Incidental Mutation 'R1766:Vmn2r116'
ID |
194415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r116
|
Ensembl Gene |
ENSMUSG00000090966 |
Gene Name |
vomeronasal 2, receptor 116 |
Synonyms |
V2Rp5, EG619697 |
MMRRC Submission |
039798-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1766 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 23620740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 825
(I825L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
AlphaFold |
E9Q6I0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: I825L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128106 Gene: ENSMUSG00000090966 AA Change: I825L
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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
Validation Efficiency |
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
C |
10: 42,330,491 (GRCm39) |
T59A |
probably benign |
Het |
Ankrd17 |
T |
A |
5: 90,412,656 (GRCm39) |
M1223L |
possibly damaging |
Het |
Ankrd24 |
G |
A |
10: 81,474,472 (GRCm39) |
S68N |
probably benign |
Het |
Arhgap31 |
A |
G |
16: 38,445,952 (GRCm39) |
I131T |
probably damaging |
Het |
Arhgef10 |
A |
T |
8: 15,029,836 (GRCm39) |
I874F |
probably damaging |
Het |
Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
BC051665 |
G |
A |
13: 60,932,854 (GRCm39) |
H36Y |
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,778,392 (GRCm39) |
D69G |
probably damaging |
Het |
Chd6 |
G |
A |
2: 160,808,559 (GRCm39) |
L1552F |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,556,191 (GRCm39) |
H584R |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,343,179 (GRCm39) |
V1508I |
possibly damaging |
Het |
Dpy19l4 |
C |
T |
4: 11,303,360 (GRCm39) |
G187D |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,015,526 (GRCm39) |
|
probably null |
Het |
Ehbp1l1 |
A |
G |
19: 5,766,434 (GRCm39) |
V1303A |
probably damaging |
Het |
Eif4e1b |
G |
A |
13: 54,934,704 (GRCm39) |
E182K |
probably damaging |
Het |
Fam170b |
A |
T |
14: 32,557,843 (GRCm39) |
Q226L |
possibly damaging |
Het |
Fam193a |
C |
T |
5: 34,619,475 (GRCm39) |
P760L |
probably damaging |
Het |
Gabra5 |
A |
T |
7: 57,157,796 (GRCm39) |
L6H |
probably benign |
Het |
Gabrq |
G |
A |
X: 71,876,989 (GRCm39) |
R161H |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm7334 |
T |
A |
17: 51,006,006 (GRCm39) |
D97E |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,215,395 (GRCm39) |
A286T |
probably damaging |
Het |
Gsta4 |
C |
A |
9: 78,111,611 (GRCm39) |
Y79* |
probably null |
Het |
Hcn1 |
T |
A |
13: 117,793,270 (GRCm39) |
V174D |
probably benign |
Het |
Hic1 |
G |
T |
11: 75,056,620 (GRCm39) |
C756* |
probably null |
Het |
Hivep3 |
C |
T |
4: 119,953,868 (GRCm39) |
T728I |
probably benign |
Het |
Ice1 |
T |
C |
13: 70,752,561 (GRCm39) |
E1175G |
possibly damaging |
Het |
Igsf3 |
T |
A |
3: 101,338,598 (GRCm39) |
L304Q |
probably damaging |
Het |
Kpna6 |
T |
C |
4: 129,551,235 (GRCm39) |
D90G |
probably benign |
Het |
Krt73 |
C |
T |
15: 101,702,363 (GRCm39) |
G500D |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,535,119 (GRCm39) |
K156E |
probably damaging |
Het |
Mdm2 |
T |
C |
10: 117,531,927 (GRCm39) |
K94E |
probably damaging |
Het |
Mitf |
T |
C |
6: 97,918,060 (GRCm39) |
S26P |
probably damaging |
Het |
Myh4 |
C |
A |
11: 67,147,121 (GRCm39) |
Q1589K |
possibly damaging |
Het |
Nlrp4c |
T |
A |
7: 6,076,113 (GRCm39) |
V671E |
probably benign |
Het |
Nop9 |
C |
T |
14: 55,989,591 (GRCm39) |
A407V |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,323,474 (GRCm39) |
H1366L |
probably damaging |
Het |
Ntrk1 |
A |
T |
3: 87,685,825 (GRCm39) |
C766S |
probably damaging |
Het |
Oog3 |
C |
T |
4: 143,885,692 (GRCm39) |
G302D |
possibly damaging |
Het |
Or4q3 |
T |
C |
14: 50,583,677 (GRCm39) |
Y43C |
probably damaging |
Het |
Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
Or6c38 |
T |
C |
10: 128,929,616 (GRCm39) |
I76V |
probably benign |
Het |
Or7g27 |
A |
G |
9: 19,250,154 (GRCm39) |
T133A |
probably benign |
Het |
Pdzph1 |
C |
T |
17: 59,280,747 (GRCm39) |
V512I |
probably benign |
Het |
Phf2 |
A |
C |
13: 48,973,033 (GRCm39) |
S408A |
unknown |
Het |
Pigk |
T |
G |
3: 152,445,793 (GRCm39) |
L135V |
probably damaging |
Het |
Ppp2ca |
C |
A |
11: 52,012,773 (GRCm39) |
T301N |
probably benign |
Het |
Ppp4r3a |
A |
G |
12: 101,024,741 (GRCm39) |
S253P |
probably damaging |
Het |
Ptgfrn |
A |
T |
3: 100,957,438 (GRCm39) |
I712N |
probably benign |
Het |
Rapgef2 |
A |
T |
3: 79,000,010 (GRCm39) |
D579E |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,325,976 (GRCm39) |
D769E |
probably damaging |
Het |
Rptor |
T |
A |
11: 119,615,887 (GRCm39) |
C134S |
probably damaging |
Het |
S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
Scube1 |
T |
A |
15: 83,606,146 (GRCm39) |
D42V |
probably damaging |
Het |
Sh3glb1 |
T |
C |
3: 144,418,446 (GRCm39) |
D39G |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,261,689 (GRCm39) |
T397A |
probably benign |
Het |
Siglece |
G |
A |
7: 43,300,956 (GRCm39) |
T453M |
probably damaging |
Het |
Slc26a1 |
G |
A |
5: 108,819,658 (GRCm39) |
R514W |
probably damaging |
Het |
Slc4a8 |
T |
C |
15: 100,685,093 (GRCm39) |
V156A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,698,374 (GRCm39) |
V1134E |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
Sorcs3 |
G |
T |
19: 48,592,314 (GRCm39) |
W326C |
possibly damaging |
Het |
Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
Tex16 |
T |
C |
X: 111,150,782 (GRCm39) |
Y22H |
probably benign |
Het |
Tiparp |
A |
T |
3: 65,439,470 (GRCm39) |
H80L |
probably damaging |
Het |
Tmem71 |
T |
A |
15: 66,413,548 (GRCm39) |
T175S |
probably benign |
Het |
Tmem87b |
T |
A |
2: 128,681,090 (GRCm39) |
V338D |
probably damaging |
Het |
Trdn |
A |
G |
10: 33,240,004 (GRCm39) |
K445R |
probably damaging |
Het |
Trim14 |
A |
G |
4: 46,522,039 (GRCm39) |
F213L |
probably benign |
Het |
Tubgcp5 |
T |
A |
7: 55,464,768 (GRCm39) |
S550T |
probably benign |
Het |
Tufm |
A |
G |
7: 126,089,644 (GRCm39) |
D446G |
probably benign |
Het |
Vipr1 |
A |
T |
9: 121,490,485 (GRCm39) |
Y177F |
possibly damaging |
Het |
Vmn2r12 |
G |
T |
5: 109,239,910 (GRCm39) |
Q218K |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,242,919 (GRCm39) |
|
probably null |
Het |
Ywhae |
T |
C |
11: 75,646,491 (GRCm39) |
V119A |
probably damaging |
Het |
Zfand5 |
A |
G |
19: 21,257,888 (GRCm39) |
R199G |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
Zrsr2-ps1 |
A |
G |
11: 22,923,637 (GRCm39) |
D137G |
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 |
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 |
PCR Primer
(F):5'- TGGACAGATCATCATTGTATGCCACAAG -3'
(R):5'- ACTCCCGTAACTCTTAGAATGGATCAGG -3'
Sequencing Primer
(F):5'- TATGCCACAAGGGTTCAGTC -3'
(R):5'- CAGTGAGAGTTATTCCAAAACCAG -3'
|
Posted On |
2014-05-23 |