Incidental Mutation 'R7940:Vmn2r116'
| ID |
649028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
045986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23605946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 286
(M286K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: M286K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: M286K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (56/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
G |
7: 130,952,767 (GRCm39) |
M238T |
probably benign |
Het |
| Acacb |
C |
T |
5: 114,304,108 (GRCm39) |
S177F |
possibly damaging |
Het |
| Afap1l2 |
A |
G |
19: 56,902,597 (GRCm39) |
V822A |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,743,693 (GRCm39) |
P1170L |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,227,596 (GRCm39) |
I1234V |
probably damaging |
Het |
| Ascc1 |
G |
A |
10: 59,848,381 (GRCm39) |
V103M |
probably null |
Het |
| Brca2 |
C |
G |
5: 150,462,198 (GRCm39) |
T654S |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,972,899 (GRCm39) |
F410S |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,686,974 (GRCm39) |
N94K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cpe |
T |
A |
8: 65,047,945 (GRCm39) |
S440C |
probably damaging |
Het |
| Cspg4 |
C |
T |
9: 56,795,381 (GRCm39) |
Q1039* |
probably null |
Het |
| Cul5 |
A |
T |
9: 53,535,069 (GRCm39) |
S612T |
probably benign |
Het |
| Dapl1 |
T |
C |
2: 59,315,112 (GRCm39) |
|
probably null |
Het |
| Deptor |
C |
T |
15: 55,072,244 (GRCm39) |
T241M |
probably benign |
Het |
| Dnaaf1 |
A |
G |
8: 120,309,454 (GRCm39) |
T181A |
possibly damaging |
Het |
| Dnajc11 |
G |
T |
4: 152,053,045 (GRCm39) |
Q156H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,206,757 (GRCm39) |
V975A |
possibly damaging |
Het |
| Elf3 |
T |
A |
1: 135,184,866 (GRCm39) |
S107C |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,770,324 (GRCm39) |
D105V |
probably damaging |
Het |
| Fgd6 |
G |
A |
10: 93,956,344 (GRCm39) |
V1008I |
probably benign |
Het |
| Frmpd2 |
C |
T |
14: 33,276,850 (GRCm39) |
R1157* |
probably null |
Het |
| Gabrg2 |
A |
C |
11: 41,858,474 (GRCm39) |
V218G |
probably benign |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,953 (GRCm39) |
A328V |
probably damaging |
Het |
| Glis1 |
C |
G |
4: 107,489,571 (GRCm39) |
F719L |
probably damaging |
Het |
| Glis1 |
A |
T |
4: 107,489,572 (GRCm39) |
N720Y |
probably damaging |
Het |
| Grin2c |
G |
T |
11: 115,146,107 (GRCm39) |
A546D |
probably damaging |
Het |
| Gtf3c5 |
G |
A |
2: 28,458,592 (GRCm39) |
T433I |
possibly damaging |
Het |
| Jmjd6 |
C |
A |
11: 116,734,055 (GRCm39) |
|
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,106,891 (GRCm39) |
S49P |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,006,521 (GRCm39) |
K877* |
probably null |
Het |
| Lgr4 |
T |
A |
2: 109,836,858 (GRCm39) |
S397R |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,262,541 (GRCm39) |
I4420N |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,783,089 (GRCm39) |
K441E |
possibly damaging |
Het |
| Minpp1 |
A |
T |
19: 32,463,359 (GRCm39) |
S7C |
possibly damaging |
Het |
| Mrps9 |
T |
A |
1: 42,901,808 (GRCm39) |
D105E |
probably damaging |
Het |
| Ncoa1 |
C |
A |
12: 4,363,095 (GRCm39) |
A247S |
possibly damaging |
Het |
| Or52b4i |
G |
A |
7: 102,191,515 (GRCm39) |
R124H |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,120,496 (GRCm39) |
V47A |
probably benign |
Het |
| Pabir1 |
G |
A |
19: 24,454,552 (GRCm39) |
R57W |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,883,026 (GRCm39) |
K790E |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,430,022 (GRCm39) |
V1250I |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,153,409 (GRCm39) |
T43S |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,516,480 (GRCm39) |
R549C |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Polq |
T |
A |
16: 36,881,004 (GRCm39) |
M1056K |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,803,793 (GRCm39) |
N455K |
probably benign |
Het |
| Rhbdf1 |
T |
A |
11: 32,166,258 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rspry1 |
G |
T |
8: 95,349,635 (GRCm39) |
V8L |
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,436,666 (GRCm39) |
V249A |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,046 (GRCm39) |
H402L |
possibly damaging |
Het |
| Supt20 |
A |
T |
3: 54,620,620 (GRCm39) |
N393I |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,528,993 (GRCm39) |
K102E |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,798 (GRCm39) |
Y353C |
probably damaging |
Het |
| Usp24 |
A |
T |
4: 106,287,741 (GRCm39) |
Q2465L |
probably damaging |
Het |
| Wnt16 |
C |
A |
6: 22,291,188 (GRCm39) |
N205K |
possibly damaging |
Het |
| Xkr7 |
C |
A |
2: 152,874,135 (GRCm39) |
F67L |
probably damaging |
Het |
| Zfp473 |
T |
G |
7: 44,384,000 (GRCm39) |
E111A |
probably damaging |
Het |
| Zfp74 |
T |
C |
7: 29,631,867 (GRCm39) |
K126E |
probably benign |
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 |
|
R5538:Vmn2r116
|
UTSW |
17 |
23,620,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- TAGGGTTGGTCATCTCAGACAG -3'
(R):5'- TTGACAGAGTTCAATGTCTGGAC -3'
Sequencing Primer
(F):5'- GTTGGTCATCTCAGACAGTGATCAAG -3'
(R):5'- GTCTGGACAAAATGTTTAAACCCAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation