Incidental Mutation 'R6292:Sorcs2'
| ID |
508490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sorcs2
|
| Ensembl Gene |
ENSMUSG00000029093 |
| Gene Name |
sortilin-related VPS10 domain containing receptor 2 |
| Synonyms |
VPS10 domain receptor protein |
| MMRRC Submission |
044461-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36174524-36555483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36219931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 371
(R371H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037370]
[ENSMUST00000135324]
|
| AlphaFold |
Q9EPR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037370
AA Change: R371H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
AA Change: R371H
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135324
|
| SMART Domains |
Protein: ENSMUSP00000123543
Gene: ENSMUSG00000029093
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eur__
|
1 |
111 |
2e-3 |
SMART |
|
Blast:VPS10
|
1 |
173 |
1e-126 |
BLAST |
|
PDB:4N7E|A
|
6 |
117 |
1e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137040
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
| Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
| Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
| Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
| Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,593,426 (GRCm39) |
N418K |
probably damaging |
Het |
| Miga1 |
A |
G |
3: 152,023,356 (GRCm39) |
F232L |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,579,867 (GRCm39) |
E645G |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,507,770 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
| Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
| Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,512,802 (GRCm39) |
V627D |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
| Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
| Slc38a3 |
A |
T |
9: 107,532,353 (GRCm39) |
I393N |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,540,061 (GRCm39) |
Y213F |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
| Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,227,783 (GRCm39) |
R393H |
probably damaging |
Het |
|
| Other mutations in Sorcs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Sorcs2
|
APN |
5 |
36,194,745 (GRCm39) |
splice site |
probably null |
|
|
IGL01064:Sorcs2
|
APN |
5 |
36,222,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01120:Sorcs2
|
APN |
5 |
36,178,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01730:Sorcs2
|
APN |
5 |
36,205,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02542:Sorcs2
|
APN |
5 |
36,183,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02730:Sorcs2
|
APN |
5 |
36,219,896 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02965:Sorcs2
|
APN |
5 |
36,235,301 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02997:Sorcs2
|
APN |
5 |
36,225,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Sorcs2
|
APN |
5 |
36,222,675 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03141:Sorcs2
|
APN |
5 |
36,222,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03184:Sorcs2
|
APN |
5 |
36,188,556 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03412:Sorcs2
|
APN |
5 |
36,203,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Sorcs2
|
UTSW |
5 |
36,311,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Sorcs2
|
UTSW |
5 |
36,554,897 (GRCm39) |
splice site |
probably benign |
|
|
R0345:Sorcs2
|
UTSW |
5 |
36,185,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0519:Sorcs2
|
UTSW |
5 |
36,188,534 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0624:Sorcs2
|
UTSW |
5 |
36,222,777 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0625:Sorcs2
|
UTSW |
5 |
36,181,916 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1169:Sorcs2
|
UTSW |
5 |
36,185,269 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1721:Sorcs2
|
UTSW |
5 |
36,184,092 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1809:Sorcs2
|
UTSW |
5 |
36,386,564 (GRCm39) |
splice site |
probably benign |
|
|
R1935:Sorcs2
|
UTSW |
5 |
36,228,731 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1936:Sorcs2
|
UTSW |
5 |
36,228,731 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2279:Sorcs2
|
UTSW |
5 |
36,199,430 (GRCm39) |
splice site |
probably null |
|
|
R3148:Sorcs2
|
UTSW |
5 |
36,193,132 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3803:Sorcs2
|
UTSW |
5 |
36,555,150 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3863:Sorcs2
|
UTSW |
5 |
36,555,007 (GRCm39) |
nonsense |
probably null |
|
|
R4092:Sorcs2
|
UTSW |
5 |
36,183,166 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4620:Sorcs2
|
UTSW |
5 |
36,194,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5079:Sorcs2
|
UTSW |
5 |
36,200,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5301:Sorcs2
|
UTSW |
5 |
36,196,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Sorcs2
|
UTSW |
5 |
36,188,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5568:Sorcs2
|
UTSW |
5 |
36,203,874 (GRCm39) |
nonsense |
probably null |
|
|
R5727:Sorcs2
|
UTSW |
5 |
36,188,630 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5874:Sorcs2
|
UTSW |
5 |
36,386,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5890:Sorcs2
|
UTSW |
5 |
36,386,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Sorcs2
|
UTSW |
5 |
36,186,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Sorcs2
|
UTSW |
5 |
36,176,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6048:Sorcs2
|
UTSW |
5 |
36,185,332 (GRCm39) |
splice site |
probably null |
|
|
R6290:Sorcs2
|
UTSW |
5 |
36,219,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Sorcs2
|
UTSW |
5 |
36,235,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Sorcs2
|
UTSW |
5 |
36,555,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7024:Sorcs2
|
UTSW |
5 |
36,178,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7056:Sorcs2
|
UTSW |
5 |
36,225,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7569:Sorcs2
|
UTSW |
5 |
36,183,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7641:Sorcs2
|
UTSW |
5 |
36,555,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7651:Sorcs2
|
UTSW |
5 |
36,185,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Sorcs2
|
UTSW |
5 |
36,555,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7722:Sorcs2
|
UTSW |
5 |
36,200,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Sorcs2
|
UTSW |
5 |
36,386,519 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7764:Sorcs2
|
UTSW |
5 |
36,181,416 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7813:Sorcs2
|
UTSW |
5 |
36,181,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8142:Sorcs2
|
UTSW |
5 |
36,219,958 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8246:Sorcs2
|
UTSW |
5 |
36,219,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8254:Sorcs2
|
UTSW |
5 |
36,195,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8349:Sorcs2
|
UTSW |
5 |
36,386,519 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8350:Sorcs2
|
UTSW |
5 |
36,311,207 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8354:Sorcs2
|
UTSW |
5 |
36,222,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8449:Sorcs2
|
UTSW |
5 |
36,386,519 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8679:Sorcs2
|
UTSW |
5 |
36,196,657 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8771:Sorcs2
|
UTSW |
5 |
36,188,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Sorcs2
|
UTSW |
5 |
36,193,202 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8964:Sorcs2
|
UTSW |
5 |
36,386,511 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9164:Sorcs2
|
UTSW |
5 |
36,235,312 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9221:Sorcs2
|
UTSW |
5 |
36,181,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9290:Sorcs2
|
UTSW |
5 |
36,183,225 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9358:Sorcs2
|
UTSW |
5 |
36,200,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9492:Sorcs2
|
UTSW |
5 |
36,186,484 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9493:Sorcs2
|
UTSW |
5 |
36,199,529 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9640:Sorcs2
|
UTSW |
5 |
36,222,765 (GRCm39) |
nonsense |
probably null |
|
|
RF063:Sorcs2
|
UTSW |
5 |
36,311,155 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTTCTTTGCACATGCTC -3'
(R):5'- TCTTAGGTGACTCTGAATCTGAC -3'
Sequencing Primer
(F):5'- CACTTTATTATAATAGGCTGGCAGGG -3'
(R):5'- GTGACTCTGAATCTGACAAGAGCTAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation