Incidental Mutation 'R2680:Vmn2r6'
ID |
250872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r6
|
Ensembl Gene |
ENSMUSG00000090581 |
Gene Name |
vomeronasal 2, receptor 6 |
Synonyms |
EG667069, EG620718 |
MMRRC Submission |
040433-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R2680 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
64444916-64472855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 64445707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 673
(S673A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165012]
[ENSMUST00000176481]
|
AlphaFold |
H3BK29 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165012
AA Change: S584A
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131831 Gene: ENSMUSG00000090581 AA Change: S584A
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 |
possibly damaging
Transcript: ENSMUST00000176481
AA Change: S673A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135148 Gene: ENSMUSG00000090581 AA Change: S673A
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
BC024139 |
A |
G |
15: 76,005,939 (GRCm39) |
W421R |
probably damaging |
Het |
Car11 |
T |
C |
7: 45,351,909 (GRCm39) |
S113P |
probably benign |
Het |
Ccdc146 |
C |
T |
5: 21,510,267 (GRCm39) |
A582T |
possibly damaging |
Het |
Cct8l1 |
A |
G |
5: 25,722,133 (GRCm39) |
T283A |
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,419,043 (GRCm39) |
I1118V |
probably benign |
Het |
Copa |
C |
T |
1: 171,948,971 (GRCm39) |
Q1199* |
probably null |
Het |
Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
Cspp1 |
A |
G |
1: 10,174,530 (GRCm39) |
D661G |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,466,474 (GRCm39) |
Q729R |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,924,751 (GRCm39) |
I2168V |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,609,681 (GRCm39) |
R2821H |
probably damaging |
Het |
Ercc5 |
T |
C |
1: 44,196,133 (GRCm39) |
V42A |
probably benign |
Het |
Evc |
A |
G |
5: 37,467,581 (GRCm39) |
V566A |
probably benign |
Het |
Fcrl2 |
T |
C |
3: 87,164,656 (GRCm39) |
Y290C |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,539,364 (GRCm39) |
R171G |
probably damaging |
Het |
Galnt17 |
G |
A |
5: 131,140,661 (GRCm39) |
P152L |
probably damaging |
Het |
Gfi1 |
A |
G |
5: 107,869,297 (GRCm39) |
L245P |
probably damaging |
Het |
Heatr4 |
T |
C |
12: 84,027,237 (GRCm39) |
K7E |
possibly damaging |
Het |
Ifit3b |
A |
G |
19: 34,589,705 (GRCm39) |
N294D |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,541,265 (GRCm39) |
Y230C |
probably damaging |
Het |
Igsf10 |
C |
T |
3: 59,232,875 (GRCm39) |
V1953I |
probably benign |
Het |
Ikzf5 |
T |
C |
7: 130,998,490 (GRCm39) |
D14G |
probably damaging |
Het |
Il12rb2 |
T |
A |
6: 67,331,789 (GRCm39) |
T259S |
possibly damaging |
Het |
Itgae |
T |
A |
11: 73,005,752 (GRCm39) |
D305E |
probably damaging |
Het |
Kif23 |
A |
C |
9: 61,844,758 (GRCm39) |
D90E |
probably benign |
Het |
Kprp |
A |
G |
3: 92,731,770 (GRCm39) |
F427L |
unknown |
Het |
Lmnb1 |
T |
A |
18: 56,864,177 (GRCm39) |
Y261N |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,016,981 (GRCm39) |
V17A |
probably benign |
Het |
Mfap4 |
T |
C |
11: 61,378,057 (GRCm39) |
Y190H |
probably benign |
Het |
Mlh1 |
T |
C |
9: 111,065,085 (GRCm39) |
|
probably null |
Het |
Mocos |
C |
A |
18: 24,809,686 (GRCm39) |
Q430K |
probably damaging |
Het |
Ndst2 |
A |
G |
14: 20,774,822 (GRCm39) |
F794L |
probably damaging |
Het |
Nedd4l |
A |
T |
18: 65,296,201 (GRCm39) |
I197F |
possibly damaging |
Het |
Nefm |
A |
G |
14: 68,361,235 (GRCm39) |
L343P |
probably damaging |
Het |
Nfatc4 |
A |
G |
14: 56,070,291 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
T |
A |
7: 26,148,655 (GRCm39) |
|
probably null |
Het |
Nlrp4f |
A |
T |
13: 65,342,157 (GRCm39) |
L496* |
probably null |
Het |
Nom1 |
T |
C |
5: 29,648,415 (GRCm39) |
F654S |
probably damaging |
Het |
Or4k2 |
A |
T |
14: 50,424,304 (GRCm39) |
Y123* |
probably null |
Het |
Pcdhac2 |
A |
G |
18: 37,278,639 (GRCm39) |
K540E |
possibly damaging |
Het |
Pde4dip |
T |
C |
3: 97,608,933 (GRCm39) |
N1974S |
possibly damaging |
Het |
Pik3c3 |
T |
C |
18: 30,477,131 (GRCm39) |
|
probably null |
Het |
Pik3ca |
C |
T |
3: 32,490,697 (GRCm39) |
R115* |
probably null |
Het |
Pik3ca |
T |
C |
3: 32,498,034 (GRCm39) |
I492T |
probably benign |
Het |
Ppp1ca |
G |
A |
19: 4,244,594 (GRCm39) |
E218K |
possibly damaging |
Het |
Prex1 |
G |
T |
2: 166,443,692 (GRCm39) |
D492E |
possibly damaging |
Het |
Scaf8 |
T |
C |
17: 3,247,866 (GRCm39) |
V1063A |
possibly damaging |
Het |
Scn3a |
G |
T |
2: 65,366,880 (GRCm39) |
N47K |
probably benign |
Het |
Sec61a2 |
G |
T |
2: 5,878,556 (GRCm39) |
N348K |
probably benign |
Het |
Sh3rf2 |
A |
G |
18: 42,234,715 (GRCm39) |
E166G |
probably damaging |
Het |
Slc19a2 |
C |
A |
1: 164,076,982 (GRCm39) |
T54K |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,249,113 (GRCm39) |
I765F |
probably damaging |
Het |
Snap91 |
A |
T |
9: 86,761,603 (GRCm39) |
M1K |
probably null |
Het |
Spef1l |
T |
C |
7: 139,558,474 (GRCm39) |
D41G |
probably damaging |
Het |
Strc |
T |
C |
2: 121,195,592 (GRCm39) |
H1619R |
probably damaging |
Het |
Tbl1xr1 |
C |
T |
3: 22,245,615 (GRCm39) |
T207M |
possibly damaging |
Het |
Tchp |
T |
C |
5: 114,847,580 (GRCm39) |
|
probably null |
Het |
Tln1 |
A |
T |
4: 43,539,668 (GRCm39) |
F1581Y |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,922,594 (GRCm39) |
V2469A |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn1r225 |
T |
A |
17: 20,723,055 (GRCm39) |
F165L |
probably benign |
Het |
Vmn2r13 |
T |
C |
5: 109,322,178 (GRCm39) |
D173G |
possibly damaging |
Het |
Vta1 |
G |
A |
10: 14,581,171 (GRCm39) |
|
probably benign |
Het |
Wwc1 |
T |
C |
11: 35,766,756 (GRCm39) |
T500A |
probably benign |
Het |
Zfp784 |
T |
A |
7: 5,039,116 (GRCm39) |
Q147H |
possibly 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 |
R2262: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 |
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'- GGTGCATGGATATTAGCCGAG -3'
(R):5'- GAAAATGACTGGTCCAATGCGG -3'
Sequencing Primer
(F):5'- GCCGAGTTTTAGATATGGAAATCCTG -3'
(R):5'- GCCAAAGCATGTGGAATTCCTTG -3'
|
Posted On |
2014-12-04 |