Incidental Mutation 'PIT4494001:Vmn1r8'
| ID |
556149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r8
|
| Ensembl Gene |
ENSMUSG00000061208 |
| Gene Name |
vomeronasal 1 receptor 8 |
| Synonyms |
V1rc32 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57012898-57014110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57013712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 254
(I254M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078186]
[ENSMUST00000227706]
[ENSMUST00000228690]
|
| AlphaFold |
Q8R2C2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078186
AA Change: I254M
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000093561
Gene: ENSMUSG00000061208
AA Change: I254M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
1.2e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227706
AA Change: I254M
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228690
AA Change: I254M
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
probably damaging |
Het |
|
| Other mutations in Vmn1r8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01569:Vmn1r8
|
APN |
6 |
57,013,272 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01820:Vmn1r8
|
APN |
6 |
57,013,653 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02416:Vmn1r8
|
APN |
6 |
57,013,605 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02496:Vmn1r8
|
APN |
6 |
57,013,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Vmn1r8
|
APN |
6 |
57,013,579 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02954:Vmn1r8
|
APN |
6 |
57,013,315 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03235:Vmn1r8
|
APN |
6 |
57,013,746 (GRCm39) |
nonsense |
probably null |
|
|
IGL03353:Vmn1r8
|
APN |
6 |
57,013,776 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0656:Vmn1r8
|
UTSW |
6 |
57,013,573 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1328:Vmn1r8
|
UTSW |
6 |
57,013,278 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1846:Vmn1r8
|
UTSW |
6 |
57,013,413 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2083:Vmn1r8
|
UTSW |
6 |
57,013,325 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3683:Vmn1r8
|
UTSW |
6 |
57,013,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Vmn1r8
|
UTSW |
6 |
57,013,705 (GRCm39) |
missense |
probably benign |
|
|
R4754:Vmn1r8
|
UTSW |
6 |
57,012,952 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4857:Vmn1r8
|
UTSW |
6 |
57,013,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5787:Vmn1r8
|
UTSW |
6 |
57,013,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Vmn1r8
|
UTSW |
6 |
57,013,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6711:Vmn1r8
|
UTSW |
6 |
57,013,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Vmn1r8
|
UTSW |
6 |
57,013,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Vmn1r8
|
UTSW |
6 |
57,013,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8261:Vmn1r8
|
UTSW |
6 |
57,013,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8526:Vmn1r8
|
UTSW |
6 |
57,013,362 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8552:Vmn1r8
|
UTSW |
6 |
57,013,138 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8692:Vmn1r8
|
UTSW |
6 |
57,013,557 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8712:Vmn1r8
|
UTSW |
6 |
57,013,665 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9306:Vmn1r8
|
UTSW |
6 |
57,013,713 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCCAGAGATGTGTTTCTGGTAG -3'
(R):5'- AGCACACACTGGTAATGAACG -3'
Sequencing Primer
(F):5'- CATGCTGACTACAAGTGTATACATGG -3'
(R):5'- CAAATGGTGCTTTGACTGA -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation