Incidental Mutation 'R7227:Vmn2r18'
| ID |
562219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r18
|
| Ensembl Gene |
ENSMUSG00000091794 |
| Gene Name |
vomeronasal 2, receptor 18 |
| Synonyms |
EG632671 |
| MMRRC Submission |
045299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7227 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
151485126-151529232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151496264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 485
(T485A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165928]
|
| AlphaFold |
A0A3B2WB67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165928
AA Change: T485A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127506
Gene: ENSMUSG00000091794
AA Change: T485A
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,952,449 (GRCm39) |
L344H |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,875,593 (GRCm39) |
S589T |
probably damaging |
Het |
| Acsm2 |
A |
C |
7: 119,190,556 (GRCm39) |
I520L |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,200,784 (GRCm39) |
Y544H |
probably damaging |
Het |
| Ascc1 |
T |
A |
10: 59,843,560 (GRCm39) |
Y41N |
probably benign |
Het |
| Bend3 |
T |
A |
10: 43,387,401 (GRCm39) |
L598Q |
probably damaging |
Het |
| Cfap74 |
T |
G |
4: 155,545,405 (GRCm39) |
Y1108* |
probably null |
Het |
| Cxcl17 |
C |
A |
7: 25,102,319 (GRCm39) |
R41S |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,312,222 (GRCm39) |
Y4370H |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,771,932 (GRCm39) |
Q579L |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,693,742 (GRCm39) |
M195I |
unknown |
Het |
| Esyt2 |
A |
G |
12: 116,305,745 (GRCm39) |
D325G |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,463,646 (GRCm39) |
I1396S |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,522,085 (GRCm39) |
I661K |
unknown |
Het |
| Gja1 |
T |
A |
10: 56,263,752 (GRCm39) |
L37Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,310,387 (GRCm39) |
S876P |
probably benign |
Het |
| Hk3 |
C |
T |
13: 55,160,053 (GRCm39) |
R362H |
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,330 (GRCm39) |
M53K |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,298,631 (GRCm39) |
S137P |
probably benign |
Het |
| Kremen2 |
G |
T |
17: 23,963,573 (GRCm39) |
Y70* |
probably null |
Het |
| Lag3 |
C |
T |
6: 124,885,457 (GRCm39) |
G308S |
possibly damaging |
Het |
| Mab21l4 |
G |
T |
1: 93,079,736 (GRCm39) |
N451K |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,396,624 (GRCm39) |
L542Q |
probably damaging |
Het |
| Mef2d |
G |
A |
3: 88,065,514 (GRCm39) |
|
probably null |
Het |
| Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
| Mpp3 |
T |
A |
11: 101,895,904 (GRCm39) |
Y457F |
possibly damaging |
Het |
| Mrpl12 |
T |
A |
11: 120,379,178 (GRCm39) |
I175N |
probably damaging |
Het |
| Mybbp1a |
G |
T |
11: 72,338,585 (GRCm39) |
K728N |
possibly damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,332,420 (GRCm39) |
V112M |
probably damaging |
Het |
| Nucb2 |
A |
T |
7: 116,125,311 (GRCm39) |
D123V |
probably damaging |
Het |
| Or12j2 |
A |
G |
7: 139,915,534 (GRCm39) |
|
probably benign |
Het |
| Orc3 |
T |
C |
4: 34,572,542 (GRCm39) |
T629A |
probably benign |
Het |
| Pdk1 |
T |
A |
2: 71,714,245 (GRCm39) |
N218K |
possibly damaging |
Het |
| Plce1 |
A |
G |
19: 38,715,346 (GRCm39) |
T1298A |
probably benign |
Het |
| Ppan |
T |
A |
9: 20,799,496 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,582,367 (GRCm39) |
I1572L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,328,935 (GRCm39) |
Y1027N |
probably benign |
Het |
| Serpinb3a |
T |
A |
1: 106,979,359 (GRCm39) |
T48S |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,195,032 (GRCm39) |
M264V |
probably benign |
Het |
| Slc44a3 |
A |
T |
3: 121,303,879 (GRCm39) |
C286S |
possibly damaging |
Het |
| Slc8a2 |
T |
C |
7: 15,878,906 (GRCm39) |
I464T |
possibly damaging |
Het |
| Smco1 |
T |
C |
16: 32,092,833 (GRCm39) |
M168T |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,349,513 (GRCm39) |
Y246* |
probably null |
Het |
| Ssbp2 |
T |
C |
13: 91,823,244 (GRCm39) |
M213T |
probably benign |
Het |
| Stk40 |
G |
T |
4: 126,017,559 (GRCm39) |
A29S |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,067,296 (GRCm39) |
F683I |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,269,889 (GRCm39) |
T880A |
possibly damaging |
Het |
| Trim38 |
T |
A |
13: 23,969,946 (GRCm39) |
N168K |
possibly damaging |
Het |
| Ube2d1 |
T |
A |
10: 71,091,702 (GRCm39) |
Y134F |
possibly damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,475 (GRCm39) |
Y246* |
probably null |
Het |
| Wrn |
T |
A |
8: 33,738,974 (GRCm39) |
I1285F |
probably damaging |
Het |
| Xrcc1 |
C |
A |
7: 24,246,757 (GRCm39) |
H8Q |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,413 (GRCm39) |
V317A |
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 |
|
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 |
|
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'- ATGGCATAATACCATGAAAACTGCC -3'
(R):5'- GGAAAGTATGCCAACTTCAACTC -3'
Sequencing Primer
(F):5'- GCCACTCAAACCTTTATACATTGTG -3'
(R):5'- AGTATGCCAACTTCAACTCTACATTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation