Incidental Mutation 'R9423:Vmn2r54'
| ID |
712433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r54
|
| Ensembl Gene |
ENSMUSG00000096593 |
| Gene Name |
vomeronasal 2, receptor 54 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12349441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 714
(S714C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
| AlphaFold |
A0A3B2W422 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086210
AA Change: S714C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: S714C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
4.3e-58 |
PFAM |
|
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
|
Pfam:7tm_3
|
526 |
763 |
1.2e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (23/23) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,520 (GRCm39) |
S959P |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
| Abcb10 |
A |
G |
8: 124,688,819 (GRCm39) |
S486P |
|
Het |
| Adamts19 |
G |
T |
18: 59,023,427 (GRCm39) |
R274L |
possibly damaging |
Het |
| Ahcyl1 |
C |
T |
3: 107,578,476 (GRCm39) |
E254K |
probably damaging |
Het |
| Ccdc177 |
T |
G |
12: 80,804,162 (GRCm39) |
D704A |
unknown |
Het |
| Cd200r3 |
T |
C |
16: 44,771,895 (GRCm39) |
V53A |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,363,329 (GRCm39) |
L429P |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,148,387 (GRCm39) |
D2660G |
probably damaging |
Het |
| Cfap61 |
G |
T |
2: 145,985,155 (GRCm39) |
A1000S |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 7,999,601 (GRCm39) |
T1039A |
probably benign |
Het |
| Ctsd |
A |
G |
7: 141,939,212 (GRCm39) |
L71P |
probably damaging |
Het |
| Dab2ip |
C |
T |
2: 35,599,966 (GRCm39) |
T251M |
probably damaging |
Het |
| Dcaf8 |
T |
A |
1: 172,007,524 (GRCm39) |
I331N |
probably damaging |
Het |
| Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
| Dgka |
C |
T |
10: 128,557,055 (GRCm39) |
C640Y |
probably damaging |
Het |
| Entrep3 |
T |
A |
3: 89,092,007 (GRCm39) |
L155Q |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
| Htr2a |
T |
A |
14: 74,943,516 (GRCm39) |
F365L |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,515,705 (GRCm39) |
Y110H |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,912,318 (GRCm39) |
T362A |
probably benign |
Het |
| Ltbp1 |
G |
A |
17: 75,597,112 (GRCm39) |
S581N |
probably benign |
Het |
| Nr1h4 |
C |
A |
10: 89,309,688 (GRCm39) |
R347L |
possibly damaging |
Het |
| Or4f60 |
A |
T |
2: 111,902,808 (GRCm39) |
M40K |
possibly damaging |
Het |
| Or8g26 |
G |
T |
9: 39,095,838 (GRCm39) |
M118I |
probably damaging |
Het |
| Parg |
T |
G |
14: 31,939,662 (GRCm39) |
F563V |
probably damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,487,276 (GRCm39) |
Y378C |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pitpnm2 |
A |
C |
5: 124,271,469 (GRCm39) |
L368R |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,350,312 (GRCm39) |
T386A |
possibly damaging |
Het |
| Plch2 |
C |
A |
4: 155,071,049 (GRCm39) |
C1110F |
|
Het |
| Poc5 |
T |
C |
13: 96,547,114 (GRCm39) |
V459A |
probably damaging |
Het |
| Pou4f3 |
T |
C |
18: 42,528,959 (GRCm39) |
S301P |
probably damaging |
Het |
| Rpf2 |
T |
C |
10: 40,101,336 (GRCm39) |
D233G |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,113,633 (GRCm39) |
Y111H |
probably benign |
Het |
| Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
| Serpinb1a |
C |
T |
13: 33,026,910 (GRCm39) |
C344Y |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,081,007 (GRCm39) |
V1524A |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,158,025 (GRCm39) |
H463R |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,948,300 (GRCm39) |
L674Q |
probably damaging |
Het |
| Slc3a2 |
T |
A |
19: 8,690,189 (GRCm39) |
K201M |
possibly damaging |
Het |
| Spata31h1 |
C |
A |
10: 82,123,459 (GRCm39) |
V3184L |
possibly damaging |
Het |
| Stam |
C |
A |
2: 14,146,564 (GRCm39) |
Q421K |
possibly damaging |
Het |
| Steap4 |
G |
A |
5: 8,026,720 (GRCm39) |
V228M |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,638,043 (GRCm39) |
Y400C |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,155,396 (GRCm39) |
V54A |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,880,527 (GRCm39) |
E444D |
probably benign |
Het |
| Trim30a |
A |
T |
7: 104,078,410 (GRCm39) |
L222Q |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,325,817 (GRCm39) |
Y421H |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,288,867 (GRCm39) |
F2500L |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,227,735 (GRCm39) |
I409T |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,397,624 (GRCm39) |
L57P |
probably damaging |
Het |
|
| Other mutations in Vmn2r54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Vmn2r54
|
APN |
7 |
12,365,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL01778:Vmn2r54
|
APN |
7 |
12,366,009 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01998:Vmn2r54
|
APN |
7 |
12,349,227 (GRCm39) |
missense |
probably benign |
|
|
IGL02028:Vmn2r54
|
APN |
7 |
12,366,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02064:Vmn2r54
|
APN |
7 |
12,349,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02238:Vmn2r54
|
APN |
7 |
12,369,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Vmn2r54
|
APN |
7 |
12,366,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03120:Vmn2r54
|
APN |
7 |
12,349,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Vmn2r54
|
UTSW |
7 |
12,363,669 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0212:Vmn2r54
|
UTSW |
7 |
12,366,424 (GRCm39) |
missense |
probably benign |
|
|
R0360:Vmn2r54
|
UTSW |
7 |
12,349,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Vmn2r54
|
UTSW |
7 |
12,366,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Vmn2r54
|
UTSW |
7 |
12,350,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1738:Vmn2r54
|
UTSW |
7 |
12,369,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1856:Vmn2r54
|
UTSW |
7 |
12,366,238 (GRCm39) |
missense |
probably benign |
|
|
R2012:Vmn2r54
|
UTSW |
7 |
12,349,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Vmn2r54
|
UTSW |
7 |
12,363,637 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2160:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2397:Vmn2r54
|
UTSW |
7 |
12,349,578 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2430:Vmn2r54
|
UTSW |
7 |
12,365,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2829:Vmn2r54
|
UTSW |
7 |
12,349,617 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2975:Vmn2r54
|
UTSW |
7 |
12,369,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3005:Vmn2r54
|
UTSW |
7 |
12,349,221 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3725:Vmn2r54
|
UTSW |
7 |
12,366,223 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4486:Vmn2r54
|
UTSW |
7 |
12,366,199 (GRCm39) |
nonsense |
probably null |
|
|
R4881:Vmn2r54
|
UTSW |
7 |
12,363,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4907:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
|
R5536:Vmn2r54
|
UTSW |
7 |
12,366,343 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5637:Vmn2r54
|
UTSW |
7 |
12,349,296 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5703:Vmn2r54
|
UTSW |
7 |
12,363,594 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5769:Vmn2r54
|
UTSW |
7 |
12,349,209 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5972:Vmn2r54
|
UTSW |
7 |
12,369,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Vmn2r54
|
UTSW |
7 |
12,349,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Vmn2r54
|
UTSW |
7 |
12,366,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Vmn2r54
|
UTSW |
7 |
12,366,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6176:Vmn2r54
|
UTSW |
7 |
12,349,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Vmn2r54
|
UTSW |
7 |
12,365,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6371:Vmn2r54
|
UTSW |
7 |
12,349,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Vmn2r54
|
UTSW |
7 |
12,363,792 (GRCm39) |
missense |
probably benign |
|
|
R6886:Vmn2r54
|
UTSW |
7 |
12,366,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7041:Vmn2r54
|
UTSW |
7 |
12,363,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7058:Vmn2r54
|
UTSW |
7 |
12,349,722 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7113:Vmn2r54
|
UTSW |
7 |
12,350,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Vmn2r54
|
UTSW |
7 |
12,356,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7126:Vmn2r54
|
UTSW |
7 |
12,366,088 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7236:Vmn2r54
|
UTSW |
7 |
12,365,917 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7337:Vmn2r54
|
UTSW |
7 |
12,356,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7406:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
|
R7634:Vmn2r54
|
UTSW |
7 |
12,349,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Vmn2r54
|
UTSW |
7 |
12,366,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8139:Vmn2r54
|
UTSW |
7 |
12,349,743 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8158:Vmn2r54
|
UTSW |
7 |
12,349,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Vmn2r54
|
UTSW |
7 |
12,366,018 (GRCm39) |
nonsense |
probably null |
|
|
R8440:Vmn2r54
|
UTSW |
7 |
12,350,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8712:Vmn2r54
|
UTSW |
7 |
12,369,877 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8853:Vmn2r54
|
UTSW |
7 |
12,349,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Vmn2r54
|
UTSW |
7 |
12,363,702 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9146:Vmn2r54
|
UTSW |
7 |
12,366,647 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9157:Vmn2r54
|
UTSW |
7 |
12,366,055 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9344:Vmn2r54
|
UTSW |
7 |
12,366,283 (GRCm39) |
missense |
probably benign |
|
|
R9534:Vmn2r54
|
UTSW |
7 |
12,366,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9632:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9661:Vmn2r54
|
UTSW |
7 |
12,349,166 (GRCm39) |
missense |
probably benign |
|
|
R9710:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
U24488:Vmn2r54
|
UTSW |
7 |
12,349,356 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0066:Vmn2r54
|
UTSW |
7 |
12,349,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r54
|
UTSW |
7 |
12,366,035 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2022-05-16 |
Incidental Mutation