Incidental Mutation 'IGL01072:Vmn1r214'
| ID |
52533 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r214
|
| Ensembl Gene |
ENSMUSG00000061829 |
| Gene Name |
vomeronasal 1 receptor 214 |
| Synonyms |
V1rh5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL01072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23218508-23219611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23219300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 265
(Y265H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074252]
[ENSMUST00000227236]
[ENSMUST00000227652]
|
| AlphaFold |
Q8R279 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074252
AA Change: Y265H
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073868
Gene: ENSMUSG00000061829
AA Change: Y265H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Pfam:TAS2R
|
42 |
346 |
7.5e-9 |
PFAM |
|
Pfam:V1R
|
75 |
337 |
5.3e-32 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227236
AA Change: Y265H
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227652
AA Change: Y265H
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc65 |
A |
T |
15: 98,606,277 (GRCm39) |
M1L |
unknown |
Het |
| Cyp3a44 |
T |
C |
5: 145,728,438 (GRCm39) |
D262G |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,687,098 (GRCm39) |
|
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,888,605 (GRCm39) |
N169S |
probably benign |
Het |
| Fbxw26 |
A |
T |
9: 109,552,905 (GRCm39) |
F290I |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,467,226 (GRCm39) |
M190V |
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,894,519 (GRCm39) |
|
noncoding transcript |
Het |
| Ly75 |
T |
A |
2: 60,184,840 (GRCm39) |
D438V |
probably damaging |
Het |
| Lzts3 |
T |
C |
2: 130,477,365 (GRCm39) |
E475G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,846,444 (GRCm39) |
Y1375* |
probably null |
Het |
| Ndufc2 |
T |
A |
7: 97,049,490 (GRCm39) |
V32D |
probably damaging |
Het |
| Nf2 |
A |
C |
11: 4,739,713 (GRCm39) |
L431R |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,802,427 (GRCm39) |
|
probably benign |
Het |
| Ptpn9 |
C |
T |
9: 56,943,987 (GRCm39) |
T287I |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,819,043 (GRCm39) |
D1422G |
probably damaging |
Het |
| Rpp40 |
C |
A |
13: 36,086,017 (GRCm39) |
G115C |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,157 (GRCm39) |
V522A |
probably benign |
Het |
| Scgb1b24 |
A |
T |
7: 33,443,434 (GRCm39) |
D31V |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,721,065 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn1r214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01759:Vmn1r214
|
APN |
13 |
23,218,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02000:Vmn1r214
|
APN |
13 |
23,219,270 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0115:Vmn1r214
|
UTSW |
13 |
23,219,464 (GRCm39) |
nonsense |
probably null |
|
|
R0468:Vmn1r214
|
UTSW |
13 |
23,219,423 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0481:Vmn1r214
|
UTSW |
13 |
23,219,464 (GRCm39) |
nonsense |
probably null |
|
|
R0574:Vmn1r214
|
UTSW |
13 |
23,218,663 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0686:Vmn1r214
|
UTSW |
13 |
23,218,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Vmn1r214
|
UTSW |
13 |
23,219,494 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3893:Vmn1r214
|
UTSW |
13 |
23,218,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4013:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4014:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4015:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4670:Vmn1r214
|
UTSW |
13 |
23,219,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5091:Vmn1r214
|
UTSW |
13 |
23,219,571 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5817:Vmn1r214
|
UTSW |
13 |
23,219,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6504:Vmn1r214
|
UTSW |
13 |
23,219,610 (GRCm39) |
makesense |
probably null |
|
|
R7096:Vmn1r214
|
UTSW |
13 |
23,219,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Vmn1r214
|
UTSW |
13 |
23,218,839 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7293:Vmn1r214
|
UTSW |
13 |
23,218,839 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7759:Vmn1r214
|
UTSW |
13 |
23,218,631 (GRCm39) |
missense |
not run |
|
|
R8805:Vmn1r214
|
UTSW |
13 |
23,219,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8810:Vmn1r214
|
UTSW |
13 |
23,219,082 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9383:Vmn1r214
|
UTSW |
13 |
23,219,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9660:Vmn1r214
|
UTSW |
13 |
23,219,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9711:Vmn1r214
|
UTSW |
13 |
23,218,508 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R9728:Vmn1r214
|
UTSW |
13 |
23,219,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0002:Vmn1r214
|
UTSW |
13 |
23,218,971 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Vmn1r214
|
UTSW |
13 |
23,218,665 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2013-06-21 |
Incidental Mutation