Incidental Mutation 'R2304:Vmn1r184'
| ID |
244526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r184
|
| Ensembl Gene |
ENSMUSG00000046130 |
| Gene Name |
vomeronasal 1 receptor, 184 |
| Synonyms |
|
| MMRRC Submission |
040303-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25966256-25967200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25966550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 99
(S99P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057123]
[ENSMUST00000227230]
[ENSMUST00000227232]
[ENSMUST00000227534]
[ENSMUST00000227790]
[ENSMUST00000228145]
[ENSMUST00000228369]
|
| AlphaFold |
E9Q2N4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057123
AA Change: S99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061885
Gene: ENSMUSG00000046130
AA Change: S99P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
308 |
1.7e-7 |
PFAM |
|
Pfam:V1R
|
35 |
297 |
7.5e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227230
AA Change: S99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227232
AA Change: S99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227534
AA Change: S99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227790
AA Change: S99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228145
AA Change: S99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228369
AA Change: S99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,142,366 (GRCm39) |
R806S |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,029 (GRCm39) |
K483R |
possibly damaging |
Het |
| Dcdc5 |
T |
A |
2: 106,166,488 (GRCm39) |
|
noncoding transcript |
Het |
| Dvl1 |
C |
T |
4: 155,940,041 (GRCm39) |
S391F |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,937 (GRCm39) |
L125P |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5449 |
G |
T |
13: 53,679,899 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
T |
C |
5: 143,373,595 (GRCm39) |
Y796H |
probably damaging |
Het |
| Mcrip1 |
A |
T |
11: 120,435,519 (GRCm39) |
F39I |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,502,238 (GRCm39) |
I158L |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,487,479 (GRCm39) |
N291D |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,499,879 (GRCm39) |
V1255D |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,989,551 (GRCm39) |
T1023A |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,838 (GRCm39) |
S188P |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,497,542 (GRCm39) |
E20G |
probably damaging |
Het |
| Slc13a5 |
A |
G |
11: 72,149,865 (GRCm39) |
V172A |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sp8 |
G |
T |
12: 118,812,304 (GRCm39) |
S53I |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,023,630 (GRCm39) |
|
probably null |
Het |
| Trip11 |
A |
T |
12: 101,865,236 (GRCm39) |
F146I |
possibly damaging |
Het |
| Xpot |
T |
C |
10: 121,447,488 (GRCm39) |
I325V |
probably benign |
Het |
| Zfp786 |
A |
G |
6: 47,797,633 (GRCm39) |
L435P |
probably damaging |
Het |
|
| Other mutations in Vmn1r184 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Vmn1r184
|
APN |
7 |
25,966,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Vmn1r184
|
APN |
7 |
25,966,320 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02961:Vmn1r184
|
APN |
7 |
25,967,075 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03271:Vmn1r184
|
APN |
7 |
25,967,034 (GRCm39) |
missense |
probably benign |
|
|
R0302:Vmn1r184
|
UTSW |
7 |
25,966,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Vmn1r184
|
UTSW |
7 |
25,967,076 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0591:Vmn1r184
|
UTSW |
7 |
25,966,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0620:Vmn1r184
|
UTSW |
7 |
25,966,602 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1644:Vmn1r184
|
UTSW |
7 |
25,966,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2329:Vmn1r184
|
UTSW |
7 |
25,966,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Vmn1r184
|
UTSW |
7 |
25,967,008 (GRCm39) |
nonsense |
probably null |
|
|
R5020:Vmn1r184
|
UTSW |
7 |
25,966,955 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5030:Vmn1r184
|
UTSW |
7 |
25,966,881 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5049:Vmn1r184
|
UTSW |
7 |
25,966,793 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5076:Vmn1r184
|
UTSW |
7 |
25,966,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Vmn1r184
|
UTSW |
7 |
25,967,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5554:Vmn1r184
|
UTSW |
7 |
25,966,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Vmn1r184
|
UTSW |
7 |
25,966,817 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6868:Vmn1r184
|
UTSW |
7 |
25,966,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6937:Vmn1r184
|
UTSW |
7 |
25,966,750 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6943:Vmn1r184
|
UTSW |
7 |
25,966,563 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7190:Vmn1r184
|
UTSW |
7 |
25,967,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Vmn1r184
|
UTSW |
7 |
25,966,602 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7472:Vmn1r184
|
UTSW |
7 |
25,966,824 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8258:Vmn1r184
|
UTSW |
7 |
25,966,686 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8259:Vmn1r184
|
UTSW |
7 |
25,966,686 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8911:Vmn1r184
|
UTSW |
7 |
25,966,310 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9008:Vmn1r184
|
UTSW |
7 |
25,967,177 (GRCm39) |
missense |
probably benign |
|
|
R9159:Vmn1r184
|
UTSW |
7 |
25,966,545 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9216:Vmn1r184
|
UTSW |
7 |
25,966,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9548:Vmn1r184
|
UTSW |
7 |
25,966,734 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9588:Vmn1r184
|
UTSW |
7 |
25,966,347 (GRCm39) |
missense |
probably null |
0.78 |
|
Z1177:Vmn1r184
|
UTSW |
7 |
25,966,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAAACTACAGTTGGAATTCTGG -3'
(R):5'- TTCAGGGAACATTACGAATGCTG -3'
Sequencing Primer
(F):5'- CTAGTCCTTTACTACAGAAAATGCAG -3'
(R):5'- GGAACATTACGAATGCTGCATAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation