Incidental Mutation 'R0853:Vmn1r58'
| ID |
82614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r58
|
| Ensembl Gene |
ENSMUSG00000078808 |
| Gene Name |
vomeronasal 1 receptor 58 |
| Synonyms |
V3R4, V1rd4 |
| MMRRC Submission |
039032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0853 (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 5413324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 302
(T302K)
|
| 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: T302K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104209
Gene: ENSMUSG00000078808
AA Change: T302K
| 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: T302K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.9%
|
| Validation Efficiency |
93% (42/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
G |
T |
9: 14,504,074 (GRCm39) |
P378Q |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,780,847 (GRCm39) |
E365G |
probably damaging |
Het |
| Asb6 |
G |
A |
2: 30,717,042 (GRCm39) |
P61L |
possibly damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atxn7 |
C |
A |
14: 14,089,465 (GRCm38) |
|
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,522,664 (GRCm39) |
I290N |
probably damaging |
Het |
| Ccser2 |
A |
C |
14: 36,662,367 (GRCm39) |
S272R |
probably benign |
Het |
| Cfh |
T |
A |
1: 140,033,228 (GRCm39) |
H772L |
probably damaging |
Het |
| Cldn6 |
T |
G |
17: 23,900,438 (GRCm39) |
I134S |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,382,484 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
T |
C |
15: 84,932,726 (GRCm39) |
F156S |
possibly damaging |
Het |
| Fgd4 |
T |
A |
16: 16,292,251 (GRCm39) |
|
probably benign |
Het |
| Gckr |
G |
C |
5: 31,462,392 (GRCm39) |
A242P |
probably damaging |
Het |
| Gcnt4 |
A |
G |
13: 97,083,343 (GRCm39) |
D213G |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,779 (GRCm39) |
V237E |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,853,549 (GRCm39) |
L570P |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,107,495 (GRCm39) |
K827* |
probably null |
Het |
| Hyal6 |
T |
C |
6: 24,734,072 (GRCm39) |
F2L |
probably benign |
Het |
| Jak2 |
C |
A |
19: 29,262,326 (GRCm39) |
Y382* |
probably null |
Het |
| Kat8 |
C |
T |
7: 127,524,396 (GRCm39) |
H425Y |
probably benign |
Het |
| Kcnj3 |
T |
C |
2: 55,327,235 (GRCm39) |
F8S |
possibly damaging |
Het |
| Klk1 |
T |
A |
7: 43,870,922 (GRCm39) |
|
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,095,977 (GRCm39) |
Y205C |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,078,237 (GRCm39) |
E26G |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
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 |
| Nphp3 |
T |
C |
9: 103,909,132 (GRCm39) |
S781P |
probably benign |
Het |
| Nqo2 |
A |
T |
13: 34,163,560 (GRCm39) |
H73L |
probably benign |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Pah |
G |
A |
10: 87,412,080 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
T |
G |
18: 37,442,938 (GRCm39) |
Y749* |
probably null |
Het |
| Pdgfrb |
C |
A |
18: 61,213,399 (GRCm39) |
N914K |
probably damaging |
Het |
| Ralyl |
A |
G |
3: 14,011,566 (GRCm39) |
Y4C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,559,503 (GRCm39) |
I1052N |
probably damaging |
Het |
| Sdk2 |
G |
A |
11: 113,712,241 (GRCm39) |
T1642I |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,926,942 (GRCm39) |
T207M |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,564,827 (GRCm39) |
L148P |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Tdp1 |
G |
A |
12: 99,901,326 (GRCm39) |
R536H |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,599 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Zfp1002 |
A |
T |
2: 150,097,398 (GRCm39) |
S38R |
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 |
|
|
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 |
|
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'- AGGCATATTTATGcaggcatgttatcagaa -3'
(R):5'- GTCAGTGGTCCACAGAAATCACACAA -3'
Sequencing Primer
(F):5'- aagatggttttcagtgaagcag -3'
(R):5'- TAAGCATCATGGCCTGGAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation