Incidental Mutation 'R7720:Vmn2r45'
ID |
595169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r45
|
Ensembl Gene |
ENSMUSG00000090662 |
Gene Name |
vomeronasal 2, receptor 45 |
Synonyms |
|
MMRRC Submission |
067892-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R7720 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
8474468-8491958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 8486460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 276
(E276V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129466
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164845]
|
AlphaFold |
L7N2B5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164845
AA Change: E276V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129466 Gene: ENSMUSG00000090662 AA Change: E276V
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap2 |
A |
G |
10: 126,926,957 (GRCm39) |
D1018G |
probably damaging |
Het |
Atm |
T |
C |
9: 53,433,539 (GRCm39) |
N237S |
possibly damaging |
Het |
Card6 |
G |
T |
15: 5,127,905 (GRCm39) |
Q1164K |
unknown |
Het |
Ccdc202 |
A |
G |
14: 96,119,548 (GRCm39) |
R102G |
probably benign |
Het |
Cped1 |
G |
A |
6: 22,222,430 (GRCm39) |
C730Y |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 15,981,108 (GRCm39) |
L2770Q |
probably damaging |
Het |
Ctsw |
T |
C |
19: 5,517,072 (GRCm39) |
T87A |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,856,974 (GRCm39) |
I1269T |
probably damaging |
Het |
F11 |
T |
C |
8: 45,705,127 (GRCm39) |
E138G |
possibly damaging |
Het |
Fam124b |
A |
G |
1: 80,177,974 (GRCm39) |
S342P |
probably damaging |
Het |
Garin2 |
T |
C |
12: 78,758,907 (GRCm39) |
S76P |
probably damaging |
Het |
Gipr |
T |
C |
7: 18,896,884 (GRCm39) |
I129V |
probably benign |
Het |
Gria4 |
A |
T |
9: 4,464,288 (GRCm39) |
V558D |
probably damaging |
Het |
Gsdme |
C |
T |
6: 50,206,288 (GRCm39) |
G185E |
probably damaging |
Het |
Hapstr1 |
T |
A |
16: 8,660,966 (GRCm39) |
C148S |
probably damaging |
Het |
Hgd |
T |
A |
16: 37,413,797 (GRCm39) |
D86E |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,522,460 (GRCm39) |
H3480L |
probably benign |
Het |
Hs2st1 |
T |
C |
3: 144,159,783 (GRCm39) |
N127D |
probably damaging |
Het |
Ilf3 |
A |
G |
9: 21,310,833 (GRCm39) |
N599S |
possibly damaging |
Het |
Itsn1 |
G |
A |
16: 91,664,971 (GRCm39) |
G1132R |
unknown |
Het |
Jakmip2 |
A |
G |
18: 43,704,973 (GRCm39) |
S343P |
possibly damaging |
Het |
Kif1b |
A |
G |
4: 149,266,812 (GRCm39) |
V1670A |
probably benign |
Het |
Lman2 |
A |
T |
13: 55,500,890 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
A |
T |
17: 75,692,119 (GRCm39) |
Y1579F |
probably damaging |
Het |
Mon2 |
G |
A |
10: 122,868,493 (GRCm39) |
A520V |
probably benign |
Het |
Mrpl10 |
T |
G |
11: 96,938,363 (GRCm39) |
V171G |
possibly damaging |
Het |
Mrps27 |
A |
T |
13: 99,537,838 (GRCm39) |
T153S |
unknown |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Nlrp10 |
A |
G |
7: 108,523,695 (GRCm39) |
V595A |
probably benign |
Het |
Nol4 |
A |
T |
18: 23,173,080 (GRCm39) |
M7K |
probably benign |
Het |
Oasl1 |
G |
A |
5: 115,067,980 (GRCm39) |
S188N |
probably damaging |
Het |
Or2d3c |
C |
A |
7: 106,526,618 (GRCm39) |
G16V |
probably benign |
Het |
Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
Pcdhga2 |
A |
G |
18: 37,802,993 (GRCm39) |
Y279C |
probably damaging |
Het |
Pfpl |
C |
T |
19: 12,406,538 (GRCm39) |
A263V |
probably benign |
Het |
Phf3 |
T |
G |
1: 30,868,938 (GRCm39) |
K703N |
probably damaging |
Het |
Pik3ca |
C |
G |
3: 32,490,367 (GRCm39) |
P5A |
probably damaging |
Het |
Plekha6 |
T |
C |
1: 133,221,445 (GRCm39) |
V987A |
probably damaging |
Het |
Ppp3ca |
T |
A |
3: 136,596,250 (GRCm39) |
I305N |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,252,161 (GRCm39) |
K1069E |
possibly damaging |
Het |
Prss50 |
T |
C |
9: 110,690,403 (GRCm39) |
V182A |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,211,703 (GRCm38) |
N995S |
probably benign |
Het |
Robo2 |
C |
A |
16: 73,693,903 (GRCm39) |
G1375V |
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,560,864 (GRCm39) |
Y325C |
possibly damaging |
Het |
Semp2l1 |
T |
C |
1: 32,585,178 (GRCm39) |
D244G |
probably benign |
Het |
Shcbp1 |
A |
C |
8: 4,798,720 (GRCm39) |
S400A |
probably damaging |
Het |
Shfl |
C |
T |
9: 20,780,155 (GRCm39) |
|
probably benign |
Het |
Sirpb1c |
T |
A |
3: 15,886,236 (GRCm39) |
Y380F |
probably benign |
Het |
Tbl2 |
G |
C |
5: 135,188,329 (GRCm39) |
L374F |
probably damaging |
Het |
Tpr |
C |
A |
1: 150,305,283 (GRCm39) |
A1524E |
possibly damaging |
Het |
Vps16 |
C |
T |
2: 130,283,623 (GRCm39) |
Q606* |
probably null |
Het |
Vstm5 |
A |
T |
9: 15,150,652 (GRCm39) |
Q29L |
probably benign |
Het |
Wipi1 |
G |
T |
11: 109,473,249 (GRCm39) |
S250Y |
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 |
|
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 |
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'- TGAGATGGAACCATGTCTGTAC -3'
(R):5'- ATTGGCCTTGTCATCCCAGATG -3'
Sequencing Primer
(F):5'- AAATCACACCATGGTGGG -3'
(R):5'- TCATCCCAGATGATGACCAAGG -3'
|
Posted On |
2019-11-12 |