Incidental Mutation 'R0257:Vmn2r52'
ID |
34782 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r52
|
Ensembl Gene |
ENSMUSG00000091930 |
Gene Name |
vomeronasal 2, receptor 52 |
Synonyms |
EG384534 |
MMRRC Submission |
038488-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R0257 (G1)
|
Quality Score |
141 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
9892579-9910213 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 9904982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 286
(R286*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164918]
|
AlphaFold |
L7N2B2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000164918
AA Change: R286*
|
SMART Domains |
Protein: ENSMUSP00000129352 Gene: ENSMUSG00000091930 AA Change: R286*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
469 |
8.1e-29 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
1.5e-19 |
PFAM |
Pfam:7tm_3
|
596 |
833 |
1.1e-55 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.2%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
A |
11: 84,401,107 (GRCm39) |
E171D |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adgre5 |
T |
A |
8: 84,458,624 (GRCm39) |
H134L |
possibly damaging |
Het |
Ahsg |
A |
T |
16: 22,717,790 (GRCm39) |
M256L |
probably benign |
Het |
Alk |
A |
T |
17: 72,910,490 (GRCm39) |
L72Q |
probably damaging |
Het |
Ano2 |
C |
A |
6: 125,857,676 (GRCm39) |
A505E |
probably benign |
Het |
Bcas3 |
A |
G |
11: 85,712,865 (GRCm39) |
K908E |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
Car2 |
C |
G |
3: 14,965,037 (GRCm39) |
H224D |
probably benign |
Het |
Cfh |
T |
C |
1: 140,071,773 (GRCm39) |
D287G |
probably benign |
Het |
Disp3 |
G |
T |
4: 148,335,211 (GRCm39) |
N944K |
possibly damaging |
Het |
Dlg1 |
A |
G |
16: 31,661,671 (GRCm39) |
|
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,708,123 (GRCm39) |
E1281G |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,088,870 (GRCm39) |
|
probably benign |
Het |
Dtx3 |
T |
C |
10: 127,028,761 (GRCm39) |
D159G |
probably benign |
Het |
Ets2 |
T |
A |
16: 95,513,245 (GRCm39) |
C140* |
probably null |
Het |
Fbf1 |
T |
C |
11: 116,045,917 (GRCm39) |
I226V |
probably benign |
Het |
Fgd6 |
T |
A |
10: 93,879,777 (GRCm39) |
H210Q |
probably benign |
Het |
Fktn |
A |
G |
4: 53,734,898 (GRCm39) |
T179A |
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,671,904 (GRCm39) |
M398T |
probably damaging |
Het |
Grk5 |
G |
T |
19: 61,065,068 (GRCm39) |
|
probably benign |
Het |
Gse1 |
A |
G |
8: 121,299,073 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,259,176 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,861,052 (GRCm39) |
|
probably null |
Het |
Lama4 |
T |
C |
10: 38,970,880 (GRCm39) |
|
probably benign |
Het |
Luzp2 |
A |
G |
7: 54,899,194 (GRCm39) |
T271A |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,693,534 (GRCm39) |
V1053D |
probably damaging |
Het |
Mrm1 |
A |
C |
11: 84,705,649 (GRCm39) |
|
probably benign |
Het |
Msh5 |
G |
C |
17: 35,251,840 (GRCm39) |
R407G |
probably damaging |
Het |
Myo1c |
A |
T |
11: 75,556,342 (GRCm39) |
|
probably null |
Het |
Nek5 |
T |
C |
8: 22,613,688 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,540,728 (GRCm39) |
I894V |
possibly damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Pde4a |
C |
T |
9: 21,103,717 (GRCm39) |
P175L |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,150,930 (GRCm39) |
A628E |
possibly damaging |
Het |
Piwil2 |
C |
T |
14: 70,660,080 (GRCm39) |
S139N |
probably benign |
Het |
Prob1 |
T |
C |
18: 35,786,092 (GRCm39) |
K721E |
possibly damaging |
Het |
Rps6ka2 |
C |
A |
17: 7,495,382 (GRCm39) |
S57Y |
probably damaging |
Het |
Rxfp1 |
C |
T |
3: 79,589,842 (GRCm39) |
V100M |
possibly damaging |
Het |
Serpinb9e |
A |
T |
13: 33,441,664 (GRCm39) |
M199L |
probably benign |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc4a8 |
G |
A |
15: 100,682,761 (GRCm39) |
|
probably benign |
Het |
Sned1 |
A |
T |
1: 93,192,819 (GRCm39) |
S369C |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,890,186 (GRCm39) |
F539L |
probably benign |
Het |
Stam2 |
C |
T |
2: 52,584,794 (GRCm39) |
G500D |
possibly damaging |
Het |
Stx16 |
G |
A |
2: 173,938,754 (GRCm39) |
V307M |
probably benign |
Het |
Svep1 |
G |
A |
4: 58,179,610 (GRCm39) |
S211L |
possibly damaging |
Het |
Tcf12 |
C |
T |
9: 71,765,904 (GRCm39) |
S512N |
probably benign |
Het |
Tiam2 |
T |
C |
17: 3,501,088 (GRCm39) |
V909A |
possibly damaging |
Het |
Tmem64 |
C |
T |
4: 15,266,343 (GRCm39) |
A131V |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,778,556 (GRCm39) |
N1176K |
possibly damaging |
Het |
Trrap |
C |
T |
5: 144,741,045 (GRCm39) |
S1264L |
probably benign |
Het |
Ttn |
T |
A |
2: 76,640,775 (GRCm39) |
T13658S |
possibly damaging |
Het |
Vmn2r104 |
G |
A |
17: 20,249,889 (GRCm39) |
T794I |
probably damaging |
Het |
Vps53 |
A |
T |
11: 76,068,211 (GRCm39) |
|
probably benign |
Het |
Wdr18 |
A |
G |
10: 79,796,953 (GRCm39) |
|
probably benign |
Het |
Wdr31 |
A |
G |
4: 62,378,755 (GRCm39) |
|
probably null |
Het |
Zfp458 |
T |
A |
13: 67,407,706 (GRCm39) |
K47* |
probably null |
Het |
Zfp983 |
A |
G |
17: 21,880,356 (GRCm39) |
T95A |
probably benign |
Het |
|
Other mutations in Vmn2r52 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Vmn2r52
|
APN |
7 |
9,903,023 (GRCm39) |
missense |
probably benign |
0.30 |
IGL00328:Vmn2r52
|
APN |
7 |
9,905,344 (GRCm39) |
missense |
probably benign |
0.12 |
IGL00980:Vmn2r52
|
APN |
7 |
9,905,017 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01468:Vmn2r52
|
APN |
7 |
9,892,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01660:Vmn2r52
|
APN |
7 |
9,893,107 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02215:Vmn2r52
|
APN |
7 |
9,905,029 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03030:Vmn2r52
|
APN |
7 |
9,892,799 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03212:Vmn2r52
|
APN |
7 |
9,893,474 (GRCm39) |
missense |
possibly damaging |
0.47 |
FR4589:Vmn2r52
|
UTSW |
7 |
9,892,947 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4283001:Vmn2r52
|
UTSW |
7 |
9,904,756 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0184:Vmn2r52
|
UTSW |
7 |
9,893,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R0190:Vmn2r52
|
UTSW |
7 |
9,905,315 (GRCm39) |
missense |
probably benign |
0.00 |
R0240:Vmn2r52
|
UTSW |
7 |
9,893,327 (GRCm39) |
missense |
probably damaging |
0.99 |
R0240:Vmn2r52
|
UTSW |
7 |
9,893,327 (GRCm39) |
missense |
probably damaging |
0.99 |
R0310:Vmn2r52
|
UTSW |
7 |
9,893,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R1831:Vmn2r52
|
UTSW |
7 |
9,893,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R1862:Vmn2r52
|
UTSW |
7 |
9,907,333 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2484:Vmn2r52
|
UTSW |
7 |
9,903,058 (GRCm39) |
missense |
probably damaging |
0.96 |
R2510:Vmn2r52
|
UTSW |
7 |
9,904,795 (GRCm39) |
missense |
probably benign |
|
R3625:Vmn2r52
|
UTSW |
7 |
9,893,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R3803:Vmn2r52
|
UTSW |
7 |
9,907,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R4013:Vmn2r52
|
UTSW |
7 |
9,904,603 (GRCm39) |
missense |
probably benign |
0.00 |
R4283:Vmn2r52
|
UTSW |
7 |
9,904,565 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4324:Vmn2r52
|
UTSW |
7 |
9,904,940 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4578:Vmn2r52
|
UTSW |
7 |
9,904,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R4806:Vmn2r52
|
UTSW |
7 |
9,893,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5083:Vmn2r52
|
UTSW |
7 |
9,893,392 (GRCm39) |
nonsense |
probably null |
|
R5249:Vmn2r52
|
UTSW |
7 |
9,910,197 (GRCm39) |
missense |
probably benign |
|
R5306:Vmn2r52
|
UTSW |
7 |
9,904,672 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5332:Vmn2r52
|
UTSW |
7 |
9,903,052 (GRCm39) |
missense |
probably benign |
0.17 |
R5617:Vmn2r52
|
UTSW |
7 |
9,904,861 (GRCm39) |
missense |
probably damaging |
0.99 |
R5643:Vmn2r52
|
UTSW |
7 |
9,905,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R5749:Vmn2r52
|
UTSW |
7 |
9,892,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R5763:Vmn2r52
|
UTSW |
7 |
9,905,231 (GRCm39) |
missense |
probably benign |
0.01 |
R6103:Vmn2r52
|
UTSW |
7 |
9,905,327 (GRCm39) |
missense |
probably benign |
0.36 |
R6148:Vmn2r52
|
UTSW |
7 |
9,905,090 (GRCm39) |
missense |
probably benign |
0.00 |
R6356:Vmn2r52
|
UTSW |
7 |
9,902,926 (GRCm39) |
missense |
probably benign |
0.01 |
R6412:Vmn2r52
|
UTSW |
7 |
9,904,936 (GRCm39) |
missense |
probably benign |
|
R6657:Vmn2r52
|
UTSW |
7 |
9,893,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R6997:Vmn2r52
|
UTSW |
7 |
9,902,998 (GRCm39) |
missense |
probably benign |
0.06 |
R7395:Vmn2r52
|
UTSW |
7 |
9,904,744 (GRCm39) |
missense |
probably benign |
0.00 |
R7621:Vmn2r52
|
UTSW |
7 |
9,907,274 (GRCm39) |
missense |
probably benign |
0.00 |
R7691:Vmn2r52
|
UTSW |
7 |
9,893,109 (GRCm39) |
missense |
probably damaging |
0.97 |
R7852:Vmn2r52
|
UTSW |
7 |
9,892,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7908:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
R7909:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
R7912:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
R7913:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
R7938:Vmn2r52
|
UTSW |
7 |
9,893,300 (GRCm39) |
missense |
probably benign |
0.12 |
R8884:Vmn2r52
|
UTSW |
7 |
9,892,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R9003:Vmn2r52
|
UTSW |
7 |
9,905,181 (GRCm39) |
missense |
probably benign |
0.07 |
R9140:Vmn2r52
|
UTSW |
7 |
9,892,643 (GRCm39) |
missense |
probably damaging |
0.99 |
R9141:Vmn2r52
|
UTSW |
7 |
9,905,331 (GRCm39) |
nonsense |
probably null |
|
R9500:Vmn2r52
|
UTSW |
7 |
9,905,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9562:Vmn2r52
|
UTSW |
7 |
9,893,476 (GRCm39) |
missense |
probably benign |
0.22 |
R9564:Vmn2r52
|
UTSW |
7 |
9,905,182 (GRCm39) |
missense |
probably benign |
0.15 |
R9565:Vmn2r52
|
UTSW |
7 |
9,893,476 (GRCm39) |
missense |
probably benign |
0.22 |
R9597:Vmn2r52
|
UTSW |
7 |
9,904,719 (GRCm39) |
nonsense |
probably null |
|
R9743:Vmn2r52
|
UTSW |
7 |
9,904,606 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Vmn2r52
|
UTSW |
7 |
9,905,127 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Vmn2r52
|
UTSW |
7 |
9,903,117 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGTCCCATTAGCCAATCCAATGAAG -3'
(R):5'- CCCTATGTCTATCAGATGGCCCCAAAG -3'
Sequencing Primer
(F):5'- CAGTTACATGCTGAGTCTTCACAG -3'
(R):5'- CACATCTCTAGCATTGGCAATGG -3'
|
Posted On |
2013-05-09 |