Incidental Mutation 'K7894:Vmn1r58'
| ID |
26517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r58
|
| Ensembl Gene |
ENSMUSG00000078808 |
| Gene Name |
vomeronasal 1 receptor 58 |
| Synonyms |
V3R4, V1rd4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
K7894 ()
of strain
468
|
| Quality Score |
222 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
5411886-5416144 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5413702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 176
(N176S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108569]
[ENSMUST00000228728]
|
| AlphaFold |
G3X9U3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108569
AA Change: N176S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000104209
Gene: ENSMUSG00000078808
AA Change: N176S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
296 |
7.8e-13 |
PFAM |
|
Pfam:7tm_1
|
20 |
279 |
4.4e-7 |
PFAM |
|
Pfam:V1R
|
31 |
296 |
7.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228728
AA Change: N176S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.4%
|
| Validation Efficiency |
88% (22/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
CAA |
3: 121,941,517 (GRCm39) |
|
probably null |
Het |
| Acsl4 |
C |
T |
X: 141,111,056 (GRCm39) |
V632I |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,694,083 (GRCm39) |
H398R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,896,579 (GRCm39) |
|
probably benign |
Het |
| Ccpg1 |
T |
C |
9: 72,909,159 (GRCm39) |
|
probably null |
Het |
| Clk4 |
G |
T |
11: 51,166,593 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
C |
T |
11: 22,039,683 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
T |
C |
7: 119,384,494 (GRCm39) |
D669G |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,323 (GRCm39) |
S419P |
possibly damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,739 (GRCm39) |
T104A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,956,513 (GRCm39) |
P304H |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,476,459 (GRCm39) |
Y356C |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,881,338 (GRCm39) |
D151G |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,026,576 (GRCm39) |
V365A |
probably benign |
Het |
|
| Other mutations in Vmn1r58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Vmn1r58
|
APN |
7 |
5,414,054 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02792:Vmn1r58
|
APN |
7 |
5,414,228 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
IGL03215:Vmn1r58
|
APN |
7 |
5,413,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03259:Vmn1r58
|
APN |
7 |
5,414,086 (GRCm39) |
nonsense |
probably null |
|
|
R0033:Vmn1r58
|
UTSW |
7 |
5,413,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0225:Vmn1r58
|
UTSW |
7 |
5,413,865 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0304:Vmn1r58
|
UTSW |
7 |
5,413,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Vmn1r58
|
UTSW |
7 |
5,413,329 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0363:Vmn1r58
|
UTSW |
7 |
5,413,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Vmn1r58
|
UTSW |
7 |
5,413,997 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0565:Vmn1r58
|
UTSW |
7 |
5,414,165 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0612:Vmn1r58
|
UTSW |
7 |
5,413,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Vmn1r58
|
UTSW |
7 |
5,413,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0853:Vmn1r58
|
UTSW |
7 |
5,413,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Vmn1r58
|
UTSW |
7 |
5,413,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1696:Vmn1r58
|
UTSW |
7 |
5,413,727 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1823:Vmn1r58
|
UTSW |
7 |
5,413,405 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2326:Vmn1r58
|
UTSW |
7 |
5,413,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Vmn1r58
|
UTSW |
7 |
5,413,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5065:Vmn1r58
|
UTSW |
7 |
5,413,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5087:Vmn1r58
|
UTSW |
7 |
5,413,666 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5407:Vmn1r58
|
UTSW |
7 |
5,413,872 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6855:Vmn1r58
|
UTSW |
7 |
5,413,451 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7052:Vmn1r58
|
UTSW |
7 |
5,414,134 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7334:Vmn1r58
|
UTSW |
7 |
5,414,066 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7763:Vmn1r58
|
UTSW |
7 |
5,413,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Vmn1r58
|
UTSW |
7 |
5,414,242 (GRCm39) |
start gained |
probably benign |
|
|
R7875:Vmn1r58
|
UTSW |
7 |
5,413,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8004:Vmn1r58
|
UTSW |
7 |
5,413,506 (GRCm39) |
nonsense |
probably null |
|
|
R8115:Vmn1r58
|
UTSW |
7 |
5,413,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8781:Vmn1r58
|
UTSW |
7 |
5,413,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8802:Vmn1r58
|
UTSW |
7 |
5,414,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Vmn1r58
|
UTSW |
7 |
5,413,394 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Vmn1r58
|
UTSW |
7 |
5,413,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGCATACCTCAACCAGAGACG -3'
(R):5'- GGAAGCCTCCAACTGACCTCAAATG -3'
Sequencing Primer
(F):5'- TGTGACCACCAGCATCAGG -3'
(R):5'- GAGGCACAATCATGTGCTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation