Incidental Mutation 'R3124:Vmn1r87'
| ID |
264195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r87
|
| Ensembl Gene |
ENSMUSG00000070815 |
| Gene Name |
vomeronasal 1 receptor 87 |
| Synonyms |
V1rk1 |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12865398-12866285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12865493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 265
(Y265H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094827]
[ENSMUST00000211249]
[ENSMUST00000227443]
[ENSMUST00000228800]
|
| AlphaFold |
Q8R255 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094827
AA Change: Y265H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092422
Gene: ENSMUSG00000070815
AA Change: Y265H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
285 |
1.2e-11 |
PFAM |
|
Pfam:V1R
|
14 |
280 |
1.8e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211249
AA Change: Y265H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227443
AA Change: Y265H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228800
AA Change: Y265H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
|
| Other mutations in Vmn1r87 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Vmn1r87
|
APN |
7 |
12,866,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Vmn1r87
|
APN |
7 |
12,865,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02972:Vmn1r87
|
APN |
7 |
12,866,256 (GRCm39) |
nonsense |
probably null |
|
|
IGL03246:Vmn1r87
|
APN |
7 |
12,866,288 (GRCm39) |
utr 5 prime |
probably benign |
|
|
PIT4142001:Vmn1r87
|
UTSW |
7 |
12,866,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0153:Vmn1r87
|
UTSW |
7 |
12,866,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0502:Vmn1r87
|
UTSW |
7 |
12,865,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Vmn1r87
|
UTSW |
7 |
12,865,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Vmn1r87
|
UTSW |
7 |
12,865,703 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1731:Vmn1r87
|
UTSW |
7 |
12,865,703 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2027:Vmn1r87
|
UTSW |
7 |
12,865,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2044:Vmn1r87
|
UTSW |
7 |
12,865,748 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4208:Vmn1r87
|
UTSW |
7 |
12,866,185 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4731:Vmn1r87
|
UTSW |
7 |
12,866,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4732:Vmn1r87
|
UTSW |
7 |
12,866,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4733:Vmn1r87
|
UTSW |
7 |
12,866,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5079:Vmn1r87
|
UTSW |
7 |
12,866,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5125:Vmn1r87
|
UTSW |
7 |
12,865,792 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5178:Vmn1r87
|
UTSW |
7 |
12,865,792 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6599:Vmn1r87
|
UTSW |
7 |
12,865,886 (GRCm39) |
nonsense |
probably null |
|
|
R7067:Vmn1r87
|
UTSW |
7 |
12,865,849 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7560:Vmn1r87
|
UTSW |
7 |
12,865,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Vmn1r87
|
UTSW |
7 |
12,865,613 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7910:Vmn1r87
|
UTSW |
7 |
12,865,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8040:Vmn1r87
|
UTSW |
7 |
12,866,086 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8220:Vmn1r87
|
UTSW |
7 |
12,865,427 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9690:Vmn1r87
|
UTSW |
7 |
12,866,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0028:Vmn1r87
|
UTSW |
7 |
12,865,910 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGATATTATATACTCAGGCATGC -3'
(R):5'- TAGGAGTACACGGCATGTCCAC -3'
Sequencing Primer
(F):5'- CATGCTATGGCTATTTTGCTCATG -3'
(R):5'- ACGGCATGTCCACAGTTTCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation