Incidental Mutation 'R7834:Vmn2r6'
| ID |
605837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r6
|
| Ensembl Gene |
ENSMUSG00000090581 |
| Gene Name |
vomeronasal 2, receptor 6 |
| Synonyms |
EG667069, EG620718 |
| MMRRC Submission |
045888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7834 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64444916-64472855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 64445443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 761
(N761H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165012]
[ENSMUST00000176481]
|
| AlphaFold |
H3BK29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165012
AA Change: N672H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131831
Gene: ENSMUSG00000090581
AA Change: N672H
| 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 damaging
Transcript: ENSMUST00000176481
AA Change: N761H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135148
Gene: ENSMUSG00000090581
AA Change: N761H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,115,068 (GRCm39) |
I626N |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,258,179 (GRCm39) |
Y779F |
possibly damaging |
Het |
| Abcc12 |
C |
T |
8: 87,284,859 (GRCm39) |
C252Y |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,180,535 (GRCm39) |
C521S |
probably damaging |
Het |
| Adcy5 |
C |
A |
16: 34,977,570 (GRCm39) |
H368N |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,390 (GRCm39) |
I2411N |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,294,347 (GRCm39) |
F339S |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,746,005 (GRCm39) |
R153W |
probably damaging |
Het |
| Bmp6 |
T |
C |
13: 38,653,643 (GRCm39) |
F237L |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,587,542 (GRCm39) |
S1628P |
|
Het |
| Ccdc141 |
T |
C |
2: 76,889,889 (GRCm39) |
R468G |
possibly damaging |
Het |
| Cdc40 |
A |
T |
10: 40,758,945 (GRCm39) |
S43T |
probably benign |
Het |
| Celf4 |
A |
G |
18: 25,886,542 (GRCm39) |
M48T |
probably benign |
Het |
| Clec4g |
A |
T |
8: 3,766,500 (GRCm39) |
M267K |
probably damaging |
Het |
| Col6a1 |
G |
T |
10: 76,545,762 (GRCm39) |
S903R |
unknown |
Het |
| Creg2 |
A |
G |
1: 39,689,802 (GRCm39) |
F103L |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,836,630 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,414,774 (GRCm39) |
A756V |
probably benign |
Het |
| Diaph1 |
G |
A |
18: 37,986,762 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,054,044 (GRCm39) |
G2550D |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,233,186 (GRCm39) |
R3396I |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,118,953 (GRCm39) |
T2171A |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,583,925 (GRCm39) |
T113M |
probably damaging |
Het |
| Galnt6 |
G |
T |
15: 100,611,984 (GRCm39) |
S219R |
probably damaging |
Het |
| Gbp6 |
T |
A |
5: 105,421,131 (GRCm39) |
E558V |
probably benign |
Het |
| Gnas |
A |
T |
2: 174,140,783 (GRCm39) |
K377* |
probably null |
Het |
| Hars2 |
T |
C |
18: 36,922,634 (GRCm39) |
I389T |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,091 (GRCm39) |
I123V |
possibly damaging |
Het |
| Igkv6-14 |
A |
T |
6: 70,411,992 (GRCm39) |
N97K |
possibly damaging |
Het |
| Isg20 |
T |
C |
7: 78,569,867 (GRCm39) |
L168P |
probably damaging |
Het |
| Kcna1 |
C |
T |
6: 126,619,703 (GRCm39) |
D206N |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,428,661 (GRCm39) |
I296V |
probably damaging |
Het |
| Kif18a |
G |
A |
2: 109,127,119 (GRCm39) |
R351H |
probably damaging |
Het |
| Klra5 |
A |
T |
6: 129,876,253 (GRCm39) |
|
probably null |
Het |
| Krt9 |
T |
C |
11: 100,083,492 (GRCm39) |
T180A |
probably benign |
Het |
| Lhx8 |
T |
C |
3: 154,017,174 (GRCm39) |
S323G |
probably null |
Het |
| Lpcat2 |
T |
A |
8: 93,644,729 (GRCm39) |
L506H |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,455,647 (GRCm39) |
E1447G |
probably damaging |
Het |
| Mapk8ip2 |
A |
T |
15: 89,345,576 (GRCm39) |
I779F |
probably damaging |
Het |
| Mcmdc2 |
G |
A |
1: 9,982,399 (GRCm39) |
|
probably null |
Het |
| Mrps15 |
G |
A |
4: 125,949,182 (GRCm39) |
E217K |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,412,807 (GRCm39) |
G1918R |
unknown |
Het |
| Mug2 |
T |
C |
6: 122,013,241 (GRCm39) |
I336T |
probably benign |
Het |
| Myh10 |
T |
C |
11: 68,676,652 (GRCm39) |
V878A |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,706,162 (GRCm39) |
|
probably null |
Het |
| Ogdhl |
T |
A |
14: 32,062,666 (GRCm39) |
I584N |
probably benign |
Het |
| Pdzrn3 |
G |
A |
6: 101,128,156 (GRCm39) |
R837C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,382,273 (GRCm39) |
M2626T |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Pnliprp2 |
T |
C |
19: 58,762,591 (GRCm39) |
S399P |
probably benign |
Het |
| Prelp |
T |
C |
1: 133,842,510 (GRCm39) |
T212A |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,610,014 (GRCm39) |
S4T |
probably damaging |
Het |
| Ptprb |
A |
C |
10: 116,175,329 (GRCm39) |
E821A |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,359,419 (GRCm39) |
|
probably benign |
Het |
| Reln |
C |
T |
5: 22,244,633 (GRCm39) |
V782M |
possibly damaging |
Het |
| Rpl3l |
T |
C |
17: 24,952,437 (GRCm39) |
V52A |
possibly damaging |
Het |
| Rrp1b |
T |
C |
17: 32,270,698 (GRCm39) |
V219A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,350,806 (GRCm39) |
I468F |
probably damaging |
Het |
| Safb |
T |
A |
17: 56,900,881 (GRCm39) |
M129K |
unknown |
Het |
| Sall1 |
C |
A |
8: 89,760,002 (GRCm39) |
S34I |
probably benign |
Het |
| Slc2a8 |
C |
T |
2: 32,866,919 (GRCm39) |
G227D |
probably damaging |
Het |
| Slco4a1 |
G |
T |
2: 180,107,470 (GRCm39) |
V295L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,278 (GRCm39) |
Q525L |
possibly damaging |
Het |
| Speg |
C |
T |
1: 75,361,571 (GRCm39) |
T195M |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,014,021 (GRCm39) |
T3071S |
probably benign |
Het |
| Syngr1 |
G |
T |
15: 79,995,818 (GRCm39) |
W119L |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,681 (GRCm39) |
L1951P |
probably damaging |
Het |
| Ulk4 |
C |
T |
9: 121,092,734 (GRCm39) |
E168K |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,465,637 (GRCm39) |
W2735* |
probably null |
Het |
| Usp17lb |
T |
A |
7: 104,490,718 (GRCm39) |
T70S |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,835,143 (GRCm39) |
I2741K |
|
Het |
| Wdr38 |
A |
T |
2: 38,890,196 (GRCm39) |
Q110L |
possibly damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,406 (GRCm39) |
K295R |
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 |
|
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 |
|
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 |
|
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'- TTGGTGCCCAAGTAAGCAGG -3'
(R):5'- CCATTCTTGGAAAGACTGTTTCACTC -3'
Sequencing Primer
(F):5'- GACCAGCATTCCAAAAGTGATAC -3'
(R):5'- CTCGGCTAATATCCATGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation