Incidental Mutation 'R6561:Vmn1r78'
| ID |
523135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r78
|
| Ensembl Gene |
ENSMUSG00000061602 |
| Gene Name |
vomeronasal 1 receptor 78 |
| Synonyms |
V1rg7 |
| MMRRC Submission |
044685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6561 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
11886391-11887332 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11886826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 146
(I146F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078039]
[ENSMUST00000228244]
[ENSMUST00000228664]
|
| AlphaFold |
K7N608 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078039
AA Change: I146F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077186
Gene: ENSMUSG00000061602
AA Change: I146F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
3 |
304 |
5.7e-8 |
PFAM |
|
Pfam:V1R
|
12 |
301 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209489
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228244
AA Change: I146F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228664
AA Change: I146F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,977,825 (GRCm39) |
I468F |
probably benign |
Het |
| Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,505,919 (GRCm39) |
V639A |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,492,680 (GRCm39) |
Y233C |
probably damaging |
Het |
| Dchs2 |
G |
T |
3: 83,036,476 (GRCm39) |
V408F |
probably benign |
Het |
| Dnmt3c |
T |
A |
2: 153,561,950 (GRCm39) |
L551Q |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,578,365 (GRCm39) |
F746S |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,732,149 (GRCm39) |
R157C |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,344 (GRCm39) |
S58T |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,135,504 (GRCm39) |
V1809A |
probably damaging |
Het |
| Kif22 |
T |
A |
7: 126,630,225 (GRCm39) |
N437I |
probably benign |
Het |
| Klri1 |
A |
G |
6: 129,693,964 (GRCm39) |
V41A |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,646 (GRCm39) |
D125E |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,828,448 (GRCm38) |
N90I |
possibly damaging |
Het |
| Nostrin |
G |
A |
2: 69,011,201 (GRCm39) |
A331T |
probably benign |
Het |
| Or4k2 |
T |
C |
14: 50,423,775 (GRCm39) |
K300E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,394 (GRCm39) |
Y260C |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,073 (GRCm39) |
T265A |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,333,960 (GRCm39) |
V223A |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Skic3 |
T |
A |
13: 76,298,638 (GRCm39) |
S1115T |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,765,300 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,314,496 (GRCm39) |
I772T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,797,954 (GRCm39) |
N1927S |
probably benign |
Het |
| Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
| Trbv15 |
A |
T |
6: 41,118,414 (GRCm39) |
T57S |
probably benign |
Het |
| Vmn2r39 |
T |
A |
7: 9,018,092 (GRCm39) |
Y748F |
probably damaging |
Het |
| Zfp493 |
T |
A |
13: 67,934,338 (GRCm39) |
V65D |
possibly damaging |
Het |
|
| Other mutations in Vmn1r78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01129:Vmn1r78
|
APN |
7 |
11,887,165 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02019:Vmn1r78
|
APN |
7 |
11,886,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02143:Vmn1r78
|
APN |
7 |
11,886,407 (GRCm39) |
missense |
probably benign |
|
|
IGL02154:Vmn1r78
|
APN |
7 |
11,886,472 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02290:Vmn1r78
|
APN |
7 |
11,887,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Vmn1r78
|
APN |
7 |
11,887,291 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03256:Vmn1r78
|
APN |
7 |
11,886,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03373:Vmn1r78
|
APN |
7 |
11,887,270 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03384:Vmn1r78
|
APN |
7 |
11,887,136 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0016:Vmn1r78
|
UTSW |
7 |
11,887,279 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1445:Vmn1r78
|
UTSW |
7 |
11,886,508 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1748:Vmn1r78
|
UTSW |
7 |
11,887,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Vmn1r78
|
UTSW |
7 |
11,887,270 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2032:Vmn1r78
|
UTSW |
7 |
11,887,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2198:Vmn1r78
|
UTSW |
7 |
11,886,487 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4330:Vmn1r78
|
UTSW |
7 |
11,886,386 (GRCm39) |
splice site |
probably null |
|
|
R4564:Vmn1r78
|
UTSW |
7 |
11,886,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Vmn1r78
|
UTSW |
7 |
11,886,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Vmn1r78
|
UTSW |
7 |
11,886,891 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Vmn1r78
|
UTSW |
7 |
11,886,891 (GRCm39) |
nonsense |
probably null |
|
|
R4860:Vmn1r78
|
UTSW |
7 |
11,886,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Vmn1r78
|
UTSW |
7 |
11,886,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5648:Vmn1r78
|
UTSW |
7 |
11,886,693 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6869:Vmn1r78
|
UTSW |
7 |
11,886,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6945:Vmn1r78
|
UTSW |
7 |
11,886,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7793:Vmn1r78
|
UTSW |
7 |
11,887,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7954:Vmn1r78
|
UTSW |
7 |
11,887,227 (GRCm39) |
nonsense |
probably null |
|
|
R8698:Vmn1r78
|
UTSW |
7 |
11,886,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8830:Vmn1r78
|
UTSW |
7 |
11,887,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9624:Vmn1r78
|
UTSW |
7 |
11,886,410 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Vmn1r78
|
UTSW |
7 |
11,886,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGACACTGTCAGATTTGG -3'
(R):5'- ACTTGAGCAGGCCATGAGAC -3'
Sequencing Primer
(F):5'- CCTGGATGATATTGGTTGTAAATTGG -3'
(R):5'- AGGCCATGAGACCCAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation