Incidental Mutation 'R1424:Vmn2r23'
| ID |
161222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r23
|
| Ensembl Gene |
ENSMUSG00000091620 |
| Gene Name |
vomeronasal 2, receptor 23 |
| Synonyms |
EG435916 |
| MMRRC Submission |
039480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123702821-123742291 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 123713270 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 368
(Y368*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172391]
|
| AlphaFold |
E9PXI5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000172391
AA Change: Y368*
|
| SMART Domains |
Protein: ENSMUSP00000126682
Gene: ENSMUSG00000091620
AA Change: Y368*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
C |
A |
12: 72,892,895 (GRCm38) |
E415* |
probably null |
Het |
| 8430408G22Rik |
A |
G |
6: 116,652,005 (GRCm38) |
N103S |
possibly damaging |
Het |
| Abcb10 |
C |
T |
8: 123,962,052 (GRCm38) |
G495D |
probably damaging |
Het |
| Acad12 |
C |
T |
5: 121,604,322 (GRCm38) |
A408T |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,230,247 (GRCm38) |
H632L |
probably benign |
Het |
| Anxa5 |
A |
T |
3: 36,452,292 (GRCm38) |
|
probably null |
Het |
| Ap1m2 |
A |
T |
9: 21,298,204 (GRCm38) |
I392N |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,276,791 (GRCm38) |
|
probably benign |
Het |
| Cel |
C |
T |
2: 28,559,624 (GRCm38) |
A243T |
probably damaging |
Het |
| Dgka |
A |
T |
10: 128,733,333 (GRCm38) |
S177T |
possibly damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,639,347 (GRCm38) |
T836A |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,913,193 (GRCm38) |
S1444G |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,561,537 (GRCm38) |
D176G |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,678,942 (GRCm38) |
I230T |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,634,108 (GRCm38) |
I328F |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,540,178 (GRCm38) |
L179S |
probably damaging |
Het |
| Fgb |
A |
T |
3: 83,046,763 (GRCm38) |
I56N |
probably damaging |
Het |
| Fmo1 |
C |
T |
1: 162,830,066 (GRCm38) |
R502Q |
probably damaging |
Het |
| Fndc3a |
C |
T |
14: 72,574,371 (GRCm38) |
A340T |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,726,314 (GRCm38) |
Q1429K |
probably benign |
Het |
| Gm3443 |
A |
T |
19: 21,557,595 (GRCm38) |
I75F |
possibly damaging |
Het |
| Gtpbp6 |
C |
T |
5: 110,104,289 (GRCm38) |
|
probably null |
Het |
| Gtsf1 |
A |
T |
15: 103,409,643 (GRCm38) |
Y156* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,646,794 (GRCm38) |
T3452A |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,369,255 (GRCm38) |
V112E |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,519,991 (GRCm38) |
T256K |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,826,916 (GRCm38) |
V63M |
unknown |
Het |
| Matn3 |
G |
T |
12: 8,961,132 (GRCm38) |
A348S |
possibly damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,121 (GRCm38) |
|
probably null |
Het |
| Nsd3 |
A |
G |
8: 25,700,566 (GRCm38) |
N175S |
probably damaging |
Het |
| Olfr1260 |
C |
T |
2: 89,978,071 (GRCm38) |
Q98* |
probably null |
Het |
| Olfr412 |
C |
A |
11: 74,364,954 (GRCm38) |
P95Q |
probably benign |
Het |
| Olfr729 |
C |
A |
14: 50,148,465 (GRCm38) |
M136I |
possibly damaging |
Het |
| Olfr749 |
A |
T |
14: 50,737,064 (GRCm38) |
F33I |
probably benign |
Het |
| Pcdhb12 |
T |
A |
18: 37,438,079 (GRCm38) |
N759K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,573,428 (GRCm38) |
|
probably benign |
Het |
| Polq |
G |
A |
16: 37,086,528 (GRCm38) |
D2284N |
probably damaging |
Het |
| Prdm12 |
C |
T |
2: 31,643,811 (GRCm38) |
R147C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,383 (GRCm38) |
D824G |
probably benign |
Het |
| Rere |
C |
T |
4: 150,617,038 (GRCm38) |
R1292C |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,780,593 (GRCm38) |
L294* |
probably null |
Het |
| Sbf2 |
A |
T |
7: 110,315,026 (GRCm38) |
C1650S |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,161,866 (GRCm38) |
T1751I |
probably damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,903,699 (GRCm38) |
|
probably null |
Het |
| Shank2 |
T |
A |
7: 144,052,372 (GRCm38) |
D97E |
probably damaging |
Het |
| Tab2 |
A |
C |
10: 7,920,048 (GRCm38) |
S149R |
possibly damaging |
Het |
| Taok1 |
G |
T |
11: 77,549,364 (GRCm38) |
R606S |
probably benign |
Het |
| Tas2r121 |
A |
G |
6: 132,700,682 (GRCm38) |
L109P |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,931,808 (GRCm38) |
M175V |
probably benign |
Het |
| Tmprss11b |
T |
C |
5: 86,664,973 (GRCm38) |
K155E |
probably benign |
Het |
| Tmtc2 |
G |
T |
10: 105,413,368 (GRCm38) |
T168N |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tsga10ip |
C |
T |
19: 5,390,914 (GRCm38) |
|
probably null |
Het |
| Tuba8 |
A |
G |
6: 121,220,511 (GRCm38) |
N44S |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,543,732 (GRCm38) |
V590A |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,542,878 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Vmn2r23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Vmn2r23
|
APN |
6 |
123,729,725 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01012:Vmn2r23
|
APN |
6 |
123,729,596 (GRCm38) |
missense |
probably benign |
|
|
IGL01073:Vmn2r23
|
APN |
6 |
123,712,800 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01547:Vmn2r23
|
APN |
6 |
123,704,424 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01571:Vmn2r23
|
APN |
6 |
123,704,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01950:Vmn2r23
|
APN |
6 |
123,741,886 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02028:Vmn2r23
|
APN |
6 |
123,741,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02248:Vmn2r23
|
APN |
6 |
123,741,744 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02318:Vmn2r23
|
APN |
6 |
123,741,836 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02649:Vmn2r23
|
APN |
6 |
123,704,478 (GRCm38) |
missense |
probably benign |
|
|
IGL02831:Vmn2r23
|
APN |
6 |
123,704,385 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL02832:Vmn2r23
|
APN |
6 |
123,704,396 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02865:Vmn2r23
|
APN |
6 |
123,741,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02964:Vmn2r23
|
APN |
6 |
123,741,782 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03347:Vmn2r23
|
APN |
6 |
123,704,374 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03396:Vmn2r23
|
APN |
6 |
123,729,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4472001:Vmn2r23
|
UTSW |
6 |
123,712,977 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0597:Vmn2r23
|
UTSW |
6 |
123,729,721 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0677:Vmn2r23
|
UTSW |
6 |
123,713,451 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0904:Vmn2r23
|
UTSW |
6 |
123,742,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1330:Vmn2r23
|
UTSW |
6 |
123,742,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1629:Vmn2r23
|
UTSW |
6 |
123,713,427 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1842:Vmn2r23
|
UTSW |
6 |
123,729,690 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1867:Vmn2r23
|
UTSW |
6 |
123,702,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1919:Vmn2r23
|
UTSW |
6 |
123,713,010 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2087:Vmn2r23
|
UTSW |
6 |
123,741,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2338:Vmn2r23
|
UTSW |
6 |
123,704,425 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2568:Vmn2r23
|
UTSW |
6 |
123,742,188 (GRCm38) |
nonsense |
probably null |
|
|
R2867:Vmn2r23
|
UTSW |
6 |
123,713,164 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2867:Vmn2r23
|
UTSW |
6 |
123,713,164 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3500:Vmn2r23
|
UTSW |
6 |
123,713,170 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R3789:Vmn2r23
|
UTSW |
6 |
123,741,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4164:Vmn2r23
|
UTSW |
6 |
123,729,738 (GRCm38) |
missense |
probably benign |
|
|
R4506:Vmn2r23
|
UTSW |
6 |
123,702,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4652:Vmn2r23
|
UTSW |
6 |
123,741,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4697:Vmn2r23
|
UTSW |
6 |
123,741,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4840:Vmn2r23
|
UTSW |
6 |
123,713,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4983:Vmn2r23
|
UTSW |
6 |
123,733,349 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5276:Vmn2r23
|
UTSW |
6 |
123,712,977 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5392:Vmn2r23
|
UTSW |
6 |
123,704,364 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5528:Vmn2r23
|
UTSW |
6 |
123,713,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5529:Vmn2r23
|
UTSW |
6 |
123,713,451 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5664:Vmn2r23
|
UTSW |
6 |
123,713,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5749:Vmn2r23
|
UTSW |
6 |
123,733,273 (GRCm38) |
missense |
probably benign |
|
|
R5761:Vmn2r23
|
UTSW |
6 |
123,712,759 (GRCm38) |
missense |
probably benign |
0.39 |
|
R5762:Vmn2r23
|
UTSW |
6 |
123,733,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5868:Vmn2r23
|
UTSW |
6 |
123,712,942 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5935:Vmn2r23
|
UTSW |
6 |
123,741,895 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6242:Vmn2r23
|
UTSW |
6 |
123,704,400 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6416:Vmn2r23
|
UTSW |
6 |
123,712,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6524:Vmn2r23
|
UTSW |
6 |
123,713,425 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6576:Vmn2r23
|
UTSW |
6 |
123,733,273 (GRCm38) |
missense |
probably benign |
|
|
R6925:Vmn2r23
|
UTSW |
6 |
123,704,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7148:Vmn2r23
|
UTSW |
6 |
123,713,022 (GRCm38) |
missense |
probably benign |
|
|
R7215:Vmn2r23
|
UTSW |
6 |
123,704,364 (GRCm38) |
missense |
probably benign |
0.36 |
|
R7252:Vmn2r23
|
UTSW |
6 |
123,741,581 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7403:Vmn2r23
|
UTSW |
6 |
123,704,579 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8015:Vmn2r23
|
UTSW |
6 |
123,704,541 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8143:Vmn2r23
|
UTSW |
6 |
123,741,353 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8474:Vmn2r23
|
UTSW |
6 |
123,704,640 (GRCm38) |
missense |
probably benign |
0.36 |
|
R8520:Vmn2r23
|
UTSW |
6 |
123,741,656 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8679:Vmn2r23
|
UTSW |
6 |
123,713,472 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8713:Vmn2r23
|
UTSW |
6 |
123,703,032 (GRCm38) |
missense |
|
|
|
R8966:Vmn2r23
|
UTSW |
6 |
123,742,120 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9124:Vmn2r23
|
UTSW |
6 |
123,742,079 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R9163:Vmn2r23
|
UTSW |
6 |
123,741,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9189:Vmn2r23
|
UTSW |
6 |
123,704,364 (GRCm38) |
missense |
probably benign |
0.36 |
|
R9451:Vmn2r23
|
UTSW |
6 |
123,733,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9495:Vmn2r23
|
UTSW |
6 |
123,712,713 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9514:Vmn2r23
|
UTSW |
6 |
123,712,713 (GRCm38) |
missense |
probably benign |
0.30 |
|
RF018:Vmn2r23
|
UTSW |
6 |
123,713,116 (GRCm38) |
missense |
probably benign |
0.00 |
|
T0975:Vmn2r23
|
UTSW |
6 |
123,713,161 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Vmn2r23
|
UTSW |
6 |
123,742,108 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Vmn2r23
|
UTSW |
6 |
123,729,725 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGATGATATGCGGGGAGAAC -3'
(R):5'- TGAGCCTCCTTCTACTCTGAGTGAC -3'
Sequencing Primer
(F):5'- CTGGATCACAACGTCTGATTG -3'
(R):5'- TGACAGCTCCTCATGGAGTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation