Incidental Mutation 'R2050:Vmn2r45'
| ID |
226330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r45
|
| Ensembl Gene |
ENSMUSG00000090662 |
| Gene Name |
vomeronasal 2, receptor 45 |
| Synonyms |
|
| MMRRC Submission |
040057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R2050 (G1)
|
| Quality Score |
130 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
8474468-8491958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8475021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 669
(V669A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164845]
|
| AlphaFold |
L7N2B5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164845
AA Change: V669A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129466
Gene: ENSMUSG00000090662
AA Change: V669A
| 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: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
G |
T |
10: 126,916,130 (GRCm39) |
E214* |
probably null |
Het |
| Angpt2 |
G |
T |
8: 18,755,673 (GRCm39) |
P265T |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,143,443 (GRCm39) |
|
probably null |
Het |
| Arpc1b |
C |
T |
5: 145,062,729 (GRCm39) |
P250S |
probably damaging |
Het |
| Atxn10 |
T |
G |
15: 85,249,513 (GRCm39) |
V115G |
probably benign |
Het |
| Bace2 |
T |
A |
16: 97,213,336 (GRCm39) |
C100S |
probably damaging |
Het |
| Bpifb9b |
T |
C |
2: 154,151,524 (GRCm39) |
S82P |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,300,300 (GRCm39) |
S2157P |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,359,598 (GRCm39) |
I104L |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,643,402 (GRCm39) |
I44T |
possibly damaging |
Het |
| Cdh6 |
T |
A |
15: 13,057,587 (GRCm39) |
M245L |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,914,748 (GRCm39) |
V1075G |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,987,393 (GRCm39) |
F1065L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Colgalt1 |
T |
C |
8: 72,070,330 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
A |
T |
4: 56,835,350 (GRCm39) |
V309D |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,868,527 (GRCm39) |
E659D |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,464,696 (GRCm39) |
Y516H |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,580,127 (GRCm39) |
L3099P |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,520 (GRCm39) |
E1271G |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,530,444 (GRCm39) |
H188R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,148,245 (GRCm39) |
D344G |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,225,448 (GRCm39) |
M119T |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,992 (GRCm39) |
I368V |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,870 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Igsf8 |
T |
A |
1: 172,146,432 (GRCm39) |
Y36N |
probably damaging |
Het |
| Lrp12 |
G |
A |
15: 39,735,985 (GRCm39) |
S649L |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,453,473 (GRCm39) |
S788P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,887,917 (GRCm39) |
D1164G |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,488,921 (GRCm39) |
|
probably null |
Het |
| Myo5a |
G |
A |
9: 75,054,156 (GRCm39) |
E355K |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,743,194 (GRCm39) |
V85E |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,332,123 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
A |
T |
9: 44,174,077 (GRCm39) |
W375R |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,016,686 (GRCm39) |
|
probably null |
Het |
| Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,764,815 (GRCm39) |
M603K |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,524,748 (GRCm39) |
V646E |
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,353,349 (GRCm39) |
S510P |
probably benign |
Het |
| Slc9a1 |
A |
G |
4: 133,143,645 (GRCm39) |
H377R |
probably benign |
Het |
| Snrnp70 |
A |
C |
7: 45,036,724 (GRCm39) |
Y61* |
probably null |
Het |
| Spatc1l |
T |
C |
10: 76,399,892 (GRCm39) |
L138P |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,140,825 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,892,250 (GRCm39) |
S1055T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,083 (GRCm39) |
M209L |
probably damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,228,672 (GRCm39) |
V17I |
probably damaging |
Het |
| Tmem129 |
C |
A |
5: 33,815,126 (GRCm39) |
A16S |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,164,381 (GRCm39) |
E584G |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,193,856 (GRCm39) |
H627N |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,852,031 (GRCm39) |
D820G |
possibly damaging |
Het |
| Trpt1 |
T |
A |
19: 6,975,452 (GRCm39) |
N98K |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,429,069 (GRCm39) |
F857I |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,273,681 (GRCm39) |
I832V |
probably damaging |
Het |
| Zbtb20 |
T |
A |
16: 43,429,975 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
C |
4: 108,575,800 (GRCm39) |
M427R |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,576,500 (GRCm39) |
F194I |
possibly 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 |
|
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'- GTAACTGAGCCCTTGTTGCAC -3'
(R):5'- ATGACACTCCTATTGTGAAGGCC -3'
Sequencing Primer
(F):5'- GAGCCCTTGTTGCACACAATG -3'
(R):5'- CTCCTATTGTGAAGGCCAATAACAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation