Incidental Mutation 'R6333:Vmn2r104'
ID |
513259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r104
|
Ensembl Gene |
ENSMUSG00000090315 |
Gene Name |
vomeronasal 2, receptor 104 |
Synonyms |
V2r7 |
MMRRC Submission |
044487-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R6333 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
20249687-20268467 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 20249848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 808
(V808I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
AlphaFold |
E9Q2J5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168050
AA Change: V808I
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000129895 Gene: ENSMUSG00000090315 AA Change: V808I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.9%
- 20x: 93.2%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
T |
C |
9: 15,203,372 (GRCm39) |
K111R |
probably benign |
Het |
Abhd18 |
A |
G |
3: 40,888,218 (GRCm39) |
Y354C |
probably benign |
Het |
Acap1 |
T |
C |
11: 69,774,427 (GRCm39) |
I424V |
possibly damaging |
Het |
AI182371 |
A |
T |
2: 34,975,281 (GRCm39) |
I306K |
probably damaging |
Het |
Asb4 |
G |
A |
6: 5,423,597 (GRCm39) |
R248H |
probably damaging |
Het |
Brd7 |
T |
C |
8: 89,071,819 (GRCm39) |
T349A |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,428,944 (GRCm39) |
|
probably null |
Het |
Cep85l |
G |
A |
10: 53,225,197 (GRCm39) |
Q131* |
probably null |
Het |
Chmp2b |
T |
A |
16: 65,337,136 (GRCm39) |
M178L |
possibly damaging |
Het |
Chrnb3 |
A |
G |
8: 27,883,355 (GRCm39) |
N84D |
probably damaging |
Het |
Clec4b2 |
A |
T |
6: 123,177,637 (GRCm39) |
|
probably null |
Het |
Defa34 |
T |
C |
8: 22,155,862 (GRCm39) |
V17A |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,653,856 (GRCm39) |
L947Q |
probably damaging |
Het |
Dynlt2a1 |
G |
A |
17: 15,261,717 (GRCm39) |
|
probably benign |
Het |
Ell |
A |
G |
8: 71,044,188 (GRCm39) |
Y578C |
probably damaging |
Het |
Esp36 |
T |
A |
17: 38,728,135 (GRCm39) |
M49L |
probably benign |
Het |
Fbxw19 |
A |
T |
9: 109,323,751 (GRCm39) |
W75R |
probably benign |
Het |
Fcgr4 |
A |
G |
1: 170,856,838 (GRCm39) |
Y235C |
probably damaging |
Het |
Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
Gm13030 |
A |
T |
4: 138,598,708 (GRCm39) |
|
probably null |
Het |
Hdac9 |
T |
C |
12: 34,102,323 (GRCm39) |
M1058V |
probably damaging |
Het |
Hsd3b6 |
A |
G |
3: 98,713,540 (GRCm39) |
F253S |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,289,266 (GRCm39) |
Y3794H |
probably damaging |
Het |
Mark4 |
G |
A |
7: 19,177,208 (GRCm39) |
T207M |
probably damaging |
Het |
Mme |
A |
G |
3: 63,249,382 (GRCm39) |
T304A |
probably benign |
Het |
Neb |
A |
G |
2: 52,148,275 (GRCm39) |
L2657P |
probably damaging |
Het |
Nufip1 |
A |
C |
14: 76,349,425 (GRCm39) |
K152N |
probably damaging |
Het |
Pcdh1 |
A |
G |
18: 38,331,860 (GRCm39) |
V381A |
probably benign |
Het |
Pdss1 |
A |
G |
2: 22,791,778 (GRCm39) |
T30A |
probably damaging |
Het |
Plrg1 |
A |
G |
3: 82,964,102 (GRCm39) |
T12A |
probably damaging |
Het |
Ppig |
C |
T |
2: 69,579,902 (GRCm39) |
H479Y |
unknown |
Het |
Prokr2 |
A |
G |
2: 132,215,898 (GRCm39) |
F188L |
probably damaging |
Het |
Prss39 |
A |
G |
1: 34,539,150 (GRCm39) |
N130S |
probably benign |
Het |
Ptar1 |
G |
A |
19: 23,671,686 (GRCm39) |
D30N |
possibly damaging |
Het |
Rai14 |
G |
T |
15: 10,575,022 (GRCm39) |
Y645* |
probably null |
Het |
Rnasek |
T |
C |
11: 70,129,252 (GRCm39) |
Y67C |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,354,192 (GRCm39) |
V4023A |
probably damaging |
Het |
Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
Sctr |
T |
C |
1: 119,984,182 (GRCm39) |
F357L |
probably damaging |
Het |
Sec14l5 |
G |
A |
16: 4,984,908 (GRCm39) |
V85I |
probably benign |
Het |
Shld2 |
G |
A |
14: 33,989,565 (GRCm39) |
T447M |
probably damaging |
Het |
Sirpd |
T |
C |
3: 15,385,671 (GRCm39) |
Y77C |
probably damaging |
Het |
Spag8 |
T |
C |
4: 43,653,186 (GRCm39) |
|
probably benign |
Het |
Tbc1d2 |
T |
C |
4: 46,620,736 (GRCm39) |
D358G |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,423,331 (GRCm39) |
T672A |
probably damaging |
Het |
Tent2 |
G |
A |
13: 93,322,821 (GRCm39) |
Q43* |
probably null |
Het |
Trmt1l |
T |
A |
1: 151,329,685 (GRCm39) |
S543T |
probably benign |
Het |
Ube4b |
A |
G |
4: 149,432,494 (GRCm39) |
F810S |
probably damaging |
Het |
Zfp3 |
T |
A |
11: 70,662,266 (GRCm39) |
I75N |
probably benign |
Het |
Zwint |
A |
G |
10: 72,490,784 (GRCm39) |
|
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 |
R0257:Vmn2r104
|
UTSW |
17 |
20,249,889 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
20,250,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5795:Vmn2r104
|
UTSW |
17 |
20,250,372 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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'- AGCATCAGGTCTTCAACTCAGAG -3'
(R):5'- CTTCCATTCAGTCCTGGGATAC -3'
Sequencing Primer
(F):5'- TCAGGTCTTCAACTCAGAGATATTG -3'
(R):5'- GGATACCTCTGTTTCTTGGCC -3'
|
Posted On |
2018-04-27 |