Incidental Mutation 'R2987:Vmn1r36'
| ID |
257819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r36
|
| Ensembl Gene |
ENSMUSG00000115482 |
| Gene Name |
vomeronasal 1 receptor 36 |
| Synonyms |
V1rc11 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R2987 (G1)
|
| Quality Score |
88 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
66692956-66693873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66693700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 21
(H21Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177072]
[ENSMUST00000226142]
[ENSMUST00000226635]
[ENSMUST00000226728]
[ENSMUST00000226829]
|
| AlphaFold |
Q8R2E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177072
AA Change: H58Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000135070
Gene: ENSMUSG00000093764
AA Change: H58Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
4.2e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226142
AA Change: H21Q
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226635
AA Change: H58Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226829
AA Change: H58Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,402,358 (GRCm39) |
I557V |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,364,661 (GRCm39) |
L983* |
probably null |
Het |
| Clcn1 |
A |
G |
6: 42,275,784 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,041,306 (GRCm39) |
C1308S |
probably damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,478,133 (GRCm39) |
D2G |
probably damaging |
Het |
| Exoc6b |
T |
A |
6: 84,828,929 (GRCm39) |
K485I |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,914,585 (GRCm39) |
E611K |
probably benign |
Het |
| Gm5901 |
A |
G |
7: 105,026,507 (GRCm39) |
I92V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,263,763 (GRCm39) |
L753F |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,666,513 (GRCm39) |
S14P |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,025,925 (GRCm39) |
H305R |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,674,258 (GRCm39) |
Y879F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,749,869 (GRCm39) |
|
probably null |
Het |
| Olfml2a |
G |
A |
2: 38,837,306 (GRCm39) |
V150M |
probably damaging |
Het |
| Or51a24 |
A |
G |
7: 103,734,077 (GRCm39) |
V70A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,174,823 (GRCm39) |
D3744E |
possibly damaging |
Het |
| Pla1a |
A |
T |
16: 38,228,104 (GRCm39) |
C258S |
probably damaging |
Het |
| Plk2 |
A |
T |
13: 110,534,243 (GRCm39) |
R274S |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,875,925 (GRCm39) |
L30P |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 122,910,622 (GRCm39) |
H341R |
probably damaging |
Het |
| Trbv12-1 |
G |
A |
6: 41,090,840 (GRCm39) |
E71K |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,509 (GRCm39) |
V268A |
probably damaging |
Het |
|
| Other mutations in Vmn1r36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01384:Vmn1r36
|
APN |
6 |
66,693,446 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0610:Vmn1r36
|
UTSW |
6 |
66,693,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0864:Vmn1r36
|
UTSW |
6 |
66,693,840 (GRCm39) |
missense |
probably null |
|
|
R1754:Vmn1r36
|
UTSW |
6 |
66,693,517 (GRCm39) |
frame shift |
probably null |
|
|
R1813:Vmn1r36
|
UTSW |
6 |
66,693,756 (GRCm39) |
missense |
probably benign |
|
|
R1844:Vmn1r36
|
UTSW |
6 |
66,693,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1896:Vmn1r36
|
UTSW |
6 |
66,693,756 (GRCm39) |
missense |
probably benign |
|
|
R4852:Vmn1r36
|
UTSW |
6 |
66,693,872 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4899:Vmn1r36
|
UTSW |
6 |
66,693,549 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5985:Vmn1r36
|
UTSW |
6 |
66,693,855 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6235:Vmn1r36
|
UTSW |
6 |
66,693,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Vmn1r36
|
UTSW |
6 |
66,693,107 (GRCm39) |
missense |
probably benign |
|
|
R7511:Vmn1r36
|
UTSW |
6 |
66,693,914 (GRCm39) |
start gained |
probably benign |
|
|
R8046:Vmn1r36
|
UTSW |
6 |
66,692,964 (GRCm39) |
nonsense |
probably null |
|
|
R8143:Vmn1r36
|
UTSW |
6 |
66,693,036 (GRCm39) |
nonsense |
probably null |
|
|
R8870:Vmn1r36
|
UTSW |
6 |
66,693,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8871:Vmn1r36
|
UTSW |
6 |
66,693,442 (GRCm39) |
nonsense |
probably null |
|
|
R9194:Vmn1r36
|
UTSW |
6 |
66,693,036 (GRCm39) |
nonsense |
probably null |
|
|
R9335:Vmn1r36
|
UTSW |
6 |
66,693,430 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTGAATGACAAATTGAGAGACC -3'
(R):5'- GAAGTATGCTTCCTCTATGTGCTTAAG -3'
Sequencing Primer
(F):5'- ATGCAGATAGAGAGGCCT -3'
(R):5'- CCTCTATGTGCTTAAGATGAATACAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation