Incidental Mutation 'R5111:Vmn2r18'
| ID |
393852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r18
|
| Ensembl Gene |
ENSMUSG00000091794 |
| Gene Name |
vomeronasal 2, receptor 18 |
| Synonyms |
EG632671 |
| MMRRC Submission |
042699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5111 (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 151485913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 527
(M527K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165928]
|
| AlphaFold |
A0A3B2WB67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165928
AA Change: M527K
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127506
Gene: ENSMUSG00000091794
AA Change: M527K
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
| Capns1 |
A |
G |
7: 29,891,944 (GRCm39) |
V106A |
probably benign |
Het |
| Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
| Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
| Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
| Csf3r |
T |
C |
4: 125,923,861 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,046 (GRCm39) |
Y485C |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
| Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,265,796 (GRCm39) |
D341G |
probably benign |
Het |
| H2-Ab1 |
T |
A |
17: 34,486,456 (GRCm39) |
S172T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
| Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,155 (GRCm39) |
E153G |
possibly damaging |
Het |
| Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
| Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mdm2 |
A |
T |
10: 117,527,126 (GRCm39) |
V273D |
possibly damaging |
Het |
| Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,837 (GRCm39) |
L110* |
probably null |
Het |
| Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
| Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
| Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
| Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- GCCAATGTGAACACAAGTGC -3'
(R):5'- GAATGTGCCAGGCTAAACAC -3'
Sequencing Primer
(F):5'- CCAATGTGAACACAAGTGCAAATG -3'
(R):5'- TGTGCCAGGCTAAACACAACATAAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation