Incidental Mutation 'R4560:Vmn2r117'
| ID |
343063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r117
|
| Ensembl Gene |
ENSMUSG00000091407 |
| Gene Name |
vomeronasal 2, receptor 117 |
| Synonyms |
EG619788, V2Rp6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23678851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 791
(V791D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
| AlphaFold |
K7N6V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171996
AA Change: V791D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: V791D
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
C |
14: 56,016,407 (GRCm39) |
|
probably null |
Het |
| Atp8b1 |
A |
T |
18: 64,689,950 (GRCm39) |
L594* |
probably null |
Het |
| Atp8b1 |
C |
T |
18: 64,701,318 (GRCm39) |
V347I |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,392,745 (GRCm39) |
D342G |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,867,084 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ccdc89 |
T |
G |
7: 90,076,336 (GRCm39) |
L182R |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,233,568 (GRCm39) |
F537S |
probably benign |
Het |
| Cidec |
A |
T |
6: 113,405,399 (GRCm39) |
M118K |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,778,843 (GRCm39) |
|
probably null |
Het |
| Ctif |
A |
T |
18: 75,652,952 (GRCm39) |
L435Q |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,342,903 (GRCm39) |
V533A |
probably damaging |
Het |
| Drc1 |
T |
A |
5: 30,520,441 (GRCm39) |
M594K |
probably benign |
Het |
| Dthd1 |
C |
T |
5: 62,984,435 (GRCm39) |
T380I |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,156,777 (GRCm39) |
S3475P |
possibly damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,161,970 (GRCm39) |
V140A |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,199,857 (GRCm39) |
C243Y |
probably damaging |
Het |
| Il21 |
C |
A |
3: 37,279,633 (GRCm39) |
E128* |
probably null |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Me3 |
G |
T |
7: 89,498,938 (GRCm39) |
R506L |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,234,855 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
G |
12: 13,633,528 (GRCm39) |
N2311S |
probably benign |
Het |
| Nomo1 |
G |
T |
7: 45,690,904 (GRCm39) |
V97L |
probably damaging |
Het |
| Pcdhb11 |
G |
A |
18: 37,556,787 (GRCm39) |
V706I |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,282,082 (GRCm39) |
R2920C |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,817 (GRCm39) |
T129A |
probably benign |
Het |
| Rgs18 |
T |
G |
1: 144,631,720 (GRCm39) |
I131L |
probably benign |
Het |
| Rnf19b |
G |
T |
4: 128,965,616 (GRCm39) |
C57F |
probably damaging |
Het |
| Rpl11 |
T |
C |
4: 135,778,522 (GRCm39) |
Y122C |
probably damaging |
Het |
| Sarnp |
A |
G |
10: 128,682,412 (GRCm39) |
K5R |
probably damaging |
Het |
| Scg2 |
A |
T |
1: 79,412,898 (GRCm39) |
H568Q |
probably damaging |
Het |
| Septin10 |
T |
C |
10: 59,019,417 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Smco2 |
T |
A |
6: 146,772,674 (GRCm39) |
V292D |
possibly damaging |
Het |
| Smok3c |
A |
G |
5: 138,062,746 (GRCm39) |
M78V |
probably benign |
Het |
| Spag16 |
C |
A |
1: 69,883,455 (GRCm39) |
F61L |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,236,585 (GRCm39) |
R297H |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,889,571 (GRCm39) |
S750P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,368 (GRCm39) |
P536Q |
probably benign |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Trim9 |
A |
C |
12: 70,393,892 (GRCm39) |
Y17* |
probably null |
Het |
| Tsga10 |
A |
G |
1: 37,846,163 (GRCm39) |
M321T |
probably benign |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ubxn1 |
C |
T |
19: 8,851,588 (GRCm39) |
T207I |
probably benign |
Het |
| Vps54 |
C |
G |
11: 21,262,260 (GRCm39) |
C785W |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,973,860 (GRCm39) |
D43G |
probably benign |
Het |
| Zfp952 |
A |
G |
17: 33,222,928 (GRCm39) |
H469R |
probably benign |
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 |
|
|
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 |
|
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'- GGAAGATGATTTCACCCTGATCATTTC -3'
(R):5'- AGTCTGGCTGAGAGCTTCTC -3'
Sequencing Primer
(F):5'- GATTTCACCCTGATCATTTCAAGAG -3'
(R):5'- TGCACATTCTGAGCATGGAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation