Incidental Mutation 'R2319:Vmn1r2'
| ID |
245577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r2
|
| Ensembl Gene |
ENSMUSG00000115072 |
| Gene Name |
vomeronasal 1 receptor 2 |
| Synonyms |
Gm11776 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
R2319 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
3172083-3173003 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 3172083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105160]
[ENSMUST00000226198]
|
| AlphaFold |
A2AMT6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105160
AA Change: M1V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000100791
Gene: ENSMUSG00000115072
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
7 |
302 |
2.7e-8 |
PFAM |
|
Pfam:V1R
|
30 |
298 |
6.3e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226198
AA Change: M1V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,897,505 (GRCm39) |
H273Q |
probably damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,785,999 (GRCm39) |
S679P |
possibly damaging |
Het |
| Chac2 |
T |
A |
11: 30,936,252 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,417 (GRCm39) |
T532A |
unknown |
Het |
| Dsg1c |
A |
T |
18: 20,408,235 (GRCm39) |
Y428F |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Gm7489 |
A |
T |
15: 53,748,445 (GRCm39) |
|
probably benign |
Het |
| Gnat3 |
T |
G |
5: 18,224,624 (GRCm39) |
D341E |
probably benign |
Het |
| Lrpprc |
G |
A |
17: 85,033,818 (GRCm39) |
P1020S |
probably benign |
Het |
| Niban3 |
T |
C |
8: 72,055,408 (GRCm39) |
F273L |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,319 (GRCm39) |
S309G |
probably benign |
Het |
| Pik3cg |
T |
C |
12: 32,226,735 (GRCm39) |
I1051V |
probably damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Rmnd1 |
A |
G |
10: 4,372,099 (GRCm39) |
V200A |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,799,479 (GRCm39) |
N1076S |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,657,154 (GRCm39) |
D436G |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,006,222 (GRCm39) |
|
probably null |
Het |
| Srsf3 |
G |
A |
17: 29,257,520 (GRCm39) |
R88Q |
unknown |
Het |
| Stxbp2 |
T |
C |
8: 3,683,834 (GRCm39) |
I90T |
possibly damaging |
Het |
| Tnr |
T |
A |
1: 159,677,618 (GRCm39) |
M1K |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,491,200 (GRCm39) |
S119L |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn1r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00328:Vmn1r2
|
APN |
4 |
3,172,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4151001:Vmn1r2
|
UTSW |
4 |
3,172,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4354001:Vmn1r2
|
UTSW |
4 |
3,172,162 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1836:Vmn1r2
|
UTSW |
4 |
3,172,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Vmn1r2
|
UTSW |
4 |
3,172,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3414:Vmn1r2
|
UTSW |
4 |
3,172,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Vmn1r2
|
UTSW |
4 |
3,172,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Vmn1r2
|
UTSW |
4 |
3,172,261 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7084:Vmn1r2
|
UTSW |
4 |
3,172,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7661:Vmn1r2
|
UTSW |
4 |
3,172,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9134:Vmn1r2
|
UTSW |
4 |
3,172,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Vmn1r2
|
UTSW |
4 |
3,172,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9614:Vmn1r2
|
UTSW |
4 |
3,172,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGCATAGACAAGGGTAC -3'
(R):5'- TGGCGAAAGTCAAGTGCTC -3'
Sequencing Primer
(F):5'- GATGCCTACCACCACGTCAGAG -3'
(R):5'- GGCGAAAGTCAAGTGCTCTATAATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation