Incidental Mutation 'R5049:Sorcs3'
ID 394568
Institutional Source Beutler Lab
Gene Symbol Sorcs3
Ensembl Gene ENSMUSG00000063434
Gene Name sortilin-related VPS10 domain containing receptor 3
Synonyms 6330404A12Rik
MMRRC Submission 042639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5049 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 48194464-48793944 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 48748390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 786 (N786K)
Ref Sequence ENSEMBL: ENSMUSP00000077919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078880]
AlphaFold Q8VI51
Predicted Effect possibly damaging
Transcript: ENSMUST00000078880
AA Change: N786K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077919
Gene: ENSMUSG00000063434
AA Change: N786K

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 0.1085 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.8%
  • 20x: 90.4%
Validation Efficiency 97% (89/92)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,321,698 (GRCm39) S76P probably damaging Het
Acot8 A G 2: 164,641,610 (GRCm39) probably benign Het
Angptl7 A G 4: 148,582,468 (GRCm39) F143L probably benign Het
Atxn7l1 A G 12: 33,408,686 (GRCm39) T283A probably benign Het
Bltp1 T A 3: 37,094,655 (GRCm39) probably benign Het
Bltp1 T C 3: 37,095,539 (GRCm39) M1016T probably damaging Het
Brd3 G T 2: 27,340,589 (GRCm39) probably benign Het
C130026L21Rik T A 5: 111,729,702 (GRCm39) noncoding transcript Het
Cbr4 T G 8: 61,948,238 (GRCm39) probably null Het
Ccl19 A G 4: 42,756,268 (GRCm39) probably null Het
Ccl2 G T 11: 81,927,333 (GRCm39) C34F probably damaging Het
Dnah12 A T 14: 26,456,852 (GRCm39) T873S probably benign Het
Dnah2 T C 11: 69,338,992 (GRCm39) N3118S probably damaging Het
Elapor2 A G 5: 9,478,488 (GRCm39) T451A probably damaging Het
Epb41l1 C A 2: 156,366,859 (GRCm39) P564Q possibly damaging Het
Extl3 A T 14: 65,313,481 (GRCm39) M567K probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Foxf2 T C 13: 31,811,158 (GRCm39) S366P probably benign Het
Gamt T A 10: 80,094,788 (GRCm39) T186S probably benign Het
Gcn1 T A 5: 115,744,730 (GRCm39) M1642K probably damaging Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Golga1 A T 2: 38,937,747 (GRCm39) M115K probably damaging Het
Hapstr1 T A 16: 8,661,073 (GRCm39) D183E probably damaging Het
Herc3 A G 6: 58,871,524 (GRCm39) probably null Het
Hes2 C A 4: 152,244,331 (GRCm39) L39I possibly damaging Het
Hopx C A 5: 77,242,899 (GRCm39) probably benign Het
Idi1 C T 13: 8,938,078 (GRCm39) P175S probably damaging Het
Ifit1bl1 A T 19: 34,571,481 (GRCm39) C325* probably null Het
Ighv7-3 T C 12: 114,116,953 (GRCm39) I70V probably benign Het
Kcnq3 T C 15: 66,157,746 (GRCm39) T110A probably benign Het
Kif5a T C 10: 127,075,708 (GRCm39) D451G possibly damaging Het
Lama3 A G 18: 12,715,668 (GRCm39) E1708G probably benign Het
Lrriq4 T A 3: 30,705,086 (GRCm39) D371E probably damaging Het
Lyst T A 13: 13,810,649 (GRCm39) V773E probably damaging Het
Map4 T A 9: 109,908,882 (GRCm39) L23* probably null Het
Mapkbp1 G T 2: 119,845,982 (GRCm39) probably benign Het
Mrpl30 A T 1: 37,936,791 (GRCm39) D52V possibly damaging Het
Or10ag57 A T 2: 87,219,002 (GRCm39) T318S probably benign Het
Or13j1 A T 4: 43,706,259 (GRCm39) L103Q probably damaging Het
Pard3b T A 1: 62,200,320 (GRCm39) H286Q probably benign Het
Parp4 A G 14: 56,873,188 (GRCm39) K1144R possibly damaging Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pkhd1l1 T C 15: 44,321,012 (GRCm39) S22P probably benign Het
Prss32 A T 17: 24,078,221 (GRCm39) E302D possibly damaging Het
Prss45 A G 9: 110,669,538 (GRCm39) K205E probably damaging Het
Puf60 T A 15: 75,942,323 (GRCm39) I500F probably damaging Het
Ryr3 A T 2: 112,470,516 (GRCm39) I4623N probably damaging Het
Sh3bp5l T A 11: 58,228,950 (GRCm39) probably benign Het
Slc3a1 T G 17: 85,340,273 (GRCm39) Y232D probably damaging Het
Slc8a3 A G 12: 81,260,906 (GRCm39) Y608H probably damaging Het
Socs7 G T 11: 97,269,469 (GRCm39) R429L probably benign Het
Sp4 A T 12: 118,218,207 (GRCm39) M680K probably benign Het
Tas2r131 T C 6: 132,934,540 (GRCm39) T90A probably damaging Het
Tasor2 A T 13: 3,624,000 (GRCm39) H1983Q probably benign Het
Tbx21 T C 11: 97,005,536 (GRCm39) H143R probably benign Het
Tg T A 15: 66,699,231 (GRCm39) C833* probably null Het
Tmem245 A G 4: 56,925,057 (GRCm39) S355P probably benign Het
Tmem86b G A 7: 4,631,465 (GRCm39) P191S possibly damaging Het
Tnc A G 4: 63,936,223 (GRCm39) C238R probably damaging Het
Tnn T A 1: 159,968,308 (GRCm39) E361D probably benign Het
Tpp2 T C 1: 44,040,633 (GRCm39) V298A possibly damaging Het
Trav7-6 A G 14: 53,954,536 (GRCm39) N22S probably damaging Het
Trim75 T C 8: 65,435,091 (GRCm39) probably null Het
Trrap T A 5: 144,763,527 (GRCm39) I2492N probably damaging Het
Ufl1 G T 4: 25,254,773 (GRCm39) A561E probably benign Het
Uqcc1 A G 2: 155,752,341 (GRCm39) V86A probably damaging Het
Vmn1r184 A G 7: 25,966,793 (GRCm39) I180V possibly damaging Het
Vmn1r185 A G 7: 26,310,920 (GRCm39) F195S possibly damaging Het
Vmn2r4 A C 3: 64,306,019 (GRCm39) probably null Het
Vmn2r87 T C 10: 130,308,298 (GRCm39) T647A probably damaging Het
Vps13d A T 4: 144,813,336 (GRCm39) H198Q probably damaging Het
Wdfy4 T C 14: 32,874,627 (GRCm39) T154A possibly damaging Het
Xirp2 A G 2: 67,347,478 (GRCm39) M3240V probably benign Het
Zfp101 T C 17: 33,600,872 (GRCm39) R295G possibly damaging Het
Zfp619 G A 7: 39,184,938 (GRCm39) V323I probably benign Het
Zfy1 A T Y: 726,004 (GRCm39) I587N possibly damaging Het
Zswim6 C T 13: 107,863,110 (GRCm39) noncoding transcript 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
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
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'- AGGGTATTTGCCTCACTGGG -3'
(R):5'- TCAGATTCCCTCAAAAGCCTCTTG -3'

Sequencing Primer
(F):5'- GCCTCACTGGGGTTAATTAAAAC -3'
(R):5'- CCTCAAAAGCCTCTTGATATAAACG -3'
Posted On 2016-06-15