Incidental Mutation 'IGL02612:Vmn2r117'
| ID |
300488 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02612
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23678758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 822
(M822K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
| AlphaFold |
K7N6V1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171996
AA Change: M822K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: M822K
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,654,971 (GRCm39) |
M1432L |
probably benign |
Het |
| Alg11 |
A |
G |
8: 22,551,999 (GRCm39) |
R48G |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bmp4 |
T |
A |
14: 46,621,938 (GRCm39) |
D202V |
probably damaging |
Het |
| Car12 |
T |
G |
9: 66,669,706 (GRCm39) |
L300R |
probably damaging |
Het |
| Cdc37l1 |
T |
A |
19: 28,993,502 (GRCm39) |
*336R |
probably null |
Het |
| Cep89 |
A |
G |
7: 35,124,080 (GRCm39) |
|
probably null |
Het |
| Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,445,033 (GRCm39) |
D338G |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,019,945 (GRCm39) |
C466R |
probably damaging |
Het |
| Dach2 |
T |
C |
X: 112,660,101 (GRCm39) |
M194T |
probably benign |
Het |
| Dmrtc1b |
A |
G |
X: 101,756,873 (GRCm39) |
D100G |
probably benign |
Het |
| Epm2a |
G |
A |
10: 11,332,980 (GRCm39) |
R271H |
probably damaging |
Het |
| Fem1c |
G |
T |
18: 46,638,781 (GRCm39) |
T407K |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,889,848 (GRCm39) |
Y273C |
probably damaging |
Het |
| Foxc2 |
C |
A |
8: 121,844,576 (GRCm39) |
A408E |
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,366,368 (GRCm39) |
M512K |
possibly damaging |
Het |
| Gm5134 |
T |
C |
10: 75,828,323 (GRCm39) |
L301P |
probably damaging |
Het |
| Grk3 |
A |
T |
5: 113,117,100 (GRCm39) |
D100E |
probably benign |
Het |
| Gsdma3 |
T |
A |
11: 98,526,707 (GRCm39) |
D322E |
probably damaging |
Het |
| Gucy1a2 |
C |
A |
9: 3,894,556 (GRCm39) |
L680I |
possibly damaging |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,766 (GRCm39) |
Y79C |
probably damaging |
Het |
| Igkv4-50 |
T |
C |
6: 69,678,024 (GRCm39) |
T27A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,106,404 (GRCm39) |
D1002G |
probably damaging |
Het |
| Map4k5 |
T |
A |
12: 69,896,358 (GRCm39) |
I169F |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,488,052 (GRCm39) |
V39A |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,508,482 (GRCm39) |
H301Q |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,147,305 (GRCm39) |
T1650I |
probably benign |
Het |
| Or52n4 |
A |
T |
7: 104,293,870 (GRCm39) |
D234E |
probably benign |
Het |
| Or8b37 |
T |
A |
9: 37,958,662 (GRCm39) |
L48Q |
probably damaging |
Het |
| Or8b44 |
T |
C |
9: 38,410,769 (GRCm39) |
M268T |
probably benign |
Het |
| Pate10 |
T |
C |
9: 35,653,460 (GRCm39) |
I88T |
possibly damaging |
Het |
| Pbxip1 |
C |
T |
3: 89,350,988 (GRCm39) |
T117M |
probably damaging |
Het |
| Pgghg |
C |
T |
7: 140,526,251 (GRCm39) |
T572M |
probably damaging |
Het |
| Phactr2 |
G |
A |
10: 13,121,167 (GRCm39) |
T511I |
probably damaging |
Het |
| Pip5k1a |
T |
C |
3: 94,974,724 (GRCm39) |
I385V |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,018,828 (GRCm39) |
C60R |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rttn |
G |
T |
18: 88,991,750 (GRCm39) |
D110Y |
probably damaging |
Het |
| Setbp1 |
G |
T |
18: 78,798,925 (GRCm39) |
H1418Q |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,569,608 (GRCm39) |
I37V |
probably benign |
Het |
| Slc27a6 |
A |
T |
18: 58,689,977 (GRCm39) |
I148F |
probably benign |
Het |
| Slmap |
A |
G |
14: 26,180,621 (GRCm39) |
|
probably benign |
Het |
| Speer4a3 |
A |
C |
5: 26,156,614 (GRCm39) |
Y122D |
probably benign |
Het |
| Stil |
A |
G |
4: 114,880,893 (GRCm39) |
Q479R |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,166,321 (GRCm39) |
*549Q |
probably null |
Het |
| Tnks |
C |
T |
8: 35,316,453 (GRCm39) |
V889I |
possibly damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,633,826 (GRCm39) |
V1308E |
possibly damaging |
Het |
| Vmn1r208 |
C |
A |
13: 22,956,993 (GRCm39) |
C168F |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,420,552 (GRCm39) |
N1751S |
probably benign |
Het |
| Vwde |
A |
T |
6: 13,187,148 (GRCm39) |
F780I |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,577 (GRCm39) |
I184T |
possibly damaging |
Het |
| Wdr26 |
A |
T |
1: 181,005,361 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
G |
A |
18: 55,031,273 (GRCm39) |
T889M |
probably damaging |
Het |
| Zfp955a |
G |
T |
17: 33,463,039 (GRCm39) |
Q31K |
probably damaging |
Het |
| Zpbp2 |
T |
C |
11: 98,446,343 (GRCm39) |
L145S |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation