Incidental Mutation 'R0920:Vmn1r58'
ID |
82816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r58
|
Ensembl Gene |
ENSMUSG00000078808 |
Gene Name |
vomeronasal 1 receptor 58 |
Synonyms |
V3R4, V1rd4 |
MMRRC Submission |
039070-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R0920 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
5411886-5416144 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5413788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 147
(N147K)
|
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: N147K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000104209 Gene: ENSMUSG00000078808 AA Change: N147K
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: N147K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
C |
4: 144,287,696 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,911,680 (GRCm39) |
|
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,118,503 (GRCm39) |
V1015A |
probably benign |
Het |
Armc5 |
G |
T |
7: 127,839,491 (GRCm39) |
A270S |
probably damaging |
Het |
Cacng1 |
A |
C |
11: 107,596,682 (GRCm39) |
|
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,940,955 (GRCm39) |
D429G |
probably damaging |
Het |
Ccdc88b |
G |
T |
19: 6,824,017 (GRCm39) |
A1412E |
probably benign |
Het |
Cfap298 |
C |
T |
16: 90,724,267 (GRCm39) |
E125K |
probably damaging |
Het |
Clock |
A |
T |
5: 76,378,167 (GRCm39) |
S578T |
possibly damaging |
Het |
Crp |
T |
C |
1: 172,526,089 (GRCm39) |
F58S |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,226,465 (GRCm39) |
Q125L |
probably damaging |
Het |
Eif3i |
T |
C |
4: 129,489,050 (GRCm39) |
|
probably benign |
Het |
Gucy1a2 |
A |
C |
9: 3,759,472 (GRCm39) |
D426A |
probably damaging |
Het |
Hpcal1 |
C |
T |
12: 17,841,098 (GRCm39) |
|
probably benign |
Het |
Inf2 |
T |
A |
12: 112,576,721 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,128,256 (GRCm39) |
L525P |
probably damaging |
Het |
Kirrel3 |
A |
T |
9: 34,939,648 (GRCm39) |
I152F |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,900,309 (GRCm39) |
I670K |
probably benign |
Het |
Krt76 |
T |
C |
15: 101,800,874 (GRCm39) |
T141A |
possibly damaging |
Het |
Ldb3 |
T |
C |
14: 34,289,460 (GRCm39) |
T249A |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,941,507 (GRCm39) |
|
probably null |
Het |
Mfn1 |
A |
G |
3: 32,588,385 (GRCm39) |
|
probably null |
Het |
Myb |
G |
T |
10: 21,002,133 (GRCm39) |
T736K |
possibly damaging |
Het |
Myo5b |
A |
C |
18: 74,758,712 (GRCm39) |
K231T |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,936,138 (GRCm39) |
C909S |
unknown |
Het |
Npas4 |
C |
A |
19: 5,036,344 (GRCm39) |
E607* |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,909,106 (GRCm39) |
N772S |
probably benign |
Het |
Nup88 |
G |
T |
11: 70,847,146 (GRCm39) |
P288Q |
possibly damaging |
Het |
Or2l13 |
A |
T |
16: 19,305,680 (GRCm39) |
I31F |
probably benign |
Het |
Pknox1 |
C |
A |
17: 31,815,865 (GRCm39) |
Q240K |
probably damaging |
Het |
Plce1 |
A |
C |
19: 38,724,965 (GRCm39) |
T1439P |
probably damaging |
Het |
Ppp1r42 |
T |
A |
1: 10,069,750 (GRCm39) |
N104I |
probably damaging |
Het |
Prkar2a |
T |
A |
9: 108,596,496 (GRCm39) |
|
probably benign |
Het |
Stox2 |
C |
T |
8: 47,646,053 (GRCm39) |
R469Q |
probably damaging |
Het |
Syna |
A |
G |
5: 134,587,956 (GRCm39) |
V331A |
probably benign |
Het |
Zdhhc6 |
A |
T |
19: 55,300,133 (GRCm39) |
L148H |
probably 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 |
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'- ATGTGACCACCAGCATCAGGATGG -3'
(R):5'- GGAAGCCTCCAACTGACCTCAAATG -3'
Sequencing Primer
(F):5'- CTGCTCTGGTCTCAGCATGG -3'
(R):5'- CTTTCACATGGTGGCACGAG -3'
|
Posted On |
2013-11-08 |