Incidental Mutation 'R6997:Vmn2r18'
| ID |
544276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r18
|
| Ensembl Gene |
ENSMUSG00000091794 |
| Gene Name |
vomeronasal 2, receptor 18 |
| Synonyms |
EG632671 |
| MMRRC Submission |
045103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6997 (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 A
at 151485338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 719
(M719L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165928]
|
| AlphaFold |
A0A3B2WB67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165928
AA Change: M719L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127506
Gene: ENSMUSG00000091794
AA Change: M719L
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,171,539 (GRCm39) |
Y764C |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,095 (GRCm39) |
V267M |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,505,793 (GRCm38) |
H759L |
possibly damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,779,474 (GRCm39) |
L111P |
probably damaging |
Het |
| Ccl8 |
A |
T |
11: 82,006,865 (GRCm39) |
D26V |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,882,596 (GRCm39) |
|
probably benign |
Het |
| Cnga3 |
C |
A |
1: 37,283,965 (GRCm39) |
H89Q |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,056,190 (GRCm39) |
Q264L |
probably damaging |
Het |
| Coil |
A |
G |
11: 88,872,673 (GRCm39) |
T345A |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,281 (GRCm39) |
L461P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,414,922 (GRCm39) |
E151G |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,168,743 (GRCm39) |
C357S |
probably null |
Het |
| Ebf3 |
A |
C |
7: 136,826,994 (GRCm39) |
I306R |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,128,360 (GRCm39) |
H580R |
possibly damaging |
Het |
| Ermap |
A |
T |
4: 119,035,810 (GRCm39) |
F393I |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,613,151 (GRCm39) |
T217A |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,762,732 (GRCm39) |
Q745* |
probably null |
Het |
| Gja8 |
A |
G |
3: 96,826,657 (GRCm39) |
V335A |
probably benign |
Het |
| Gm21560 |
A |
T |
14: 6,218,333 (GRCm38) |
N48K |
probably damaging |
Het |
| Gpr158 |
C |
T |
2: 21,653,802 (GRCm39) |
T457I |
possibly damaging |
Het |
| Kcnv1 |
A |
T |
15: 44,977,997 (GRCm39) |
S14T |
unknown |
Het |
| Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
| Lamc2 |
G |
A |
1: 153,012,508 (GRCm39) |
T722M |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,142 (GRCm39) |
T1860A |
unknown |
Het |
| Map2k7 |
T |
C |
8: 4,294,035 (GRCm39) |
Y194H |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,881,982 (GRCm39) |
M282K |
probably benign |
Het |
| Mmp10 |
A |
G |
9: 7,503,531 (GRCm39) |
I134V |
probably benign |
Het |
| Mrtfa |
G |
T |
15: 80,902,649 (GRCm39) |
S220* |
probably null |
Het |
| Msh5 |
A |
T |
17: 35,248,978 (GRCm39) |
L685Q |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,111,463 (GRCm39) |
I1634N |
possibly damaging |
Het |
| Myh13 |
C |
T |
11: 67,217,980 (GRCm39) |
R18* |
probably null |
Het |
| Myo3b |
A |
T |
2: 69,957,329 (GRCm39) |
I185L |
probably damaging |
Het |
| Ninl |
G |
T |
2: 150,808,145 (GRCm39) |
H294Q |
probably benign |
Het |
| Or4a79 |
G |
A |
2: 89,552,269 (GRCm39) |
A62V |
possibly damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,238 (GRCm39) |
S235T |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,607 (GRCm39) |
I214T |
possibly damaging |
Het |
| Orm3 |
T |
A |
4: 63,275,180 (GRCm39) |
L97Q |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,889,281 (GRCm39) |
N432S |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,285,822 (GRCm39) |
D1020E |
probably damaging |
Het |
| Pxk |
T |
A |
14: 8,122,371 (GRCm38) |
D60E |
probably benign |
Het |
| Rack1 |
T |
A |
11: 48,694,752 (GRCm39) |
V198E |
probably damaging |
Het |
| Ripk1 |
C |
T |
13: 34,201,100 (GRCm39) |
A271V |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
G |
T |
13: 11,669,266 (GRCm39) |
H3513N |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,534,147 (GRCm39) |
D509E |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,233,414 (GRCm39) |
V181A |
probably benign |
Het |
| Slc5a4b |
C |
T |
10: 75,925,812 (GRCm39) |
A198T |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,848,552 (GRCm39) |
R357H |
possibly damaging |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11b |
G |
A |
15: 54,115,770 (GRCm39) |
L276F |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,493,118 (GRCm39) |
V723A |
probably benign |
Het |
| Usp45 |
G |
T |
4: 21,781,844 (GRCm39) |
R36I |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,838,737 (GRCm39) |
D2269G |
probably damaging |
Het |
| Vmn2r52 |
C |
T |
7: 9,902,998 (GRCm39) |
G477R |
probably benign |
Het |
| Vmn2r60 |
C |
A |
7: 41,791,716 (GRCm39) |
N546K |
probably benign |
Het |
| Wnt8b |
G |
A |
19: 44,500,280 (GRCm39) |
C289Y |
probably damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,329,925 (GRCm39) |
M10R |
probably benign |
Het |
| Zfp945 |
T |
A |
17: 23,071,543 (GRCm39) |
K140* |
probably null |
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 |
|
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'- TGAGACACAGTGAGATGCTCATG -3'
(R):5'- CAGATTCATACTCTGAACATGCTC -3'
Sequencing Primer
(F):5'- ACTCAAAAACTAATGAAAAGTAGGCC -3'
(R):5'- CATACTCTGAACATGCTCATATCATC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation