Incidental Mutation 'R3910:Vmn1r75'
| ID |
309338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r75
|
| Ensembl Gene |
ENSMUSG00000043308 |
| Gene Name |
vomeronasal 1 receptor 75 |
| Synonyms |
V1rg6 |
| MMRRC Submission |
040815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R3910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
11614270-11615187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11614757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 163
(N163I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057229]
[ENSMUST00000226622]
[ENSMUST00000226855]
[ENSMUST00000227611]
[ENSMUST00000228268]
[ENSMUST00000228463]
[ENSMUST00000228646]
|
| AlphaFold |
Q8R289 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057229
AA Change: N163I
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051510
Gene: ENSMUSG00000043308
AA Change: N163I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
294 |
2.9e-10 |
PFAM |
|
Pfam:V1R
|
35 |
293 |
1e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226622
AA Change: N163I
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226855
AA Change: N163I
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227611
AA Change: N121I
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228268
AA Change: N121I
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228463
AA Change: N163I
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228646
AA Change: N121I
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,399,253 (GRCm39) |
V119A |
possibly damaging |
Het |
| Fap |
A |
G |
2: 62,386,448 (GRCm39) |
S58P |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,459,426 (GRCm39) |
T2509S |
probably damaging |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm7104 |
C |
T |
12: 88,251,364 (GRCm39) |
|
noncoding transcript |
Het |
| Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
| Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,423,368 (GRCm39) |
S11P |
possibly damaging |
Het |
| Mycn |
T |
A |
12: 12,987,281 (GRCm39) |
N372I |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Or9a2 |
A |
G |
6: 41,749,083 (GRCm39) |
V50A |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,839,569 (GRCm39) |
E117V |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
| Robo3 |
A |
T |
9: 37,330,591 (GRCm39) |
Y1002N |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,145,156 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
G |
6: 12,331,548 (GRCm39) |
V1342A |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Ugt1a8 |
A |
G |
1: 88,015,770 (GRCm39) |
E61G |
possibly damaging |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 56,173,520 (GRCm39) |
L108F |
probably benign |
Het |
|
| Other mutations in Vmn1r75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01901:Vmn1r75
|
APN |
7 |
11,614,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02175:Vmn1r75
|
APN |
7 |
11,614,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Vmn1r75
|
APN |
7 |
11,615,093 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02648:Vmn1r75
|
APN |
7 |
11,615,091 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03372:Vmn1r75
|
APN |
7 |
11,614,496 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0538:Vmn1r75
|
UTSW |
7 |
11,614,797 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0599:Vmn1r75
|
UTSW |
7 |
11,615,189 (GRCm39) |
splice site |
probably null |
|
|
R4491:Vmn1r75
|
UTSW |
7 |
11,614,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5566:Vmn1r75
|
UTSW |
7 |
11,614,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6051:Vmn1r75
|
UTSW |
7 |
11,614,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Vmn1r75
|
UTSW |
7 |
11,614,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6490:Vmn1r75
|
UTSW |
7 |
11,615,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6570:Vmn1r75
|
UTSW |
7 |
11,614,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7184:Vmn1r75
|
UTSW |
7 |
11,614,915 (GRCm39) |
nonsense |
probably null |
|
|
R7189:Vmn1r75
|
UTSW |
7 |
11,614,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7501:Vmn1r75
|
UTSW |
7 |
11,614,997 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7973:Vmn1r75
|
UTSW |
7 |
11,614,961 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7997:Vmn1r75
|
UTSW |
7 |
11,614,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Vmn1r75
|
UTSW |
7 |
11,614,657 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8812:Vmn1r75
|
UTSW |
7 |
11,614,630 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8932:Vmn1r75
|
UTSW |
7 |
11,614,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Vmn1r75
|
UTSW |
7 |
11,614,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9129:Vmn1r75
|
UTSW |
7 |
11,614,513 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATGTCCCTTTATGCAATGTGTC -3'
(R):5'- TGGCTCTGTCTTCAGGAGAG -3'
Sequencing Primer
(F):5'- ATGTGTCTACTCAGTTGTTTCCAAG -3'
(R):5'- CTTTTAGAGCATGCTGAGCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation