Incidental Mutation 'R4034:Vmn1r14'
| ID |
313620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r14
|
| Ensembl Gene |
ENSMUSG00000114982 |
| Gene Name |
vomeronasal 1 receptor 14 |
| Synonyms |
V1rc7 |
| MMRRC Submission |
040962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R4034 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57203140-57211335 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57211310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 252
(R252H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176376]
[ENSMUST00000177435]
[ENSMUST00000227209]
[ENSMUST00000227574]
[ENSMUST00000227768]
[ENSMUST00000227884]
|
| AlphaFold |
H3BJ46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176376
AA Change: R296H
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134841
Gene: ENSMUSG00000093692
AA Change: R296H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
35 |
303 |
2e-57 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177435
AA Change: R296H
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135207
Gene: ENSMUSG00000114982
AA Change: R296H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.9e-57 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227209
AA Change: R252H
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227574
AA Change: R252H
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227768
AA Change: R296H
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227884
AA Change: R296H
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
| Aarsd1 |
C |
T |
11: 101,302,158 (GRCm39) |
V301I |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
| Aspa |
T |
C |
11: 73,199,597 (GRCm39) |
K227E |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,991,078 (GRCm39) |
C708F |
possibly damaging |
Het |
| Csn1s2a |
A |
G |
5: 87,929,746 (GRCm39) |
Q115R |
probably benign |
Het |
| Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
| Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
| Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,908,122 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
G |
A |
7: 141,353,581 (GRCm39) |
|
probably null |
Het |
| Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
| Pgm5 |
T |
A |
19: 24,839,021 (GRCm39) |
I45F |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,762,964 (GRCm39) |
Y406H |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
T |
A |
18: 42,652,598 (GRCm39) |
N75K |
unknown |
Het |
| Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
| Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,459,871 (GRCm39) |
V1013A |
possibly damaging |
Het |
| Zfp37 |
G |
A |
4: 62,109,933 (GRCm39) |
T414I |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably damaging |
Het |
|
| Other mutations in Vmn1r14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1083:Vmn1r14
|
UTSW |
6 |
57,211,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Vmn1r14
|
UTSW |
6 |
57,211,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Vmn1r14
|
UTSW |
6 |
57,211,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3945:Vmn1r14
|
UTSW |
6 |
57,211,254 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4273:Vmn1r14
|
UTSW |
6 |
57,211,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Vmn1r14
|
UTSW |
6 |
57,210,808 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4451:Vmn1r14
|
UTSW |
6 |
57,211,213 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5978:Vmn1r14
|
UTSW |
6 |
57,210,929 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6378:Vmn1r14
|
UTSW |
6 |
57,210,587 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6829:Vmn1r14
|
UTSW |
6 |
57,210,536 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7153:Vmn1r14
|
UTSW |
6 |
57,210,851 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8015:Vmn1r14
|
UTSW |
6 |
57,211,015 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8105:Vmn1r14
|
UTSW |
6 |
57,211,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8830:Vmn1r14
|
UTSW |
6 |
57,211,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8831:Vmn1r14
|
UTSW |
6 |
57,210,505 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Vmn1r14
|
UTSW |
6 |
57,211,126 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCATCTTGCTCCTGGTAGTTTT -3'
(R):5'- CAGATACTGACATTAAATCTGCAGT -3'
Sequencing Primer
(F):5'- TTTTTGTGATTATGTACTGGGTGGAC -3'
(R):5'- AAGTTTCCAGCACATAGGTTGCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation