Incidental Mutation 'IGL03184:Sorcs2'
ID412401
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 #IGL03184
Quality Score
Status
Chromosome5
Chromosomal Location36017180-36398139 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36031212 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 851 (S851P)
Ref Sequence ENSEMBL: ENSMUSP00000041828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037370]
Predicted Effect probably benign
Transcript: ENSMUST00000037370
AA Change: S851P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
AA Change: S851P

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,323,451 Y992H possibly damaging Het
Adcy7 T A 8: 88,308,643 D58E probably benign Het
Aff2 G A X: 69,767,234 V404M possibly damaging Het
Ankhd1 T A 18: 36,647,777 L1961M probably damaging Het
BC024978 A G 7: 27,197,007 probably benign Het
Brms1l T C 12: 55,868,277 *324Q probably null Het
Bub1b T C 2: 118,609,777 probably benign Het
Cacna1b A G 2: 24,658,489 probably null Het
Clrn1 T A 3: 58,846,224 T239S probably benign Het
Clta T C 4: 44,025,514 Y145H probably benign Het
Coro6 T C 11: 77,463,953 V14A probably damaging Het
Cyp4a30b A G 4: 115,459,019 D314G probably damaging Het
Fn1 T C 1: 71,609,497 N1418D probably benign Het
Fshr A C 17: 89,046,640 L97V possibly damaging Het
Gcm2 T C 13: 41,105,412 Q152R probably damaging Het
Gcnt2 A G 13: 40,888,184 N273S probably benign Het
Gm11437 A T 11: 84,156,264 probably benign Het
Gm4559 A G 7: 142,274,309 S19P unknown Het
Igsf8 T G 1: 172,318,632 I462R probably damaging Het
Kirrel3 T C 9: 35,007,756 F243S probably damaging Het
Krt80 C T 15: 101,352,254 V37M probably damaging Het
Lama4 T C 10: 39,078,843 Y1131H probably damaging Het
Mrpl21 T C 19: 3,292,529 probably benign Het
Mtcl1 T C 17: 66,354,214 N923S probably benign Het
Nectin2 G A 7: 19,738,306 P53S possibly damaging Het
Nup98 G A 7: 102,183,545 T335I probably damaging Het
Olfr1247 T C 2: 89,609,568 D178G probably damaging Het
Olfr1391 C A 11: 49,327,741 T110K probably damaging Het
Olfr1507 A G 14: 52,490,923 S14P probably benign Het
Olfr643 T A 7: 104,058,847 I252F probably damaging Het
Olfr822 T C 10: 130,074,758 M116T possibly damaging Het
Pcdhb14 A G 18: 37,449,032 E397G probably benign Het
Pcgf5 T G 19: 36,434,676 probably benign Het
Pclo C T 5: 14,714,443 P1025L probably damaging Het
Pdcd1lg2 C A 19: 29,454,511 F226L probably benign Het
Pik3ca T A 3: 32,439,886 S332R probably benign Het
Plek A T 11: 16,981,887 D321E probably benign Het
Pm20d2 A G 4: 33,179,241 F333L probably damaging Het
Polk T C 13: 96,483,983 T570A probably benign Het
Rpgrip1l G A 8: 91,300,809 L201F probably damaging Het
Serpinb2 T A 1: 107,524,877 L395H probably damaging Het
Slc9c1 T G 16: 45,547,640 S197R probably damaging Het
Smg1 T A 7: 118,180,380 E1264V possibly damaging Het
Sned1 A G 1: 93,274,668 D678G probably benign Het
Srcap A G 7: 127,530,502 probably benign Het
Tbck T C 3: 132,736,103 Y557H probably damaging Het
Tfap2d T C 1: 19,118,886 S219P probably damaging Het
Trim9 T C 12: 70,251,221 D570G probably damaging Het
Usp25 A G 16: 77,081,653 Y655C probably damaging Het
Utrn T A 10: 12,710,166 T956S probably benign Het
Vmn1r68 T A 7: 10,527,872 I100F probably benign Het
Vps13a A T 19: 16,654,370 S2634T probably benign Het
Zfp472 T A 17: 32,977,416 L155* probably null Het
Zfp808 A G 13: 62,169,567 I43M possibly 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
IGL03412:Sorcs2 APN 5 36046504 missense probably damaging 1.00
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
RF063:Sorcs2 UTSW 5 36153811 frame shift probably null
Posted On2016-08-02