Incidental Mutation 'R0257:Vmn2r104'
ID |
34809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r104
|
Ensembl Gene |
ENSMUSG00000090315 |
Gene Name |
vomeronasal 2, receptor 104 |
Synonyms |
V2r7 |
MMRRC Submission |
038488-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R0257 (G1)
|
Quality Score |
183 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
20249687-20268467 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20249889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 794
(T794I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
AlphaFold |
E9Q2J5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168050
AA Change: T794I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129895 Gene: ENSMUSG00000090315 AA Change: T794I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
85 |
457 |
4e-38 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
2.1e-20 |
PFAM |
Pfam:7tm_3
|
598 |
833 |
1.7e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
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 |
Vmn2r52 |
T |
A |
7: 9,904,982 (GRCm39) |
R286* |
probably null |
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 Vmn2r104 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Vmn2r104
|
APN |
17 |
20,258,501 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01098:Vmn2r104
|
APN |
17 |
20,268,358 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01333:Vmn2r104
|
APN |
17 |
20,263,055 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01527:Vmn2r104
|
APN |
17 |
20,263,158 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01773:Vmn2r104
|
APN |
17 |
20,260,930 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01939:Vmn2r104
|
APN |
17 |
20,250,187 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02121:Vmn2r104
|
APN |
17 |
20,262,056 (GRCm39) |
nonsense |
probably null |
|
IGL02305:Vmn2r104
|
APN |
17 |
20,263,118 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02374:Vmn2r104
|
APN |
17 |
20,263,048 (GRCm39) |
missense |
probably benign |
0.34 |
IGL03260:Vmn2r104
|
APN |
17 |
20,263,083 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03366:Vmn2r104
|
APN |
17 |
20,249,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Vmn2r104
|
UTSW |
17 |
20,262,075 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0125:Vmn2r104
|
UTSW |
17 |
20,250,069 (GRCm39) |
missense |
probably damaging |
0.98 |
R0381:Vmn2r104
|
UTSW |
17 |
20,268,264 (GRCm39) |
nonsense |
probably null |
|
R0709:Vmn2r104
|
UTSW |
17 |
20,263,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R0786:Vmn2r104
|
UTSW |
17 |
20,262,987 (GRCm39) |
missense |
probably benign |
|
R1575:Vmn2r104
|
UTSW |
17 |
20,262,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Vmn2r104
|
UTSW |
17 |
20,262,497 (GRCm39) |
missense |
probably damaging |
0.97 |
R1932:Vmn2r104
|
UTSW |
17 |
20,261,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R1956:Vmn2r104
|
UTSW |
17 |
20,262,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R2203:Vmn2r104
|
UTSW |
17 |
20,250,083 (GRCm39) |
missense |
probably benign |
0.05 |
R2205:Vmn2r104
|
UTSW |
17 |
20,250,083 (GRCm39) |
missense |
probably benign |
0.05 |
R2859:Vmn2r104
|
UTSW |
17 |
20,268,455 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3701:Vmn2r104
|
UTSW |
17 |
20,249,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R3834:Vmn2r104
|
UTSW |
17 |
20,250,183 (GRCm39) |
missense |
probably benign |
0.02 |
R4151:Vmn2r104
|
UTSW |
17 |
20,250,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4470:Vmn2r104
|
UTSW |
17 |
20,262,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4625:Vmn2r104
|
UTSW |
17 |
20,268,443 (GRCm39) |
missense |
probably benign |
0.00 |
R4754:Vmn2r104
|
UTSW |
17 |
20,261,030 (GRCm39) |
nonsense |
probably null |
|
R4911:Vmn2r104
|
UTSW |
17 |
20,250,288 (GRCm39) |
missense |
probably benign |
0.00 |
R5270:Vmn2r104
|
UTSW |
17 |
20,258,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Vmn2r104
|
UTSW |
17 |
20,262,146 (GRCm39) |
missense |
probably benign |
0.07 |
R5311:Vmn2r104
|
UTSW |
17 |
20,250,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R5370:Vmn2r104
|
UTSW |
17 |
20,250,450 (GRCm39) |
missense |
probably damaging |
0.97 |
R5461:Vmn2r104
|
UTSW |
17 |
20,250,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R5683:Vmn2r104
|
UTSW |
17 |
20,260,981 (GRCm39) |
nonsense |
probably null |
|
R5795:Vmn2r104
|
UTSW |
17 |
20,250,372 (GRCm39) |
missense |
probably benign |
0.02 |
R5795:Vmn2r104
|
UTSW |
17 |
20,250,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5970:Vmn2r104
|
UTSW |
17 |
20,249,733 (GRCm39) |
missense |
probably benign |
0.01 |
R5983:Vmn2r104
|
UTSW |
17 |
20,261,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R5992:Vmn2r104
|
UTSW |
17 |
20,249,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R6066:Vmn2r104
|
UTSW |
17 |
20,258,573 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6156:Vmn2r104
|
UTSW |
17 |
20,261,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R6182:Vmn2r104
|
UTSW |
17 |
20,250,507 (GRCm39) |
missense |
probably benign |
0.16 |
R6245:Vmn2r104
|
UTSW |
17 |
20,261,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6333:Vmn2r104
|
UTSW |
17 |
20,249,848 (GRCm39) |
missense |
probably benign |
0.30 |
R6573:Vmn2r104
|
UTSW |
17 |
20,262,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7101:Vmn2r104
|
UTSW |
17 |
20,250,358 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7123:Vmn2r104
|
UTSW |
17 |
20,261,088 (GRCm39) |
missense |
probably benign |
0.12 |
R7485:Vmn2r104
|
UTSW |
17 |
20,249,737 (GRCm39) |
missense |
probably benign |
0.01 |
R7514:Vmn2r104
|
UTSW |
17 |
20,249,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R7634:Vmn2r104
|
UTSW |
17 |
20,261,971 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7958:Vmn2r104
|
UTSW |
17 |
20,262,988 (GRCm39) |
missense |
probably benign |
|
R8031:Vmn2r104
|
UTSW |
17 |
20,263,048 (GRCm39) |
missense |
probably benign |
0.34 |
R8094:Vmn2r104
|
UTSW |
17 |
20,250,483 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8191:Vmn2r104
|
UTSW |
17 |
20,250,465 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8308:Vmn2r104
|
UTSW |
17 |
20,261,040 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8691:Vmn2r104
|
UTSW |
17 |
20,262,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R8795:Vmn2r104
|
UTSW |
17 |
20,262,988 (GRCm39) |
missense |
probably benign |
|
R8900:Vmn2r104
|
UTSW |
17 |
20,261,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R8913:Vmn2r104
|
UTSW |
17 |
20,249,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R9180:Vmn2r104
|
UTSW |
17 |
20,263,087 (GRCm39) |
missense |
probably benign |
0.00 |
R9199:Vmn2r104
|
UTSW |
17 |
20,262,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R9282:Vmn2r104
|
UTSW |
17 |
20,261,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Vmn2r104
|
UTSW |
17 |
20,268,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9305:Vmn2r104
|
UTSW |
17 |
20,268,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9322:Vmn2r104
|
UTSW |
17 |
20,263,087 (GRCm39) |
missense |
probably benign |
0.00 |
R9325:Vmn2r104
|
UTSW |
17 |
20,268,433 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9414:Vmn2r104
|
UTSW |
17 |
20,250,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R9785:Vmn2r104
|
UTSW |
17 |
20,268,409 (GRCm39) |
missense |
probably benign |
|
RF007:Vmn2r104
|
UTSW |
17 |
20,268,302 (GRCm39) |
missense |
probably benign |
0.36 |
Z1177:Vmn2r104
|
UTSW |
17 |
20,250,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGGAATAGAAGCATCAGGTCTTCA -3'
(R):5'- GGATGGCAACTTCTCCACCATTCA -3'
Sequencing Primer
(F):5'- GCATCAGGTCTTCAACTCAGAG -3'
(R):5'- GATGGATACATCATCCTTTTGTGC -3'
|
Posted On |
2013-05-09 |