Incidental Mutation 'R2038:Vmn2r54'
ID |
225295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r54
|
Ensembl Gene |
ENSMUSG00000096593 |
Gene Name |
vomeronasal 2, receptor 54 |
Synonyms |
|
MMRRC Submission |
040045-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R2038 (G1)
|
Quality Score |
82 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 12363637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 419
(G419R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
AlphaFold |
A0A3B2W422 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086210
AA Change: G419R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083386 Gene: ENSMUSG00000096593 AA Change: G419R
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
5 |
397 |
4.3e-58 |
PFAM |
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
Pfam:7tm_3
|
526 |
763 |
1.2e-54 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
T |
C |
8: 125,389,762 (GRCm39) |
Y54C |
probably damaging |
Het |
Adgrf4 |
A |
T |
17: 42,978,754 (GRCm39) |
H196Q |
probably damaging |
Het |
Astn1 |
T |
G |
1: 158,484,690 (GRCm39) |
S918A |
probably benign |
Het |
Cd79a |
A |
T |
7: 24,598,782 (GRCm39) |
K110N |
probably benign |
Het |
Cdc34b |
C |
T |
11: 94,633,114 (GRCm39) |
Q105* |
probably null |
Het |
Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
Clpx |
G |
A |
9: 65,224,775 (GRCm39) |
G168R |
probably damaging |
Het |
Col8a2 |
T |
C |
4: 126,205,108 (GRCm39) |
|
probably benign |
Het |
Ddx27 |
G |
A |
2: 166,875,675 (GRCm39) |
E669K |
probably damaging |
Het |
Dnah8 |
A |
T |
17: 30,977,255 (GRCm39) |
I2898F |
probably damaging |
Het |
Dus2 |
T |
C |
8: 106,775,294 (GRCm39) |
Y274H |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 6,967,226 (GRCm39) |
S4073P |
probably damaging |
Het |
Dynlrb2 |
G |
A |
8: 117,241,549 (GRCm39) |
R31Q |
possibly damaging |
Het |
Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
Fhdc1 |
A |
T |
3: 84,351,868 (GRCm39) |
L1119Q |
probably benign |
Het |
H2-T10 |
T |
C |
17: 36,430,317 (GRCm39) |
K212E |
probably benign |
Het |
H60b |
A |
T |
10: 22,162,114 (GRCm39) |
N113I |
probably benign |
Het |
Hace1 |
A |
C |
10: 45,576,721 (GRCm39) |
K798Q |
probably benign |
Het |
Hdac7 |
C |
T |
15: 97,696,151 (GRCm39) |
R631H |
probably damaging |
Het |
Kat7 |
T |
A |
11: 95,190,928 (GRCm39) |
I153F |
probably benign |
Het |
Lman1 |
T |
C |
18: 66,131,681 (GRCm39) |
T101A |
probably benign |
Het |
Mapk8 |
A |
T |
14: 33,110,893 (GRCm39) |
C245* |
probably null |
Het |
Mfhas1 |
T |
A |
8: 36,058,431 (GRCm39) |
W969R |
probably damaging |
Het |
Mlxipl |
A |
T |
5: 135,135,853 (GRCm39) |
D26V |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,265,016 (GRCm39) |
V53A |
probably benign |
Het |
Msl2 |
C |
A |
9: 100,979,183 (GRCm39) |
A519D |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,245,503 (GRCm39) |
S176G |
probably benign |
Het |
Ninl |
T |
A |
2: 150,817,763 (GRCm39) |
K134* |
probably null |
Het |
Or10d1 |
A |
G |
9: 39,484,283 (GRCm39) |
S91P |
probably damaging |
Het |
Or1e25 |
T |
A |
11: 73,494,239 (GRCm39) |
Y278N |
probably damaging |
Het |
Or4a68 |
C |
A |
2: 89,269,689 (GRCm39) |
M311I |
probably benign |
Het |
Pabpn1 |
T |
G |
14: 55,134,609 (GRCm39) |
I250S |
probably damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,542,539 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
T |
C |
12: 11,507,025 (GRCm39) |
S316P |
possibly damaging |
Het |
Scn7a |
C |
A |
2: 66,567,780 (GRCm39) |
W271C |
probably damaging |
Het |
Set |
T |
C |
2: 29,960,212 (GRCm39) |
S182P |
probably benign |
Het |
Sez6l |
T |
C |
5: 112,620,618 (GRCm39) |
T321A |
possibly damaging |
Het |
Sfpq |
A |
T |
4: 126,915,295 (GRCm39) |
H29L |
unknown |
Het |
Slc33a1 |
A |
G |
3: 63,855,577 (GRCm39) |
L356P |
probably damaging |
Het |
Sptbn1 |
C |
G |
11: 30,109,293 (GRCm39) |
|
probably null |
Het |
Srrd |
C |
T |
5: 112,486,316 (GRCm39) |
G179D |
probably benign |
Het |
Taf4b |
T |
C |
18: 14,940,456 (GRCm39) |
S312P |
probably damaging |
Het |
Tgfbrap1 |
A |
T |
1: 43,093,794 (GRCm39) |
L566* |
probably null |
Het |
Tln2 |
T |
A |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
Ttc27 |
T |
C |
17: 75,163,497 (GRCm39) |
F702L |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,884,887 (GRCm39) |
S3187G |
probably damaging |
Het |
Vps13d |
C |
A |
4: 144,907,685 (GRCm39) |
|
probably null |
Het |
Vps35l |
T |
C |
7: 118,411,097 (GRCm39) |
F677L |
probably damaging |
Het |
Zfp568 |
A |
T |
7: 29,688,507 (GRCm39) |
E23V |
probably null |
Het |
|
Other mutations in Vmn2r54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Vmn2r54
|
APN |
7 |
12,365,840 (GRCm39) |
splice site |
probably benign |
|
IGL01778:Vmn2r54
|
APN |
7 |
12,366,009 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01998:Vmn2r54
|
APN |
7 |
12,349,227 (GRCm39) |
missense |
probably benign |
|
IGL02028:Vmn2r54
|
APN |
7 |
12,366,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02064:Vmn2r54
|
APN |
7 |
12,349,533 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02238:Vmn2r54
|
APN |
7 |
12,369,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Vmn2r54
|
APN |
7 |
12,366,355 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03120:Vmn2r54
|
APN |
7 |
12,349,314 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Vmn2r54
|
UTSW |
7 |
12,363,669 (GRCm39) |
missense |
probably benign |
0.06 |
R0212:Vmn2r54
|
UTSW |
7 |
12,366,424 (GRCm39) |
missense |
probably benign |
|
R0360:Vmn2r54
|
UTSW |
7 |
12,349,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Vmn2r54
|
UTSW |
7 |
12,366,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1673:Vmn2r54
|
UTSW |
7 |
12,350,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1738:Vmn2r54
|
UTSW |
7 |
12,369,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1856:Vmn2r54
|
UTSW |
7 |
12,366,238 (GRCm39) |
missense |
probably benign |
|
R2012:Vmn2r54
|
UTSW |
7 |
12,349,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R2160:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably benign |
0.29 |
R2397:Vmn2r54
|
UTSW |
7 |
12,349,578 (GRCm39) |
missense |
probably damaging |
0.98 |
R2430:Vmn2r54
|
UTSW |
7 |
12,365,933 (GRCm39) |
missense |
probably damaging |
0.99 |
R2829:Vmn2r54
|
UTSW |
7 |
12,349,617 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2975:Vmn2r54
|
UTSW |
7 |
12,369,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3005:Vmn2r54
|
UTSW |
7 |
12,349,221 (GRCm39) |
missense |
probably benign |
0.28 |
R3725:Vmn2r54
|
UTSW |
7 |
12,366,223 (GRCm39) |
missense |
probably benign |
0.42 |
R4486:Vmn2r54
|
UTSW |
7 |
12,366,199 (GRCm39) |
nonsense |
probably null |
|
R4881:Vmn2r54
|
UTSW |
7 |
12,363,598 (GRCm39) |
missense |
probably benign |
0.00 |
R4907:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
R5536:Vmn2r54
|
UTSW |
7 |
12,366,343 (GRCm39) |
missense |
probably benign |
0.03 |
R5637:Vmn2r54
|
UTSW |
7 |
12,349,296 (GRCm39) |
missense |
probably benign |
0.41 |
R5703:Vmn2r54
|
UTSW |
7 |
12,363,594 (GRCm39) |
missense |
probably benign |
0.22 |
R5769:Vmn2r54
|
UTSW |
7 |
12,349,209 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5972:Vmn2r54
|
UTSW |
7 |
12,369,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R5972:Vmn2r54
|
UTSW |
7 |
12,349,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R5977:Vmn2r54
|
UTSW |
7 |
12,366,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Vmn2r54
|
UTSW |
7 |
12,366,205 (GRCm39) |
missense |
probably damaging |
0.98 |
R6176:Vmn2r54
|
UTSW |
7 |
12,349,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Vmn2r54
|
UTSW |
7 |
12,365,883 (GRCm39) |
missense |
probably benign |
0.00 |
R6371:Vmn2r54
|
UTSW |
7 |
12,349,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6804:Vmn2r54
|
UTSW |
7 |
12,363,792 (GRCm39) |
missense |
probably benign |
|
R6886:Vmn2r54
|
UTSW |
7 |
12,366,080 (GRCm39) |
missense |
probably benign |
0.02 |
R7041:Vmn2r54
|
UTSW |
7 |
12,363,751 (GRCm39) |
missense |
probably damaging |
0.99 |
R7058:Vmn2r54
|
UTSW |
7 |
12,349,722 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7113:Vmn2r54
|
UTSW |
7 |
12,350,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7124:Vmn2r54
|
UTSW |
7 |
12,356,078 (GRCm39) |
missense |
probably benign |
0.00 |
R7126:Vmn2r54
|
UTSW |
7 |
12,366,088 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7236:Vmn2r54
|
UTSW |
7 |
12,365,917 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7337:Vmn2r54
|
UTSW |
7 |
12,356,044 (GRCm39) |
missense |
probably benign |
0.00 |
R7406:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
R7634:Vmn2r54
|
UTSW |
7 |
12,349,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:Vmn2r54
|
UTSW |
7 |
12,366,196 (GRCm39) |
missense |
probably damaging |
0.98 |
R8139:Vmn2r54
|
UTSW |
7 |
12,349,743 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8158:Vmn2r54
|
UTSW |
7 |
12,349,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R8179:Vmn2r54
|
UTSW |
7 |
12,366,018 (GRCm39) |
nonsense |
probably null |
|
R8440:Vmn2r54
|
UTSW |
7 |
12,350,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8712:Vmn2r54
|
UTSW |
7 |
12,369,877 (GRCm39) |
missense |
probably benign |
0.22 |
R8853:Vmn2r54
|
UTSW |
7 |
12,349,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Vmn2r54
|
UTSW |
7 |
12,363,702 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9146:Vmn2r54
|
UTSW |
7 |
12,366,647 (GRCm39) |
missense |
probably benign |
0.05 |
R9157:Vmn2r54
|
UTSW |
7 |
12,366,055 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9344:Vmn2r54
|
UTSW |
7 |
12,366,283 (GRCm39) |
missense |
probably benign |
|
R9423:Vmn2r54
|
UTSW |
7 |
12,349,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R9534:Vmn2r54
|
UTSW |
7 |
12,366,093 (GRCm39) |
missense |
probably benign |
0.03 |
R9632:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9661:Vmn2r54
|
UTSW |
7 |
12,349,166 (GRCm39) |
missense |
probably benign |
|
R9710:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
U24488:Vmn2r54
|
UTSW |
7 |
12,349,356 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0066:Vmn2r54
|
UTSW |
7 |
12,349,297 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Vmn2r54
|
UTSW |
7 |
12,366,035 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTTGTAAGGTAAAGAGCATGG -3'
(R):5'- GAACAGTCCCTGGACAGTCAAC -3'
Sequencing Primer
(F):5'- GGTAAAGAGCATGGTCAGTTATAAC -3'
(R):5'- GTCCCTGGACAGTCAACAATATTTC -3'
|
Posted On |
2014-08-25 |