Incidental Mutation 'R6486:Vmn1r234'
| ID |
517350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r234
|
| Ensembl Gene |
ENSMUSG00000057203 |
| Gene Name |
vomeronasal 1 receptor 234 |
| Synonyms |
V1rf1 |
| MMRRC Submission |
044618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21449088-21450078 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21449604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 173
(M173L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079633]
|
| AlphaFold |
Q8R298 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079633
AA Change: M173L
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000078579
Gene: ENSMUSG00000057203
AA Change: M173L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
25 |
315 |
2.8e-14 |
PFAM |
|
Pfam:V1R
|
57 |
318 |
2.3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177028
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1d |
T |
A |
14: 29,836,190 (GRCm39) |
M853L |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,524,448 (GRCm39) |
|
probably null |
Het |
| Capg |
G |
T |
6: 72,534,733 (GRCm39) |
E187* |
probably null |
Het |
| Carns1 |
C |
T |
19: 4,219,979 (GRCm39) |
A419T |
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,305,027 (GRCm39) |
M407T |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,521,582 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,845,084 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,360,186 (GRCm39) |
N704D |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,572 (GRCm39) |
K223E |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,528,233 (GRCm39) |
N78I |
possibly damaging |
Het |
| Lmbr1 |
C |
T |
5: 29,528,859 (GRCm39) |
V122M |
probably damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,469 (GRCm39) |
A309E |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,648 (GRCm39) |
E1713G |
possibly damaging |
Het |
| Neto1 |
A |
G |
18: 86,479,371 (GRCm39) |
I186M |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,532,952 (GRCm39) |
D668G |
probably damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,247,927 (GRCm39) |
|
probably null |
Het |
| Or1j11 |
A |
T |
2: 36,311,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Or5b124 |
T |
G |
19: 13,611,055 (GRCm39) |
N193K |
probably damaging |
Het |
| Or8c11 |
G |
A |
9: 38,289,200 (GRCm39) |
V2I |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,570,628 (GRCm39) |
S2304P |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,671,067 (GRCm39) |
F551S |
probably damaging |
Het |
| Stra6 |
TC |
T |
9: 58,058,705 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,851,650 (GRCm39) |
|
probably null |
Het |
| Tnfrsf22 |
T |
C |
7: 143,194,493 (GRCm39) |
T145A |
possibly damaging |
Het |
| Trp63 |
A |
T |
16: 25,684,090 (GRCm39) |
T326S |
probably damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,304,425 (GRCm39) |
I669L |
probably benign |
Het |
| Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
Het |
|
| Other mutations in Vmn1r234 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Vmn1r234
|
APN |
17 |
21,449,860 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01485:Vmn1r234
|
APN |
17 |
21,449,171 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02149:Vmn1r234
|
APN |
17 |
21,449,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02291:Vmn1r234
|
APN |
17 |
21,449,193 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02993:Vmn1r234
|
APN |
17 |
21,449,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03223:Vmn1r234
|
APN |
17 |
21,449,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0626:Vmn1r234
|
UTSW |
17 |
21,450,007 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1274:Vmn1r234
|
UTSW |
17 |
21,449,513 (GRCm39) |
frame shift |
probably null |
|
|
R1275:Vmn1r234
|
UTSW |
17 |
21,449,513 (GRCm39) |
frame shift |
probably null |
|
|
R1288:Vmn1r234
|
UTSW |
17 |
21,449,513 (GRCm39) |
frame shift |
probably null |
|
|
R1289:Vmn1r234
|
UTSW |
17 |
21,449,513 (GRCm39) |
frame shift |
probably null |
|
|
R1319:Vmn1r234
|
UTSW |
17 |
21,449,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1412:Vmn1r234
|
UTSW |
17 |
21,449,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2323:Vmn1r234
|
UTSW |
17 |
21,449,965 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3755:Vmn1r234
|
UTSW |
17 |
21,449,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4299:Vmn1r234
|
UTSW |
17 |
21,449,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5301:Vmn1r234
|
UTSW |
17 |
21,449,589 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5741:Vmn1r234
|
UTSW |
17 |
21,449,731 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6197:Vmn1r234
|
UTSW |
17 |
21,449,589 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6218:Vmn1r234
|
UTSW |
17 |
21,449,983 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7482:Vmn1r234
|
UTSW |
17 |
21,449,637 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7635:Vmn1r234
|
UTSW |
17 |
21,449,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Vmn1r234
|
UTSW |
17 |
21,449,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9506:Vmn1r234
|
UTSW |
17 |
21,449,503 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9530:Vmn1r234
|
UTSW |
17 |
21,449,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Vmn1r234
|
UTSW |
17 |
21,449,152 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCATTCGGCAGTGCATG -3'
(R):5'- TCTGGACTCATGGCTGGATC -3'
Sequencing Primer
(F):5'- CATGCTTATTGAGTGTCTTCCAG -3'
(R):5'- GCTGGATCTAGGGAAAATATTGCTCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation