Incidental Mutation 'R2426:Sorcs3'
| ID |
250252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sorcs3
|
| Ensembl Gene |
ENSMUSG00000063434 |
| Gene Name |
sortilin-related VPS10 domain containing receptor 3 |
| Synonyms |
6330404A12Rik |
| MMRRC Submission |
040388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2426 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
48194464-48793944 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48711364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 643
(Y643F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078880]
|
| AlphaFold |
Q8VI51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078880
AA Change: Y643F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077919
Gene: ENSMUSG00000063434
AA Change: Y643F
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
T |
7: 119,882,446 (GRCm39) |
V1203L |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,075,025 (GRCm39) |
V131I |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
| Agbl1 |
T |
C |
7: 76,071,650 (GRCm39) |
V324A |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,980,215 (GRCm39) |
I500F |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,266 (GRCm39) |
D851G |
probably damaging |
Het |
| Amot |
T |
C |
X: 144,259,287 (GRCm39) |
K460E |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 27,106,138 (GRCm39) |
E161* |
probably null |
Het |
| Atg9b |
A |
T |
5: 24,591,992 (GRCm39) |
I669N |
probably damaging |
Het |
| Ccdc83 |
A |
G |
7: 89,877,639 (GRCm39) |
Y268H |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,602,201 (GRCm39) |
S302P |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,428,213 (GRCm39) |
M303K |
probably damaging |
Het |
| Cyp4v3 |
T |
A |
8: 45,770,813 (GRCm39) |
Y231F |
probably benign |
Het |
| Defa39 |
T |
G |
8: 22,192,653 (GRCm39) |
K114N |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,791,740 (GRCm39) |
L1411Q |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,469,861 (GRCm39) |
I629N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,231,893 (GRCm39) |
H2837L |
probably benign |
Het |
| Fam114a2 |
G |
A |
11: 57,383,906 (GRCm39) |
P343L |
probably benign |
Het |
| Fbrs |
A |
G |
7: 127,086,511 (GRCm39) |
|
probably null |
Het |
| Fbxl13 |
A |
C |
5: 21,727,135 (GRCm39) |
D620E |
probably damaging |
Het |
| Frmd4a |
T |
A |
2: 4,534,673 (GRCm39) |
S164T |
probably damaging |
Het |
| Gdi2 |
T |
G |
13: 3,612,034 (GRCm39) |
S330A |
probably benign |
Het |
| Gm5878 |
A |
T |
6: 85,095,613 (GRCm39) |
M70K |
probably benign |
Het |
| H2-Q6 |
G |
T |
17: 35,643,913 (GRCm39) |
A21S |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 106,995,519 (GRCm39) |
|
probably null |
Het |
| Hnmt |
C |
T |
2: 23,909,167 (GRCm39) |
C82Y |
probably benign |
Het |
| Il1rl1 |
C |
A |
1: 40,485,779 (GRCm39) |
A310D |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,757,569 (GRCm39) |
|
probably null |
Het |
| Kcne4 |
C |
A |
1: 78,795,688 (GRCm39) |
A112E |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 99,977,192 (GRCm39) |
K236R |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,617,794 (GRCm39) |
L380P |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,938,356 (GRCm39) |
D218E |
possibly damaging |
Het |
| Mon1b |
G |
A |
8: 114,365,752 (GRCm39) |
G360D |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,169,216 (GRCm39) |
S383P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,059,065 (GRCm39) |
|
probably null |
Het |
| Nlgn2 |
A |
T |
11: 69,717,912 (GRCm39) |
I431N |
probably damaging |
Het |
| Nr2e1 |
A |
G |
10: 42,439,481 (GRCm39) |
L134P |
probably damaging |
Het |
| Opcml |
G |
A |
9: 28,814,663 (GRCm39) |
|
probably null |
Het |
| Or2t29 |
A |
T |
11: 58,433,920 (GRCm39) |
Y127* |
probably null |
Het |
| Or6c207 |
T |
C |
10: 129,105,135 (GRCm39) |
Q19R |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,693 (GRCm39) |
S190P |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,776 (GRCm39) |
|
probably null |
Het |
| Pgr |
G |
A |
9: 8,900,718 (GRCm39) |
V84M |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,002 (GRCm39) |
V296D |
probably damaging |
Het |
| Plcb2 |
G |
A |
2: 118,546,130 (GRCm39) |
T555M |
probably damaging |
Het |
| Pld5 |
T |
G |
1: 175,791,542 (GRCm39) |
D426A |
probably benign |
Het |
| Prdm2 |
G |
T |
4: 142,838,320 (GRCm39) |
C1679* |
probably null |
Het |
| Psme2b |
A |
T |
11: 48,836,890 (GRCm39) |
V19D |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 56,934,712 (GRCm39) |
N159Y |
possibly damaging |
Het |
| Sanbr |
T |
A |
11: 23,526,801 (GRCm39) |
R190W |
probably damaging |
Het |
| Sdc3 |
A |
T |
4: 130,546,114 (GRCm39) |
T64S |
unknown |
Het |
| Serping1 |
T |
G |
2: 84,600,563 (GRCm39) |
S260R |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,050,150 (GRCm39) |
F436S |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,769,575 (GRCm39) |
I138N |
probably damaging |
Het |
| Spink1 |
G |
T |
18: 43,868,287 (GRCm39) |
S23* |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,727,169 (GRCm39) |
|
probably null |
Het |
| Tnfaip8l1 |
G |
A |
17: 56,479,030 (GRCm39) |
V107I |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,700,830 (GRCm39) |
S907G |
probably damaging |
Het |
| Ttf1 |
T |
A |
2: 28,957,197 (GRCm39) |
M489K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp54 |
G |
A |
14: 20,615,008 (GRCm39) |
A811V |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,344,815 (GRCm39) |
N2352S |
probably benign |
Het |
| Zan |
T |
C |
5: 137,387,254 (GRCm39) |
Y4933C |
unknown |
Het |
| Zbtb8a |
A |
G |
4: 129,254,012 (GRCm39) |
S161P |
probably benign |
Het |
| Zkscan5 |
A |
T |
5: 145,157,750 (GRCm39) |
I751L |
probably benign |
Het |
| Zscan4d |
A |
G |
7: 10,899,022 (GRCm39) |
F85S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,806,091 (GRCm39) |
M2647V |
probably benign |
Het |
|
| Other mutations in Sorcs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- CTGTCCTGCGAAGAGAAATTTTGATC -3'
(R):5'- CAATTAGGGCTCGAGTTCCTG -3'
Sequencing Primer
(F):5'- CTGCGAAGAGAAATTTTGATCAAATC -3'
(R):5'- GGAAACTCTTGCTTTGAGAAGAAATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation