Incidental Mutation 'R0608:Vmn2r100'
ID |
54451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r100
|
Ensembl Gene |
ENSMUSG00000091859 |
Gene Name |
vomeronasal 2, receptor 100 |
Synonyms |
EG627537 |
MMRRC Submission |
038797-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R0608 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
19725073-19752322 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 19742382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 252
(P252Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166081]
[ENSMUST00000231465]
|
AlphaFold |
E9QAZ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166081
AA Change: P252Q
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128350 Gene: ENSMUSG00000091859 AA Change: P252Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
83 |
456 |
7.4e-41 |
PFAM |
Pfam:NCD3G
|
510 |
563 |
1.9e-21 |
PFAM |
Pfam:7tm_3
|
594 |
831 |
2.6e-51 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231465
AA Change: P252Q
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
A |
G |
14: 78,748,193 (GRCm39) |
V1398A |
probably benign |
Het |
Ampd3 |
C |
A |
7: 110,394,997 (GRCm39) |
D315E |
probably damaging |
Het |
Ampd3 |
T |
A |
7: 110,394,998 (GRCm39) |
F316I |
probably damaging |
Het |
Arhgef40 |
A |
C |
14: 52,234,431 (GRCm39) |
E911D |
probably damaging |
Het |
Atxn2l |
A |
G |
7: 126,100,588 (GRCm39) |
|
probably null |
Het |
Bckdhb |
T |
G |
9: 83,835,789 (GRCm39) |
F98V |
probably damaging |
Het |
Calhm1 |
C |
T |
19: 47,132,280 (GRCm39) |
V112I |
probably benign |
Het |
Ccdc28a |
G |
A |
10: 18,100,699 (GRCm39) |
R90C |
probably damaging |
Het |
Cdc40 |
A |
T |
10: 40,724,048 (GRCm39) |
Y247N |
probably benign |
Het |
Cds1 |
G |
A |
5: 101,962,299 (GRCm39) |
V305M |
probably damaging |
Het |
Cep128 |
T |
G |
12: 90,966,309 (GRCm39) |
|
probably benign |
Het |
Cep72 |
A |
T |
13: 74,186,423 (GRCm39) |
H249Q |
probably damaging |
Het |
Cfap70 |
A |
T |
14: 20,498,631 (GRCm39) |
Y19N |
probably damaging |
Het |
Col11a1 |
T |
C |
3: 114,012,364 (GRCm39) |
|
probably benign |
Het |
Cstdc6 |
T |
C |
16: 36,143,386 (GRCm39) |
|
probably null |
Het |
Cysltr1 |
A |
G |
X: 105,622,261 (GRCm39) |
V75A |
possibly damaging |
Het |
Dnaaf11 |
T |
A |
15: 66,252,323 (GRCm39) |
M448L |
probably benign |
Het |
Dnah17 |
G |
T |
11: 117,981,575 (GRCm39) |
Y1716* |
probably null |
Het |
Dnm1 |
T |
C |
2: 32,225,836 (GRCm39) |
E383G |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,329,437 (GRCm39) |
|
probably null |
Het |
Edil3 |
T |
C |
13: 89,332,968 (GRCm39) |
S375P |
probably damaging |
Het |
Eme1 |
A |
G |
11: 94,540,908 (GRCm39) |
C277R |
probably damaging |
Het |
Enam |
T |
C |
5: 88,640,886 (GRCm39) |
W183R |
possibly damaging |
Het |
Fbxl6 |
C |
T |
15: 76,420,953 (GRCm39) |
V341M |
probably benign |
Het |
Fgf14 |
A |
G |
14: 124,914,015 (GRCm39) |
S39P |
probably damaging |
Het |
Fmo4 |
C |
T |
1: 162,631,220 (GRCm39) |
R249H |
possibly damaging |
Het |
Gle1 |
T |
A |
2: 29,830,240 (GRCm39) |
D265E |
probably benign |
Het |
Gml2 |
T |
C |
15: 74,693,235 (GRCm39) |
|
probably null |
Het |
Golgb1 |
G |
T |
16: 36,736,692 (GRCm39) |
E1980* |
probably null |
Het |
Hap1 |
A |
G |
11: 100,240,131 (GRCm39) |
L555P |
probably damaging |
Het |
Heca |
T |
C |
10: 17,791,039 (GRCm39) |
D339G |
possibly damaging |
Het |
Hepacam2 |
T |
C |
6: 3,483,479 (GRCm39) |
T101A |
possibly damaging |
Het |
Ift88 |
T |
C |
14: 57,733,678 (GRCm39) |
V707A |
probably benign |
Het |
Kdm3a |
C |
T |
6: 71,597,030 (GRCm39) |
G252D |
probably benign |
Het |
Klhl11 |
A |
G |
11: 100,363,068 (GRCm39) |
Y163H |
probably damaging |
Het |
Kntc1 |
A |
T |
5: 123,924,137 (GRCm39) |
N1008Y |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,316,587 (GRCm39) |
N2131K |
probably benign |
Het |
Magi3 |
C |
G |
3: 103,924,873 (GRCm39) |
G1092A |
probably damaging |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Minar2 |
A |
G |
18: 59,195,531 (GRCm39) |
|
probably null |
Het |
Mrps26 |
G |
T |
2: 130,405,778 (GRCm39) |
R27L |
possibly damaging |
Het |
Myof |
T |
C |
19: 37,904,952 (GRCm39) |
D1624G |
probably damaging |
Het |
Naif1 |
T |
C |
2: 32,344,908 (GRCm39) |
M204T |
probably benign |
Het |
Ndufb8 |
T |
C |
19: 44,538,784 (GRCm39) |
E179G |
possibly damaging |
Het |
Neb |
A |
T |
2: 52,216,769 (GRCm39) |
D135E |
probably benign |
Het |
Nlrp6 |
C |
T |
7: 140,503,399 (GRCm39) |
Q502* |
probably null |
Het |
Nploc4 |
A |
G |
11: 120,304,507 (GRCm39) |
L238P |
probably damaging |
Het |
Obi1 |
T |
C |
14: 104,716,963 (GRCm39) |
Y470C |
probably damaging |
Het |
Or4d2 |
G |
A |
11: 87,784,022 (GRCm39) |
H243Y |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
Pdgfra |
T |
C |
5: 75,324,438 (GRCm39) |
Y98H |
probably damaging |
Het |
Plcz1 |
C |
T |
6: 139,936,459 (GRCm39) |
R590H |
probably damaging |
Het |
Pnliprp1 |
T |
A |
19: 58,726,628 (GRCm39) |
Y328* |
probably null |
Het |
Pnpla8 |
C |
T |
12: 44,330,246 (GRCm39) |
P48L |
probably benign |
Het |
Rab44 |
T |
A |
17: 29,366,317 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
T |
C |
10: 58,329,720 (GRCm39) |
I3031T |
probably damaging |
Het |
Sbno1 |
T |
C |
5: 124,522,604 (GRCm39) |
D1072G |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,944,236 (GRCm39) |
T187A |
possibly damaging |
Het |
Serpinh1 |
A |
G |
7: 98,998,601 (GRCm39) |
C10R |
unknown |
Het |
Sh2d4a |
A |
G |
8: 68,799,346 (GRCm39) |
Y405C |
possibly damaging |
Het |
Slc26a7 |
T |
C |
4: 14,621,317 (GRCm39) |
D23G |
probably benign |
Het |
Slc7a7 |
A |
G |
14: 54,615,259 (GRCm39) |
L246P |
probably damaging |
Het |
Spire1 |
T |
C |
18: 67,661,945 (GRCm39) |
R163G |
probably damaging |
Het |
Stxbp2 |
T |
A |
8: 3,682,559 (GRCm39) |
D49E |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,474,069 (GRCm39) |
A509T |
probably benign |
Het |
Sycp2 |
A |
G |
2: 178,024,197 (GRCm39) |
F396L |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,010,587 (GRCm39) |
L2499P |
probably damaging |
Het |
Syt10 |
C |
A |
15: 89,711,144 (GRCm39) |
A130S |
probably benign |
Het |
Sytl4 |
A |
T |
X: 132,862,936 (GRCm39) |
D16E |
probably benign |
Het |
Tab2 |
C |
T |
10: 7,795,883 (GRCm39) |
V126I |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,148,317 (GRCm39) |
T363A |
probably damaging |
Het |
Terb2 |
A |
G |
2: 122,016,816 (GRCm39) |
D16G |
probably benign |
Het |
Tm2d2 |
A |
G |
8: 25,510,552 (GRCm39) |
E137G |
probably benign |
Het |
Trim30d |
T |
A |
7: 104,121,692 (GRCm39) |
H201L |
probably damaging |
Het |
Tspan3 |
A |
G |
9: 56,054,669 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,617,667 (GRCm39) |
L16268Q |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,626,529 (GRCm39) |
|
probably null |
Het |
Ubap2 |
T |
A |
4: 41,218,319 (GRCm39) |
T263S |
probably benign |
Het |
Zeb2 |
A |
T |
2: 44,886,138 (GRCm39) |
M973K |
possibly damaging |
Het |
Zfp229 |
A |
G |
17: 21,965,615 (GRCm39) |
E615G |
probably damaging |
Het |
Zfp655 |
T |
A |
5: 145,180,867 (GRCm39) |
S242T |
possibly damaging |
Het |
Zfp788 |
T |
A |
7: 41,297,705 (GRCm39) |
F62I |
possibly damaging |
Het |
Zmynd8 |
A |
G |
2: 165,629,078 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Vmn2r100 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Vmn2r100
|
APN |
17 |
19,746,262 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00912:Vmn2r100
|
APN |
17 |
19,751,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01107:Vmn2r100
|
APN |
17 |
19,741,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01517:Vmn2r100
|
APN |
17 |
19,742,225 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01594:Vmn2r100
|
APN |
17 |
19,751,495 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL01657:Vmn2r100
|
APN |
17 |
19,746,178 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01822:Vmn2r100
|
APN |
17 |
19,725,100 (GRCm39) |
missense |
probably null |
0.00 |
IGL02020:Vmn2r100
|
APN |
17 |
19,725,200 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02060:Vmn2r100
|
APN |
17 |
19,741,516 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02126:Vmn2r100
|
APN |
17 |
19,741,504 (GRCm39) |
splice site |
probably benign |
|
IGL02142:Vmn2r100
|
APN |
17 |
19,742,583 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02308:Vmn2r100
|
APN |
17 |
19,741,597 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02407:Vmn2r100
|
APN |
17 |
19,741,770 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02469:Vmn2r100
|
APN |
17 |
19,751,547 (GRCm39) |
nonsense |
probably null |
|
IGL03088:Vmn2r100
|
APN |
17 |
19,742,301 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03181:Vmn2r100
|
APN |
17 |
19,752,207 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03405:Vmn2r100
|
APN |
17 |
19,752,186 (GRCm39) |
missense |
probably damaging |
1.00 |
H8562:Vmn2r100
|
UTSW |
17 |
19,741,752 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0012:Vmn2r100
|
UTSW |
17 |
19,746,296 (GRCm39) |
missense |
probably damaging |
0.99 |
R0012:Vmn2r100
|
UTSW |
17 |
19,725,136 (GRCm39) |
missense |
probably benign |
|
R0044:Vmn2r100
|
UTSW |
17 |
19,742,441 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0109:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0111:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0112:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0149:Vmn2r100
|
UTSW |
17 |
19,741,509 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0355:Vmn2r100
|
UTSW |
17 |
19,751,582 (GRCm39) |
missense |
probably benign |
0.00 |
R0395:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0396:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0453:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0465:Vmn2r100
|
UTSW |
17 |
19,751,792 (GRCm39) |
missense |
probably damaging |
0.98 |
R0477:Vmn2r100
|
UTSW |
17 |
19,742,776 (GRCm39) |
missense |
probably benign |
0.00 |
R0510:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0512:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0514:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0518:Vmn2r100
|
UTSW |
17 |
19,742,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R0521:Vmn2r100
|
UTSW |
17 |
19,742,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0959:Vmn2r100
|
UTSW |
17 |
19,743,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1114:Vmn2r100
|
UTSW |
17 |
19,752,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R2027:Vmn2r100
|
UTSW |
17 |
19,742,334 (GRCm39) |
missense |
probably benign |
0.02 |
R2049:Vmn2r100
|
UTSW |
17 |
19,742,312 (GRCm39) |
missense |
probably benign |
0.00 |
R2224:Vmn2r100
|
UTSW |
17 |
19,742,634 (GRCm39) |
missense |
probably benign |
0.03 |
R2226:Vmn2r100
|
UTSW |
17 |
19,742,634 (GRCm39) |
missense |
probably benign |
0.03 |
R3618:Vmn2r100
|
UTSW |
17 |
19,743,692 (GRCm39) |
missense |
probably benign |
|
R3715:Vmn2r100
|
UTSW |
17 |
19,752,272 (GRCm39) |
missense |
probably damaging |
0.99 |
R4120:Vmn2r100
|
UTSW |
17 |
19,752,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4152:Vmn2r100
|
UTSW |
17 |
19,743,681 (GRCm39) |
frame shift |
probably null |
|
R4153:Vmn2r100
|
UTSW |
17 |
19,743,681 (GRCm39) |
frame shift |
probably null |
|
R4154:Vmn2r100
|
UTSW |
17 |
19,743,681 (GRCm39) |
frame shift |
probably null |
|
R4200:Vmn2r100
|
UTSW |
17 |
19,742,797 (GRCm39) |
missense |
probably benign |
0.29 |
R4632:Vmn2r100
|
UTSW |
17 |
19,752,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R4720:Vmn2r100
|
UTSW |
17 |
19,742,788 (GRCm39) |
missense |
probably benign |
0.02 |
R4761:Vmn2r100
|
UTSW |
17 |
19,741,630 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4831:Vmn2r100
|
UTSW |
17 |
19,741,672 (GRCm39) |
missense |
probably benign |
0.28 |
R4951:Vmn2r100
|
UTSW |
17 |
19,752,300 (GRCm39) |
missense |
probably benign |
0.01 |
R5211:Vmn2r100
|
UTSW |
17 |
19,746,257 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5553:Vmn2r100
|
UTSW |
17 |
19,725,110 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5657:Vmn2r100
|
UTSW |
17 |
19,725,178 (GRCm39) |
missense |
probably benign |
0.31 |
R5883:Vmn2r100
|
UTSW |
17 |
19,743,786 (GRCm39) |
missense |
probably benign |
|
R5912:Vmn2r100
|
UTSW |
17 |
19,752,071 (GRCm39) |
missense |
probably damaging |
0.99 |
R6141:Vmn2r100
|
UTSW |
17 |
19,742,576 (GRCm39) |
missense |
probably benign |
0.07 |
R6146:Vmn2r100
|
UTSW |
17 |
19,742,522 (GRCm39) |
missense |
probably benign |
0.04 |
R6500:Vmn2r100
|
UTSW |
17 |
19,742,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R6575:Vmn2r100
|
UTSW |
17 |
19,741,671 (GRCm39) |
missense |
probably benign |
0.12 |
R6647:Vmn2r100
|
UTSW |
17 |
19,742,785 (GRCm39) |
missense |
probably benign |
0.00 |
R7038:Vmn2r100
|
UTSW |
17 |
19,725,263 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7052:Vmn2r100
|
UTSW |
17 |
19,751,556 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7170:Vmn2r100
|
UTSW |
17 |
19,752,233 (GRCm39) |
missense |
probably benign |
0.00 |
R7209:Vmn2r100
|
UTSW |
17 |
19,751,576 (GRCm39) |
missense |
not run |
|
R7312:Vmn2r100
|
UTSW |
17 |
19,742,296 (GRCm39) |
missense |
probably benign |
0.01 |
R7734:Vmn2r100
|
UTSW |
17 |
19,742,296 (GRCm39) |
missense |
probably benign |
0.01 |
R7750:Vmn2r100
|
UTSW |
17 |
19,742,726 (GRCm39) |
missense |
probably benign |
|
R8103:Vmn2r100
|
UTSW |
17 |
19,751,415 (GRCm39) |
splice site |
probably null |
|
R8193:Vmn2r100
|
UTSW |
17 |
19,725,102 (GRCm39) |
nonsense |
probably null |
|
R8267:Vmn2r100
|
UTSW |
17 |
19,742,752 (GRCm39) |
nonsense |
probably null |
|
R8290:Vmn2r100
|
UTSW |
17 |
19,751,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R8531:Vmn2r100
|
UTSW |
17 |
19,742,459 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8786:Vmn2r100
|
UTSW |
17 |
19,742,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R8920:Vmn2r100
|
UTSW |
17 |
19,741,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R8938:Vmn2r100
|
UTSW |
17 |
19,751,825 (GRCm39) |
missense |
probably benign |
0.00 |
R9555:Vmn2r100
|
UTSW |
17 |
19,743,857 (GRCm39) |
missense |
probably benign |
0.00 |
R9572:Vmn2r100
|
UTSW |
17 |
19,741,513 (GRCm39) |
missense |
probably benign |
0.00 |
R9609:Vmn2r100
|
UTSW |
17 |
19,743,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R9618:Vmn2r100
|
UTSW |
17 |
19,742,583 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Vmn2r100
|
UTSW |
17 |
19,751,652 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1176:Vmn2r100
|
UTSW |
17 |
19,741,792 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Vmn2r100
|
UTSW |
17 |
19,725,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTCTCTTGAGTGACCGTAGTCAG -3'
(R):5'- TGTGAGCCACAGCATATACACCATTG -3'
Sequencing Primer
(F):5'- AGTGACCGTAGTCAGTATTCTTC -3'
(R):5'- GCCACATCAAATATGTGACTAGG -3'
|
Posted On |
2013-07-11 |