UTSW 5 36039390 missense probably damaging 1.00
R5470:Sorcs2 UTSW 5 36031183 missense probably benign 0.00
R5568:Sorcs2 UTSW 5 36046530 nonsense probably null
R5727:Sorcs2 UTSW 5 36031286 missense possibly damaging 0.52
R5874:Sorcs2 UTSW 5 36229211 missense probably damaging 1.00
R5890:Sorcs2 UTSW 5 36229191 missense probably damaging 1.00
R5946:Sorcs2 UTSW 5 36029083 missense probably damaging 1.00
R6005:Sorcs2 UTSW 5 36019384 missense probably damaging 1.00
R6048:Sorcs2 UTSW 5 36027988 splice site probably null
R6290:Sorcs2 UTSW 5 36062587 missense probably damaging 1.00
R6292:Sorcs2 UTSW 5 36062587 missense probably damaging 1.00
R6617:Sorcs2 UTSW 5 36077966 missense probably damaging 1.00
R6681:Sorcs2 UTSW 5 36397810 missense probably benign 0.00
R7024:Sorcs2 UTSW 5 36021261 missense probably damaging 0.99
R7056:Sorcs2 UTSW 5 36068130 missense probably damaging 1.00
R7569:Sorcs2 UTSW 5 36025876 missense probably benign 0.01
R7641:Sorcs2 UTSW 5 36397952 missense probably damaging 0.99
R7651:Sorcs2 UTSW 5 36027978 missense probably damaging 1.00
R7674:Sorcs2 UTSW 5 36397952 missense probably damaging 0.99
R7722:Sorcs2 UTSW 5 36043527 missense probably damaging 1.00
R7748:Sorcs2 UTSW 5 36229175 missense possibly damaging 0.56
R7764:Sorcs2 UTSW 5 36024072 missense possibly damaging 0.48
R7813:Sorcs2 UTSW 5 36024614 missense probably damaging 1.00
R8142:Sorcs2 UTSW 5 36062614 missense possibly damaging 0.67
R8246:Sorcs2 UTSW 5 36062588 missense probably damaging 1.00
R8254:Sorcs2 UTSW 5 36038206 missense probably benign 0.00
RF063:Sorcs2 UTSW 5 36153811 frame shift probably null
Posted On2016-08-02