Incidental Mutation 'R0219:Vmn2r116'
| ID |
66312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
038468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 23605072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 128
(Y128*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000164856
AA Change: Y128*
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: Y128*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.3%
|
| Validation Efficiency |
98% (65/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,849,885 (GRCm39) |
|
probably benign |
Het |
| Acacb |
T |
A |
5: 114,371,005 (GRCm39) |
M1749K |
possibly damaging |
Het |
| Aff1 |
GCTCTCTCTC |
GCTCTCTCTCTC |
5: 103,958,906 (GRCm39) |
|
probably benign |
Het |
| Ankle2 |
C |
T |
5: 110,399,511 (GRCm39) |
R624* |
probably null |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,446,640 (GRCm39) |
|
probably benign |
Het |
| Ccdc116 |
T |
A |
16: 16,959,476 (GRCm39) |
R404S |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,614,678 (GRCm39) |
|
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,916,846 (GRCm39) |
K534R |
probably damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,348 (GRCm39) |
I112V |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,801,558 (GRCm39) |
L795R |
possibly damaging |
Het |
| Cilp |
C |
A |
9: 65,176,872 (GRCm39) |
L43I |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,720,976 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
C |
A |
1: 136,360,047 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,865,996 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,658,384 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,342,559 (GRCm39) |
S5030A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,106,443 (GRCm39) |
|
probably benign |
Het |
| Farp1 |
C |
A |
14: 121,481,012 (GRCm39) |
P471Q |
possibly damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fcer1g |
A |
G |
1: 171,058,795 (GRCm39) |
V31A |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,717,618 (GRCm39) |
V21A |
probably benign |
Het |
| Gm9912 |
T |
C |
3: 148,891,131 (GRCm39) |
I1V |
unknown |
Het |
| Guf1 |
G |
A |
5: 69,716,929 (GRCm39) |
A164T |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,876 (GRCm39) |
H147R |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,474 (GRCm39) |
|
probably benign |
Het |
| Iglon5 |
A |
T |
7: 43,126,261 (GRCm39) |
V214E |
probably damaging |
Het |
| Isx |
C |
A |
8: 75,616,589 (GRCm39) |
|
probably null |
Het |
| Kank4 |
T |
C |
4: 98,666,702 (GRCm39) |
N582D |
probably benign |
Het |
| Kcp |
T |
A |
6: 29,495,784 (GRCm39) |
R773W |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,291,857 (GRCm39) |
C825R |
probably damaging |
Het |
| Krt25 |
G |
A |
11: 99,208,885 (GRCm39) |
T315M |
probably benign |
Het |
| Lrp5 |
A |
T |
19: 3,647,349 (GRCm39) |
S1298T |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,356,156 (GRCm39) |
D921G |
probably damaging |
Het |
| Mrgprx1 |
C |
A |
7: 47,671,294 (GRCm39) |
W151L |
probably damaging |
Het |
| Mylk3 |
T |
A |
8: 86,081,873 (GRCm39) |
D375V |
probably damaging |
Het |
| Nav3 |
C |
T |
10: 109,702,791 (GRCm39) |
|
probably null |
Het |
| Ncan |
A |
G |
8: 70,567,984 (GRCm39) |
S43P |
probably benign |
Het |
| Necab3 |
G |
T |
2: 154,388,013 (GRCm39) |
Q292K |
probably benign |
Het |
| Nptx2 |
T |
C |
5: 144,484,950 (GRCm39) |
S148P |
probably damaging |
Het |
| Or2at4 |
A |
T |
7: 99,385,135 (GRCm39) |
I262L |
probably benign |
Het |
| Or6p1 |
G |
A |
1: 174,258,032 (GRCm39) |
V13I |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,419,006 (GRCm39) |
E794G |
possibly damaging |
Het |
| Pus7 |
T |
C |
5: 23,980,964 (GRCm39) |
Y133C |
possibly damaging |
Het |
| Rad21l |
A |
G |
2: 151,496,508 (GRCm39) |
|
probably benign |
Het |
| Rptor |
A |
T |
11: 119,712,603 (GRCm39) |
|
probably benign |
Het |
| Sart1 |
C |
A |
19: 5,438,424 (GRCm39) |
A78S |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,051,486 (GRCm39) |
E191G |
probably benign |
Het |
| Slc6a18 |
A |
T |
13: 73,822,751 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
T |
C |
10: 9,646,272 (GRCm39) |
T147A |
probably benign |
Het |
| Sv2b |
A |
G |
7: 74,807,015 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,088,778 (GRCm39) |
K5045N |
probably damaging |
Het |
| Tmem174 |
A |
C |
13: 98,773,347 (GRCm39) |
M161R |
possibly damaging |
Het |
| Tmprss7 |
A |
G |
16: 45,476,820 (GRCm39) |
V814A |
probably damaging |
Het |
| Togaram2 |
T |
C |
17: 72,021,225 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
C |
1: 150,319,009 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,572 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,157,568 (GRCm39) |
L2375Q |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,600,537 (GRCm39) |
E1987G |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,560,195 (GRCm39) |
T1365A |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,411,734 (GRCm39) |
V278A |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,832,479 (GRCm39) |
S2809N |
probably benign |
Het |
| Zfp212 |
G |
A |
6: 47,903,619 (GRCm39) |
R68H |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,253,160 (GRCm39) |
L33Q |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,211,255 (GRCm39) |
S185G |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,831,508 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
2013-08-19 |
Incidental Mutation