Incidental Mutation 'R4292:Vmn1r192'
| ID |
323133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r192
|
| Ensembl Gene |
ENSMUSG00000099787 |
| Gene Name |
vomeronasal 1 receptor 192 |
| Synonyms |
V1ri1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4292 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
22371316-22372218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22371465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 252
(I252F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072632]
|
| AlphaFold |
Q8K4C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072632
AA Change: I252F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072426
Gene: ENSMUSG00000099787
AA Change: I252F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
293 |
2.6e-10 |
PFAM |
|
Pfam:V1R
|
37 |
299 |
1.1e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,772,977 (GRCm39) |
K1232E |
possibly damaging |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,079 (GRCm39) |
V311D |
probably damaging |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,714,207 (GRCm39) |
A116T |
possibly damaging |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
| Kif18a |
A |
T |
2: 109,128,471 (GRCm39) |
I376L |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,085,723 (GRCm39) |
K1855R |
possibly damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or5b98 |
G |
A |
19: 12,931,520 (GRCm39) |
C189Y |
possibly damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,097,834 (GRCm39) |
Y26C |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,508 (GRCm39) |
T41A |
probably damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,861,344 (GRCm39) |
|
probably null |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Slco4c1 |
C |
G |
1: 96,772,381 (GRCm39) |
|
probably null |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Tgfb2 |
T |
C |
1: 186,364,735 (GRCm39) |
H253R |
probably damaging |
Het |
| Top3b |
A |
T |
16: 16,701,383 (GRCm39) |
I232F |
probably damaging |
Het |
| Trim24 |
G |
A |
6: 37,877,627 (GRCm39) |
R39H |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,320 (GRCm39) |
M851K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,762,855 (GRCm39) |
V3268A |
possibly damaging |
Het |
| Unc79 |
A |
T |
12: 103,149,703 (GRCm39) |
Q2599L |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
|
| Other mutations in Vmn1r192 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Vmn1r192
|
APN |
13 |
22,372,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01869:Vmn1r192
|
APN |
13 |
22,371,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Vmn1r192
|
UTSW |
13 |
22,371,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Vmn1r192
|
UTSW |
13 |
22,371,441 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1767:Vmn1r192
|
UTSW |
13 |
22,371,441 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1880:Vmn1r192
|
UTSW |
13 |
22,371,764 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1881:Vmn1r192
|
UTSW |
13 |
22,371,764 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2113:Vmn1r192
|
UTSW |
13 |
22,371,800 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4290:Vmn1r192
|
UTSW |
13 |
22,371,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4294:Vmn1r192
|
UTSW |
13 |
22,371,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4295:Vmn1r192
|
UTSW |
13 |
22,371,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Vmn1r192
|
UTSW |
13 |
22,371,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Vmn1r192
|
UTSW |
13 |
22,371,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5569:Vmn1r192
|
UTSW |
13 |
22,371,384 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6181:Vmn1r192
|
UTSW |
13 |
22,371,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Vmn1r192
|
UTSW |
13 |
22,372,000 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6860:Vmn1r192
|
UTSW |
13 |
22,372,122 (GRCm39) |
missense |
probably benign |
|
|
R7246:Vmn1r192
|
UTSW |
13 |
22,371,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Vmn1r192
|
UTSW |
13 |
22,371,845 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8066:Vmn1r192
|
UTSW |
13 |
22,371,565 (GRCm39) |
nonsense |
probably null |
|
|
R8378:Vmn1r192
|
UTSW |
13 |
22,372,029 (GRCm39) |
nonsense |
probably null |
|
|
R9075:Vmn1r192
|
UTSW |
13 |
22,371,333 (GRCm39) |
missense |
probably benign |
|
|
R9206:Vmn1r192
|
UTSW |
13 |
22,371,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Vmn1r192
|
UTSW |
13 |
22,371,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Vmn1r192
|
UTSW |
13 |
22,372,191 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9367:Vmn1r192
|
UTSW |
13 |
22,371,800 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9694:Vmn1r192
|
UTSW |
13 |
22,372,119 (GRCm39) |
missense |
probably benign |
|
|
R9760:Vmn1r192
|
UTSW |
13 |
22,372,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCATAGCAAACATTATGTCCC -3'
(R):5'- CTTTCAGAGTCTCATGGGCTG -3'
Sequencing Primer
(F):5'- TGCATACACCTTTAGCTCATAGAG -3'
(R):5'- AGTCTCATGGGCTGGAGCAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation