Incidental Mutation 'R4082:Vmn2r117'
ID |
316963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r117
|
Ensembl Gene |
ENSMUSG00000091407 |
Gene Name |
vomeronasal 2, receptor 117 |
Synonyms |
EG619788, V2Rp6 |
MMRRC Submission |
041624-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R4082 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 23679080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 715
(V715I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
AlphaFold |
K7N6V1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000171996
AA Change: V715I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000126885 Gene: ENSMUSG00000091407 AA Change: V715I
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: 95.4%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021P04Rik |
T |
G |
19: 24,043,366 (GRCm39) |
|
noncoding transcript |
Het |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
Abca12 |
G |
T |
1: 71,306,622 (GRCm39) |
T2028K |
possibly damaging |
Het |
Abt1 |
T |
C |
13: 23,606,316 (GRCm39) |
T213A |
probably benign |
Het |
Adcy1 |
A |
C |
11: 7,014,117 (GRCm39) |
Y173S |
probably damaging |
Het |
Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
Akr1d1 |
G |
A |
6: 37,534,424 (GRCm39) |
V193M |
probably damaging |
Het |
Cars1 |
C |
T |
7: 143,123,234 (GRCm39) |
E461K |
probably damaging |
Het |
Ccdc80 |
T |
C |
16: 44,943,290 (GRCm39) |
L800P |
probably damaging |
Het |
Ccl22 |
A |
G |
8: 95,473,536 (GRCm39) |
Y27C |
probably damaging |
Het |
Cdc123 |
G |
A |
2: 5,815,566 (GRCm39) |
|
probably benign |
Het |
Cldn11 |
A |
T |
3: 31,217,278 (GRCm39) |
I149F |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,300,429 (GRCm39) |
Y986H |
unknown |
Het |
Col6a3 |
G |
A |
1: 90,749,605 (GRCm39) |
L410F |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,761,282 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,433,374 (GRCm39) |
|
probably benign |
Het |
Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
Cyp2e1 |
T |
C |
7: 140,350,991 (GRCm39) |
I321T |
possibly damaging |
Het |
Eps8l1 |
T |
A |
7: 4,473,797 (GRCm39) |
|
probably null |
Het |
Fasl |
C |
T |
1: 161,609,420 (GRCm39) |
V189M |
probably damaging |
Het |
Fbxw5 |
T |
C |
2: 25,394,643 (GRCm39) |
|
probably null |
Het |
Flg2 |
A |
C |
3: 93,110,828 (GRCm39) |
E952A |
unknown |
Het |
Gpd1l |
A |
T |
9: 114,746,146 (GRCm39) |
L90Q |
probably damaging |
Het |
Grik4 |
G |
T |
9: 42,509,180 (GRCm39) |
F414L |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klhl3 |
C |
T |
13: 58,166,611 (GRCm39) |
G407S |
probably null |
Het |
Lmbr1 |
T |
C |
5: 29,463,753 (GRCm39) |
E157G |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
Mrpl20 |
A |
T |
4: 155,892,970 (GRCm39) |
D67V |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,378,022 (GRCm39) |
T1346A |
possibly damaging |
Het |
Naip5 |
A |
T |
13: 100,382,338 (GRCm39) |
C124S |
probably damaging |
Het |
Or10ag2 |
T |
A |
2: 87,248,801 (GRCm39) |
Y134* |
probably null |
Het |
Or13n4 |
T |
C |
7: 106,423,245 (GRCm39) |
T163A |
possibly damaging |
Het |
Or52u1 |
T |
A |
7: 104,237,830 (GRCm39) |
V290D |
probably damaging |
Het |
Osbp |
A |
G |
19: 11,956,030 (GRCm39) |
D385G |
probably benign |
Het |
Paip1 |
G |
A |
13: 119,593,540 (GRCm39) |
D460N |
probably damaging |
Het |
Pde3b |
T |
C |
7: 114,093,823 (GRCm39) |
S356P |
probably benign |
Het |
Pms2 |
A |
G |
5: 143,867,837 (GRCm39) |
M814V |
probably damaging |
Het |
Polg |
C |
A |
7: 79,114,576 (GRCm39) |
K128N |
probably damaging |
Het |
Polk |
G |
T |
13: 96,620,181 (GRCm39) |
T694K |
probably benign |
Het |
Pom121 |
T |
C |
5: 135,417,491 (GRCm39) |
K342R |
unknown |
Het |
Pou5f2 |
T |
C |
13: 78,174,024 (GRCm39) |
L322P |
probably damaging |
Het |
Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
Ptpn6 |
T |
C |
6: 124,705,382 (GRCm39) |
D183G |
probably damaging |
Het |
Pygb |
G |
A |
2: 150,668,391 (GRCm39) |
|
probably null |
Het |
Ralgds |
C |
T |
2: 28,442,283 (GRCm39) |
|
probably benign |
Het |
Ret |
T |
C |
6: 118,130,927 (GRCm39) |
T1079A |
possibly damaging |
Het |
Rspo2 |
A |
C |
15: 42,885,933 (GRCm39) |
V241G |
probably benign |
Het |
Smg1 |
T |
A |
7: 117,759,469 (GRCm39) |
|
probably benign |
Het |
Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
Sufu |
A |
G |
19: 46,413,541 (GRCm39) |
M141V |
probably damaging |
Het |
Sytl2 |
T |
A |
7: 90,057,635 (GRCm39) |
V831D |
possibly damaging |
Het |
Tc2n |
T |
C |
12: 101,617,414 (GRCm39) |
E335G |
possibly damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tmcc1 |
T |
A |
6: 116,020,441 (GRCm39) |
H118L |
probably damaging |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Vmn1r209 |
A |
C |
13: 22,989,785 (GRCm39) |
L302V |
probably null |
Het |
Vopp1 |
A |
T |
6: 57,766,964 (GRCm39) |
Y37* |
probably null |
Het |
Xrn1 |
A |
G |
9: 95,863,973 (GRCm39) |
T528A |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,302,662 (GRCm39) |
D1774G |
probably benign |
Het |
Zfp955b |
T |
A |
17: 33,521,129 (GRCm39) |
D199E |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,734,475 (GRCm39) |
S525G |
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 |
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 |
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 |
|
Posted On |
2015-05-15 |