Incidental Mutation 'R5504:Vmn2r45'
ID |
430824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r45
|
Ensembl Gene |
ENSMUSG00000090662 |
Gene Name |
vomeronasal 2, receptor 45 |
Synonyms |
|
MMRRC Submission |
043065-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5504 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
8474468-8491958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8486176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 371
(K371E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129466
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164845]
|
AlphaFold |
L7N2B5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164845
AA Change: K371E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000129466 Gene: ENSMUSG00000090662 AA Change: K371E
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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
C |
T |
8: 44,078,319 (GRCm39) |
C635Y |
probably damaging |
Het |
Akr1b7 |
A |
G |
6: 34,396,453 (GRCm39) |
|
probably null |
Het |
Amy2a1 |
T |
G |
3: 113,325,318 (GRCm39) |
D92A |
probably benign |
Het |
Angel2 |
A |
G |
1: 190,676,083 (GRCm39) |
T455A |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,119,050 (GRCm39) |
|
probably benign |
Het |
Ankrd40 |
A |
G |
11: 94,219,153 (GRCm39) |
E25G |
probably benign |
Het |
Asb18 |
T |
A |
1: 89,920,746 (GRCm39) |
D136V |
probably damaging |
Het |
Asphd1 |
T |
C |
7: 126,545,350 (GRCm39) |
I336V |
possibly damaging |
Het |
Birc6 |
C |
T |
17: 74,962,208 (GRCm39) |
P58S |
probably damaging |
Het |
Bsx |
A |
T |
9: 40,785,460 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,488,843 (GRCm39) |
L1965P |
probably benign |
Het |
Capza3 |
A |
T |
6: 139,988,165 (GRCm39) |
I255L |
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,575,192 (GRCm39) |
A499E |
probably damaging |
Het |
Cfhr4 |
A |
T |
1: 139,629,558 (GRCm39) |
S749T |
probably benign |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Colgalt2 |
G |
A |
1: 152,276,054 (GRCm39) |
V56M |
possibly damaging |
Het |
Dennd1b |
A |
T |
1: 139,018,246 (GRCm39) |
T197S |
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,914,278 (GRCm39) |
Y1000H |
probably benign |
Het |
Dlg2 |
C |
T |
7: 92,091,865 (GRCm39) |
A910V |
probably damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dock5 |
T |
C |
14: 68,040,535 (GRCm39) |
D884G |
probably benign |
Het |
Fhad1 |
A |
G |
4: 141,712,846 (GRCm39) |
S198P |
probably benign |
Het |
Gabpa |
T |
C |
16: 84,649,446 (GRCm39) |
S218P |
probably benign |
Het |
Gm17654 |
A |
T |
14: 43,815,494 (GRCm39) |
N104K |
unknown |
Het |
Gm4775 |
T |
C |
14: 106,338,389 (GRCm39) |
|
noncoding transcript |
Het |
Gvin3 |
T |
A |
7: 106,201,951 (GRCm39) |
|
noncoding transcript |
Het |
Heatr1 |
T |
A |
13: 12,421,500 (GRCm39) |
S467T |
possibly damaging |
Het |
Hecw1 |
A |
G |
13: 14,515,487 (GRCm39) |
M215T |
probably benign |
Het |
Hmgn2 |
A |
T |
4: 133,694,114 (GRCm39) |
|
probably benign |
Het |
Kncn |
T |
A |
4: 115,742,062 (GRCm39) |
I43N |
possibly damaging |
Het |
Lgals3bp |
G |
T |
11: 118,284,811 (GRCm39) |
T256N |
probably benign |
Het |
Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,178,879 (GRCm39) |
E1304K |
probably damaging |
Het |
Npat |
T |
A |
9: 53,481,564 (GRCm39) |
F1091I |
probably benign |
Het |
Nrcam |
T |
G |
12: 44,610,915 (GRCm39) |
|
probably null |
Het |
Or2a7 |
T |
A |
6: 43,151,572 (GRCm39) |
Y217* |
probably null |
Het |
Or4c114 |
C |
T |
2: 88,905,024 (GRCm39) |
R137Q |
probably benign |
Het |
Or56a4 |
T |
C |
7: 104,806,383 (GRCm39) |
K169E |
probably benign |
Het |
Pappa2 |
A |
G |
1: 158,675,615 (GRCm39) |
S1044P |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,621,222 (GRCm39) |
L1014S |
probably damaging |
Het |
Pear1 |
G |
A |
3: 87,660,002 (GRCm39) |
|
probably benign |
Het |
Piwil2 |
T |
A |
14: 70,627,348 (GRCm39) |
Y797F |
probably benign |
Het |
Ppp2r1b |
T |
G |
9: 50,770,187 (GRCm39) |
L81R |
probably damaging |
Het |
Pxdn |
C |
A |
12: 30,052,800 (GRCm39) |
H812Q |
probably damaging |
Het |
Rad21l |
A |
T |
2: 151,510,357 (GRCm39) |
F33I |
probably damaging |
Het |
Rgs13 |
A |
T |
1: 144,015,358 (GRCm39) |
C120S |
possibly damaging |
Het |
Rp1 |
G |
A |
1: 4,420,113 (GRCm39) |
T333M |
probably damaging |
Het |
Sema6d |
T |
A |
2: 124,499,941 (GRCm39) |
V339E |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,862 (GRCm39) |
Y256N |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,150,743 (GRCm39) |
M65K |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,349,064 (GRCm39) |
K45R |
probably damaging |
Het |
Src |
T |
C |
2: 157,306,641 (GRCm39) |
Y215H |
probably damaging |
Het |
Synj2 |
T |
C |
17: 6,086,750 (GRCm39) |
V384A |
possibly damaging |
Het |
Tmeff1 |
T |
C |
4: 48,650,396 (GRCm39) |
S285P |
probably damaging |
Het |
Vmn2r125 |
A |
G |
4: 156,703,456 (GRCm39) |
D278G |
possibly damaging |
Het |
Zfp866 |
A |
T |
8: 70,218,341 (GRCm39) |
H426Q |
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 |
|
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 |
|
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'- CTTCAAGCAGTGAGAACTGGC -3'
(R):5'- ACAATTGAATTTCCCTACCAGGAAG -3'
Sequencing Primer
(F):5'- GCAGTGAGAACTGGCTCCTTTTC -3'
(R):5'- TGAATTTCCCTACCAGGAAGACAGAC -3'
|
Posted On |
2016-10-05 |