Incidental Mutation 'R2309:Vmn1r230'
| ID |
244717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r230
|
| Ensembl Gene |
ENSMUSG00000045417 |
| Gene Name |
vomeronasal 1 receptor 230 |
| Synonyms |
V1re8 |
| MMRRC Submission |
040308-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2309 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21066813-21067763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21067492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 227
(H227R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053974]
|
| AlphaFold |
Q8R2A2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053974
AA Change: H227R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061330
Gene: ENSMUSG00000045417
AA Change: H227R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
20 |
315 |
2.4e-12 |
PFAM |
|
Pfam:V1R
|
50 |
312 |
7.9e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
T |
6: 86,073,783 (GRCm39) |
C224F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,757,818 (GRCm39) |
I837M |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,718 (GRCm39) |
Y196C |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,447 (GRCm39) |
N114S |
probably benign |
Het |
| Cldn24 |
T |
G |
8: 48,275,774 (GRCm39) |
Y199* |
probably null |
Het |
| Il1rl1 |
A |
G |
1: 40,481,817 (GRCm39) |
D175G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,285,067 (GRCm39) |
D1012E |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,746,586 (GRCm39) |
D35E |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,455,638 (GRCm39) |
D2512G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,064,461 (GRCm39) |
D246V |
probably damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,077,512 (GRCm39) |
V757F |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,298 (GRCm39) |
F170S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,278,460 (GRCm39) |
|
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,118,445 (GRCm39) |
I109V |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,743,439 (GRCm39) |
K1335R |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,438 (GRCm39) |
Y104H |
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,166,997 (GRCm39) |
S87P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,048,916 (GRCm39) |
V1981M |
probably damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,986 (GRCm39) |
F330L |
probably damaging |
Het |
| Slc6a6 |
G |
C |
6: 91,703,177 (GRCm39) |
W183C |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,826,065 (GRCm39) |
K81E |
probably damaging |
Het |
| Ulbp1 |
G |
A |
10: 7,397,388 (GRCm39) |
T239I |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,096,283 (GRCm39) |
F1029I |
probably benign |
Het |
|
| Other mutations in Vmn1r230 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02590:Vmn1r230
|
APN |
17 |
21,067,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03004:Vmn1r230
|
APN |
17 |
21,067,772 (GRCm39) |
unclassified |
probably benign |
|
|
R0306:Vmn1r230
|
UTSW |
17 |
21,066,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0318:Vmn1r230
|
UTSW |
17 |
21,067,078 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2076:Vmn1r230
|
UTSW |
17 |
21,067,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2151:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2153:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2154:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2192:Vmn1r230
|
UTSW |
17 |
21,067,355 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2215:Vmn1r230
|
UTSW |
17 |
21,067,684 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4493:Vmn1r230
|
UTSW |
17 |
21,066,863 (GRCm39) |
missense |
probably benign |
|
|
R4683:Vmn1r230
|
UTSW |
17 |
21,067,515 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4804:Vmn1r230
|
UTSW |
17 |
21,067,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4949:Vmn1r230
|
UTSW |
17 |
21,067,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5138:Vmn1r230
|
UTSW |
17 |
21,067,230 (GRCm39) |
nonsense |
probably null |
|
|
R6248:Vmn1r230
|
UTSW |
17 |
21,067,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7329:Vmn1r230
|
UTSW |
17 |
21,066,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Vmn1r230
|
UTSW |
17 |
21,067,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Vmn1r230
|
UTSW |
17 |
21,067,144 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7817:Vmn1r230
|
UTSW |
17 |
21,066,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7832:Vmn1r230
|
UTSW |
17 |
21,066,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7977:Vmn1r230
|
UTSW |
17 |
21,067,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7986:Vmn1r230
|
UTSW |
17 |
21,067,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Vmn1r230
|
UTSW |
17 |
21,067,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7993:Vmn1r230
|
UTSW |
17 |
21,067,312 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8439:Vmn1r230
|
UTSW |
17 |
21,066,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8971:Vmn1r230
|
UTSW |
17 |
21,067,321 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9576:Vmn1r230
|
UTSW |
17 |
21,067,163 (GRCm39) |
nonsense |
probably null |
|
|
R9578:Vmn1r230
|
UTSW |
17 |
21,067,163 (GRCm39) |
nonsense |
probably null |
|
|
R9687:Vmn1r230
|
UTSW |
17 |
21,067,604 (GRCm39) |
nonsense |
probably null |
|
|
U24488:Vmn1r230
|
UTSW |
17 |
21,067,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Vmn1r230
|
UTSW |
17 |
21,067,214 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAAGAAACTCCTGTTGGAAG -3'
(R):5'- TTGCGAAAGTCATTAGCCACC -3'
Sequencing Primer
(F):5'- GTACATGTCCATAACATTTACTGGG -3'
(R):5'- GCGAAAGTCATTAGCCACCAATTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation