Incidental Mutation 'R0529:Vmn2r18'
| ID |
49045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r18
|
| Ensembl Gene |
ENSMUSG00000091794 |
| Gene Name |
vomeronasal 2, receptor 18 |
| Synonyms |
EG632671 |
| MMRRC Submission |
038721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0529 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
151485126-151529232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151485988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 502
(E502V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165928]
|
| AlphaFold |
A0A3B2WB67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165928
AA Change: E502V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127506
Gene: ENSMUSG00000091794
AA Change: E502V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
403 |
5.7e-39 |
PFAM |
|
Pfam:NCD3G
|
446 |
499 |
5.5e-20 |
PFAM |
|
Pfam:7tm_3
|
531 |
767 |
5e-53 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,211,228 (GRCm39) |
V126I |
probably benign |
Het |
| Aasdh |
A |
C |
5: 77,024,114 (GRCm39) |
Y179* |
probably null |
Het |
| Afp |
A |
G |
5: 90,652,254 (GRCm39) |
Y415C |
probably damaging |
Het |
| Aldh5a1 |
G |
T |
13: 25,097,856 (GRCm39) |
T393K |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,146 (GRCm39) |
S77P |
probably benign |
Het |
| Axl |
A |
G |
7: 25,486,712 (GRCm39) |
|
probably benign |
Het |
| Card10 |
A |
G |
15: 78,664,675 (GRCm39) |
|
probably null |
Het |
| Ccdc71l |
G |
A |
12: 32,429,251 (GRCm39) |
S90N |
probably damaging |
Het |
| Cebpa |
A |
T |
7: 34,819,624 (GRCm39) |
T261S |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,879,481 (GRCm39) |
E219G |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,986,062 (GRCm39) |
L1010H |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,831,394 (GRCm39) |
|
probably benign |
Het |
| Cyld |
A |
G |
8: 89,456,387 (GRCm39) |
E479G |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,360,092 (GRCm39) |
E256G |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,822,846 (GRCm39) |
D1140G |
probably damaging |
Het |
| Drd2 |
A |
C |
9: 49,318,374 (GRCm39) |
M439L |
probably benign |
Het |
| Drd3 |
G |
A |
16: 43,643,077 (GRCm39) |
V438M |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,057,858 (GRCm39) |
I70T |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,639,057 (GRCm39) |
K1082E |
probably damaging |
Het |
| Fbxw10 |
A |
C |
11: 62,750,671 (GRCm39) |
D428A |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,538,198 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,402,901 (GRCm39) |
I82F |
probably damaging |
Het |
| Gpatch4 |
T |
A |
3: 87,958,583 (GRCm39) |
H22Q |
probably damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,225 (GRCm39) |
F119L |
probably benign |
Het |
| Gtf2i |
A |
T |
5: 134,290,723 (GRCm39) |
L425* |
probably null |
Het |
| Knstrn |
T |
A |
2: 118,661,461 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,724,335 (GRCm39) |
I144L |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,377,463 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
C |
6: 113,243,213 (GRCm39) |
|
probably benign |
Het |
| Nsmce4a |
A |
T |
7: 130,135,536 (GRCm39) |
S345R |
probably benign |
Het |
| Oacyl |
T |
A |
18: 65,875,290 (GRCm39) |
V385D |
probably damaging |
Het |
| Or6k8-ps1 |
G |
A |
1: 173,979,696 (GRCm39) |
A205T |
probably benign |
Het |
| Or8b52 |
A |
T |
9: 38,576,808 (GRCm39) |
C111S |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 110,603,603 (GRCm39) |
S55P |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,390,150 (GRCm39) |
V1422E |
possibly damaging |
Het |
| Plcd3 |
T |
G |
11: 102,971,013 (GRCm39) |
H181P |
probably benign |
Het |
| Psmc5 |
G |
A |
11: 106,151,990 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,361,515 (GRCm39) |
|
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,598,016 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,440,806 (GRCm39) |
E93G |
probably damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,152 (GRCm39) |
E133G |
possibly damaging |
Het |
| Serpina1e |
A |
C |
12: 103,915,363 (GRCm39) |
L281R |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tent5c |
A |
G |
3: 100,379,686 (GRCm39) |
Y357H |
probably benign |
Het |
| Tmem63a |
A |
T |
1: 180,788,659 (GRCm39) |
E332V |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,745,990 (GRCm39) |
T312A |
probably damaging |
Het |
| Traf3ip3 |
G |
T |
1: 192,877,119 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
A |
G |
8: 47,980,014 (GRCm39) |
V174A |
possibly damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,450 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,240,714 (GRCm39) |
V133A |
probably benign |
Het |
| Wipf3 |
C |
A |
6: 54,462,348 (GRCm39) |
P186Q |
probably damaging |
Het |
| Yipf5 |
A |
T |
18: 40,345,215 (GRCm39) |
M55K |
probably benign |
Het |
| Zbtb7a |
G |
A |
10: 80,979,820 (GRCm39) |
V5M |
probably damaging |
Het |
| Zfy1 |
G |
T |
Y: 726,040 (GRCm39) |
S575Y |
probably damaging |
Het |
|
| Other mutations in Vmn2r18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Vmn2r18
|
APN |
5 |
151,496,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01564:Vmn2r18
|
APN |
5 |
151,508,633 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01602:Vmn2r18
|
APN |
5 |
151,510,106 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01605:Vmn2r18
|
APN |
5 |
151,510,106 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01619:Vmn2r18
|
APN |
5 |
151,510,229 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02177:Vmn2r18
|
APN |
5 |
151,510,274 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02682:Vmn2r18
|
APN |
5 |
151,508,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02751:Vmn2r18
|
APN |
5 |
151,508,072 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02977:Vmn2r18
|
APN |
5 |
151,510,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Vmn2r18
|
UTSW |
5 |
151,508,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0282:Vmn2r18
|
UTSW |
5 |
151,508,668 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0812:Vmn2r18
|
UTSW |
5 |
151,496,395 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Vmn2r18
|
UTSW |
5 |
151,510,301 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1467:Vmn2r18
|
UTSW |
5 |
151,510,301 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1506:Vmn2r18
|
UTSW |
5 |
151,499,099 (GRCm39) |
splice site |
probably null |
|
|
R1562:Vmn2r18
|
UTSW |
5 |
151,510,301 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1637:Vmn2r18
|
UTSW |
5 |
151,508,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Vmn2r18
|
UTSW |
5 |
151,485,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Vmn2r18
|
UTSW |
5 |
151,499,190 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1884:Vmn2r18
|
UTSW |
5 |
151,499,190 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1914:Vmn2r18
|
UTSW |
5 |
151,499,286 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2051:Vmn2r18
|
UTSW |
5 |
151,486,016 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2056:Vmn2r18
|
UTSW |
5 |
151,508,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2252:Vmn2r18
|
UTSW |
5 |
151,508,441 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2265:Vmn2r18
|
UTSW |
5 |
151,510,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Vmn2r18
|
UTSW |
5 |
151,510,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Vmn2r18
|
UTSW |
5 |
151,510,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2843:Vmn2r18
|
UTSW |
5 |
151,485,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3023:Vmn2r18
|
UTSW |
5 |
151,485,148 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3694:Vmn2r18
|
UTSW |
5 |
151,508,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3763:Vmn2r18
|
UTSW |
5 |
151,508,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Vmn2r18
|
UTSW |
5 |
151,485,148 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4007:Vmn2r18
|
UTSW |
5 |
151,508,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4152:Vmn2r18
|
UTSW |
5 |
151,485,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Vmn2r18
|
UTSW |
5 |
151,508,268 (GRCm39) |
nonsense |
probably null |
|
|
R4362:Vmn2r18
|
UTSW |
5 |
151,496,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Vmn2r18
|
UTSW |
5 |
151,508,424 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4716:Vmn2r18
|
UTSW |
5 |
151,485,602 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4817:Vmn2r18
|
UTSW |
5 |
151,508,897 (GRCm39) |
splice site |
probably null |
|
|
R5111:Vmn2r18
|
UTSW |
5 |
151,485,913 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5692:Vmn2r18
|
UTSW |
5 |
151,485,724 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6115:Vmn2r18
|
UTSW |
5 |
151,508,462 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6244:Vmn2r18
|
UTSW |
5 |
151,508,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Vmn2r18
|
UTSW |
5 |
151,485,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Vmn2r18
|
UTSW |
5 |
151,485,338 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7227:Vmn2r18
|
UTSW |
5 |
151,496,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Vmn2r18
|
UTSW |
5 |
151,485,682 (GRCm39) |
nonsense |
probably null |
|
|
R7506:Vmn2r18
|
UTSW |
5 |
151,508,485 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7590:Vmn2r18
|
UTSW |
5 |
151,485,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7721:Vmn2r18
|
UTSW |
5 |
151,510,158 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7877:Vmn2r18
|
UTSW |
5 |
151,508,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Vmn2r18
|
UTSW |
5 |
151,485,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Vmn2r18
|
UTSW |
5 |
151,485,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Vmn2r18
|
UTSW |
5 |
151,508,621 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8353:Vmn2r18
|
UTSW |
5 |
151,485,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Vmn2r18
|
UTSW |
5 |
151,485,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8670:Vmn2r18
|
UTSW |
5 |
151,485,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Vmn2r18
|
UTSW |
5 |
151,508,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8727:Vmn2r18
|
UTSW |
5 |
151,508,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8895:Vmn2r18
|
UTSW |
5 |
151,485,140 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9286:Vmn2r18
|
UTSW |
5 |
151,499,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9339:Vmn2r18
|
UTSW |
5 |
151,485,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Vmn2r18
|
UTSW |
5 |
151,508,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1187:Vmn2r18
|
UTSW |
5 |
151,508,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTGCCAGGAAAGCCACAG -3'
(R):5'- ACCCGAATGTGCCAGGCTAAAC -3'
Sequencing Primer
(F):5'- TCCTGGTTTCAAGGCCCTAAAAG -3'
(R):5'- TGTGCCAGGCTAAACACAAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation