Incidental Mutation 'R2326:Vmn1r58'
| ID |
244913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r58
|
| Ensembl Gene |
ENSMUSG00000078808 |
| Gene Name |
vomeronasal 1 receptor 58 |
| Synonyms |
V3R4, V1rd4 |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R2326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5411886-5416144 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5413939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 97
(T97N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108569]
[ENSMUST00000228728]
|
| AlphaFold |
G3X9U3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108569
AA Change: T97N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104209
Gene: ENSMUSG00000078808
AA Change: T97N
| 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 damaging
Transcript: ENSMUST00000228728
AA Change: T97N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
possibly damaging |
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 |
|
|
K7894:Vmn1r58
|
UTSW |
7 |
5,413,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TCTGTGGACCACTGACATTC -3'
(R):5'- GTGGGCAACATCCTTCTGTTTG -3'
Sequencing Primer
(F):5'- CCACTGACATTCATTGGGATGTAAGC -3'
(R):5'- TCTTGACTGACTCCAGACTGAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation