Incidental Mutation 'R1182:Vmn1r232'
| ID |
101662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r232
|
| Ensembl Gene |
ENSMUSG00000062165 |
| Gene Name |
vomeronasal 1 receptor 232 |
| Synonyms |
V1re4 |
| MMRRC Submission |
039254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1182 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21133467-21134625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21133705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 298
(L298F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077001]
|
| AlphaFold |
A2RTT5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077001
AA Change: L298F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000076261
Gene: ENSMUSG00000062165
AA Change: L298F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
46 |
331 |
6.9e-7 |
PFAM |
|
Pfam:7tm_1
|
70 |
324 |
1e-6 |
PFAM |
|
Pfam:V1R
|
78 |
338 |
1.9e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232004
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
A |
8: 84,656,451 (GRCm39) |
D256E |
probably damaging |
Het |
| Adnp |
G |
A |
2: 168,026,716 (GRCm39) |
A193V |
possibly damaging |
Het |
| Atf7ip2 |
T |
C |
16: 10,059,699 (GRCm39) |
L413S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,928 (GRCm39) |
N252S |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,449,811 (GRCm39) |
N904K |
probably damaging |
Het |
| Draxin |
T |
C |
4: 148,192,394 (GRCm39) |
E306G |
probably damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,132,680 (GRCm39) |
F9L |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,743,416 (GRCm39) |
C371S |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,933,409 (GRCm39) |
I506F |
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or52e8b |
T |
C |
7: 104,673,285 (GRCm39) |
T301A |
probably damaging |
Het |
| Or8k20 |
T |
C |
2: 86,106,612 (GRCm39) |
N73S |
probably damaging |
Het |
| Plekhg6 |
C |
G |
6: 125,349,455 (GRCm39) |
E381Q |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,413 (GRCm39) |
I1322V |
possibly damaging |
Het |
| Psmc3 |
T |
C |
2: 90,886,380 (GRCm39) |
I179T |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,810,185 (GRCm39) |
D295G |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,171 (GRCm39) |
V88A |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Zfp629 |
C |
A |
7: 127,209,274 (GRCm39) |
C845F |
probably damaging |
Het |
|
| Other mutations in Vmn1r232 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Vmn1r232
|
APN |
17 |
21,134,394 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02576:Vmn1r232
|
APN |
17 |
21,134,175 (GRCm39) |
missense |
probably benign |
0.30 |
|
H8562:Vmn1r232
|
UTSW |
17 |
21,133,656 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2010:Vmn1r232
|
UTSW |
17 |
21,133,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2088:Vmn1r232
|
UTSW |
17 |
21,133,999 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2206:Vmn1r232
|
UTSW |
17 |
21,134,465 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2207:Vmn1r232
|
UTSW |
17 |
21,134,465 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2273:Vmn1r232
|
UTSW |
17 |
21,134,465 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2274:Vmn1r232
|
UTSW |
17 |
21,134,465 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2275:Vmn1r232
|
UTSW |
17 |
21,134,465 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2443:Vmn1r232
|
UTSW |
17 |
21,133,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Vmn1r232
|
UTSW |
17 |
21,134,288 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3700:Vmn1r232
|
UTSW |
17 |
21,134,465 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5256:Vmn1r232
|
UTSW |
17 |
21,133,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Vmn1r232
|
UTSW |
17 |
21,134,378 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5726:Vmn1r232
|
UTSW |
17 |
21,133,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5833:Vmn1r232
|
UTSW |
17 |
21,133,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Vmn1r232
|
UTSW |
17 |
21,134,309 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7019:Vmn1r232
|
UTSW |
17 |
21,133,547 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7600:Vmn1r232
|
UTSW |
17 |
21,133,999 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8377:Vmn1r232
|
UTSW |
17 |
21,134,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8695:Vmn1r232
|
UTSW |
17 |
21,134,109 (GRCm39) |
missense |
probably benign |
|
|
R9000:Vmn1r232
|
UTSW |
17 |
21,134,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Vmn1r232
|
UTSW |
17 |
21,134,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn1r232
|
UTSW |
17 |
21,134,100 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACCAGTGACCCAAGTGATCTC -3'
(R):5'- CTGAATTCTGCCATTCTCTAGGCCG -3'
Sequencing Primer
(F):5'- CACGACTCATCACAAATGGC -3'
(R):5'- CTCTAGGCCGTGACAAAATAGTTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation