Incidental Mutation 'R4570:Vmn2r6'
| ID |
342061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r6
|
| Ensembl Gene |
ENSMUSG00000090581 |
| Gene Name |
vomeronasal 2, receptor 6 |
| Synonyms |
EG667069, EG620718 |
| MMRRC Submission |
041794-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R4570 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64444916-64472855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64467068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 144
(W144R)
|
| 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: W55R
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131831
Gene: ENSMUSG00000090581
AA Change: W55R
| 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: W144R
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135148
Gene: ENSMUSG00000090581
AA Change: W144R
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,842,528 (GRCm39) |
D1154G |
probably damaging |
Het |
| Acsl5 |
T |
A |
19: 55,280,206 (GRCm39) |
I493N |
probably damaging |
Het |
| Adgrf5 |
T |
A |
17: 43,756,006 (GRCm39) |
S450T |
probably benign |
Het |
| Ak2 |
T |
C |
4: 128,895,960 (GRCm39) |
V79A |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arfgef2 |
C |
A |
2: 166,698,458 (GRCm39) |
Q643K |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,967,496 (GRCm39) |
D605G |
probably damaging |
Het |
| Ccr5 |
C |
T |
9: 123,924,912 (GRCm39) |
Q172* |
probably null |
Het |
| Cpxm2 |
T |
C |
7: 131,745,435 (GRCm39) |
D130G |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,454,725 (GRCm39) |
V257D |
probably damaging |
Het |
| Cxcl12 |
T |
C |
6: 117,145,633 (GRCm39) |
V6A |
probably benign |
Het |
| Cyp19a1 |
G |
A |
9: 54,100,607 (GRCm39) |
P27S |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,985,427 (GRCm39) |
Y225H |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,529,221 (GRCm39) |
K317* |
probably null |
Het |
| Edil3 |
A |
G |
13: 89,280,016 (GRCm39) |
|
probably benign |
Het |
| Enpep |
A |
T |
3: 129,075,197 (GRCm39) |
I707K |
possibly damaging |
Het |
| Fcrlb |
A |
G |
1: 170,740,189 (GRCm39) |
|
probably null |
Het |
| Flt1 |
C |
T |
5: 147,531,423 (GRCm39) |
A847T |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
| Gemin6 |
C |
T |
17: 80,535,498 (GRCm39) |
R153* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,151,839 (GRCm39) |
M112L |
probably benign |
Het |
| Gm10267 |
C |
T |
18: 44,289,492 (GRCm39) |
M79I |
probably benign |
Het |
| Gm10803 |
A |
G |
2: 93,394,597 (GRCm39) |
Y123C |
unknown |
Het |
| Gm28040 |
C |
A |
1: 133,257,119 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,056,570 (GRCm39) |
|
noncoding transcript |
Het |
| Gprasp1 |
C |
T |
X: 134,703,592 (GRCm39) |
R1262C |
probably damaging |
Het |
| Hba-a2 |
T |
C |
11: 32,247,200 (GRCm39) |
Y141H |
probably damaging |
Het |
| Hmbox1 |
T |
A |
14: 65,061,111 (GRCm39) |
I388F |
possibly damaging |
Het |
| Hs6st1 |
G |
T |
1: 36,142,628 (GRCm39) |
V188L |
possibly damaging |
Het |
| Ipmk |
T |
G |
10: 71,208,569 (GRCm39) |
H118Q |
probably benign |
Het |
| Jhy |
A |
G |
9: 40,822,389 (GRCm39) |
I583T |
probably benign |
Het |
| Kcna2 |
A |
G |
3: 107,012,111 (GRCm39) |
I231V |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,667,439 (GRCm39) |
T367A |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,491,847 (GRCm39) |
C197* |
probably null |
Het |
| Klra2 |
C |
A |
6: 131,220,900 (GRCm39) |
C54F |
probably damaging |
Het |
| Lcn9 |
T |
C |
2: 25,713,591 (GRCm39) |
L39P |
probably benign |
Het |
| Lct |
T |
C |
1: 128,227,641 (GRCm39) |
N1284S |
probably benign |
Het |
| Map6 |
T |
G |
7: 98,985,763 (GRCm39) |
S556A |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,741,812 (GRCm39) |
T3861K |
probably damaging |
Het |
| Mrps12 |
A |
G |
7: 28,439,388 (GRCm39) |
L109P |
probably damaging |
Het |
| Mucl3 |
T |
C |
17: 35,948,883 (GRCm39) |
T239A |
possibly damaging |
Het |
| Mybphl |
G |
A |
3: 108,272,347 (GRCm39) |
C12Y |
possibly damaging |
Het |
| Nek9 |
T |
C |
12: 85,367,508 (GRCm39) |
K388E |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,971,647 (GRCm39) |
V9A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,897,654 (GRCm39) |
|
probably null |
Het |
| Or2h2 |
T |
C |
17: 37,396,471 (GRCm39) |
I195M |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,423,603 (GRCm39) |
I233N |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,451,747 (GRCm39) |
I2183F |
probably damaging |
Het |
| Ppara |
A |
G |
15: 85,671,398 (GRCm39) |
I100V |
probably benign |
Het |
| Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
| Rpl5-ps2 |
G |
T |
2: 154,546,156 (GRCm39) |
|
noncoding transcript |
Het |
| Scmh1 |
T |
A |
4: 120,385,495 (GRCm39) |
H623Q |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,313,902 (GRCm39) |
S1939P |
possibly damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,313,101 (GRCm39) |
|
probably null |
Het |
| Slc7a4 |
G |
A |
16: 17,392,141 (GRCm39) |
T431I |
probably benign |
Het |
| Snupn |
A |
G |
9: 56,885,346 (GRCm39) |
E217G |
probably benign |
Het |
| Spopl |
T |
A |
2: 23,427,497 (GRCm39) |
K212* |
probably null |
Het |
| Strn |
T |
A |
17: 78,984,801 (GRCm39) |
T281S |
possibly damaging |
Het |
| Supt3 |
T |
A |
17: 45,352,116 (GRCm39) |
L265* |
probably null |
Het |
| Taf5l |
G |
A |
8: 124,724,289 (GRCm39) |
T510M |
probably damaging |
Het |
| Tapbp |
C |
A |
17: 34,145,427 (GRCm39) |
D415E |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,178,972 (GRCm39) |
D702E |
probably benign |
Het |
| Tfap2c |
C |
A |
2: 172,399,247 (GRCm39) |
P473Q |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,913,909 (GRCm39) |
N1301S |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,237,481 (GRCm39) |
Q179R |
probably damaging |
Het |
| Txnrd2 |
A |
G |
16: 18,287,554 (GRCm39) |
N335S |
probably benign |
Het |
| Uggt1 |
T |
A |
1: 36,189,154 (GRCm39) |
D1444V |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,338,807 (GRCm39) |
L57P |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,354 (GRCm39) |
M284K |
probably benign |
Het |
| Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
| Zfp703 |
T |
C |
8: 27,468,981 (GRCm39) |
V215A |
probably benign |
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 |
|
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'- TGCAGCATCTCTATACCTCATAG -3'
(R):5'- TCCGCTGGATGAAAACCATG -3'
Sequencing Primer
(F):5'- TGAGTGCATAGAGATTCACCTGCC -3'
(R):5'- GCTGGATGAAAACCATGATCCAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation