Incidental Mutation 'R0382:Vmn2r45'
| ID |
216121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r45
|
| Ensembl Gene |
ENSMUSG00000090662 |
| Gene Name |
vomeronasal 2, receptor 45 |
| Synonyms |
|
| MMRRC Submission |
038588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R0382 (G1)
|
| Quality Score |
53 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
8474468-8491958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8486098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 397
(N397H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164845]
|
| AlphaFold |
L7N2B5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164845
AA Change: N397H
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129466
Gene: ENSMUSG00000090662
AA Change: N397H
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
T |
6: 86,923,901 (GRCm39) |
Q266L |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,586,650 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
T |
C |
11: 80,069,211 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,545 (GRCm39) |
R662G |
possibly damaging |
Het |
| Celsr3 |
C |
A |
9: 108,706,417 (GRCm39) |
P967T |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,802,680 (GRCm39) |
|
probably benign |
Het |
| Ckm |
T |
C |
7: 19,155,309 (GRCm39) |
*382Q |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,315,403 (GRCm39) |
V73A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,256 (GRCm39) |
V1944E |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,632,754 (GRCm39) |
D1473V |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,435,342 (GRCm39) |
M172T |
probably benign |
Het |
| Dcaf12 |
T |
C |
4: 41,302,672 (GRCm39) |
N161S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,822 (GRCm39) |
Y75C |
probably damaging |
Het |
| Efcab7 |
T |
C |
4: 99,758,966 (GRCm39) |
V388A |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,052 (GRCm39) |
C3780R |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,458,021 (GRCm39) |
*401R |
probably null |
Het |
| Fbxo5 |
G |
T |
10: 5,751,176 (GRCm39) |
Y270* |
probably null |
Het |
| Fnbp1l |
A |
T |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,613,141 (GRCm39) |
S3P |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,001,080 (GRCm39) |
D309G |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,669 (GRCm39) |
D192G |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,444,631 (GRCm39) |
S1080P |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,536,971 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
A |
G |
15: 88,869,796 (GRCm39) |
Y59C |
possibly damaging |
Het |
| Natd1 |
C |
T |
11: 60,797,739 (GRCm39) |
R62H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,931,132 (GRCm39) |
T5835A |
probably damaging |
Het |
| Or4c31 |
A |
T |
2: 88,292,069 (GRCm39) |
R147S |
possibly damaging |
Het |
| Or5j3 |
A |
G |
2: 86,128,937 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or6c66b |
T |
C |
10: 129,376,883 (GRCm39) |
I159T |
probably benign |
Het |
| Or7a38 |
T |
A |
10: 78,752,960 (GRCm39) |
Y95* |
probably null |
Het |
| P2rx2 |
T |
A |
5: 110,489,045 (GRCm39) |
E289V |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,902,596 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,591 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
C |
T |
3: 36,235,118 (GRCm39) |
C253Y |
possibly damaging |
Het |
| Rad21l |
A |
T |
2: 151,487,363 (GRCm39) |
D540E |
probably damaging |
Het |
| Rbm45 |
T |
A |
2: 76,200,555 (GRCm39) |
I28N |
possibly damaging |
Het |
| Rnf170 |
A |
T |
8: 26,615,927 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
G |
A |
15: 80,892,515 (GRCm39) |
W280* |
probably null |
Het |
| Slc9a9 |
A |
T |
9: 94,567,270 (GRCm39) |
H113L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,024,183 (GRCm39) |
C78F |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,360 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn8 |
T |
A |
11: 82,895,382 (GRCm39) |
I475F |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,656,319 (GRCm39) |
|
probably benign |
Het |
| Strbp |
A |
T |
2: 37,490,838 (GRCm39) |
N472K |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,411,760 (GRCm39) |
|
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,150 (GRCm39) |
L664P |
probably damaging |
Het |
| Uap1 |
T |
A |
1: 169,989,051 (GRCm39) |
M124L |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,348,529 (GRCm39) |
N536S |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,619,848 (GRCm39) |
I155F |
probably damaging |
Het |
| Utp4 |
T |
C |
8: 107,649,567 (GRCm39) |
I672T |
probably benign |
Het |
| Vmn1r94 |
A |
T |
7: 19,901,578 (GRCm39) |
M242K |
possibly damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,463 (GRCm39) |
Y395C |
probably damaging |
Het |
| Vps41 |
C |
A |
13: 19,011,897 (GRCm39) |
H335N |
probably benign |
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 |
|
|
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 |
|
|
R4227:Vmn2r45
|
UTSW |
7 |
8,486,277 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- ACACTCTTGGCAGAATCACTGGATAAC -3'
(R):5'- AGACATGGTTCCATCTCAGAAACACAG -3'
Sequencing Primer
(F):5'- AGTCTGGTCATCTGAAAGACTC -3'
(R):5'- GAAGACTCAGCATCTACCTGTAA -3'
|
| Posted On |
2014-07-25 |
Incidental Mutation