Incidental Mutation 'R4227:Vmn2r45'
| ID |
320087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r45
|
| Ensembl Gene |
ENSMUSG00000090662 |
| Gene Name |
vomeronasal 2, receptor 45 |
| Synonyms |
|
| MMRRC Submission |
041047-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
8474468-8491958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8486277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 337
(V337E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164845]
|
| AlphaFold |
L7N2B5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164845
AA Change: V337E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129466
Gene: ENSMUSG00000090662
AA Change: V337E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
154 |
469 |
4.5e-26 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
6.4e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
2.1e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,115,120 (GRCm39) |
T609A |
probably damaging |
Het |
| Agbl2 |
T |
G |
2: 90,631,797 (GRCm39) |
L385R |
probably damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,709,244 (GRCm39) |
D1107V |
probably damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| B9d1 |
C |
G |
11: 61,403,483 (GRCm39) |
R160G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
G |
T |
7: 17,805,678 (GRCm39) |
M288I |
probably benign |
Het |
| Cfhr3 |
T |
A |
1: 139,536,046 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
A |
G |
1: 171,945,682 (GRCm39) |
|
probably benign |
Het |
| Cypt4 |
A |
G |
9: 24,536,788 (GRCm39) |
M93V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,288,989 (GRCm39) |
T178I |
probably damaging |
Het |
| Gm15931 |
A |
G |
7: 4,277,793 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9871 |
A |
G |
6: 101,773,654 (GRCm39) |
|
noncoding transcript |
Het |
| Gpsm1 |
T |
C |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
G |
12: 24,661,850 (GRCm39) |
T510A |
probably benign |
Het |
| Kcnn3 |
A |
C |
3: 89,428,482 (GRCm39) |
H236P |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,081,831 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
G |
T |
2: 25,656,123 (GRCm39) |
M59I |
probably benign |
Het |
| Mrps27 |
C |
G |
13: 99,547,848 (GRCm39) |
P253A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,691 (GRCm39) |
D476V |
probably benign |
Het |
| Naca |
A |
T |
10: 127,877,530 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,349,276 (GRCm39) |
S1351P |
probably damaging |
Het |
| Odf2 |
A |
G |
2: 29,791,296 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
A |
G |
6: 42,932,648 (GRCm39) |
Y72C |
possibly damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,410 (GRCm39) |
K22E |
probably benign |
Het |
| Or52ab7 |
A |
T |
7: 102,978,026 (GRCm39) |
H111L |
probably damaging |
Het |
| Or5w18 |
T |
A |
2: 87,633,219 (GRCm39) |
I162N |
probably damaging |
Het |
| P3h2 |
G |
T |
16: 25,924,203 (GRCm39) |
D77E |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,387,066 (GRCm39) |
M87V |
probably benign |
Het |
| Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,874,223 (GRCm39) |
T503A |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,138,130 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Rasl11b |
T |
A |
5: 74,358,852 (GRCm39) |
I119N |
probably damaging |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Serpina10 |
A |
G |
12: 103,594,674 (GRCm39) |
Y182H |
probably damaging |
Het |
| Serpina1d |
A |
G |
12: 103,733,740 (GRCm39) |
V188A |
probably benign |
Het |
| Setd1a |
C |
A |
7: 127,395,819 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
T |
C |
10: 89,434,575 (GRCm39) |
N184S |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,249,458 (GRCm39) |
S110N |
unknown |
Het |
| Tas1r1 |
T |
C |
4: 152,112,729 (GRCm39) |
I775V |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,966,351 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Try5 |
A |
G |
6: 41,290,401 (GRCm39) |
Y28H |
possibly damaging |
Het |
| Urad |
A |
T |
5: 147,252,100 (GRCm39) |
F117L |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,369 (GRCm39) |
F696L |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,228,282 (GRCm39) |
D455G |
probably damaging |
Het |
|
| Other mutations in Vmn2r45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Vmn2r45
|
APN |
7 |
8,488,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01322:Vmn2r45
|
APN |
7 |
8,484,332 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01402:Vmn2r45
|
APN |
7 |
8,484,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01404:Vmn2r45
|
APN |
7 |
8,484,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01529:Vmn2r45
|
APN |
7 |
8,486,493 (GRCm39) |
missense |
probably benign |
|
|
IGL01596:Vmn2r45
|
APN |
7 |
8,486,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01646:Vmn2r45
|
APN |
7 |
8,486,337 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01819:Vmn2r45
|
APN |
7 |
8,488,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02096:Vmn2r45
|
APN |
7 |
8,484,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02130:Vmn2r45
|
APN |
7 |
8,486,556 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02409:Vmn2r45
|
APN |
7 |
8,488,727 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02517:Vmn2r45
|
APN |
7 |
8,486,185 (GRCm39) |
nonsense |
probably null |
|
|
IGL02633:Vmn2r45
|
APN |
7 |
8,488,728 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02940:Vmn2r45
|
APN |
7 |
8,475,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03281:Vmn2r45
|
APN |
7 |
8,486,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03358:Vmn2r45
|
APN |
7 |
8,474,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Vmn2r45
|
UTSW |
7 |
8,486,513 (GRCm39) |
missense |
probably benign |
|
|
BB014:Vmn2r45
|
UTSW |
7 |
8,486,513 (GRCm39) |
missense |
probably benign |
|
|
R0382:Vmn2r45
|
UTSW |
7 |
8,486,098 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0532:Vmn2r45
|
UTSW |
7 |
8,474,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0932:Vmn2r45
|
UTSW |
7 |
8,478,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1125:Vmn2r45
|
UTSW |
7 |
8,488,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1580:Vmn2r45
|
UTSW |
7 |
8,474,746 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1817:Vmn2r45
|
UTSW |
7 |
8,475,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Vmn2r45
|
UTSW |
7 |
8,475,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Vmn2r45
|
UTSW |
7 |
8,475,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2284:Vmn2r45
|
UTSW |
7 |
8,488,765 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4019:Vmn2r45
|
UTSW |
7 |
8,474,580 (GRCm39) |
nonsense |
probably null |
|
|
R4381:Vmn2r45
|
UTSW |
7 |
8,474,912 (GRCm39) |
nonsense |
probably null |
|
|
R4618:Vmn2r45
|
UTSW |
7 |
8,486,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4624:Vmn2r45
|
UTSW |
7 |
8,484,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Vmn2r45
|
UTSW |
7 |
8,486,535 (GRCm39) |
nonsense |
probably null |
|
|
R4735:Vmn2r45
|
UTSW |
7 |
8,486,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Vmn2r45
|
UTSW |
7 |
8,484,480 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4983:Vmn2r45
|
UTSW |
7 |
8,486,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5246:Vmn2r45
|
UTSW |
7 |
8,486,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5430:Vmn2r45
|
UTSW |
7 |
8,486,333 (GRCm39) |
nonsense |
probably null |
|
|
R5504:Vmn2r45
|
UTSW |
7 |
8,486,176 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5511:Vmn2r45
|
UTSW |
7 |
8,474,832 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5745:Vmn2r45
|
UTSW |
7 |
8,486,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5814:Vmn2r45
|
UTSW |
7 |
8,474,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6223:Vmn2r45
|
UTSW |
7 |
8,486,301 (GRCm39) |
missense |
probably benign |
|
|
R6267:Vmn2r45
|
UTSW |
7 |
8,475,207 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6623:Vmn2r45
|
UTSW |
7 |
8,474,500 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6999:Vmn2r45
|
UTSW |
7 |
8,486,219 (GRCm39) |
missense |
probably benign |
|
|
R7242:Vmn2r45
|
UTSW |
7 |
8,488,612 (GRCm39) |
nonsense |
probably null |
|
|
R7491:Vmn2r45
|
UTSW |
7 |
8,484,342 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7620:Vmn2r45
|
UTSW |
7 |
8,486,222 (GRCm39) |
nonsense |
probably null |
|
|
R7719:Vmn2r45
|
UTSW |
7 |
8,486,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7720:Vmn2r45
|
UTSW |
7 |
8,486,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7853:Vmn2r45
|
UTSW |
7 |
8,485,987 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7873:Vmn2r45
|
UTSW |
7 |
8,486,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Vmn2r45
|
UTSW |
7 |
8,486,409 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7927:Vmn2r45
|
UTSW |
7 |
8,486,513 (GRCm39) |
missense |
probably benign |
|
|
R8684:Vmn2r45
|
UTSW |
7 |
8,486,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8780:Vmn2r45
|
UTSW |
7 |
8,484,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8811:Vmn2r45
|
UTSW |
7 |
8,474,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8893:Vmn2r45
|
UTSW |
7 |
8,488,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Vmn2r45
|
UTSW |
7 |
8,474,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9208:Vmn2r45
|
UTSW |
7 |
8,486,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9327:Vmn2r45
|
UTSW |
7 |
8,474,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9586:Vmn2r45
|
UTSW |
7 |
8,486,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9599:Vmn2r45
|
UTSW |
7 |
8,478,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
U24488:Vmn2r45
|
UTSW |
7 |
8,475,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Vmn2r45
|
UTSW |
7 |
8,474,484 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCTCATGGAGGGCATGG -3'
(R):5'- ACCAAATTGTGATGTCATCCAC -3'
Sequencing Primer
(F):5'- ATGGGCTATGGCATGCAC -3'
(R):5'- CCAAATTGTGATGTCATCCACAAATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation