Incidental Mutation 'R3030:Vmn1r76'
| ID |
264693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r76
|
| Ensembl Gene |
ENSMUSG00000115267 |
| Gene Name |
vomeronasal 1 receptor 76 |
| Synonyms |
V1rg4 |
| MMRRC Submission |
040546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R3030 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
11664238-11665212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11664402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 236
(S236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058772]
[ENSMUST00000226300]
[ENSMUST00000226947]
|
| AlphaFold |
F8VQ63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058772
AA Change: S271P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055518
Gene: ENSMUSG00000115267
AA Change: S271P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
54 |
317 |
5.4e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226300
AA Change: S236P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226947
AA Change: S236P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,477,682 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Acad8 |
G |
T |
9: 26,890,355 (GRCm39) |
H287N |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,843,509 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,941,160 (GRCm39) |
D46V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| Dytn |
T |
A |
1: 63,672,678 (GRCm39) |
E575V |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fbln2 |
G |
A |
6: 91,210,697 (GRCm39) |
E214K |
probably damaging |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,925,487 (GRCm39) |
C963* |
probably null |
Het |
| Hspb1 |
C |
T |
5: 135,918,267 (GRCm39) |
Q205* |
probably null |
Het |
| Itpkc |
G |
A |
7: 26,911,733 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
G |
T |
7: 139,481,123 (GRCm39) |
A70S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,330,747 (GRCm39) |
R550C |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,591,184 (GRCm39) |
K199E |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,573,215 (GRCm39) |
M705V |
probably benign |
Het |
| Slc22a3 |
T |
C |
17: 12,676,521 (GRCm39) |
I291V |
probably benign |
Het |
| Smarca2 |
A |
C |
19: 26,729,429 (GRCm39) |
N100T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,722,458 (GRCm39) |
F331S |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,598 (GRCm39) |
Q2445R |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,062 (GRCm39) |
S235P |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,444 (GRCm39) |
T360A |
probably benign |
Het |
|
| Other mutations in Vmn1r76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Vmn1r76
|
APN |
7 |
11,664,309 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01353:Vmn1r76
|
APN |
7 |
11,664,737 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02105:Vmn1r76
|
APN |
7 |
11,664,417 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0032:Vmn1r76
|
UTSW |
7 |
11,665,194 (GRCm39) |
missense |
probably benign |
|
|
R0879:Vmn1r76
|
UTSW |
7 |
11,664,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1201:Vmn1r76
|
UTSW |
7 |
11,664,252 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1966:Vmn1r76
|
UTSW |
7 |
11,664,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:Vmn1r76
|
UTSW |
7 |
11,664,496 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4295:Vmn1r76
|
UTSW |
7 |
11,665,057 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5053:Vmn1r76
|
UTSW |
7 |
11,664,241 (GRCm39) |
splice site |
probably null |
|
|
R5450:Vmn1r76
|
UTSW |
7 |
11,664,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Vmn1r76
|
UTSW |
7 |
11,665,062 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6382:Vmn1r76
|
UTSW |
7 |
11,664,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Vmn1r76
|
UTSW |
7 |
11,664,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7704:Vmn1r76
|
UTSW |
7 |
11,664,344 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8018:Vmn1r76
|
UTSW |
7 |
11,664,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8540:Vmn1r76
|
UTSW |
7 |
11,664,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9321:Vmn1r76
|
UTSW |
7 |
11,665,094 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9393:Vmn1r76
|
UTSW |
7 |
11,664,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Vmn1r76
|
UTSW |
7 |
11,664,495 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAGAAATAAGGTCTCAAATCC -3'
(R):5'- CATGGTTCTCCTTAAGCAATTTTGC -3'
Sequencing Primer
(F):5'- CCCTAGACTTCATGTTGCT -3'
(R):5'- GCAACTGCACTGTACTTGTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation