Incidental Mutation 'R0904:Vmn1r52'
| ID |
83247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r52
|
| Ensembl Gene |
ENSMUSG00000060816 |
| Gene Name |
vomeronasal 1 receptor 52 |
| Synonyms |
V1ra7, VN3 |
| MMRRC Submission |
039062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0904 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
90155698-90156627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90156446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 71
(M71K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079832]
[ENSMUST00000226520]
[ENSMUST00000227100]
[ENSMUST00000227578]
[ENSMUST00000227893]
[ENSMUST00000228385]
[ENSMUST00000228394]
[ENSMUST00000228665]
|
| AlphaFold |
Q9EP79 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079832
AA Change: M250K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078760
Gene: ENSMUSG00000060816
AA Change: M250K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
38 |
302 |
1e-93 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204789
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226520
AA Change: M250K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227100
AA Change: M50K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227578
AA Change: M71K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227893
AA Change: M250K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228385
AA Change: M62K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228394
AA Change: M250K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228665
AA Change: M250K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,975,118 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,248,740 (GRCm39) |
V2829A |
probably benign |
Het |
| Adk |
G |
T |
14: 21,142,496 (GRCm39) |
D26Y |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,106,145 (GRCm39) |
|
probably benign |
Het |
| Dap |
G |
A |
15: 31,272,526 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
A |
T |
4: 94,795,892 (GRCm39) |
S270T |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,619,487 (GRCm39) |
D764G |
probably damaging |
Het |
| Fbxl6 |
A |
T |
15: 76,421,283 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,268,014 (GRCm39) |
|
probably benign |
Het |
| H2-D1 |
G |
C |
17: 35,482,837 (GRCm39) |
M122I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map1s |
C |
A |
8: 71,366,832 (GRCm39) |
P579Q |
probably damaging |
Het |
| Mapk10 |
A |
G |
5: 103,135,146 (GRCm39) |
|
probably benign |
Het |
| Mllt6 |
C |
G |
11: 97,555,824 (GRCm39) |
C51W |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Neurod2 |
G |
T |
11: 98,218,147 (GRCm39) |
T339K |
probably benign |
Het |
| Nfya |
G |
A |
17: 48,702,815 (GRCm39) |
Q29* |
probably null |
Het |
| Nipbl |
A |
T |
15: 8,391,202 (GRCm39) |
D257E |
probably benign |
Het |
| Pate5 |
T |
C |
9: 35,750,366 (GRCm39) |
D102G |
probably damaging |
Het |
| Pex5 |
G |
A |
6: 124,376,896 (GRCm39) |
|
probably benign |
Het |
| Pramel47 |
A |
C |
5: 95,489,186 (GRCm39) |
T210P |
probably damaging |
Het |
| Prx |
T |
A |
7: 27,217,719 (GRCm39) |
F879Y |
probably damaging |
Het |
| Resf1 |
G |
A |
6: 149,229,767 (GRCm39) |
A938T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,965,164 (GRCm39) |
T560M |
possibly damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,235 (GRCm39) |
|
noncoding transcript |
Het |
| Spdye4b |
A |
G |
5: 143,181,423 (GRCm39) |
|
probably benign |
Het |
| Ss18l1 |
A |
G |
2: 179,701,147 (GRCm39) |
Y287C |
probably damaging |
Het |
| Tpbg |
C |
A |
9: 85,726,617 (GRCm39) |
F195L |
unknown |
Het |
| Trbv16 |
T |
C |
6: 41,128,781 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,509,601 (GRCm39) |
T620A |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,091,310 (GRCm39) |
S259P |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,719,094 (GRCm39) |
I816F |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,348,745 (GRCm39) |
Y61H |
possibly damaging |
Het |
|
| Other mutations in Vmn1r52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01721:Vmn1r52
|
APN |
6 |
90,155,905 (GRCm39) |
missense |
probably benign |
|
|
IGL02102:Vmn1r52
|
APN |
6 |
90,156,189 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02583:Vmn1r52
|
APN |
6 |
90,156,126 (GRCm39) |
nonsense |
probably null |
|
|
IGL02938:Vmn1r52
|
APN |
6 |
90,156,295 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0233:Vmn1r52
|
UTSW |
6 |
90,156,593 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0233:Vmn1r52
|
UTSW |
6 |
90,156,593 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2190:Vmn1r52
|
UTSW |
6 |
90,156,151 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4184:Vmn1r52
|
UTSW |
6 |
90,156,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4906:Vmn1r52
|
UTSW |
6 |
90,155,930 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5475:Vmn1r52
|
UTSW |
6 |
90,155,894 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5689:Vmn1r52
|
UTSW |
6 |
90,156,232 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5740:Vmn1r52
|
UTSW |
6 |
90,156,176 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7263:Vmn1r52
|
UTSW |
6 |
90,156,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7337:Vmn1r52
|
UTSW |
6 |
90,156,605 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7374:Vmn1r52
|
UTSW |
6 |
90,156,118 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8161:Vmn1r52
|
UTSW |
6 |
90,156,239 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8699:Vmn1r52
|
UTSW |
6 |
90,155,742 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8747:Vmn1r52
|
UTSW |
6 |
90,156,451 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9721:Vmn1r52
|
UTSW |
6 |
90,156,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACACTGTTGGCTTTCAGGAATG -3'
(R):5'- TCAGATTGTGACAAGCCTGATCACC -3'
Sequencing Primer
(F):5'- CAGGAATGTCTTTGTTATTGGTCTC -3'
(R):5'- TGCCAAATGATGGCTCACTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation