Incidental Mutation 'R5538:Vmn2r116'
ID |
434957 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r116
|
Ensembl Gene |
ENSMUSG00000090966 |
Gene Name |
vomeronasal 2, receptor 116 |
Synonyms |
V2Rp5, EG619697 |
MMRRC Submission |
043096-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R5538 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 23620041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 592
(L592F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
AlphaFold |
E9Q6I0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164856
AA Change: L592F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128106 Gene: ENSMUSG00000090966 AA Change: L592F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
469 |
4.4e-30 |
PFAM |
Pfam:NCD3G
|
511 |
564 |
1.2e-22 |
PFAM |
low complexity region
|
589 |
594 |
N/A |
INTRINSIC |
Pfam:7tm_3
|
595 |
832 |
8.7e-57 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
94% (73/78) |
MGI Phenotype |
PHENOTYPE: Female mice homozygous for a knock-out allele stimulated with male pheromone (Gm6084) fail to exhibit an increase in lordosis behavior and successful intromission. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
A |
13: 81,581,808 (GRCm39) |
R4745S |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,823,257 (GRCm39) |
E642G |
probably damaging |
Het |
Arhgap11a |
G |
T |
2: 113,667,875 (GRCm39) |
D375E |
probably benign |
Het |
Arl8b |
C |
A |
6: 108,760,297 (GRCm39) |
L28M |
probably damaging |
Het |
Bbs2 |
G |
A |
8: 94,816,391 (GRCm39) |
T157M |
probably damaging |
Het |
C2cd3 |
T |
A |
7: 100,104,700 (GRCm39) |
|
probably null |
Het |
C6 |
T |
A |
15: 4,844,311 (GRCm39) |
I911N |
possibly damaging |
Het |
Cc2d2a |
T |
C |
5: 43,852,518 (GRCm39) |
I365T |
possibly damaging |
Het |
Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
Ceacam3 |
A |
T |
7: 16,892,346 (GRCm39) |
D363V |
probably damaging |
Het |
Cep63 |
A |
T |
9: 102,465,992 (GRCm39) |
L678* |
probably null |
Het |
Clasrp |
A |
C |
7: 19,318,707 (GRCm39) |
|
probably benign |
Het |
Clk2 |
T |
A |
3: 89,082,962 (GRCm39) |
Y412N |
probably damaging |
Het |
Col24a1 |
C |
T |
3: 144,998,882 (GRCm39) |
A5V |
probably damaging |
Het |
Cox16 |
T |
C |
12: 81,531,703 (GRCm39) |
N13D |
possibly damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dhx32 |
A |
T |
7: 133,324,946 (GRCm39) |
M437K |
probably benign |
Het |
Dnm2 |
T |
C |
9: 21,416,923 (GRCm39) |
F819L |
probably benign |
Het |
Dpysl4 |
A |
G |
7: 138,671,906 (GRCm39) |
T85A |
probably benign |
Het |
Dspp |
A |
T |
5: 104,323,096 (GRCm39) |
K80* |
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,168,630 (GRCm39) |
|
probably benign |
Het |
Ern1 |
A |
G |
11: 106,312,727 (GRCm39) |
V218A |
possibly damaging |
Het |
Fbn2 |
G |
A |
18: 58,204,973 (GRCm39) |
R1157C |
probably benign |
Het |
Fez1 |
T |
A |
9: 36,780,172 (GRCm39) |
I323N |
probably damaging |
Het |
Fmo9 |
T |
A |
1: 166,501,198 (GRCm39) |
T199S |
probably benign |
Het |
Fry |
T |
A |
5: 150,419,313 (GRCm39) |
L915Q |
probably damaging |
Het |
Gatd1 |
A |
G |
7: 140,986,758 (GRCm39) |
|
probably benign |
Het |
Gm10719 |
T |
C |
9: 3,018,962 (GRCm39) |
L69S |
probably benign |
Het |
Gnpda2 |
A |
T |
5: 69,735,394 (GRCm39) |
H230Q |
probably damaging |
Het |
Gramd1c |
T |
A |
16: 43,802,455 (GRCm39) |
N652I |
probably damaging |
Het |
H2-T13 |
T |
A |
17: 36,392,178 (GRCm39) |
H178L |
probably benign |
Het |
Hells |
T |
A |
19: 38,942,096 (GRCm39) |
F462Y |
probably benign |
Het |
Htr7 |
A |
G |
19: 35,947,235 (GRCm39) |
F260L |
probably benign |
Het |
Itsn1 |
C |
A |
16: 91,580,990 (GRCm39) |
A23D |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
Kctd16 |
T |
A |
18: 40,390,319 (GRCm39) |
Y97* |
probably null |
Het |
Kif20b |
A |
T |
19: 34,930,364 (GRCm39) |
K25* |
probably null |
Het |
Klf2 |
T |
C |
8: 73,073,316 (GRCm39) |
L40P |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,731,639 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lonrf1 |
T |
A |
8: 36,690,178 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 40,587,486 (GRCm39) |
I154K |
unknown |
Het |
Mybpc1 |
T |
A |
10: 88,381,891 (GRCm39) |
I600L |
possibly damaging |
Het |
Npnt |
T |
C |
3: 132,610,724 (GRCm39) |
N285S |
probably damaging |
Het |
Or4c12b |
T |
A |
2: 89,646,964 (GRCm39) |
F92Y |
probably damaging |
Het |
Or51h5 |
A |
G |
7: 102,577,728 (GRCm39) |
T298A |
probably damaging |
Het |
Or6c69 |
T |
A |
10: 129,747,871 (GRCm39) |
Y92F |
probably benign |
Het |
Or6n1 |
T |
C |
1: 173,917,544 (GRCm39) |
*313R |
probably null |
Het |
Pcnx1 |
T |
C |
12: 81,907,183 (GRCm39) |
V13A |
probably damaging |
Het |
Phkb |
G |
A |
8: 86,648,756 (GRCm39) |
V191I |
possibly damaging |
Het |
Pnpla6 |
A |
G |
8: 3,581,508 (GRCm39) |
M594V |
probably benign |
Het |
Potefam3e |
A |
C |
8: 19,799,430 (GRCm39) |
|
probably null |
Het |
Prkdc |
A |
G |
16: 15,469,333 (GRCm39) |
E146G |
probably damaging |
Het |
Ror1 |
T |
C |
4: 100,298,208 (GRCm39) |
M527T |
probably benign |
Het |
Scnm1 |
A |
G |
3: 95,037,066 (GRCm39) |
|
probably benign |
Het |
Skint11 |
A |
T |
4: 114,088,959 (GRCm39) |
N251I |
probably damaging |
Het |
Slc19a3 |
T |
A |
1: 83,000,282 (GRCm39) |
N245I |
possibly damaging |
Het |
Slc1a3 |
A |
T |
15: 8,675,188 (GRCm39) |
D272E |
probably damaging |
Het |
Smok2b |
T |
A |
17: 13,454,440 (GRCm39) |
V200D |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,429,112 (GRCm39) |
Y417H |
probably damaging |
Het |
Stk11ip |
C |
A |
1: 75,504,979 (GRCm39) |
S388R |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,049,282 (GRCm39) |
|
probably null |
Het |
Sytl2 |
A |
G |
7: 90,038,114 (GRCm39) |
I525V |
probably benign |
Het |
Tie1 |
T |
C |
4: 118,343,390 (GRCm39) |
N158D |
probably benign |
Het |
Tle2 |
T |
C |
10: 81,416,418 (GRCm39) |
L180P |
probably damaging |
Het |
Txlnb |
T |
C |
10: 17,714,657 (GRCm39) |
L363P |
probably damaging |
Het |
Upk3b |
C |
G |
5: 136,072,890 (GRCm39) |
A258G |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,908,612 (GRCm39) |
D1031E |
possibly damaging |
Het |
Zfp607b |
A |
G |
7: 27,402,294 (GRCm39) |
H250R |
probably damaging |
Het |
|
Other mutations in Vmn2r116 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00898:Vmn2r116
|
APN |
17 |
23,604,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00985:Vmn2r116
|
APN |
17 |
23,620,489 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Vmn2r116
|
APN |
17 |
23,606,210 (GRCm39) |
missense |
probably benign |
0.12 |
IGL00990:Vmn2r116
|
APN |
17 |
23,616,701 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01383:Vmn2r116
|
APN |
17 |
23,620,575 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01459:Vmn2r116
|
APN |
17 |
23,603,903 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01725:Vmn2r116
|
APN |
17 |
23,605,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02125:Vmn2r116
|
APN |
17 |
23,616,601 (GRCm39) |
splice site |
probably benign |
|
IGL02170:Vmn2r116
|
APN |
17 |
23,603,907 (GRCm39) |
missense |
probably benign |
|
IGL02209:Vmn2r116
|
APN |
17 |
23,607,761 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02226:Vmn2r116
|
APN |
17 |
23,603,808 (GRCm39) |
missense |
probably null |
|
IGL02272:Vmn2r116
|
APN |
17 |
23,604,978 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02272:Vmn2r116
|
APN |
17 |
23,604,973 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02403:Vmn2r116
|
APN |
17 |
23,606,338 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02686:Vmn2r116
|
APN |
17 |
23,607,767 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02750:Vmn2r116
|
APN |
17 |
23,616,608 (GRCm39) |
splice site |
probably benign |
|
IGL02977:Vmn2r116
|
APN |
17 |
23,607,748 (GRCm39) |
missense |
possibly damaging |
0.90 |
PIT4449001:Vmn2r116
|
UTSW |
17 |
23,607,921 (GRCm39) |
missense |
probably benign |
0.41 |
R0015:Vmn2r116
|
UTSW |
17 |
23,620,823 (GRCm39) |
missense |
probably benign |
0.03 |
R0219:Vmn2r116
|
UTSW |
17 |
23,605,072 (GRCm39) |
nonsense |
probably null |
|
R0281:Vmn2r116
|
UTSW |
17 |
23,620,387 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0415:Vmn2r116
|
UTSW |
17 |
23,606,253 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0592:Vmn2r116
|
UTSW |
17 |
23,605,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R0610:Vmn2r116
|
UTSW |
17 |
23,606,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R0635:Vmn2r116
|
UTSW |
17 |
23,605,861 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0843:Vmn2r116
|
UTSW |
17 |
23,619,934 (GRCm39) |
missense |
probably benign |
0.01 |
R1329:Vmn2r116
|
UTSW |
17 |
23,606,162 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1396:Vmn2r116
|
UTSW |
17 |
23,605,115 (GRCm39) |
missense |
probably benign |
|
R1401:Vmn2r116
|
UTSW |
17 |
23,605,570 (GRCm39) |
splice site |
probably benign |
|
R1574:Vmn2r116
|
UTSW |
17 |
23,606,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R1574:Vmn2r116
|
UTSW |
17 |
23,606,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R1766:Vmn2r116
|
UTSW |
17 |
23,620,740 (GRCm39) |
missense |
probably damaging |
0.98 |
R2157:Vmn2r116
|
UTSW |
17 |
23,620,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R3622:Vmn2r116
|
UTSW |
17 |
23,605,025 (GRCm39) |
missense |
probably benign |
0.11 |
R3690:Vmn2r116
|
UTSW |
17 |
23,603,798 (GRCm39) |
missense |
unknown |
|
R4298:Vmn2r116
|
UTSW |
17 |
23,620,801 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4373:Vmn2r116
|
UTSW |
17 |
23,620,395 (GRCm39) |
missense |
probably benign |
0.01 |
R4860:Vmn2r116
|
UTSW |
17 |
23,620,777 (GRCm39) |
missense |
probably benign |
|
R4941:Vmn2r116
|
UTSW |
17 |
23,620,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Vmn2r116
|
UTSW |
17 |
23,606,138 (GRCm39) |
missense |
probably benign |
0.01 |
R5503:Vmn2r116
|
UTSW |
17 |
23,605,778 (GRCm39) |
missense |
probably benign |
0.07 |
R5510:Vmn2r116
|
UTSW |
17 |
23,605,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R5689:Vmn2r116
|
UTSW |
17 |
23,616,693 (GRCm39) |
missense |
probably benign |
0.30 |
R5765:Vmn2r116
|
UTSW |
17 |
23,620,378 (GRCm39) |
missense |
probably damaging |
0.99 |
R5794:Vmn2r116
|
UTSW |
17 |
23,604,942 (GRCm39) |
missense |
probably damaging |
0.99 |
R5807:Vmn2r116
|
UTSW |
17 |
23,606,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R5837:Vmn2r116
|
UTSW |
17 |
23,606,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R6262:Vmn2r116
|
UTSW |
17 |
23,606,351 (GRCm39) |
missense |
probably benign |
0.03 |
R6298:Vmn2r116
|
UTSW |
17 |
23,605,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R6651:Vmn2r116
|
UTSW |
17 |
23,607,805 (GRCm39) |
nonsense |
probably null |
|
R6667:Vmn2r116
|
UTSW |
17 |
23,620,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7393:Vmn2r116
|
UTSW |
17 |
23,605,099 (GRCm39) |
missense |
probably benign |
0.14 |
R7571:Vmn2r116
|
UTSW |
17 |
23,603,830 (GRCm39) |
splice site |
probably null |
|
R7940:Vmn2r116
|
UTSW |
17 |
23,605,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R8510:Vmn2r116
|
UTSW |
17 |
23,604,905 (GRCm39) |
nonsense |
probably null |
|
R8950:Vmn2r116
|
UTSW |
17 |
23,620,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R8956:Vmn2r116
|
UTSW |
17 |
23,605,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R8977:Vmn2r116
|
UTSW |
17 |
23,605,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9030:Vmn2r116
|
UTSW |
17 |
23,603,864 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9077:Vmn2r116
|
UTSW |
17 |
23,604,956 (GRCm39) |
missense |
probably benign |
0.14 |
R9223:Vmn2r116
|
UTSW |
17 |
23,620,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R9401:Vmn2r116
|
UTSW |
17 |
23,620,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R9449:Vmn2r116
|
UTSW |
17 |
23,605,919 (GRCm39) |
missense |
probably benign |
0.01 |
R9746:Vmn2r116
|
UTSW |
17 |
23,620,797 (GRCm39) |
missense |
probably benign |
0.08 |
R9755:Vmn2r116
|
UTSW |
17 |
23,620,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9759:Vmn2r116
|
UTSW |
17 |
23,620,360 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9800:Vmn2r116
|
UTSW |
17 |
23,620,399 (GRCm39) |
missense |
probably damaging |
0.97 |
S24628:Vmn2r116
|
UTSW |
17 |
23,606,253 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1176:Vmn2r116
|
UTSW |
17 |
23,620,402 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Vmn2r116
|
UTSW |
17 |
23,607,866 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTGTCAGTAAAATAGCTGAGGC -3'
(R):5'- TTTTAGCCAAGACAGTGGAGAG -3'
Sequencing Primer
(F):5'- GCTGAGGCTGCACTAACAATATCTTC -3'
(R):5'- CCAAATGTGAGTTGTTGTAGAATGC -3'
|
Posted On |
2016-10-24 |