Incidental Mutation 'R6242:Vmn2r23'
ID |
505292 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r23
|
Ensembl Gene |
ENSMUSG00000091620 |
Gene Name |
vomeronasal 2, receptor 23 |
Synonyms |
EG435916 |
MMRRC Submission |
044434-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R6242 (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 123681359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 89
(E89G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172391]
|
AlphaFold |
E9PXI5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172391
AA Change: E89G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126682 Gene: ENSMUSG00000091620 AA Change: E89G
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
G |
T |
15: 98,501,896 (GRCm39) |
C239* |
probably null |
Het |
Akr1c6 |
A |
G |
13: 4,486,361 (GRCm39) |
Q56R |
probably benign |
Het |
Apaf1 |
T |
A |
10: 90,898,025 (GRCm39) |
D244V |
probably damaging |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Arhgef11 |
C |
A |
3: 87,635,385 (GRCm39) |
A898E |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,655,433 (GRCm39) |
N1148Y |
probably damaging |
Het |
Atf6 |
T |
A |
1: 170,621,545 (GRCm39) |
Q492L |
possibly damaging |
Het |
Atrnl1 |
G |
T |
19: 57,630,910 (GRCm39) |
V226F |
probably benign |
Het |
Cfap68 |
C |
T |
9: 50,675,215 (GRCm39) |
E148K |
probably benign |
Het |
Cntnap1 |
A |
T |
11: 101,073,364 (GRCm39) |
Y615F |
probably damaging |
Het |
Crybg3 |
T |
C |
16: 59,376,053 (GRCm39) |
T1734A |
probably benign |
Het |
Ctdp1 |
A |
C |
18: 80,502,427 (GRCm39) |
V161G |
probably damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,311,587 (GRCm39) |
V85E |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Epha6 |
A |
T |
16: 59,503,025 (GRCm39) |
W961R |
probably damaging |
Het |
Fam114a1 |
A |
G |
5: 65,188,695 (GRCm39) |
E475G |
probably damaging |
Het |
Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
Fancm |
A |
T |
12: 65,163,216 (GRCm39) |
Q1460L |
probably benign |
Het |
Fancm |
C |
A |
12: 65,163,223 (GRCm39) |
N1462K |
probably benign |
Het |
Fgf14 |
T |
C |
14: 124,913,940 (GRCm39) |
K64E |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
Garem1 |
C |
G |
18: 21,262,229 (GRCm39) |
V862L |
possibly damaging |
Het |
Grin3b |
G |
A |
10: 79,812,013 (GRCm39) |
G814R |
probably damaging |
Het |
Hacd4 |
A |
G |
4: 88,332,524 (GRCm39) |
S226P |
probably benign |
Het |
Htt |
A |
G |
5: 35,003,356 (GRCm39) |
Y1277C |
probably damaging |
Het |
Igkv1-131 |
T |
A |
6: 67,743,062 (GRCm39) |
D107V |
probably damaging |
Het |
Iqcc |
T |
C |
4: 129,510,639 (GRCm39) |
D292G |
probably damaging |
Het |
Krtap13 |
C |
T |
16: 88,548,384 (GRCm39) |
V35I |
probably damaging |
Het |
Liat1 |
T |
C |
11: 75,890,981 (GRCm39) |
S32P |
probably damaging |
Het |
Lrrc59 |
G |
T |
11: 94,525,809 (GRCm39) |
L132F |
possibly damaging |
Het |
Mcub |
T |
C |
3: 129,709,444 (GRCm39) |
S290G |
probably benign |
Het |
Mettl4 |
A |
G |
17: 95,042,802 (GRCm39) |
W345R |
probably damaging |
Het |
Msgn1 |
G |
A |
12: 11,258,526 (GRCm39) |
R142W |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,180,893 (GRCm39) |
I761V |
probably benign |
Het |
Neb |
T |
A |
2: 52,066,824 (GRCm39) |
K5879M |
probably damaging |
Het |
Nkd2 |
C |
T |
13: 73,970,905 (GRCm39) |
V226M |
probably damaging |
Het |
Nt5el |
T |
A |
13: 105,246,048 (GRCm39) |
V203E |
probably benign |
Het |
Or51a24 |
T |
G |
7: 103,733,771 (GRCm39) |
H172P |
possibly damaging |
Het |
Or5b106 |
T |
A |
19: 13,123,450 (GRCm39) |
H191L |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,832,856 (GRCm39) |
L393* |
probably null |
Het |
Pcdhgb6 |
G |
A |
18: 37,876,608 (GRCm39) |
V439I |
probably benign |
Het |
Pde1a |
T |
A |
2: 79,959,136 (GRCm39) |
T15S |
probably benign |
Het |
Pgr |
T |
A |
9: 8,900,980 (GRCm39) |
I171N |
probably benign |
Het |
Podxl |
T |
A |
6: 31,503,180 (GRCm39) |
D296V |
probably benign |
Het |
Polr3e |
A |
T |
7: 120,539,690 (GRCm39) |
E479V |
possibly damaging |
Het |
Prdm10 |
A |
T |
9: 31,252,548 (GRCm39) |
H427L |
possibly damaging |
Het |
Prl5a1 |
A |
T |
13: 28,326,538 (GRCm39) |
K5* |
probably null |
Het |
Prph |
A |
G |
15: 98,955,004 (GRCm39) |
S325G |
probably damaging |
Het |
Rabl2 |
C |
A |
15: 89,468,555 (GRCm39) |
W49L |
probably benign |
Het |
Rbbp8nl |
T |
A |
2: 179,922,767 (GRCm39) |
I209F |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Scn7a |
T |
C |
2: 66,531,110 (GRCm39) |
D589G |
probably benign |
Het |
Sdr42e1 |
A |
T |
8: 118,389,936 (GRCm39) |
L235Q |
possibly damaging |
Het |
Serpina3a |
T |
C |
12: 104,082,260 (GRCm39) |
M11T |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,909,184 (GRCm39) |
K399* |
probably null |
Het |
Slco4c1 |
T |
A |
1: 96,767,008 (GRCm39) |
T337S |
probably damaging |
Het |
Spc25 |
A |
T |
2: 69,027,555 (GRCm39) |
F112L |
probably damaging |
Het |
Swt1 |
A |
G |
1: 151,283,365 (GRCm39) |
S331P |
probably benign |
Het |
Tab1 |
A |
T |
15: 80,039,971 (GRCm39) |
K264* |
probably null |
Het |
Tagln3 |
T |
A |
16: 45,544,701 (GRCm39) |
|
probably benign |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tbck |
A |
G |
3: 132,400,189 (GRCm39) |
D80G |
probably benign |
Het |
Tcim |
A |
T |
8: 24,928,911 (GRCm39) |
M1K |
probably null |
Het |
Thap2 |
A |
G |
10: 115,208,831 (GRCm39) |
S37P |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,076,967 (GRCm39) |
|
probably null |
Het |
Tln1 |
G |
A |
4: 43,533,145 (GRCm39) |
S2390L |
probably damaging |
Het |
Trpm5 |
T |
G |
7: 142,626,919 (GRCm39) |
I1101L |
probably benign |
Het |
Ttc3 |
T |
G |
16: 94,243,554 (GRCm39) |
M831R |
probably benign |
Het |
Tulp3 |
A |
G |
6: 128,300,050 (GRCm39) |
C459R |
probably damaging |
Het |
Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,165,800 (GRCm39) |
T195S |
possibly damaging |
Het |
Urgcp |
A |
G |
11: 5,666,691 (GRCm39) |
L549P |
probably benign |
Het |
Usp10 |
G |
T |
8: 120,668,577 (GRCm39) |
A293S |
probably benign |
Het |
Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
Wif1 |
T |
C |
10: 120,870,366 (GRCm39) |
I40T |
possibly damaging |
Het |
Zmynd8 |
G |
A |
2: 165,740,867 (GRCm39) |
R6C |
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 |
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 |
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'- AATGTCCTGCTTGTTTCTTGGA -3'
(R):5'- ACTGCAACCAGCTTATCAGTC -3'
Sequencing Primer
(F):5'- ATCCAGAATTTGAGAGGGAGC -3'
(R):5'- AGTCTTCTCAGGCCTACAACTGTAG -3'
|
Posted On |
2018-02-28 |