Incidental Mutation 'R0597:Vmn2r23'
ID |
55117 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r23
|
Ensembl Gene |
ENSMUSG00000091620 |
Gene Name |
vomeronasal 2, receptor 23 |
Synonyms |
EG435916 |
MMRRC Submission |
038786-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R0597 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
123679780-123719198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123706680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 503
(I503M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172391]
|
AlphaFold |
E9PXI5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172391
AA Change: I503M
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000126682 Gene: ENSMUSG00000091620 AA Change: I503M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
79 |
461 |
1.7e-31 |
PFAM |
Pfam:NCD3G
|
513 |
566 |
1.2e-23 |
PFAM |
Pfam:7tm_3
|
596 |
834 |
1.5e-55 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 94.1%
|
Validation Efficiency |
97% (71/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
T |
C |
1: 165,352,631 (GRCm39) |
|
probably null |
Het |
Anxa11 |
T |
C |
14: 25,874,652 (GRCm39) |
I221T |
probably damaging |
Het |
Arhgap33 |
C |
G |
7: 30,225,871 (GRCm39) |
R565P |
probably damaging |
Het |
Bmpr2 |
T |
C |
1: 59,880,584 (GRCm39) |
|
probably benign |
Het |
Btn2a2 |
T |
A |
13: 23,670,580 (GRCm39) |
H51L |
probably benign |
Het |
Casz1 |
T |
C |
4: 149,028,851 (GRCm39) |
S1099P |
probably benign |
Het |
Cnot4 |
A |
G |
6: 35,028,438 (GRCm39) |
S393P |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,112,191 (GRCm39) |
|
probably benign |
Het |
Cobl |
T |
C |
11: 12,204,699 (GRCm39) |
T586A |
probably benign |
Het |
Crocc |
T |
C |
4: 140,747,224 (GRCm39) |
K1528R |
probably benign |
Het |
Crocc |
A |
G |
4: 140,744,382 (GRCm39) |
L1838P |
probably benign |
Het |
Dact2 |
A |
G |
17: 14,417,303 (GRCm39) |
V299A |
probably benign |
Het |
Dapk1 |
C |
A |
13: 60,909,198 (GRCm39) |
N1270K |
probably benign |
Het |
Ddx41 |
T |
C |
13: 55,680,819 (GRCm39) |
Y375C |
probably damaging |
Het |
Dock5 |
T |
A |
14: 68,022,383 (GRCm39) |
|
probably null |
Het |
Dyrk4 |
T |
G |
6: 126,863,612 (GRCm39) |
|
probably null |
Het |
Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
Fam210b |
A |
G |
2: 172,187,773 (GRCm39) |
|
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,819,712 (GRCm39) |
I229T |
probably benign |
Het |
Fbxo39 |
A |
G |
11: 72,207,747 (GRCm39) |
D33G |
probably damaging |
Het |
Fbxw11 |
A |
G |
11: 32,670,496 (GRCm39) |
E120G |
probably damaging |
Het |
Fbxw2 |
A |
T |
2: 34,701,032 (GRCm39) |
L261Q |
probably damaging |
Het |
Gm5800 |
A |
C |
14: 51,953,461 (GRCm39) |
N51K |
probably benign |
Het |
Gm6899 |
A |
G |
11: 26,543,768 (GRCm39) |
|
probably benign |
Het |
Gpx8 |
T |
C |
13: 113,182,035 (GRCm39) |
T133A |
possibly damaging |
Het |
Grin3a |
C |
T |
4: 49,665,351 (GRCm39) |
V1095M |
probably damaging |
Het |
Grip2 |
T |
C |
6: 91,773,178 (GRCm39) |
|
probably benign |
Het |
Hacd4 |
A |
G |
4: 88,355,757 (GRCm39) |
F43L |
probably damaging |
Het |
Hif1a |
T |
G |
12: 73,989,049 (GRCm39) |
S645R |
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,263,982 (GRCm39) |
S839P |
possibly damaging |
Het |
Idi2l |
C |
A |
13: 8,990,802 (GRCm39) |
|
probably benign |
Het |
Il16 |
A |
T |
7: 83,327,183 (GRCm39) |
|
probably benign |
Het |
Il3ra |
T |
A |
14: 14,351,166 (GRCm38) |
|
probably null |
Het |
Il5ra |
A |
G |
6: 106,721,296 (GRCm39) |
M1T |
probably null |
Het |
Klra2 |
G |
A |
6: 131,197,148 (GRCm39) |
R251C |
probably benign |
Het |
Lamc2 |
C |
T |
1: 153,009,367 (GRCm39) |
V813M |
probably benign |
Het |
Lbr |
A |
G |
1: 181,659,778 (GRCm39) |
V139A |
probably benign |
Het |
Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
Map3k6 |
C |
T |
4: 132,972,863 (GRCm39) |
P341S |
possibly damaging |
Het |
Mcts2 |
A |
G |
2: 152,529,609 (GRCm39) |
E140G |
probably benign |
Het |
Med1 |
T |
C |
11: 98,060,264 (GRCm39) |
M222V |
probably benign |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Muc19 |
A |
T |
15: 91,784,696 (GRCm39) |
|
noncoding transcript |
Het |
Nr1h2 |
A |
G |
7: 44,201,684 (GRCm39) |
|
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,706,592 (GRCm39) |
|
probably null |
Het |
Or2w6 |
C |
A |
13: 21,843,316 (GRCm39) |
R59L |
probably damaging |
Het |
Or56a42-ps1 |
A |
G |
7: 104,777,425 (GRCm39) |
V73A |
possibly damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,123 (GRCm39) |
F250I |
probably damaging |
Het |
P4hb |
G |
A |
11: 120,459,070 (GRCm39) |
T141I |
possibly damaging |
Het |
Polr3a |
A |
G |
14: 24,534,202 (GRCm39) |
V101A |
probably benign |
Het |
Pou4f2 |
A |
G |
8: 79,161,869 (GRCm39) |
S245P |
probably benign |
Het |
Pramel26 |
G |
T |
4: 143,539,222 (GRCm39) |
N90K |
probably damaging |
Het |
Rnpep |
A |
G |
1: 135,200,157 (GRCm39) |
V266A |
probably damaging |
Het |
Scly |
G |
A |
1: 91,237,555 (GRCm39) |
G206R |
probably damaging |
Het |
Sec14l3 |
A |
T |
11: 4,024,814 (GRCm39) |
K254N |
probably damaging |
Het |
Sgpp1 |
A |
T |
12: 75,781,874 (GRCm39) |
I155N |
probably damaging |
Het |
Slc22a14 |
A |
G |
9: 119,001,190 (GRCm39) |
L468P |
probably damaging |
Het |
Slc22a27 |
A |
G |
19: 7,843,249 (GRCm39) |
F377L |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,253,719 (GRCm39) |
I625V |
probably benign |
Het |
Slc47a2 |
A |
T |
11: 61,200,802 (GRCm39) |
I373N |
probably damaging |
Het |
Slfn10-ps |
A |
T |
11: 82,926,479 (GRCm39) |
|
noncoding transcript |
Het |
Smarcd1 |
T |
A |
15: 99,608,975 (GRCm39) |
I383N |
probably damaging |
Het |
Sort1 |
A |
G |
3: 108,246,226 (GRCm39) |
D401G |
probably damaging |
Het |
Sprr2a3 |
G |
T |
3: 92,195,897 (GRCm39) |
M1I |
probably null |
Het |
Sycp2 |
A |
C |
2: 177,998,373 (GRCm39) |
V1049G |
possibly damaging |
Het |
Tecrl |
T |
A |
5: 83,502,775 (GRCm39) |
K10* |
probably null |
Het |
Tnpo3 |
A |
T |
6: 29,578,564 (GRCm39) |
C303* |
probably null |
Het |
Zbtb8os |
T |
A |
4: 129,240,670 (GRCm39) |
I164N |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,399 (GRCm39) |
N1882D |
probably benign |
Het |
Zfp91 |
T |
C |
19: 12,747,459 (GRCm39) |
I555V |
possibly damaging |
Het |
|
Other mutations in Vmn2r23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Vmn2r23
|
APN |
6 |
123,706,684 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01012:Vmn2r23
|
APN |
6 |
123,706,555 (GRCm39) |
missense |
probably benign |
|
IGL01073:Vmn2r23
|
APN |
6 |
123,689,759 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01547:Vmn2r23
|
APN |
6 |
123,681,383 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01571:Vmn2r23
|
APN |
6 |
123,681,366 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01950:Vmn2r23
|
APN |
6 |
123,718,845 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02028:Vmn2r23
|
APN |
6 |
123,718,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02248:Vmn2r23
|
APN |
6 |
123,718,703 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02318:Vmn2r23
|
APN |
6 |
123,718,795 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02649:Vmn2r23
|
APN |
6 |
123,681,437 (GRCm39) |
missense |
probably benign |
|
IGL02831:Vmn2r23
|
APN |
6 |
123,681,344 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02832:Vmn2r23
|
APN |
6 |
123,681,355 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02865:Vmn2r23
|
APN |
6 |
123,718,578 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02964:Vmn2r23
|
APN |
6 |
123,718,741 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03347:Vmn2r23
|
APN |
6 |
123,681,333 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03396:Vmn2r23
|
APN |
6 |
123,706,585 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4472001:Vmn2r23
|
UTSW |
6 |
123,689,936 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0677:Vmn2r23
|
UTSW |
6 |
123,690,410 (GRCm39) |
missense |
probably benign |
0.00 |
R0904:Vmn2r23
|
UTSW |
6 |
123,719,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R1330:Vmn2r23
|
UTSW |
6 |
123,718,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R1424:Vmn2r23
|
UTSW |
6 |
123,690,229 (GRCm39) |
nonsense |
probably null |
|
R1629:Vmn2r23
|
UTSW |
6 |
123,690,386 (GRCm39) |
missense |
probably benign |
0.05 |
R1842:Vmn2r23
|
UTSW |
6 |
123,706,649 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1867:Vmn2r23
|
UTSW |
6 |
123,679,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R1919:Vmn2r23
|
UTSW |
6 |
123,689,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2087:Vmn2r23
|
UTSW |
6 |
123,718,458 (GRCm39) |
missense |
probably benign |
0.00 |
R2338:Vmn2r23
|
UTSW |
6 |
123,681,384 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2568:Vmn2r23
|
UTSW |
6 |
123,719,147 (GRCm39) |
nonsense |
probably null |
|
R2867:Vmn2r23
|
UTSW |
6 |
123,690,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2867:Vmn2r23
|
UTSW |
6 |
123,690,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3500:Vmn2r23
|
UTSW |
6 |
123,690,129 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3789:Vmn2r23
|
UTSW |
6 |
123,718,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R4164:Vmn2r23
|
UTSW |
6 |
123,706,697 (GRCm39) |
missense |
probably benign |
|
R4506:Vmn2r23
|
UTSW |
6 |
123,679,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Vmn2r23
|
UTSW |
6 |
123,718,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Vmn2r23
|
UTSW |
6 |
123,718,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Vmn2r23
|
UTSW |
6 |
123,690,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R4983:Vmn2r23
|
UTSW |
6 |
123,710,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Vmn2r23
|
UTSW |
6 |
123,689,936 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5392:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
R5528:Vmn2r23
|
UTSW |
6 |
123,689,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R5529:Vmn2r23
|
UTSW |
6 |
123,690,410 (GRCm39) |
missense |
probably benign |
0.00 |
R5664:Vmn2r23
|
UTSW |
6 |
123,690,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R5749:Vmn2r23
|
UTSW |
6 |
123,710,232 (GRCm39) |
missense |
probably benign |
|
R5761:Vmn2r23
|
UTSW |
6 |
123,689,718 (GRCm39) |
missense |
probably benign |
0.39 |
R5762:Vmn2r23
|
UTSW |
6 |
123,710,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R5868:Vmn2r23
|
UTSW |
6 |
123,689,901 (GRCm39) |
missense |
probably benign |
0.12 |
R5935:Vmn2r23
|
UTSW |
6 |
123,718,854 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6242:Vmn2r23
|
UTSW |
6 |
123,681,359 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6416:Vmn2r23
|
UTSW |
6 |
123,689,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R6524:Vmn2r23
|
UTSW |
6 |
123,690,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R6576:Vmn2r23
|
UTSW |
6 |
123,710,232 (GRCm39) |
missense |
probably benign |
|
R6925:Vmn2r23
|
UTSW |
6 |
123,681,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R7148:Vmn2r23
|
UTSW |
6 |
123,689,981 (GRCm39) |
missense |
probably benign |
|
R7215:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
R7252:Vmn2r23
|
UTSW |
6 |
123,718,540 (GRCm39) |
missense |
probably damaging |
0.97 |
R7403:Vmn2r23
|
UTSW |
6 |
123,681,538 (GRCm39) |
missense |
probably benign |
0.01 |
R8015:Vmn2r23
|
UTSW |
6 |
123,681,500 (GRCm39) |
missense |
probably benign |
0.00 |
R8143:Vmn2r23
|
UTSW |
6 |
123,718,312 (GRCm39) |
missense |
probably damaging |
0.99 |
R8474:Vmn2r23
|
UTSW |
6 |
123,681,599 (GRCm39) |
missense |
probably benign |
0.36 |
R8520:Vmn2r23
|
UTSW |
6 |
123,718,615 (GRCm39) |
missense |
probably damaging |
0.99 |
R8679:Vmn2r23
|
UTSW |
6 |
123,690,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R8713:Vmn2r23
|
UTSW |
6 |
123,679,991 (GRCm39) |
missense |
|
|
R8966:Vmn2r23
|
UTSW |
6 |
123,719,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9124:Vmn2r23
|
UTSW |
6 |
123,719,038 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9163:Vmn2r23
|
UTSW |
6 |
123,718,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R9189:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
R9451:Vmn2r23
|
UTSW |
6 |
123,710,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R9495:Vmn2r23
|
UTSW |
6 |
123,689,672 (GRCm39) |
missense |
probably benign |
0.30 |
R9514:Vmn2r23
|
UTSW |
6 |
123,689,672 (GRCm39) |
missense |
probably benign |
0.30 |
RF018:Vmn2r23
|
UTSW |
6 |
123,690,075 (GRCm39) |
missense |
probably benign |
0.00 |
T0975:Vmn2r23
|
UTSW |
6 |
123,690,120 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Vmn2r23
|
UTSW |
6 |
123,719,067 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Vmn2r23
|
UTSW |
6 |
123,706,684 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTGACCAGACTCCTCATTTCATTATGG -3'
(R):5'- TGCAGGCAGAAAATTCTAGTATTTGGCA -3'
Sequencing Primer
(F):5'- caaaggaagtggtagtaaacagag -3'
(R):5'- CTAGTATTTGGCATTGGAAAGGACAC -3'
|
Posted On |
2013-07-11 |