Incidental Mutation 'R2262:Vmn2r6'
ID |
243842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r6
|
Ensembl Gene |
ENSMUSG00000090581 |
Gene Name |
vomeronasal 2, receptor 6 |
Synonyms |
EG667069, EG620718 |
MMRRC Submission |
040262-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R2262 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
64444916-64472855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64464090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 248
(N248S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165012]
[ENSMUST00000176481]
|
AlphaFold |
H3BK29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165012
AA Change: N159S
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000131831 Gene: ENSMUSG00000090581 AA Change: N159S
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
416 |
1.4e-72 |
PFAM |
Pfam:Peripla_BP_6
|
58 |
244 |
1.2e-10 |
PFAM |
Pfam:NCD3G
|
458 |
511 |
1.8e-17 |
PFAM |
Pfam:7tm_3
|
542 |
779 |
3.9e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176481
AA Change: N248S
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000135148 Gene: ENSMUSG00000090581 AA Change: N248S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
88 |
505 |
9.8e-77 |
PFAM |
Pfam:Peripla_BP_6
|
142 |
331 |
3.4e-10 |
PFAM |
Pfam:NCD3G
|
547 |
600 |
5.4e-17 |
PFAM |
Pfam:7tm_3
|
633 |
867 |
3.9e-47 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
A |
G |
4: 132,790,474 (GRCm39) |
T572A |
unknown |
Het |
Bco1 |
T |
C |
8: 117,859,764 (GRCm39) |
L489S |
probably damaging |
Het |
Brinp1 |
A |
G |
4: 68,747,591 (GRCm39) |
Y171H |
probably damaging |
Het |
C1rl |
A |
T |
6: 124,483,907 (GRCm39) |
I186F |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 30,212,973 (GRCm39) |
V29A |
possibly damaging |
Het |
Calcrl |
T |
C |
2: 84,175,517 (GRCm39) |
D279G |
probably damaging |
Het |
Cass4 |
T |
C |
2: 172,269,174 (GRCm39) |
S421P |
probably damaging |
Het |
Casz1 |
G |
T |
4: 149,013,556 (GRCm39) |
R40L |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,152,907 (GRCm39) |
V2372A |
probably damaging |
Het |
Cdk17 |
T |
A |
10: 93,047,820 (GRCm39) |
S56T |
possibly damaging |
Het |
Ces2h |
T |
A |
8: 105,743,191 (GRCm39) |
M142K |
probably damaging |
Het |
Cfap161 |
C |
T |
7: 83,442,580 (GRCm39) |
V78I |
probably benign |
Het |
Chst8 |
T |
A |
7: 34,375,435 (GRCm39) |
M135L |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Dcc |
C |
T |
18: 71,507,622 (GRCm39) |
E917K |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,892,809 (GRCm39) |
N798S |
probably damaging |
Het |
Dnajc3 |
A |
G |
14: 119,198,232 (GRCm39) |
Q118R |
probably damaging |
Het |
Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
Fnbp4 |
G |
T |
2: 90,587,748 (GRCm39) |
L375F |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,163,999 (GRCm39) |
Q433R |
possibly damaging |
Het |
Glt1d1 |
A |
G |
5: 127,734,176 (GRCm39) |
M117V |
probably benign |
Het |
Hcar1 |
A |
C |
5: 124,016,649 (GRCm39) |
D347E |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,582,837 (GRCm39) |
K563E |
probably damaging |
Het |
Klra17 |
A |
G |
6: 129,851,757 (GRCm39) |
|
probably null |
Het |
Krt35 |
C |
T |
11: 99,986,593 (GRCm39) |
M140I |
probably benign |
Het |
Lamb2 |
A |
T |
9: 108,357,809 (GRCm39) |
I111F |
probably damaging |
Het |
Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
Noa1 |
G |
A |
5: 77,457,651 (GRCm39) |
Q85* |
probably null |
Het |
Nsun4 |
A |
T |
4: 115,910,147 (GRCm39) |
S138T |
probably benign |
Het |
Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
Pde1a |
T |
A |
2: 79,959,275 (GRCm39) |
|
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,346,184 (GRCm39) |
V778A |
probably benign |
Het |
Plekhj1 |
A |
T |
10: 80,632,306 (GRCm39) |
N55K |
probably benign |
Het |
Ptpn20 |
A |
G |
14: 33,334,268 (GRCm39) |
M49V |
probably benign |
Het |
Rbm6 |
A |
G |
9: 107,668,289 (GRCm39) |
L547P |
probably damaging |
Het |
Rexo1 |
C |
T |
10: 80,385,403 (GRCm39) |
E552K |
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Saxo1 |
C |
T |
4: 86,397,212 (GRCm39) |
D109N |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,390,311 (GRCm39) |
|
probably benign |
Het |
Slc22a28 |
T |
C |
19: 8,048,573 (GRCm39) |
Y358C |
probably benign |
Het |
Sptbn4 |
T |
A |
7: 27,133,782 (GRCm39) |
D77V |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,080,764 (GRCm39) |
S867G |
possibly damaging |
Het |
Stmn2 |
T |
C |
3: 8,606,955 (GRCm39) |
F25S |
probably damaging |
Het |
Tcirg1 |
C |
T |
19: 3,953,591 (GRCm39) |
R112H |
possibly damaging |
Het |
Tekt4 |
T |
A |
17: 25,695,485 (GRCm39) |
S439R |
possibly damaging |
Het |
Trpc1 |
T |
A |
9: 95,588,986 (GRCm39) |
N746I |
probably damaging |
Het |
Tuba1c |
A |
G |
15: 98,935,757 (GRCm39) |
H406R |
probably damaging |
Het |
Uqcrfs1 |
G |
A |
13: 30,725,090 (GRCm39) |
S150L |
probably benign |
Het |
Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
Vmn1r68 |
T |
C |
7: 10,261,372 (GRCm39) |
E242G |
probably damaging |
Het |
Vmn2r29 |
T |
A |
7: 7,243,085 (GRCm39) |
H22L |
possibly damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,477,618 (GRCm39) |
I258L |
probably benign |
Het |
Vmn2r37 |
T |
A |
7: 9,220,943 (GRCm39) |
T307S |
probably damaging |
Het |
Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
Vmn2r67 |
T |
C |
7: 84,786,182 (GRCm39) |
T608A |
probably damaging |
Het |
Wdr87-ps |
T |
C |
7: 29,231,987 (GRCm39) |
|
noncoding transcript |
Het |
Xpo1 |
T |
A |
11: 23,234,634 (GRCm39) |
|
probably null |
Het |
Zfp180 |
T |
G |
7: 23,804,049 (GRCm39) |
V156G |
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,873 (GRCm39) |
L397Q |
probably damaging |
Het |
|
Other mutations in Vmn2r6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01547:Vmn2r6
|
APN |
3 |
64,445,525 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01968:Vmn2r6
|
APN |
3 |
64,463,766 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02009:Vmn2r6
|
APN |
3 |
64,445,323 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02039:Vmn2r6
|
APN |
3 |
64,463,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Vmn2r6
|
APN |
3 |
64,463,749 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02737:Vmn2r6
|
APN |
3 |
64,463,911 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02808:Vmn2r6
|
APN |
3 |
64,463,917 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03066:Vmn2r6
|
APN |
3 |
64,472,574 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03331:Vmn2r6
|
APN |
3 |
64,445,428 (GRCm39) |
missense |
probably damaging |
1.00 |
BB010:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
BB020:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
R0010:Vmn2r6
|
UTSW |
3 |
64,466,966 (GRCm39) |
nonsense |
probably null |
|
R0206:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
R0206:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
R0208:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
R0427:Vmn2r6
|
UTSW |
3 |
64,467,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R0466:Vmn2r6
|
UTSW |
3 |
64,463,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R1018:Vmn2r6
|
UTSW |
3 |
64,464,261 (GRCm39) |
missense |
probably benign |
0.00 |
R1104:Vmn2r6
|
UTSW |
3 |
64,445,487 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1186:Vmn2r6
|
UTSW |
3 |
64,472,488 (GRCm39) |
missense |
probably benign |
0.01 |
R1245:Vmn2r6
|
UTSW |
3 |
64,464,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1295:Vmn2r6
|
UTSW |
3 |
64,445,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Vmn2r6
|
UTSW |
3 |
64,445,579 (GRCm39) |
nonsense |
probably null |
|
R1498:Vmn2r6
|
UTSW |
3 |
64,463,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1925:Vmn2r6
|
UTSW |
3 |
64,463,698 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2044:Vmn2r6
|
UTSW |
3 |
64,445,262 (GRCm39) |
missense |
probably damaging |
0.96 |
R2069:Vmn2r6
|
UTSW |
3 |
64,463,519 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2253:Vmn2r6
|
UTSW |
3 |
64,467,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R2261:Vmn2r6
|
UTSW |
3 |
64,464,090 (GRCm39) |
missense |
probably benign |
0.24 |
R2350:Vmn2r6
|
UTSW |
3 |
64,463,773 (GRCm39) |
missense |
probably benign |
0.01 |
R2680:Vmn2r6
|
UTSW |
3 |
64,445,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2846:Vmn2r6
|
UTSW |
3 |
64,464,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2860:Vmn2r6
|
UTSW |
3 |
64,454,760 (GRCm39) |
missense |
probably benign |
0.00 |
R2861:Vmn2r6
|
UTSW |
3 |
64,454,760 (GRCm39) |
missense |
probably benign |
0.00 |
R3766:Vmn2r6
|
UTSW |
3 |
64,463,929 (GRCm39) |
missense |
probably benign |
0.19 |
R3870:Vmn2r6
|
UTSW |
3 |
64,464,042 (GRCm39) |
missense |
probably damaging |
0.96 |
R4018:Vmn2r6
|
UTSW |
3 |
64,463,893 (GRCm39) |
missense |
probably benign |
0.05 |
R4024:Vmn2r6
|
UTSW |
3 |
64,445,671 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4026:Vmn2r6
|
UTSW |
3 |
64,445,671 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4227:Vmn2r6
|
UTSW |
3 |
64,445,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R4526:Vmn2r6
|
UTSW |
3 |
64,445,145 (GRCm39) |
missense |
probably benign |
0.32 |
R4570:Vmn2r6
|
UTSW |
3 |
64,467,068 (GRCm39) |
missense |
probably benign |
0.31 |
R4894:Vmn2r6
|
UTSW |
3 |
64,454,829 (GRCm39) |
missense |
probably benign |
|
R4934:Vmn2r6
|
UTSW |
3 |
64,463,766 (GRCm39) |
missense |
probably damaging |
0.99 |
R5057:Vmn2r6
|
UTSW |
3 |
64,445,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5059:Vmn2r6
|
UTSW |
3 |
64,445,044 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5148:Vmn2r6
|
UTSW |
3 |
64,464,015 (GRCm39) |
missense |
probably damaging |
0.99 |
R5155:Vmn2r6
|
UTSW |
3 |
64,445,935 (GRCm39) |
missense |
probably benign |
0.44 |
R5179:Vmn2r6
|
UTSW |
3 |
64,445,411 (GRCm39) |
missense |
probably benign |
0.00 |
R5256:Vmn2r6
|
UTSW |
3 |
64,464,263 (GRCm39) |
missense |
probably benign |
0.33 |
R5861:Vmn2r6
|
UTSW |
3 |
64,463,454 (GRCm39) |
missense |
probably benign |
0.00 |
R5950:Vmn2r6
|
UTSW |
3 |
64,472,652 (GRCm39) |
missense |
probably benign |
0.05 |
R6081:Vmn2r6
|
UTSW |
3 |
64,463,953 (GRCm39) |
missense |
probably benign |
0.25 |
R6173:Vmn2r6
|
UTSW |
3 |
64,467,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Vmn2r6
|
UTSW |
3 |
64,445,424 (GRCm39) |
missense |
probably benign |
0.04 |
R6240:Vmn2r6
|
UTSW |
3 |
64,464,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R6433:Vmn2r6
|
UTSW |
3 |
64,454,801 (GRCm39) |
nonsense |
probably null |
|
R6645:Vmn2r6
|
UTSW |
3 |
64,464,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R6791:Vmn2r6
|
UTSW |
3 |
64,445,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R7265:Vmn2r6
|
UTSW |
3 |
64,464,195 (GRCm39) |
missense |
probably benign |
0.00 |
R7503:Vmn2r6
|
UTSW |
3 |
64,447,372 (GRCm39) |
nonsense |
probably null |
|
R7562:Vmn2r6
|
UTSW |
3 |
64,463,941 (GRCm39) |
missense |
probably benign |
0.00 |
R7584:Vmn2r6
|
UTSW |
3 |
64,472,683 (GRCm39) |
missense |
probably benign |
0.07 |
R7611:Vmn2r6
|
UTSW |
3 |
64,472,563 (GRCm39) |
missense |
probably damaging |
0.98 |
R7759:Vmn2r6
|
UTSW |
3 |
64,463,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R7834:Vmn2r6
|
UTSW |
3 |
64,445,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R7933:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
R7982:Vmn2r6
|
UTSW |
3 |
64,467,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Vmn2r6
|
UTSW |
3 |
64,467,245 (GRCm39) |
missense |
probably benign |
0.40 |
R8074:Vmn2r6
|
UTSW |
3 |
64,455,064 (GRCm39) |
intron |
probably benign |
|
R8169:Vmn2r6
|
UTSW |
3 |
64,447,310 (GRCm39) |
missense |
probably benign |
0.01 |
R8337:Vmn2r6
|
UTSW |
3 |
64,463,526 (GRCm39) |
nonsense |
probably null |
|
R8736:Vmn2r6
|
UTSW |
3 |
64,467,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8962:Vmn2r6
|
UTSW |
3 |
64,463,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R9139:Vmn2r6
|
UTSW |
3 |
64,464,277 (GRCm39) |
missense |
probably benign |
0.12 |
R9206:Vmn2r6
|
UTSW |
3 |
64,467,032 (GRCm39) |
missense |
probably damaging |
0.97 |
R9295:Vmn2r6
|
UTSW |
3 |
64,463,484 (GRCm39) |
missense |
probably benign |
0.00 |
R9332:Vmn2r6
|
UTSW |
3 |
64,454,671 (GRCm39) |
missense |
probably benign |
0.01 |
R9616:Vmn2r6
|
UTSW |
3 |
64,445,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R9663:Vmn2r6
|
UTSW |
3 |
64,463,549 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9685:Vmn2r6
|
UTSW |
3 |
64,464,081 (GRCm39) |
missense |
probably benign |
0.19 |
X0020:Vmn2r6
|
UTSW |
3 |
64,445,871 (GRCm39) |
missense |
probably benign |
|
X0066:Vmn2r6
|
UTSW |
3 |
64,454,799 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r6
|
UTSW |
3 |
64,463,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCGGTGGCTATCCATGTCC -3'
(R):5'- AGGTGGGATATGCTTCTTCCTCC -3'
Sequencing Primer
(F):5'- GTGGCTATCCATGTCCTGTCAG -3'
(R):5'- ATGCTTCTTCCTCCTCAATTTTTAG -3'
|
Posted On |
2014-10-16 |