Incidental Mutation 'R0831:Sorcs3'
ID 77594
Institutional Source Beutler Lab
Gene Symbol Sorcs3
Ensembl Gene ENSMUSG00000063434
Gene Name sortilin-related VPS10 domain containing receptor 3
Synonyms 6330404A12Rik
MMRRC Submission 039010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R0831 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 48194464-48793944 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48682433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 489 (L489F)
Ref Sequence ENSEMBL: ENSMUSP00000077919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078880]
AlphaFold Q8VI51
Predicted Effect probably damaging
Transcript: ENSMUST00000078880
AA Change: L489F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077919
Gene: ENSMUSG00000063434
AA Change: L489F

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 46 63 N/A INTRINSIC
low complexity region 69 91 N/A INTRINSIC
VPS10 216 818 N/A SMART
Pfam:PKD 823 901 8e-13 PFAM
transmembrane domain 1122 1141 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.0%
Validation Efficiency 95% (82/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit absent NMDA and glutamate receptor-dependent long term depression, impaired spatial learning and memory and impaired fear memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik C T 7: 12,284,523 (GRCm39) probably benign Het
3425401B19Rik T C 14: 32,384,228 (GRCm39) N579S probably benign Het
Adck1 G T 12: 88,335,118 (GRCm39) M1I probably null Het
Adgra3 A T 5: 50,128,144 (GRCm39) I779N probably damaging Het
Adgrf2 A G 17: 43,021,334 (GRCm39) S497P probably damaging Het
Afg3l2 A C 18: 67,554,297 (GRCm39) F468L probably damaging Het
Alms1 T A 6: 85,605,502 (GRCm39) I2384N probably benign Het
Ankrd13b A T 11: 77,363,585 (GRCm39) S244R probably damaging Het
Aox1 T A 1: 58,378,842 (GRCm39) H1030Q probably benign Het
Ap1b1 A G 11: 4,973,092 (GRCm39) probably benign Het
Atxn2l A G 7: 126,098,332 (GRCm39) S187P probably damaging Het
B4galt4 G T 16: 38,588,341 (GRCm39) E57D probably benign Het
Cad T C 5: 31,224,944 (GRCm39) V949A probably damaging Het
Cadps2 C T 6: 23,321,739 (GRCm39) S1051N possibly damaging Het
Ccdc66 C T 14: 27,219,313 (GRCm39) V148I probably benign Het
Ccser1 C T 6: 61,400,045 (GRCm39) P55S probably damaging Het
Cds2 T C 2: 132,127,887 (GRCm39) probably null Het
Cep95 A G 11: 106,705,530 (GRCm39) D548G probably benign Het
Chil3 A G 3: 106,057,063 (GRCm39) Y294H probably benign Het
Chmp5 A G 4: 40,949,500 (GRCm39) D39G probably damaging Het
Chrd T A 16: 20,560,059 (GRCm39) F887I probably damaging Het
Col24a1 G T 3: 145,034,520 (GRCm39) G580V probably damaging Het
Col6a2 A T 10: 76,439,939 (GRCm39) N655K probably damaging Het
Ctsf A T 19: 4,909,868 (GRCm39) Y416F possibly damaging Het
Dennd5a A C 7: 109,533,961 (GRCm39) V77G probably damaging Het
Dna2 A T 10: 62,795,108 (GRCm39) K460* probably null Het
Dnah17 A T 11: 117,951,097 (GRCm39) M2842K probably damaging Het
Dnajc13 C A 9: 104,049,811 (GRCm39) G1765V probably damaging Het
Donson A C 16: 91,480,651 (GRCm39) C243W probably damaging Het
Dpp8 A T 9: 64,985,961 (GRCm39) N817I possibly damaging Het
Eef1d G A 15: 75,768,655 (GRCm39) probably benign Het
Esf1 T A 2: 140,010,279 (GRCm39) D19V probably damaging Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gm9867 C A 4: 140,049,799 (GRCm39) A128S unknown Het
Igsf23 G T 7: 19,675,662 (GRCm39) probably benign Het
Inhca T C 9: 103,146,978 (GRCm39) H292R possibly damaging Het
Kdm7a C A 6: 39,143,699 (GRCm39) probably benign Het
Kif14 G A 1: 136,453,609 (GRCm39) probably benign Het
Mroh7 T C 4: 106,537,990 (GRCm39) N1229D possibly damaging Het
Mrps11 C A 7: 78,441,611 (GRCm39) probably benign Het
Mtmr2 T A 9: 13,707,409 (GRCm39) D248E probably damaging Het
Myrfl C A 10: 116,619,114 (GRCm39) S748I probably benign Het
Nop14 T C 5: 34,807,864 (GRCm39) E366G possibly damaging Het
Or13c3 T G 4: 52,855,764 (GRCm39) I250L possibly damaging Het
Or2w25 C T 11: 59,504,480 (GRCm39) T230I possibly damaging Het
Or52z13 A G 7: 103,247,338 (GRCm39) I272V probably benign Het
Or7e177 T A 9: 20,211,861 (GRCm39) C123S probably benign Het
Or8g2b C T 9: 39,751,579 (GRCm39) P283L probably damaging Het
Phykpl G T 11: 51,476,366 (GRCm39) E29* probably null Het
Plppr4 A G 3: 117,125,295 (GRCm39) probably null Het
Prmt2 A C 10: 76,043,641 (GRCm39) probably benign Het
Prodh2 T A 7: 30,193,649 (GRCm39) Y114* probably null Het
Prr23a2 C A 9: 98,738,917 (GRCm39) H92N probably damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rdx C A 9: 51,977,117 (GRCm39) A122E probably damaging Het
Rspo3 T G 10: 29,330,253 (GRCm39) D236A unknown Het
Sdk2 A T 11: 113,723,084 (GRCm39) D1302E probably damaging Het
Sipa1 A T 19: 5,710,382 (GRCm39) D209E probably damaging Het
Sirpa T G 2: 129,469,856 (GRCm39) probably benign Het
Ska1 A C 18: 74,330,570 (GRCm39) probably benign Het
Slc4a9 T C 18: 36,668,331 (GRCm39) probably benign Het
Slco1b2 T C 6: 141,631,172 (GRCm39) V602A probably benign Het
Slco2a1 T C 9: 102,959,533 (GRCm39) V543A probably damaging Het
Sorl1 T C 9: 41,982,365 (GRCm39) probably benign Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Spindoc G T 19: 7,352,100 (GRCm39) N82K probably benign Het
Stk17b C A 1: 53,796,651 (GRCm39) C372F probably damaging Het
Tbck A G 3: 132,428,052 (GRCm39) probably benign Het
Thoc1 C T 18: 9,963,267 (GRCm39) T127I probably benign Het
Togaram2 G T 17: 72,023,439 (GRCm39) R765L probably damaging Het
Tprg1 A G 16: 25,136,219 (GRCm39) Y70C probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 T C 17: 31,215,325 (GRCm39) Y1050H probably damaging Het
Vmn1r205 T A 13: 22,776,586 (GRCm39) D172V probably benign Het
Vmn1r79 A T 7: 11,910,990 (GRCm39) N291Y probably damaging Het
Vmn2r112 T A 17: 22,833,980 (GRCm39) N549K probably damaging Het
Vrk3 T A 7: 44,414,227 (GRCm39) L241Q probably damaging Het
Zc3h7a A G 16: 10,969,744 (GRCm39) S386P probably damaging Het
Other mutations in Sorcs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Sorcs3 APN 19 48,672,097 (GRCm39) critical splice donor site probably null
IGL00233:Sorcs3 APN 19 48,736,758 (GRCm39) missense probably benign 0.12
IGL00482:Sorcs3 APN 19 48,592,303 (GRCm39) missense probably benign 0.00
IGL00976:Sorcs3 APN 19 48,755,542 (GRCm39) missense probably damaging 1.00
IGL01367:Sorcs3 APN 19 48,784,814 (GRCm39) missense probably damaging 1.00
IGL01390:Sorcs3 APN 19 48,778,570 (GRCm39) missense probably damaging 1.00
IGL01548:Sorcs3 APN 19 48,782,607 (GRCm39) missense possibly damaging 0.87
IGL02162:Sorcs3 APN 19 48,523,970 (GRCm39) missense probably damaging 0.98
IGL02165:Sorcs3 APN 19 48,642,511 (GRCm39) missense probably benign 0.03
IGL02404:Sorcs3 APN 19 48,692,809 (GRCm39) splice site probably benign
IGL02830:Sorcs3 APN 19 48,711,441 (GRCm39) splice site probably null
IGL02943:Sorcs3 APN 19 48,748,377 (GRCm39) missense probably benign 0.00
R0371:Sorcs3 UTSW 19 48,592,333 (GRCm39) missense probably benign 0.00
R0456:Sorcs3 UTSW 19 48,642,483 (GRCm39) missense possibly damaging 0.94
R0466:Sorcs3 UTSW 19 48,736,758 (GRCm39) missense probably benign 0.12
R0470:Sorcs3 UTSW 19 48,785,956 (GRCm39) critical splice donor site probably null
R0536:Sorcs3 UTSW 19 48,791,137 (GRCm39) nonsense probably null
R0646:Sorcs3 UTSW 19 48,194,734 (GRCm39) missense probably benign 0.10
R0709:Sorcs3 UTSW 19 48,475,845 (GRCm39) missense probably benign
R0792:Sorcs3 UTSW 19 48,694,448 (GRCm39) missense possibly damaging 0.84
R0836:Sorcs3 UTSW 19 48,475,833 (GRCm39) missense probably benign
R1253:Sorcs3 UTSW 19 48,195,175 (GRCm39) missense possibly damaging 0.67
R1390:Sorcs3 UTSW 19 48,682,440 (GRCm39) critical splice donor site probably null
R1522:Sorcs3 UTSW 19 48,694,448 (GRCm39) missense possibly damaging 0.84
R1570:Sorcs3 UTSW 19 48,752,620 (GRCm39) missense probably damaging 1.00
R1637:Sorcs3 UTSW 19 48,736,798 (GRCm39) critical splice donor site probably null
R1766:Sorcs3 UTSW 19 48,592,314 (GRCm39) missense possibly damaging 0.87
R1894:Sorcs3 UTSW 19 48,782,713 (GRCm39) missense probably benign 0.23
R2426:Sorcs3 UTSW 19 48,711,364 (GRCm39) missense probably damaging 1.00
R3789:Sorcs3 UTSW 19 48,387,150 (GRCm39) missense possibly damaging 0.46
R3818:Sorcs3 UTSW 19 48,592,343 (GRCm39) missense probably benign 0.00
R3824:Sorcs3 UTSW 19 48,711,395 (GRCm39) missense probably damaging 1.00
R3934:Sorcs3 UTSW 19 48,701,943 (GRCm39) missense probably damaging 1.00
R3936:Sorcs3 UTSW 19 48,701,943 (GRCm39) missense probably damaging 1.00
R4190:Sorcs3 UTSW 19 48,737,812 (GRCm39) missense possibly damaging 0.69
R4604:Sorcs3 UTSW 19 48,682,353 (GRCm39) missense probably benign 0.35
R4644:Sorcs3 UTSW 19 48,672,036 (GRCm39) missense probably damaging 1.00
R4774:Sorcs3 UTSW 19 48,782,602 (GRCm39) missense probably benign 0.23
R4801:Sorcs3 UTSW 19 48,387,183 (GRCm39) missense possibly damaging 0.46
R4802:Sorcs3 UTSW 19 48,387,183 (GRCm39) missense possibly damaging 0.46
R4945:Sorcs3 UTSW 19 48,752,587 (GRCm39) missense possibly damaging 0.50
R5049:Sorcs3 UTSW 19 48,748,390 (GRCm39) missense possibly damaging 0.93
R5175:Sorcs3 UTSW 19 48,748,284 (GRCm39) critical splice acceptor site probably null
R5342:Sorcs3 UTSW 19 48,784,911 (GRCm39) splice site probably null
R5848:Sorcs3 UTSW 19 48,776,950 (GRCm39) missense probably damaging 1.00
R5959:Sorcs3 UTSW 19 48,737,835 (GRCm39) missense probably damaging 1.00
R5977:Sorcs3 UTSW 19 48,784,889 (GRCm39) missense probably damaging 1.00
R6155:Sorcs3 UTSW 19 48,387,136 (GRCm39) missense possibly damaging 0.94
R6222:Sorcs3 UTSW 19 48,748,296 (GRCm39) missense possibly damaging 0.57
R6268:Sorcs3 UTSW 19 48,778,605 (GRCm39) missense probably damaging 1.00
R6416:Sorcs3 UTSW 19 48,791,198 (GRCm39) missense probably damaging 1.00
R6425:Sorcs3 UTSW 19 48,752,746 (GRCm39) critical splice donor site probably null
R6623:Sorcs3 UTSW 19 48,776,944 (GRCm39) missense probably benign 0.00
R6767:Sorcs3 UTSW 19 48,702,010 (GRCm39) missense probably damaging 0.99
R6888:Sorcs3 UTSW 19 48,682,263 (GRCm39) missense possibly damaging 0.83
R6955:Sorcs3 UTSW 19 48,737,782 (GRCm39) missense possibly damaging 0.82
R7106:Sorcs3 UTSW 19 48,694,402 (GRCm39) missense probably damaging 1.00
R7379:Sorcs3 UTSW 19 48,760,705 (GRCm39) missense possibly damaging 0.69
R7953:Sorcs3 UTSW 19 48,752,734 (GRCm39) missense possibly damaging 0.84
R8043:Sorcs3 UTSW 19 48,752,734 (GRCm39) missense possibly damaging 0.84
R8242:Sorcs3 UTSW 19 48,194,913 (GRCm39) missense possibly damaging 0.53
R8343:Sorcs3 UTSW 19 48,692,808 (GRCm39) splice site probably null
R8433:Sorcs3 UTSW 19 48,194,913 (GRCm39) missense possibly damaging 0.53
R8435:Sorcs3 UTSW 19 48,194,913 (GRCm39) missense possibly damaging 0.53
R8436:Sorcs3 UTSW 19 48,194,913 (GRCm39) missense possibly damaging 0.53
R8940:Sorcs3 UTSW 19 48,784,908 (GRCm39) critical splice donor site probably null
R8956:Sorcs3 UTSW 19 48,737,810 (GRCm39) nonsense probably null
R9051:Sorcs3 UTSW 19 48,194,809 (GRCm39) missense probably benign
R9119:Sorcs3 UTSW 19 48,642,433 (GRCm39) missense possibly damaging 0.92
R9166:Sorcs3 UTSW 19 48,784,811 (GRCm39) missense probably benign 0.01
R9328:Sorcs3 UTSW 19 48,785,950 (GRCm39) missense probably damaging 1.00
R9489:Sorcs3 UTSW 19 48,711,364 (GRCm39) missense probably damaging 1.00
R9605:Sorcs3 UTSW 19 48,711,364 (GRCm39) missense probably damaging 1.00
R9757:Sorcs3 UTSW 19 48,711,363 (GRCm39) missense probably damaging 1.00
X0018:Sorcs3 UTSW 19 48,760,728 (GRCm39) missense probably damaging 1.00
Z1176:Sorcs3 UTSW 19 48,634,243 (GRCm39) missense probably damaging 1.00
Z1177:Sorcs3 UTSW 19 48,692,739 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCCAACACCGAACTGCTTAACG -3'
(R):5'- GGTTACATCCCTTGCCTCGAAATGC -3'

Sequencing Primer
(F):5'- GTCACAGGAATTACCTGAGGTCC -3'
(R):5'- ATTGCCACGTGAAACAGC -3'
Posted On 2013-10-16