Incidental Mutation 'R8029:Vmn2r117'
ID |
617856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r117
|
Ensembl Gene |
ENSMUSG00000091407 |
Gene Name |
vomeronasal 2, receptor 117 |
Synonyms |
EG619788, V2Rp6 |
MMRRC Submission |
067468-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R8029 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23696744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 221
(D221V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
AlphaFold |
K7N6V1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000171996
AA Change: D221V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126885 Gene: ENSMUSG00000091407 AA Change: D221V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
471 |
2.6e-28 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
5e-20 |
PFAM |
Pfam:7tm_3
|
595 |
833 |
8.2e-54 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
A |
G |
2: 58,186,129 (GRCm39) |
I118T |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,522,934 (GRCm39) |
D36G |
possibly damaging |
Het |
Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
Arhgef1 |
T |
C |
7: 24,619,163 (GRCm39) |
L468P |
probably damaging |
Het |
Armc2 |
A |
T |
10: 41,802,996 (GRCm39) |
L559Q |
probably damaging |
Het |
Asb3 |
A |
T |
11: 31,051,180 (GRCm39) |
R506* |
probably null |
Het |
Aspm |
A |
G |
1: 139,399,370 (GRCm39) |
H1045R |
probably benign |
Het |
Cacna1g |
G |
T |
11: 94,300,564 (GRCm39) |
R2099S |
probably benign |
Het |
Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
Cd34 |
A |
C |
1: 194,640,860 (GRCm39) |
M242L |
probably benign |
Het |
Cdh24 |
T |
A |
14: 54,876,856 (GRCm39) |
N49I |
probably damaging |
Het |
Ces2b |
A |
G |
8: 105,561,482 (GRCm39) |
N192S |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,312,519 (GRCm39) |
I331V |
possibly damaging |
Het |
Disp1 |
A |
G |
1: 182,870,852 (GRCm39) |
S523P |
probably damaging |
Het |
Dlgap5 |
T |
C |
14: 47,653,897 (GRCm39) |
H44R |
probably benign |
Het |
Dnajc30 |
G |
T |
5: 135,093,186 (GRCm39) |
A28S |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Exd1 |
A |
T |
2: 119,359,204 (GRCm39) |
H226Q |
probably damaging |
Het |
Gata6 |
T |
A |
18: 11,054,944 (GRCm39) |
V291E |
possibly damaging |
Het |
Get3 |
T |
C |
8: 85,746,456 (GRCm39) |
M131V |
probably benign |
Het |
Gfi1b |
A |
T |
2: 28,503,687 (GRCm39) |
|
probably null |
Het |
Grk3 |
T |
A |
5: 113,109,508 (GRCm39) |
I150L |
probably benign |
Het |
Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
Idua |
T |
C |
5: 108,817,278 (GRCm39) |
F17S |
probably benign |
Het |
Ighg1 |
T |
C |
12: 113,292,765 (GRCm39) |
K268R |
|
Het |
Lama1 |
G |
T |
17: 68,124,589 (GRCm39) |
R2883M |
|
Het |
Lpar3 |
T |
C |
3: 145,946,718 (GRCm39) |
M132T |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,338,685 (GRCm39) |
T4351A |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,496,148 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
C |
A |
8: 120,274,544 (GRCm39) |
|
probably benign |
Het |
Mctp1 |
T |
C |
13: 77,178,005 (GRCm39) |
Y931H |
probably damaging |
Het |
Mug2 |
A |
G |
6: 122,058,504 (GRCm39) |
|
probably null |
Het |
Myh1 |
G |
T |
11: 67,102,066 (GRCm39) |
|
probably null |
Het |
Mylk2 |
T |
C |
2: 152,762,219 (GRCm39) |
S497P |
probably damaging |
Het |
Nectin4 |
A |
G |
1: 171,214,255 (GRCm39) |
D470G |
probably benign |
Het |
Nop2 |
C |
T |
6: 125,121,383 (GRCm39) |
P722S |
possibly damaging |
Het |
Nphp1 |
T |
C |
2: 127,583,036 (GRCm39) |
T626A |
probably benign |
Het |
Nudt9 |
C |
T |
5: 104,198,477 (GRCm39) |
|
probably benign |
Het |
Oplah |
T |
C |
15: 76,189,896 (GRCm39) |
Y143C |
probably benign |
Het |
Or10a3m |
T |
A |
7: 108,313,037 (GRCm39) |
F159Y |
possibly damaging |
Het |
Or12e10 |
A |
G |
2: 87,640,376 (GRCm39) |
T71A |
probably benign |
Het |
Or7e178 |
A |
G |
9: 20,225,643 (GRCm39) |
F191S |
possibly damaging |
Het |
Or7g20 |
T |
C |
9: 18,947,090 (GRCm39) |
S224P |
probably damaging |
Het |
Osbpl1a |
T |
G |
18: 13,047,578 (GRCm39) |
E125D |
probably benign |
Het |
P2ry1 |
C |
A |
3: 60,910,943 (GRCm39) |
N27K |
possibly damaging |
Het |
Palld |
A |
T |
8: 62,330,346 (GRCm39) |
I177N |
probably damaging |
Het |
Plcl1 |
A |
T |
1: 55,735,237 (GRCm39) |
I193L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,889,940 (GRCm39) |
L53* |
probably null |
Het |
Ppp1r9a |
A |
G |
6: 5,057,518 (GRCm39) |
E531G |
possibly damaging |
Het |
Prex1 |
C |
A |
2: 166,417,523 (GRCm39) |
Q1361H |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,006,197 (GRCm39) |
E795G |
probably damaging |
Het |
Rars1 |
C |
T |
11: 35,711,992 (GRCm39) |
V295I |
probably damaging |
Het |
Rnaseh2b |
T |
C |
14: 62,590,997 (GRCm39) |
V116A |
possibly damaging |
Het |
Rnf43 |
T |
A |
11: 87,622,720 (GRCm39) |
L480H |
probably benign |
Het |
Rttn |
A |
G |
18: 89,108,598 (GRCm39) |
T1601A |
not run |
Het |
Setd1a |
C |
G |
7: 127,385,386 (GRCm39) |
Q698E |
probably benign |
Het |
Sh3gl3 |
T |
C |
7: 81,920,091 (GRCm39) |
Y100H |
probably benign |
Het |
Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
Snx13 |
A |
C |
12: 35,169,885 (GRCm39) |
H610P |
probably damaging |
Het |
Spata31d1e |
T |
C |
13: 59,890,191 (GRCm39) |
H543R |
possibly damaging |
Het |
Spdl1 |
T |
C |
11: 34,713,419 (GRCm39) |
R217G |
probably benign |
Het |
Spop |
G |
A |
11: 95,365,193 (GRCm39) |
E113K |
probably benign |
Het |
Sult2a3 |
G |
A |
7: 13,855,553 (GRCm39) |
P101L |
probably damaging |
Het |
Tbl1xr1 |
C |
T |
3: 22,254,600 (GRCm39) |
H348Y |
probably damaging |
Het |
Tmie |
T |
C |
9: 110,696,555 (GRCm39) |
T109A |
possibly damaging |
Het |
Ttc12 |
A |
G |
9: 49,381,551 (GRCm39) |
V140A |
possibly damaging |
Het |
Ube2m |
A |
G |
7: 12,770,524 (GRCm39) |
L58P |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,576,040 (GRCm39) |
S839P |
possibly damaging |
Het |
Vps41 |
C |
T |
13: 19,007,955 (GRCm39) |
Q263* |
probably null |
Het |
Zfand3 |
A |
T |
17: 30,354,407 (GRCm39) |
T75S |
probably benign |
Het |
Zscan26 |
A |
G |
13: 21,629,520 (GRCm39) |
C202R |
probably damaging |
Het |
|
Other mutations in Vmn2r117 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Vmn2r117
|
APN |
17 |
23,698,520 (GRCm39) |
missense |
probably benign |
|
IGL00990:Vmn2r117
|
APN |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Vmn2r117
|
APN |
17 |
23,694,403 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01078:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01139:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01374:Vmn2r117
|
APN |
17 |
23,697,356 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01779:Vmn2r117
|
APN |
17 |
23,696,215 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02283:Vmn2r117
|
APN |
17 |
23,694,356 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02527:Vmn2r117
|
APN |
17 |
23,696,199 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02612:Vmn2r117
|
APN |
17 |
23,678,758 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02887:Vmn2r117
|
APN |
17 |
23,694,552 (GRCm39) |
splice site |
probably benign |
|
IGL03167:Vmn2r117
|
APN |
17 |
23,696,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R0315:Vmn2r117
|
UTSW |
17 |
23,679,139 (GRCm39) |
missense |
probably benign |
0.11 |
R0610:Vmn2r117
|
UTSW |
17 |
23,694,488 (GRCm39) |
missense |
probably benign |
0.00 |
R0747:Vmn2r117
|
UTSW |
17 |
23,694,477 (GRCm39) |
nonsense |
probably null |
|
R1411:Vmn2r117
|
UTSW |
17 |
23,679,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R1471:Vmn2r117
|
UTSW |
17 |
23,697,447 (GRCm39) |
missense |
probably benign |
0.00 |
R1853:Vmn2r117
|
UTSW |
17 |
23,696,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R1925:Vmn2r117
|
UTSW |
17 |
23,697,363 (GRCm39) |
missense |
probably benign |
0.00 |
R1940:Vmn2r117
|
UTSW |
17 |
23,696,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Vmn2r117
|
UTSW |
17 |
23,696,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R2082:Vmn2r117
|
UTSW |
17 |
23,679,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2698:Vmn2r117
|
UTSW |
17 |
23,678,885 (GRCm39) |
missense |
probably damaging |
0.98 |
R2972:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R2973:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R2974:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R3160:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3161:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
R3848:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
R4082:Vmn2r117
|
UTSW |
17 |
23,679,080 (GRCm39) |
missense |
probably benign |
0.00 |
R4320:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
R4560:Vmn2r117
|
UTSW |
17 |
23,678,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Vmn2r117
|
UTSW |
17 |
23,697,390 (GRCm39) |
missense |
probably benign |
0.01 |
R4881:Vmn2r117
|
UTSW |
17 |
23,696,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4908:Vmn2r117
|
UTSW |
17 |
23,678,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
R5078:Vmn2r117
|
UTSW |
17 |
23,679,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Vmn2r117
|
UTSW |
17 |
23,696,848 (GRCm39) |
nonsense |
probably null |
|
R5774:Vmn2r117
|
UTSW |
17 |
23,696,176 (GRCm39) |
missense |
probably damaging |
0.98 |
R6014:Vmn2r117
|
UTSW |
17 |
23,698,535 (GRCm39) |
missense |
probably damaging |
0.97 |
R6390:Vmn2r117
|
UTSW |
17 |
23,679,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6520:Vmn2r117
|
UTSW |
17 |
23,679,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R6674:Vmn2r117
|
UTSW |
17 |
23,679,023 (GRCm39) |
nonsense |
probably null |
|
R6736:Vmn2r117
|
UTSW |
17 |
23,697,282 (GRCm39) |
missense |
probably damaging |
0.99 |
R6909:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6913:Vmn2r117
|
UTSW |
17 |
23,698,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R7220:Vmn2r117
|
UTSW |
17 |
23,696,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R7260:Vmn2r117
|
UTSW |
17 |
23,694,359 (GRCm39) |
missense |
probably benign |
0.06 |
R7440:Vmn2r117
|
UTSW |
17 |
23,694,539 (GRCm39) |
missense |
probably benign |
0.26 |
R7443:Vmn2r117
|
UTSW |
17 |
23,679,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Vmn2r117
|
UTSW |
17 |
23,679,107 (GRCm39) |
missense |
probably benign |
0.25 |
R7449:Vmn2r117
|
UTSW |
17 |
23,678,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R7644:Vmn2r117
|
UTSW |
17 |
23,696,265 (GRCm39) |
missense |
probably damaging |
0.98 |
R7914:Vmn2r117
|
UTSW |
17 |
23,679,100 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8001:Vmn2r117
|
UTSW |
17 |
23,698,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8340:Vmn2r117
|
UTSW |
17 |
23,679,511 (GRCm39) |
missense |
probably benign |
0.01 |
R8519:Vmn2r117
|
UTSW |
17 |
23,698,442 (GRCm39) |
missense |
probably benign |
|
R8723:Vmn2r117
|
UTSW |
17 |
23,696,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8914:Vmn2r117
|
UTSW |
17 |
23,679,143 (GRCm39) |
missense |
probably benign |
0.02 |
R9010:Vmn2r117
|
UTSW |
17 |
23,679,445 (GRCm39) |
missense |
probably benign |
0.10 |
R9129:Vmn2r117
|
UTSW |
17 |
23,678,918 (GRCm39) |
nonsense |
probably null |
|
R9244:Vmn2r117
|
UTSW |
17 |
23,696,589 (GRCm39) |
missense |
probably damaging |
0.98 |
R9464:Vmn2r117
|
UTSW |
17 |
23,696,578 (GRCm39) |
missense |
probably benign |
0.23 |
R9620:Vmn2r117
|
UTSW |
17 |
23,697,450 (GRCm39) |
missense |
probably damaging |
0.97 |
V5622:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
V5622:Vmn2r117
|
UTSW |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r117
|
UTSW |
17 |
23,678,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTGGTGATCCATAGTCTCTG -3'
(R):5'- AGTTCCTTCAGATTACTTATGGACC -3'
Sequencing Primer
(F):5'- ACAGCTAAGGTACTGTCTGTGTCAC -3'
(R):5'- AGATTACTTATGGACCCTTTCATCC -3'
|
Posted On |
2020-01-23 |