Incidental Mutation 'R3812:Vmn1r170'
| ID |
274102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r170
|
| Ensembl Gene |
ENSMUSG00000094187 |
| Gene Name |
vomeronasal 1 receptor 170 |
| Synonyms |
Gm5999 |
| MMRRC Submission |
040768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3812 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23305600-23306514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23305717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 40
(S40P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170166]
|
| AlphaFold |
K7N6W9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170166
AA Change: S40P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127655
Gene: ENSMUSG00000094187
AA Change: S40P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
296 |
1.8e-13 |
PFAM |
|
Pfam:7tm_1
|
30 |
287 |
3.6e-6 |
PFAM |
|
Pfam:V1R
|
42 |
295 |
1.4e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (28/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,407,469 (GRCm39) |
M1082V |
probably benign |
Het |
| Cyp4a31 |
T |
C |
4: 115,423,706 (GRCm39) |
S137P |
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,151 (GRCm39) |
I45V |
probably benign |
Het |
| Fbxw28 |
C |
A |
9: 109,167,598 (GRCm39) |
C53F |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Lcmt2 |
G |
A |
2: 120,969,187 (GRCm39) |
A632V |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Myo1a |
A |
G |
10: 127,543,284 (GRCm39) |
N180S |
possibly damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,149,118 (GRCm39) |
W242R |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
| Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,735,332 (GRCm39) |
Y151H |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Polm |
A |
G |
11: 5,779,512 (GRCm39) |
F429L |
possibly damaging |
Het |
| Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,216,067 (GRCm39) |
T105A |
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,675,000 (GRCm39) |
C449S |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,414,517 (GRCm39) |
F2820Y |
possibly damaging |
Het |
| Zfp292 |
A |
T |
4: 34,810,326 (GRCm39) |
L906Q |
probably damaging |
Het |
|
| Other mutations in Vmn1r170 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02005:Vmn1r170
|
APN |
7 |
23,306,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02150:Vmn1r170
|
APN |
7 |
23,306,465 (GRCm39) |
nonsense |
probably null |
|
|
IGL02216:Vmn1r170
|
APN |
7 |
23,305,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02749:Vmn1r170
|
APN |
7 |
23,305,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02807:Vmn1r170
|
APN |
7 |
23,305,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Vmn1r170
|
APN |
7 |
23,305,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02971:Vmn1r170
|
APN |
7 |
23,305,759 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03073:Vmn1r170
|
APN |
7 |
23,306,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03151:Vmn1r170
|
APN |
7 |
23,306,002 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0079:Vmn1r170
|
UTSW |
7 |
23,305,735 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0266:Vmn1r170
|
UTSW |
7 |
23,305,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0980:Vmn1r170
|
UTSW |
7 |
23,305,759 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1345:Vmn1r170
|
UTSW |
7 |
23,305,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1620:Vmn1r170
|
UTSW |
7 |
23,305,754 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1713:Vmn1r170
|
UTSW |
7 |
23,306,288 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1745:Vmn1r170
|
UTSW |
7 |
23,305,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1974:Vmn1r170
|
UTSW |
7 |
23,305,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2163:Vmn1r170
|
UTSW |
7 |
23,306,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Vmn1r170
|
UTSW |
7 |
23,306,087 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5309:Vmn1r170
|
UTSW |
7 |
23,305,880 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5378:Vmn1r170
|
UTSW |
7 |
23,305,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5379:Vmn1r170
|
UTSW |
7 |
23,306,054 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5661:Vmn1r170
|
UTSW |
7 |
23,306,231 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5673:Vmn1r170
|
UTSW |
7 |
23,305,630 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6181:Vmn1r170
|
UTSW |
7 |
23,305,692 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6192:Vmn1r170
|
UTSW |
7 |
23,305,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Vmn1r170
|
UTSW |
7 |
23,306,320 (GRCm39) |
missense |
not run |
|
|
R7667:Vmn1r170
|
UTSW |
7 |
23,306,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Vmn1r170
|
UTSW |
7 |
23,306,321 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8699:Vmn1r170
|
UTSW |
7 |
23,306,080 (GRCm39) |
nonsense |
probably null |
|
|
R8927:Vmn1r170
|
UTSW |
7 |
23,305,814 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8928:Vmn1r170
|
UTSW |
7 |
23,305,814 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9269:Vmn1r170
|
UTSW |
7 |
23,306,263 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9569:Vmn1r170
|
UTSW |
7 |
23,306,294 (GRCm39) |
missense |
probably benign |
0.19 |
|
X0060:Vmn1r170
|
UTSW |
7 |
23,306,368 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Z1176:Vmn1r170
|
UTSW |
7 |
23,305,835 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATAAAGTAGAGCTGCCCTTCG -3'
(R):5'- TTCGAGCCACCAGCCAAATG -3'
Sequencing Primer
(F):5'- CCTTCGTGGGGAAAAATGTCTTC -3'
(R):5'- GCCAAATGAAGTACCCAAGTTTAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation