Incidental Mutation 'R5510:Vmn2r116'
| ID |
431185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
043071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5510 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23386121 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 136
(C136Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: C136Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: C136Y
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.1%
|
| Validation Efficiency |
99% (91/92) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011I03Rik |
G |
A |
18: 57,538,084 (GRCm38) |
|
probably null |
Het |
| 1700014D04Rik |
T |
C |
13: 59,742,420 (GRCm38) |
|
probably null |
Het |
| Adgrl4 |
T |
G |
3: 151,497,830 (GRCm38) |
I59R |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,445,244 (GRCm38) |
D4208V |
probably damaging |
Het |
| Aimp2 |
A |
T |
5: 143,906,529 (GRCm38) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 70,002,565 (GRCm38) |
R1566K |
possibly damaging |
Het |
| Ankib1 |
A |
G |
5: 3,729,693 (GRCm38) |
V392A |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,336,737 (GRCm38) |
|
probably null |
Het |
| Arsg |
A |
G |
11: 109,527,874 (GRCm38) |
E232G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,335,350 (GRCm38) |
F144S |
probably benign |
Het |
| Bud13 |
T |
A |
9: 46,292,200 (GRCm38) |
M111K |
probably damaging |
Het |
| Cav2 |
T |
C |
6: 17,287,013 (GRCm38) |
F152S |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,928,046 (GRCm38) |
T1194A |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,945,031 (GRCm38) |
K848R |
probably damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,672,099 (GRCm38) |
W176R |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,682,903 (GRCm38) |
D136E |
probably benign |
Het |
| Dclk2 |
T |
C |
3: 86,906,037 (GRCm38) |
I201V |
possibly damaging |
Het |
| Defa24 |
T |
A |
8: 21,734,596 (GRCm38) |
D20E |
probably damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,277,175 (GRCm38) |
N566D |
probably damaging |
Het |
| Dido1 |
C |
A |
2: 180,685,173 (GRCm38) |
V386L |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,458,920 (GRCm38) |
R2399Q |
probably benign |
Het |
| Dtx3 |
G |
A |
10: 127,192,938 (GRCm38) |
P141S |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,596,369 (GRCm38) |
Y1144H |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,734,113 (GRCm38) |
L535P |
probably damaging |
Het |
| Gimap3 |
T |
A |
6: 48,765,249 (GRCm38) |
E249V |
possibly damaging |
Het |
| Git2 |
A |
T |
5: 114,743,774 (GRCm38) |
|
probably null |
Het |
| Gm4922 |
T |
C |
10: 18,783,997 (GRCm38) |
T326A |
probably benign |
Het |
| Gsdmc2 |
T |
G |
15: 63,828,196 (GRCm38) |
E242D |
probably benign |
Het |
| Hdgfl2 |
G |
A |
17: 56,082,118 (GRCm38) |
G31S |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 56,206,771 (GRCm38) |
I3956F |
probably damaging |
Het |
| Hsf2bp |
G |
A |
17: 31,946,747 (GRCm38) |
R134C |
unknown |
Het |
| Igf1r |
G |
C |
7: 68,193,359 (GRCm38) |
R739S |
probably benign |
Het |
| Igkv4-51 |
T |
C |
6: 69,681,459 (GRCm38) |
E102G |
probably damaging |
Het |
| Kif1a |
T |
G |
1: 93,041,692 (GRCm38) |
I1156L |
possibly damaging |
Het |
| Kti12 |
T |
C |
4: 108,848,624 (GRCm38) |
L245S |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,270,404 (GRCm38) |
S17P |
probably benign |
Het |
| Mllt6 |
G |
A |
11: 97,669,500 (GRCm38) |
S210N |
possibly damaging |
Het |
| Mrps18b |
A |
G |
17: 35,914,323 (GRCm38) |
|
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,079,464 (GRCm38) |
S85P |
probably benign |
Het |
| Msln |
T |
C |
17: 25,749,873 (GRCm38) |
Q487R |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,337,723 (GRCm38) |
N363S |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,245,660 (GRCm38) |
F192L |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,814,020 (GRCm38) |
D688G |
probably damaging |
Het |
| Nsun4 |
C |
T |
4: 116,051,777 (GRCm38) |
V529I |
possibly damaging |
Het |
| Olfr105-ps |
A |
T |
17: 37,383,301 (GRCm38) |
M245L |
probably benign |
Het |
| Olfr345 |
G |
A |
2: 36,640,963 (GRCm38) |
R308K |
probably benign |
Het |
| Olfr495 |
G |
A |
7: 108,395,125 (GRCm38) |
A2T |
probably benign |
Het |
| Phf11a |
C |
A |
14: 59,279,385 (GRCm38) |
C208F |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,566,847 (GRCm38) |
C520Y |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,178,358 (GRCm38) |
M1550I |
probably damaging |
Het |
| Pnpla6 |
A |
T |
8: 3,521,397 (GRCm38) |
Y140F |
probably damaging |
Het |
| Ppp1r12a |
T |
A |
10: 108,249,627 (GRCm38) |
S478T |
possibly damaging |
Het |
| Prkcz |
C |
A |
4: 155,272,936 (GRCm38) |
|
probably null |
Het |
| Prss55 |
T |
A |
14: 64,077,125 (GRCm38) |
M199L |
probably damaging |
Het |
| Qrich1 |
G |
A |
9: 108,556,460 (GRCm38) |
V651I |
possibly damaging |
Het |
| Ralyl |
T |
C |
3: 13,776,945 (GRCm38) |
V47A |
probably damaging |
Het |
| Raph1 |
A |
T |
1: 60,522,946 (GRCm38) |
|
probably benign |
Het |
| Rgs12 |
T |
C |
5: 34,966,039 (GRCm38) |
Y389H |
probably damaging |
Het |
| Sec24b |
C |
A |
3: 130,040,895 (GRCm38) |
G82V |
probably damaging |
Het |
| Sema4a |
A |
G |
3: 88,449,986 (GRCm38) |
|
probably null |
Het |
| Slc25a11 |
A |
T |
11: 70,645,535 (GRCm38) |
W149R |
probably damaging |
Het |
| Slc2a7 |
T |
G |
4: 150,160,094 (GRCm38) |
S340A |
probably benign |
Het |
| Slc32a1 |
T |
A |
2: 158,614,796 (GRCm38) |
M457K |
probably damaging |
Het |
| Spint4 |
C |
T |
2: 164,700,892 (GRCm38) |
T135M |
probably damaging |
Het |
| Sult2a2 |
A |
C |
7: 13,738,303 (GRCm38) |
N142H |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,333,395 (GRCm38) |
G863D |
probably damaging |
Het |
| Tmem156 |
G |
A |
5: 65,075,574 (GRCm38) |
T151M |
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,768,680 (GRCm38) |
Q459R |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 10,102,618 (GRCm38) |
V79M |
possibly damaging |
Het |
| Vmn2r67 |
A |
T |
7: 85,151,815 (GRCm38) |
D304E |
probably benign |
Het |
| Wdr93 |
T |
A |
7: 79,750,031 (GRCm38) |
F123I |
probably damaging |
Het |
| Zfp672 |
A |
T |
11: 58,316,630 (GRCm38) |
C288* |
probably null |
Het |
| Zp1 |
T |
C |
19: 10,919,405 (GRCm38) |
Y90C |
probably damaging |
Het |
|
| Other mutations in Vmn2r116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Vmn2r116
|
APN |
17 |
23,385,995 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00985:Vmn2r116
|
APN |
17 |
23,401,515 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,387,236 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,397,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01383:Vmn2r116
|
APN |
17 |
23,401,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01459:Vmn2r116
|
APN |
17 |
23,384,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01725:Vmn2r116
|
APN |
17 |
23,386,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Vmn2r116
|
APN |
17 |
23,397,627 (GRCm38) |
splice site |
probably benign |
|
|
IGL02170:Vmn2r116
|
APN |
17 |
23,384,933 (GRCm38) |
missense |
probably benign |
|
|
IGL02209:Vmn2r116
|
APN |
17 |
23,388,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02226:Vmn2r116
|
APN |
17 |
23,384,834 (GRCm38) |
missense |
probably null |
|
|
IGL02272:Vmn2r116
|
APN |
17 |
23,386,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Vmn2r116
|
APN |
17 |
23,385,999 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02403:Vmn2r116
|
APN |
17 |
23,387,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02686:Vmn2r116
|
APN |
17 |
23,388,793 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02750:Vmn2r116
|
APN |
17 |
23,397,634 (GRCm38) |
splice site |
probably benign |
|
|
IGL02977:Vmn2r116
|
APN |
17 |
23,388,774 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
PIT4449001:Vmn2r116
|
UTSW |
17 |
23,388,947 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0015:Vmn2r116
|
UTSW |
17 |
23,401,849 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0219:Vmn2r116
|
UTSW |
17 |
23,386,098 (GRCm38) |
nonsense |
probably null |
|
|
R0281:Vmn2r116
|
UTSW |
17 |
23,401,413 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0415:Vmn2r116
|
UTSW |
17 |
23,387,279 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0592:Vmn2r116
|
UTSW |
17 |
23,386,915 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0610:Vmn2r116
|
UTSW |
17 |
23,387,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0635:Vmn2r116
|
UTSW |
17 |
23,386,887 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0843:Vmn2r116
|
UTSW |
17 |
23,400,960 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1329:Vmn2r116
|
UTSW |
17 |
23,387,188 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1396:Vmn2r116
|
UTSW |
17 |
23,386,141 (GRCm38) |
missense |
probably benign |
|
|
R1401:Vmn2r116
|
UTSW |
17 |
23,386,596 (GRCm38) |
splice site |
probably benign |
|
|
R1574:Vmn2r116
|
UTSW |
17 |
23,387,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn2r116
|
UTSW |
17 |
23,387,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1766:Vmn2r116
|
UTSW |
17 |
23,401,766 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2157:Vmn2r116
|
UTSW |
17 |
23,401,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3622:Vmn2r116
|
UTSW |
17 |
23,386,051 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3690:Vmn2r116
|
UTSW |
17 |
23,384,824 (GRCm38) |
missense |
unknown |
|
|
R4298:Vmn2r116
|
UTSW |
17 |
23,401,827 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4373:Vmn2r116
|
UTSW |
17 |
23,401,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4860:Vmn2r116
|
UTSW |
17 |
23,401,803 (GRCm38) |
missense |
probably benign |
|
|
R4941:Vmn2r116
|
UTSW |
17 |
23,401,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5119:Vmn2r116
|
UTSW |
17 |
23,387,164 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5503:Vmn2r116
|
UTSW |
17 |
23,386,804 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5538:Vmn2r116
|
UTSW |
17 |
23,401,067 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5689:Vmn2r116
|
UTSW |
17 |
23,397,719 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5765:Vmn2r116
|
UTSW |
17 |
23,401,404 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5794:Vmn2r116
|
UTSW |
17 |
23,385,968 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5807:Vmn2r116
|
UTSW |
17 |
23,387,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5837:Vmn2r116
|
UTSW |
17 |
23,387,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6262:Vmn2r116
|
UTSW |
17 |
23,387,377 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6298:Vmn2r116
|
UTSW |
17 |
23,386,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6651:Vmn2r116
|
UTSW |
17 |
23,388,831 (GRCm38) |
nonsense |
probably null |
|
|
R6667:Vmn2r116
|
UTSW |
17 |
23,401,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7393:Vmn2r116
|
UTSW |
17 |
23,386,125 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7571:Vmn2r116
|
UTSW |
17 |
23,384,856 (GRCm38) |
splice site |
probably null |
|
|
R7940:Vmn2r116
|
UTSW |
17 |
23,386,972 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8510:Vmn2r116
|
UTSW |
17 |
23,385,931 (GRCm38) |
nonsense |
probably null |
|
|
R8950:Vmn2r116
|
UTSW |
17 |
23,401,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8956:Vmn2r116
|
UTSW |
17 |
23,386,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8977:Vmn2r116
|
UTSW |
17 |
23,386,942 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9030:Vmn2r116
|
UTSW |
17 |
23,384,890 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9077:Vmn2r116
|
UTSW |
17 |
23,385,982 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9223:Vmn2r116
|
UTSW |
17 |
23,401,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9401:Vmn2r116
|
UTSW |
17 |
23,401,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9449:Vmn2r116
|
UTSW |
17 |
23,386,945 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9746:Vmn2r116
|
UTSW |
17 |
23,401,823 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9755:Vmn2r116
|
UTSW |
17 |
23,401,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9759:Vmn2r116
|
UTSW |
17 |
23,401,386 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9800:Vmn2r116
|
UTSW |
17 |
23,401,425 (GRCm38) |
missense |
probably damaging |
0.97 |
|
S24628:Vmn2r116
|
UTSW |
17 |
23,387,279 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
Z1176:Vmn2r116
|
UTSW |
17 |
23,401,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r116
|
UTSW |
17 |
23,388,892 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACAGGAACCCTGATCTTTTG -3'
(R):5'- TATTTGCTCAGGCCCAGTAAGGT -3'
Sequencing Primer
(F):5'- ATTCTCAGCAGACAGTTGTG -3'
(R):5'- CATGCTGGCACTAGAGATAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation