Incidental Mutation 'R6909:Vmn2r117'
ID |
538953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r117
|
Ensembl Gene |
ENSMUSG00000091407 |
Gene Name |
vomeronasal 2, receptor 117 |
Synonyms |
EG619788, V2Rp6 |
MMRRC Submission |
045001-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6909 (G1)
|
Quality Score |
98.0078 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 23698479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 31
(Q31H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
AlphaFold |
K7N6V1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171996
AA Change: Q31H
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126885 Gene: ENSMUSG00000091407 AA Change: Q31H
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: 99.1%
- 20x: 97.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
G |
T |
11: 110,006,323 (GRCm39) |
Q1261K |
probably benign |
Het |
Acp3 |
T |
C |
9: 104,178,164 (GRCm39) |
Y329C |
probably damaging |
Het |
Agrn |
G |
T |
4: 156,261,464 (GRCm39) |
H585N |
possibly damaging |
Het |
Ano1 |
G |
A |
7: 144,209,468 (GRCm39) |
T211M |
probably damaging |
Het |
Atic |
T |
G |
1: 71,616,005 (GRCm39) |
|
probably null |
Het |
Catsperd |
T |
A |
17: 56,957,781 (GRCm39) |
S229R |
probably damaging |
Het |
Ccdc168 |
C |
T |
1: 44,098,935 (GRCm39) |
R721Q |
possibly damaging |
Het |
Cfap210 |
A |
T |
2: 69,612,192 (GRCm39) |
|
probably null |
Het |
Cfap251 |
A |
G |
5: 123,425,815 (GRCm39) |
Y418C |
probably damaging |
Het |
Cibar1 |
T |
C |
4: 12,168,309 (GRCm39) |
T97A |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,227,760 (GRCm39) |
T2443A |
probably benign |
Het |
Dysf |
A |
T |
6: 84,169,920 (GRCm39) |
E1772V |
probably damaging |
Het |
Eps8l1 |
T |
A |
7: 4,472,899 (GRCm39) |
L107* |
probably null |
Het |
Fpr3 |
T |
A |
17: 18,191,429 (GRCm39) |
F233L |
probably benign |
Het |
Gjc2 |
A |
T |
11: 59,067,918 (GRCm39) |
V188E |
unknown |
Het |
Gm45861 |
T |
A |
8: 28,017,109 (GRCm39) |
Y690N |
unknown |
Het |
Gsdma2 |
T |
A |
11: 98,543,383 (GRCm39) |
C224* |
probably null |
Het |
Gucy2d |
T |
A |
7: 98,116,832 (GRCm39) |
Y881N |
probably damaging |
Het |
Hcn3 |
A |
G |
3: 89,059,936 (GRCm39) |
|
probably null |
Het |
Hectd1 |
G |
T |
12: 51,810,945 (GRCm39) |
|
probably null |
Het |
Ifitm5 |
A |
G |
7: 140,529,172 (GRCm39) |
F146L |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,024,947 (GRCm39) |
F18S |
probably damaging |
Het |
Ino80c |
T |
A |
18: 24,241,812 (GRCm39) |
|
probably benign |
Het |
Itga10 |
A |
G |
3: 96,569,915 (GRCm39) |
H1109R |
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,960,381 (GRCm39) |
|
probably null |
Het |
Klra8 |
T |
G |
6: 130,102,123 (GRCm39) |
N104T |
probably benign |
Het |
Llgl2 |
G |
A |
11: 115,741,625 (GRCm39) |
C585Y |
probably damaging |
Het |
Lmod2 |
T |
A |
6: 24,604,157 (GRCm39) |
D377E |
probably benign |
Het |
Lrat |
G |
A |
3: 82,810,961 (GRCm39) |
S20F |
probably damaging |
Het |
Lrrc43 |
T |
A |
5: 123,638,482 (GRCm39) |
H363Q |
probably benign |
Het |
Lyst |
T |
G |
13: 13,917,960 (GRCm39) |
I3340S |
probably damaging |
Het |
Magi1 |
C |
A |
6: 93,674,301 (GRCm39) |
G948W |
probably damaging |
Het |
Map3k4 |
A |
C |
17: 12,489,872 (GRCm39) |
F520V |
probably damaging |
Het |
Mcm4 |
A |
T |
16: 15,446,561 (GRCm39) |
N607K |
probably damaging |
Het |
Mta3 |
T |
C |
17: 84,073,980 (GRCm39) |
V216A |
possibly damaging |
Het |
Ncor1 |
C |
A |
11: 62,220,312 (GRCm39) |
G2131V |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,248,959 (GRCm39) |
H189R |
probably damaging |
Het |
Or2z9 |
T |
A |
8: 72,854,372 (GRCm39) |
V256E |
possibly damaging |
Het |
Or5d16 |
A |
G |
2: 87,773,034 (GRCm39) |
S313P |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,046,622 (GRCm39) |
I126L |
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,144,479 (GRCm39) |
L275P |
probably damaging |
Het |
Ptpn2 |
A |
T |
18: 67,809,041 (GRCm39) |
|
probably null |
Het |
Scn10a |
A |
G |
9: 119,438,856 (GRCm39) |
I1671T |
probably damaging |
Het |
Scyl2 |
A |
T |
10: 89,481,604 (GRCm39) |
S622T |
probably benign |
Het |
Sim1 |
C |
T |
10: 50,785,506 (GRCm39) |
R192C |
possibly damaging |
Het |
Skor2 |
A |
G |
18: 76,948,252 (GRCm39) |
H658R |
possibly damaging |
Het |
Slc10a5 |
A |
G |
3: 10,400,655 (GRCm39) |
S2P |
possibly damaging |
Het |
Slc37a4 |
A |
T |
9: 44,311,331 (GRCm39) |
K207N |
possibly damaging |
Het |
Syne2 |
G |
T |
12: 76,110,969 (GRCm39) |
V5768L |
probably benign |
Het |
Tdpoz3 |
T |
A |
3: 93,733,772 (GRCm39) |
V149E |
probably damaging |
Het |
Tekt5 |
T |
C |
16: 10,176,165 (GRCm39) |
N460S |
probably damaging |
Het |
Tk2 |
G |
T |
8: 104,963,442 (GRCm39) |
Y142* |
probably null |
Het |
Tkfc |
T |
A |
19: 10,573,630 (GRCm39) |
Q236L |
probably benign |
Het |
Tln2 |
G |
A |
9: 67,299,814 (GRCm39) |
T148I |
probably damaging |
Het |
Trim62 |
A |
G |
4: 128,778,021 (GRCm39) |
D20G |
probably damaging |
Het |
Tspan14 |
A |
C |
14: 40,635,398 (GRCm39) |
V166G |
probably benign |
Het |
Ttn |
A |
T |
2: 76,712,065 (GRCm39) |
|
probably benign |
Het |
Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
Zfp87 |
T |
C |
13: 74,519,861 (GRCm39) |
T406A |
possibly 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 |
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 |
R8029:Vmn2r117
|
UTSW |
17 |
23,696,744 (GRCm39) |
missense |
probably benign |
0.00 |
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'- CCTCATCCTCAGTAGTCTTGGG -3'
(R):5'- ATGATTCCTCCAGGGGTGAG -3'
Sequencing Primer
(F):5'- CCTCAGTAGTCTTGGGAAACATTC -3'
(R):5'- CTCCCTGGGACACAGTGTTAATAG -3'
|
Posted On |
2018-11-06 |