Incidental Mutation 'R1242:Vmn1r38'
| ID |
152039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r38
|
| Ensembl Gene |
ENSMUSG00000115170 |
| Gene Name |
vomeronasal 1 receptor 38 |
| Synonyms |
V1rc13 |
| MMRRC Submission |
039309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R1242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
66753206-66754114 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 66753344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 257
(Y257*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176121]
[ENSMUST00000226457]
[ENSMUST00000227493]
[ENSMUST00000227694]
|
| AlphaFold |
Q8R2E1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000176121
AA Change: Y257*
|
| SMART Domains |
Protein: ENSMUSP00000135117
Gene: ENSMUSG00000093632
AA Change: Y257*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.7e-53 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226457
AA Change: Y257*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227493
AA Change: Y257*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227694
AA Change: Y257*
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs7 |
A |
G |
3: 36,632,576 (GRCm39) |
F549L |
probably damaging |
Het |
| Cmc2 |
T |
C |
8: 117,637,937 (GRCm39) |
D4G |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,294 (GRCm39) |
L124Q |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,981,513 (GRCm39) |
|
probably null |
Het |
| Defb30 |
A |
T |
14: 63,273,455 (GRCm39) |
Y53N |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,782,627 (GRCm39) |
Y363* |
probably null |
Het |
| Fam170a |
A |
G |
18: 50,415,206 (GRCm39) |
E284G |
probably damaging |
Het |
| Gm16505 |
T |
A |
13: 3,411,109 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2h1 |
T |
C |
7: 46,462,175 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
C |
T |
3: 82,013,260 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,022,767 (GRCm39) |
N945I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,955,416 (GRCm39) |
T327I |
probably benign |
Het |
| Il3 |
T |
C |
11: 54,157,929 (GRCm39) |
I50V |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,869,230 (GRCm39) |
K591R |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,867,782 (GRCm39) |
T83I |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,003,728 (GRCm39) |
V275E |
possibly damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,185 (GRCm39) |
I1976F |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,125,575 (GRCm39) |
D313V |
probably damaging |
Het |
| Tent5c |
A |
T |
3: 100,380,192 (GRCm39) |
L188Q |
probably damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,402,650 (GRCm39) |
P295L |
probably damaging |
Het |
| Xkr4 |
T |
A |
1: 3,286,360 (GRCm39) |
D610V |
probably damaging |
Het |
|
| Other mutations in Vmn1r38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01892:Vmn1r38
|
APN |
6 |
66,753,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02471:Vmn1r38
|
APN |
6 |
66,753,751 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0483:Vmn1r38
|
UTSW |
6 |
66,753,979 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0890:Vmn1r38
|
UTSW |
6 |
66,753,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1557:Vmn1r38
|
UTSW |
6 |
66,753,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2266:Vmn1r38
|
UTSW |
6 |
66,753,433 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2320:Vmn1r38
|
UTSW |
6 |
66,753,534 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2568:Vmn1r38
|
UTSW |
6 |
66,753,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3104:Vmn1r38
|
UTSW |
6 |
66,753,430 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3552:Vmn1r38
|
UTSW |
6 |
66,753,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3792:Vmn1r38
|
UTSW |
6 |
66,753,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4061:Vmn1r38
|
UTSW |
6 |
66,753,832 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4532:Vmn1r38
|
UTSW |
6 |
66,754,016 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5299:Vmn1r38
|
UTSW |
6 |
66,753,682 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7173:Vmn1r38
|
UTSW |
6 |
66,753,278 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8044:Vmn1r38
|
UTSW |
6 |
66,753,516 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8935:Vmn1r38
|
UTSW |
6 |
66,753,979 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9144:Vmn1r38
|
UTSW |
6 |
66,753,612 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0022:Vmn1r38
|
UTSW |
6 |
66,754,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCGGAGGCAGGgggataaaa -3'
(R):5'- GCAATGCAAGCATCTTCATAGCGAC -3'
Sequencing Primer
(F):5'- gacagtaagcatctccccc -3'
(R):5'- TTCATAGCGACAGCCACTTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation