Incidental Mutation 'R9451:Vmn2r23'
ID |
714252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r23
|
Ensembl Gene |
ENSMUSG00000091620 |
Gene Name |
vomeronasal 2, receptor 23 |
Synonyms |
EG435916 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R9451 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
123679780-123719198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123710352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 552
(T552A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172391]
|
AlphaFold |
E9PXI5 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158091
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172391
AA Change: T552A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126682 Gene: ENSMUSG00000091620 AA Change: T552A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh8a1 |
T |
A |
10: 21,265,032 (GRCm39) |
S220T |
probably benign |
Het |
Ankrd66 |
A |
G |
17: 43,845,811 (GRCm39) |
V192A |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,965,774 (GRCm39) |
Y594C |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,103,494 (GRCm39) |
Y1009H |
probably benign |
Het |
Bptf |
A |
C |
11: 106,935,411 (GRCm39) |
M142R |
probably damaging |
Het |
Brwd1 |
C |
T |
16: 95,845,703 (GRCm39) |
R740Q |
probably damaging |
Het |
C3 |
A |
G |
17: 57,531,169 (GRCm39) |
M339T |
probably benign |
Het |
Catsperg1 |
A |
G |
7: 28,897,772 (GRCm39) |
|
probably null |
Het |
Cep295nl |
T |
A |
11: 118,224,446 (GRCm39) |
K133* |
probably null |
Het |
Copg2 |
A |
T |
6: 30,793,786 (GRCm39) |
|
probably benign |
Het |
Coro7 |
A |
T |
16: 4,488,402 (GRCm39) |
D89E |
probably damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Ddx54 |
G |
T |
5: 120,765,209 (GRCm39) |
R826L |
probably damaging |
Het |
Dlg4 |
G |
T |
11: 69,922,065 (GRCm39) |
K162N |
probably damaging |
Het |
Dna2 |
T |
A |
10: 62,790,072 (GRCm39) |
L185H |
probably benign |
Het |
Dock9 |
C |
T |
14: 121,787,601 (GRCm39) |
|
probably benign |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Etl4 |
A |
G |
2: 20,813,926 (GRCm39) |
I1322V |
probably benign |
Het |
Exd1 |
T |
C |
2: 119,355,064 (GRCm39) |
K284E |
possibly damaging |
Het |
Flnc |
A |
G |
6: 29,445,462 (GRCm39) |
T786A |
probably damaging |
Het |
Gm29106 |
A |
C |
1: 118,127,644 (GRCm39) |
E445D |
possibly damaging |
Het |
Gm5592 |
T |
C |
7: 40,935,876 (GRCm39) |
L126P |
probably damaging |
Het |
Grep1 |
A |
G |
17: 23,936,187 (GRCm39) |
Y19H |
unknown |
Het |
Gtf3c2 |
T |
G |
5: 31,325,773 (GRCm39) |
T389P |
probably damaging |
Het |
Hhipl1 |
C |
A |
12: 108,294,100 (GRCm39) |
R669S |
probably benign |
Het |
Hivep1 |
A |
G |
13: 42,337,252 (GRCm39) |
T2444A |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,238,380 (GRCm39) |
E289G |
probably damaging |
Het |
Htatip2 |
C |
A |
7: 49,408,987 (GRCm39) |
T9K |
unknown |
Het |
Ifngr1 |
T |
C |
10: 19,483,041 (GRCm39) |
V265A |
possibly damaging |
Het |
Ift140 |
A |
G |
17: 25,252,925 (GRCm39) |
N359D |
probably benign |
Het |
Mat1a |
A |
G |
14: 40,836,803 (GRCm39) |
R178G |
probably damaging |
Het |
Mknk2 |
C |
T |
10: 80,505,496 (GRCm39) |
R154H |
probably benign |
Het |
Myh14 |
C |
T |
7: 44,273,743 (GRCm39) |
|
probably null |
Het |
Myof |
A |
G |
19: 37,966,096 (GRCm39) |
|
probably null |
Het |
Nfe2l1 |
G |
T |
11: 96,718,453 (GRCm39) |
D27E |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
Or4a15 |
A |
T |
2: 89,193,243 (GRCm39) |
C177S |
probably damaging |
Het |
Or4k51 |
T |
C |
2: 111,585,218 (GRCm39) |
V208A |
probably benign |
Het |
Or5p61 |
A |
G |
7: 107,758,468 (GRCm39) |
V204A |
probably benign |
Het |
Or8s5 |
A |
G |
15: 98,238,144 (GRCm39) |
V242A |
possibly damaging |
Het |
Plec |
C |
A |
15: 76,067,987 (GRCm39) |
Q1139H |
unknown |
Het |
Plxna2 |
T |
A |
1: 194,326,692 (GRCm39) |
S209T |
probably benign |
Het |
Plxnd1 |
T |
C |
6: 115,940,277 (GRCm39) |
E1369G |
possibly damaging |
Het |
Psd3 |
T |
C |
8: 68,363,487 (GRCm39) |
I3V |
unknown |
Het |
Pwp1 |
T |
A |
10: 85,714,428 (GRCm39) |
F195L |
probably damaging |
Het |
Rab3ip |
C |
T |
10: 116,775,354 (GRCm39) |
M1I |
probably null |
Het |
Rad54l2 |
T |
C |
9: 106,585,488 (GRCm39) |
K759R |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,300,724 (GRCm39) |
V344L |
probably damaging |
Het |
Robo1 |
G |
A |
16: 72,803,718 (GRCm39) |
R1088Q |
probably benign |
Het |
Rtf2 |
A |
G |
2: 172,282,745 (GRCm39) |
|
probably benign |
Het |
Serhl |
A |
C |
15: 82,987,167 (GRCm39) |
K131N |
possibly damaging |
Het |
Sidt1 |
T |
A |
16: 44,075,392 (GRCm39) |
|
probably null |
Het |
Slc27a1 |
T |
A |
8: 72,032,808 (GRCm39) |
Y248* |
probably null |
Het |
Slitrk3 |
T |
A |
3: 72,958,616 (GRCm39) |
E52V |
possibly damaging |
Het |
Snx2 |
T |
C |
18: 53,343,415 (GRCm39) |
V271A |
probably benign |
Het |
Snx9 |
C |
A |
17: 5,949,768 (GRCm39) |
P156Q |
probably damaging |
Het |
Spag6 |
C |
A |
2: 18,715,369 (GRCm39) |
Y71* |
probably null |
Het |
Speer4a3 |
T |
A |
5: 26,156,569 (GRCm39) |
K137* |
probably null |
Het |
Speg |
A |
G |
1: 75,394,377 (GRCm39) |
D1724G |
probably damaging |
Het |
Syt7 |
A |
G |
19: 10,421,532 (GRCm39) |
N572S |
probably damaging |
Het |
Thoc2l |
C |
A |
5: 104,668,644 (GRCm39) |
S1055R |
probably benign |
Het |
Ticam2 |
A |
G |
18: 46,693,766 (GRCm39) |
I107T |
probably damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tmem268 |
G |
A |
4: 63,488,256 (GRCm39) |
V135M |
probably benign |
Het |
Toporsl |
A |
G |
4: 52,611,663 (GRCm39) |
T519A |
possibly damaging |
Het |
Trim43b |
G |
A |
9: 88,973,608 (GRCm39) |
L42F |
possibly damaging |
Het |
Ttf2 |
A |
C |
3: 100,852,089 (GRCm39) |
V1019G |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,292,158 (GRCm39) |
D97G |
probably benign |
Het |
Uncx |
A |
G |
5: 139,532,475 (GRCm39) |
N180S |
probably damaging |
Het |
Vmn2r51 |
A |
T |
7: 9,833,816 (GRCm39) |
H407Q |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,855,518 (GRCm39) |
E699K |
|
Het |
Wdr95 |
A |
G |
5: 149,504,165 (GRCm39) |
T324A |
probably benign |
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 |
R0597:Vmn2r23
|
UTSW |
6 |
123,706,680 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
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'- GATGCTAATACTGAATGGCATGAATGG -3'
(R):5'- CACTAAACTCAGTGCTGTTTTGC -3'
Sequencing Primer
(F):5'- GGCATGAATGGACTAACTTCCTTCTG -3'
(R):5'- CACTCTATAGATCAGGATGGCCTTG -3'
|
Posted On |
2022-06-15 |