Incidental Mutation 'R4007:Vmn2r18'
| ID |
311519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r18
|
| Ensembl Gene |
ENSMUSG00000091794 |
| Gene Name |
vomeronasal 2, receptor 18 |
| Synonyms |
EG632671 |
| MMRRC Submission |
041610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
151485126-151529232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 151508711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 138
(W138R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165928]
|
| AlphaFold |
A0A3B2WB67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165928
AA Change: W138R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127506
Gene: ENSMUSG00000091794
AA Change: W138R
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
| Aff1 |
A |
T |
5: 103,932,088 (GRCm39) |
K243N |
probably benign |
Het |
| Aknad1 |
T |
C |
3: 108,682,598 (GRCm39) |
I558T |
probably benign |
Het |
| Ampd1 |
A |
G |
3: 102,999,776 (GRCm39) |
I460V |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,150,679 (GRCm39) |
H1459L |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,243,012 (GRCm39) |
R459W |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,239,827 (GRCm39) |
I1667N |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,291 (GRCm39) |
S1672P |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
| Dhx37 |
G |
A |
5: 125,501,995 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,025,741 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
G |
A |
4: 56,794,139 (GRCm39) |
T168I |
probably damaging |
Het |
| Erbb4 |
C |
A |
1: 68,779,560 (GRCm39) |
R72L |
probably damaging |
Het |
| F11r |
A |
G |
1: 171,288,916 (GRCm39) |
K178R |
probably benign |
Het |
| Fan1 |
A |
G |
7: 64,016,309 (GRCm39) |
L605P |
probably damaging |
Het |
| Fcna |
A |
G |
2: 25,516,018 (GRCm39) |
|
probably null |
Het |
| Filip1 |
A |
G |
9: 79,726,009 (GRCm39) |
I870T |
possibly damaging |
Het |
| Gm11595 |
C |
T |
11: 99,662,861 (GRCm39) |
C273Y |
unknown |
Het |
| Gml |
T |
A |
15: 74,685,548 (GRCm39) |
I146L |
possibly damaging |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 140,596,627 (GRCm39) |
I69F |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
| Kazn |
T |
C |
4: 141,834,203 (GRCm39) |
T618A |
unknown |
Het |
| Mrps5 |
C |
A |
2: 127,433,755 (GRCm39) |
T48K |
possibly damaging |
Het |
| Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Opn4 |
A |
T |
14: 34,321,789 (GRCm39) |
S43T |
probably benign |
Het |
| Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,541,274 (GRCm39) |
E1021G |
probably damaging |
Het |
| Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
| Rbsn |
T |
A |
6: 92,166,800 (GRCm39) |
T615S |
probably benign |
Het |
| Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
| Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,751,738 (GRCm39) |
I129V |
probably damaging |
Het |
| Rubcnl |
G |
T |
14: 75,287,143 (GRCm39) |
V604L |
possibly damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,590,532 (GRCm39) |
K374* |
probably null |
Het |
| Slc4a4 |
T |
A |
5: 89,362,452 (GRCm39) |
S854R |
probably damaging |
Het |
| Sv2c |
A |
G |
13: 96,123,341 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,658,430 (GRCm39) |
S572G |
probably damaging |
Het |
| Trbv13-3 |
T |
C |
6: 41,107,120 (GRCm39) |
C14R |
probably benign |
Het |
| Ttc7 |
G |
A |
17: 87,597,679 (GRCm39) |
D84N |
possibly damaging |
Het |
| Ubtd1 |
G |
T |
19: 42,020,555 (GRCm39) |
G100* |
probably null |
Het |
| Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
| Zfp385b |
C |
T |
2: 77,549,836 (GRCm39) |
G83D |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,932,038 (GRCm39) |
|
probably benign |
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 |
|
R0529:Vmn2r18
|
UTSW |
5 |
151,485,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- GTGGTTCAAATTTGCCAATCCAAC -3'
(R):5'- CAGTCTTTGACCCTCATATGTGAAG -3'
Sequencing Primer
(F):5'- ACACCAGATGTATACTGTACCTTC -3'
(R):5'- AGAATGTACTCACTTGCTCTCTGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation