Incidental Mutation 'R0635:Vmn2r116'
ID |
67047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r116
|
Ensembl Gene |
ENSMUSG00000090966 |
Gene Name |
vomeronasal 2, receptor 116 |
Synonyms |
V2Rp5, EG619697 |
MMRRC Submission |
038824-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0635 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23605861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 258
(Y258N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
AlphaFold |
E9Q6I0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164856
AA Change: Y258N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128106 Gene: ENSMUSG00000090966 AA Change: Y258N
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
99% (68/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,264,891 (GRCm39) |
|
probably benign |
Het |
Adamts15 |
A |
G |
9: 30,816,066 (GRCm39) |
L631P |
probably damaging |
Het |
Adamts17 |
T |
C |
7: 66,558,353 (GRCm39) |
F266L |
probably damaging |
Het |
Adgrb1 |
C |
A |
15: 74,412,741 (GRCm39) |
Q488K |
possibly damaging |
Het |
Armh4 |
A |
G |
14: 50,010,600 (GRCm39) |
L369S |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,328,538 (GRCm39) |
D109G |
probably damaging |
Het |
Chil5 |
A |
T |
3: 105,924,519 (GRCm39) |
Y229N |
possibly damaging |
Het |
Cntnap1 |
A |
G |
11: 101,074,285 (GRCm39) |
T742A |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,735,808 (GRCm39) |
|
probably null |
Het |
Col6a5 |
G |
A |
9: 105,805,805 (GRCm39) |
P1034S |
unknown |
Het |
Daxx |
T |
A |
17: 34,131,618 (GRCm39) |
D442E |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,984,490 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,971,731 (GRCm39) |
F2942S |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,895,924 (GRCm39) |
T240A |
probably benign |
Het |
Glg1 |
A |
G |
8: 111,890,396 (GRCm39) |
|
probably benign |
Het |
Gm10272 |
G |
A |
10: 77,542,535 (GRCm39) |
|
probably benign |
Het |
Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
Haao |
A |
G |
17: 84,146,003 (GRCm39) |
F83S |
probably damaging |
Het |
Hdgfl2 |
T |
A |
17: 56,403,057 (GRCm39) |
L177Q |
probably damaging |
Het |
Hrh1 |
T |
C |
6: 114,457,106 (GRCm39) |
V129A |
probably damaging |
Het |
Ift43 |
T |
A |
12: 86,131,855 (GRCm39) |
|
probably benign |
Het |
Il21r |
T |
C |
7: 125,231,678 (GRCm39) |
Y369H |
probably damaging |
Het |
Il2ra |
C |
T |
2: 11,685,177 (GRCm39) |
T171M |
probably benign |
Het |
Lao1 |
C |
T |
4: 118,825,493 (GRCm39) |
R438C |
probably benign |
Het |
Lrrcc1 |
G |
A |
3: 14,624,288 (GRCm39) |
S350N |
probably benign |
Het |
Mageb5 |
T |
A |
X: 90,823,599 (GRCm39) |
Y260F |
probably benign |
Het |
Marchf5 |
A |
T |
19: 37,197,807 (GRCm39) |
I159F |
possibly damaging |
Het |
Mgat4a |
G |
A |
1: 37,491,375 (GRCm39) |
A282V |
probably benign |
Het |
Mipep |
G |
A |
14: 61,066,839 (GRCm39) |
V420I |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,356,661 (GRCm39) |
F370L |
possibly damaging |
Het |
Mt1 |
A |
T |
8: 94,906,449 (GRCm39) |
|
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,149,999 (GRCm39) |
V943A |
probably benign |
Het |
Nkd2 |
T |
C |
13: 73,975,013 (GRCm39) |
D58G |
probably benign |
Het |
Nol8 |
C |
G |
13: 49,830,234 (GRCm39) |
S1106C |
probably benign |
Het |
Nrm |
C |
A |
17: 36,175,156 (GRCm39) |
Y61* |
probably null |
Het |
Nusap1 |
A |
G |
2: 119,458,148 (GRCm39) |
T95A |
probably damaging |
Het |
Ocln |
T |
A |
13: 100,642,744 (GRCm39) |
Q197L |
probably damaging |
Het |
Or5p70 |
T |
A |
7: 107,994,971 (GRCm39) |
F215I |
probably benign |
Het |
Oxtr |
A |
G |
6: 112,466,161 (GRCm39) |
Y200H |
probably damaging |
Het |
Paip2b |
T |
C |
6: 83,786,891 (GRCm39) |
E115G |
possibly damaging |
Het |
Pcm1 |
T |
A |
8: 41,720,216 (GRCm39) |
|
probably benign |
Het |
Pcnt |
T |
C |
10: 76,240,419 (GRCm39) |
D1205G |
probably damaging |
Het |
Phka1 |
G |
A |
X: 101,665,006 (GRCm39) |
R186C |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,946,271 (GRCm39) |
|
probably benign |
Het |
Pik3r1 |
C |
T |
13: 101,893,926 (GRCm39) |
R81K |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,501,219 (GRCm39) |
D162G |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,502,749 (GRCm39) |
R191G |
probably damaging |
Het |
Ppp4r3c2 |
T |
C |
X: 88,796,128 (GRCm39) |
|
probably benign |
Het |
Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
Rgr |
T |
A |
14: 36,760,904 (GRCm39) |
R218* |
probably null |
Het |
Rreb1 |
A |
T |
13: 38,125,540 (GRCm39) |
Q1282L |
possibly damaging |
Het |
Scel |
T |
A |
14: 103,820,575 (GRCm39) |
|
probably null |
Het |
Sema6b |
A |
G |
17: 56,436,971 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
T |
C |
11: 102,243,498 (GRCm39) |
E711G |
possibly damaging |
Het |
Snx19 |
C |
A |
9: 30,340,106 (GRCm39) |
L415M |
probably damaging |
Het |
Snx19 |
T |
G |
9: 30,340,107 (GRCm39) |
L415R |
probably damaging |
Het |
Specc1 |
G |
A |
11: 62,009,729 (GRCm39) |
R495Q |
probably damaging |
Het |
Tead1 |
T |
C |
7: 112,490,913 (GRCm39) |
|
probably benign |
Het |
Timm10b |
A |
C |
7: 105,289,895 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,186,235 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,460,383 (GRCm39) |
F570I |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,300,759 (GRCm39) |
V587A |
probably benign |
Het |
Zfp398 |
T |
C |
6: 47,840,074 (GRCm39) |
I101T |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,320,233 (GRCm39) |
H487Q |
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 |
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 |
|
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 |
|
Posted On |
2013-08-20 |