Incidental Mutation 'R0890:Vmn1r38'
| ID |
83464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r38
|
| Ensembl Gene |
ENSMUSG00000115170 |
| Gene Name |
vomeronasal 1 receptor 38 |
| Synonyms |
V1rc13 |
| MMRRC Submission |
039053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R0890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
66753206-66754114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 66753514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 201
(I201L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176121]
[ENSMUST00000226457]
[ENSMUST00000227493]
[ENSMUST00000227694]
|
| AlphaFold |
Q8R2E1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176121
AA Change: I201L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000135117
Gene: ENSMUSG00000093632
AA Change: I201L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.7e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226457
AA Change: I201L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227493
AA Change: I201L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227694
AA Change: I201L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
| Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
| Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
| Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
| Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
| Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
| Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
| Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
| Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
| Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
| Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
| Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
| Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
| Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
| Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
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 |
|
R1242:Vmn1r38
|
UTSW |
6 |
66,753,344 (GRCm39) |
nonsense |
probably null |
|
|
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'- AACTTCTGAACAGTAAGCATGACTGGG -3'
(R):5'- TATCAGCATCACCTGCCTCCTGAG -3'
Sequencing Primer
(F):5'- AGCATGACTGGGTCATACATC -3'
(R):5'- TTCCAGGCTGTGACGATCAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation