Incidental Mutation 'R1570:Sorcs3'
ID 177224
Institutional Source Beutler Lab
Gene Symbol Sorcs3
Ensembl Gene ENSMUSG00000063434
Gene Name sortilin-related VPS10 domain containing receptor 3
Synonyms 6330404A12Rik
MMRRC Submission 039609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1570 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 48194464-48793944 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48752620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 805 (K805R)
Ref Sequence ENSEMBL: ENSMUSP00000077919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078880]
AlphaFold Q8VI51
Predicted Effect probably damaging
Transcript: ENSMUST00000078880
AA Change: K805R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077919
Gene: ENSMUSG00000063434
AA Change: K805R

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 0.1501 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.0%
Validation Efficiency 93% (77/83)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec1 A G 6: 122,568,044 (GRCm39) probably null Het
Arhgap21 G T 2: 20,885,651 (GRCm39) Q348K probably benign Het
Arl5c A G 11: 97,883,213 (GRCm39) V129A probably benign Het
Armh1 A G 4: 117,087,189 (GRCm39) S159P probably damaging Het
Asb8 A G 15: 98,034,309 (GRCm39) L82P probably damaging Het
Bahcc1 G A 11: 120,163,009 (GRCm39) A436T possibly damaging Het
Btc T C 5: 91,550,576 (GRCm39) D2G unknown Het
C1s2 G A 6: 124,602,723 (GRCm39) T490M probably benign Het
Caap1 C T 4: 94,444,814 (GRCm39) G43D probably benign Het
Ccr5 T C 9: 123,925,000 (GRCm39) V201A probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdhr5 C A 7: 140,851,682 (GRCm39) G541C probably damaging Het
Cep170 A G 1: 176,583,367 (GRCm39) I1004T possibly damaging Het
Chd9 A T 8: 91,763,170 (GRCm39) M2332L probably benign Het
Clk1 T A 1: 58,453,584 (GRCm39) H334L probably benign Het
Cyp4b1 G A 4: 115,493,160 (GRCm39) S228F probably benign Het
Dnah9 T C 11: 66,003,156 (GRCm39) N883D probably benign Het
Dync2h1 A G 9: 7,176,926 (GRCm39) L11P probably benign Het
Ephx4 A G 5: 107,567,717 (GRCm39) E225G probably damaging Het
Erich6 C T 3: 58,538,080 (GRCm39) probably null Het
Espl1 A G 15: 102,206,802 (GRCm39) T89A probably damaging Het
Evi2 T A 11: 79,407,076 (GRCm39) K166N possibly damaging Het
Glrx5 A G 12: 104,999,127 (GRCm39) T57A possibly damaging Het
Gnptab T A 10: 88,255,316 (GRCm39) V222E probably damaging Het
Gpr155 T C 2: 73,200,382 (GRCm39) Y375C possibly damaging Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Ildr2 T C 1: 166,131,154 (GRCm39) F337L probably damaging Het
Ino80 C T 2: 119,277,509 (GRCm39) R322Q possibly damaging Het
Lcp2 A G 11: 34,039,601 (GRCm39) D467G probably benign Het
Lmbr1 A G 5: 29,459,556 (GRCm39) I229T probably damaging Het
Lnpep A T 17: 17,799,418 (GRCm39) M79K probably damaging Het
Lpin1 T C 12: 16,610,999 (GRCm39) Q564R possibly damaging Het
Lpin2 T A 17: 71,552,176 (GRCm39) L794* probably null Het
Lrrc37 A G 11: 103,500,764 (GRCm39) Y597H possibly damaging Het
Lrrc45 T C 11: 120,610,935 (GRCm39) probably null Het
Mtus1 A G 8: 41,529,278 (GRCm39) S751P probably damaging Het
Nbr1 T C 11: 101,455,656 (GRCm39) probably benign Het
Nup107 A G 10: 117,599,749 (GRCm39) F592S possibly damaging Het
Nup133 T A 8: 124,675,915 (GRCm39) M1L possibly damaging Het
Or2a20 T C 6: 43,194,285 (GRCm39) V146A probably benign Het
Or3a10 A C 11: 73,935,633 (GRCm39) F156V possibly damaging Het
Or4n4 T G 14: 50,518,981 (GRCm39) H243P probably damaging Het
Or4p8 A C 2: 88,727,290 (GRCm39) I217S probably damaging Het
Or52b4i C A 7: 102,191,177 (GRCm39) H11Q probably damaging Het
Or8i2 A T 2: 86,852,616 (GRCm39) S91T probably benign Het
Otud7b T C 3: 96,063,208 (GRCm39) C816R probably damaging Het
Pi4k2a T C 19: 42,089,083 (GRCm39) V148A probably benign Het
Pih1d2 T C 9: 50,532,479 (GRCm39) M195T probably benign Het
Pira13 T C 7: 3,826,060 (GRCm39) E311G probably benign Het
Plpp6 T C 19: 28,942,178 (GRCm39) F260L probably damaging Het
R3hcc1l A T 19: 42,570,393 (GRCm39) T663S probably damaging Het
Rnf25 T C 1: 74,634,426 (GRCm39) E199G probably damaging Het
Scin G A 12: 40,134,380 (GRCm39) probably benign Het
Serpinb1c A T 13: 33,080,973 (GRCm39) S37T probably benign Het
Snx19 A G 9: 30,339,639 (GRCm39) D259G probably damaging Het
Sox6 C A 7: 115,376,358 (GRCm39) G125W probably damaging Het
Spink5 A G 18: 44,100,174 (GRCm39) I64V probably benign Het
Spmip10 T A 18: 56,727,606 (GRCm39) D101E probably benign Het
St6galnac1 A G 11: 116,657,474 (GRCm39) probably benign Het
Sult1c2 T C 17: 54,143,991 (GRCm39) I105V probably benign Het
Tacr3 T G 3: 134,535,517 (GRCm39) S162A probably damaging Het
Ttc6 T C 12: 57,721,549 (GRCm39) S1013P probably damaging Het
Zbtb11 C A 16: 55,811,178 (GRCm39) N445K probably benign Het
Zfp423 A C 8: 88,509,186 (GRCm39) V261G probably benign Het
Zfp59 T C 7: 27,553,016 (GRCm39) V156A probably benign Het
Zscan2 C A 7: 80,513,141 (GRCm39) A42E 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
R0831:Sorcs3 UTSW 19 48,682,433 (GRCm39) missense probably damaging 1.00
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
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'- TGAGCACTGTTTATCTTTGTGAGTAGCC -3'
(R):5'- ACTCCGTCCTGTCCTCTTCTTTTCT -3'

Sequencing Primer
(F):5'- agaaacatacacacacatacacatac -3'
(R):5'- TTCCTGAGATCAAGGAACTGTC -3'
Posted On 2014-04-24