Incidental Mutation 'R4428:Vmn2r22'
ID |
328273 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r22
|
Ensembl Gene |
ENSMUSG00000095486 |
Gene Name |
vomeronasal 2, receptor 22 |
Synonyms |
EG546913 |
MMRRC Submission |
041698-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R4428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
123586717-123627594 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123614817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 258
(T258A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170808]
|
AlphaFold |
E9Q7S8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170808
AA Change: T258A
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132043 Gene: ENSMUSG00000095486 AA Change: T258A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
81 |
473 |
1.4e-32 |
PFAM |
Pfam:NCD3G
|
517 |
570 |
2.2e-23 |
PFAM |
Pfam:7tm_3
|
601 |
838 |
1.2e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,263,164 (GRCm39) |
V708E |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,283,943 (GRCm39) |
Y82C |
probably benign |
Het |
Cd82 |
T |
C |
2: 93,250,214 (GRCm39) |
Y266C |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cmpk1 |
T |
C |
4: 114,820,559 (GRCm39) |
E180G |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,177,863 (GRCm39) |
I2066T |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fgf3 |
T |
C |
7: 144,394,444 (GRCm39) |
V86A |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,561,759 (GRCm39) |
I916T |
probably benign |
Het |
Gsk3b |
T |
A |
16: 38,014,298 (GRCm39) |
L252Q |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,118,466 (GRCm39) |
T94A |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,315,000 (GRCm39) |
|
probably benign |
Het |
Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,380,055 (GRCm39) |
D701G |
possibly damaging |
Het |
Mbd5 |
A |
T |
2: 49,169,776 (GRCm39) |
Q47L |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,623,558 (GRCm39) |
D1049G |
possibly damaging |
Het |
Olfml2a |
G |
T |
2: 38,831,755 (GRCm39) |
M111I |
probably damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,025 (GRCm39) |
F15S |
probably damaging |
Het |
Pld2 |
A |
T |
11: 70,432,160 (GRCm39) |
H93L |
probably damaging |
Het |
Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
Psg17 |
G |
T |
7: 18,550,717 (GRCm39) |
N379K |
probably benign |
Het |
Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,881,784 (GRCm39) |
Y617C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,498,087 (GRCm39) |
F31S |
probably benign |
Het |
Shq1 |
T |
C |
6: 100,647,889 (GRCm39) |
Y45C |
probably damaging |
Het |
Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
Skp2 |
A |
T |
15: 9,117,034 (GRCm39) |
N325K |
probably benign |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sp8 |
T |
A |
12: 118,812,938 (GRCm39) |
S264R |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,220,230 (GRCm39) |
|
probably benign |
Het |
Tardbp |
A |
G |
4: 148,709,659 (GRCm39) |
V54A |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
T |
4: 3,569,534 (GRCm39) |
I52K |
probably benign |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Umps |
A |
C |
16: 33,781,956 (GRCm39) |
V322G |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,773,286 (GRCm39) |
D445G |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,322,590 (GRCm39) |
G43E |
probably damaging |
Het |
|
Other mutations in Vmn2r22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01024:Vmn2r22
|
APN |
6 |
123,615,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01764:Vmn2r22
|
APN |
6 |
123,627,379 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02037:Vmn2r22
|
APN |
6 |
123,626,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02183:Vmn2r22
|
APN |
6 |
123,614,963 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02335:Vmn2r22
|
APN |
6 |
123,615,051 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02440:Vmn2r22
|
APN |
6 |
123,614,364 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02663:Vmn2r22
|
APN |
6 |
123,626,117 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03101:Vmn2r22
|
APN |
6 |
123,614,295 (GRCm39) |
missense |
probably benign |
0.09 |
R0266:Vmn2r22
|
UTSW |
6 |
123,614,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R0348:Vmn2r22
|
UTSW |
6 |
123,614,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R0780:Vmn2r22
|
UTSW |
6 |
123,614,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R0849:Vmn2r22
|
UTSW |
6 |
123,614,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R1074:Vmn2r22
|
UTSW |
6 |
123,626,217 (GRCm39) |
missense |
probably benign |
0.02 |
R1456:Vmn2r22
|
UTSW |
6 |
123,614,624 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1719:Vmn2r22
|
UTSW |
6 |
123,614,802 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1989:Vmn2r22
|
UTSW |
6 |
123,614,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R2928:Vmn2r22
|
UTSW |
6 |
123,614,402 (GRCm39) |
missense |
probably damaging |
0.96 |
R2939:Vmn2r22
|
UTSW |
6 |
123,614,594 (GRCm39) |
missense |
probably damaging |
0.99 |
R3727:Vmn2r22
|
UTSW |
6 |
123,627,584 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3782:Vmn2r22
|
UTSW |
6 |
123,627,591 (GRCm39) |
nonsense |
probably null |
|
R3873:Vmn2r22
|
UTSW |
6 |
123,614,339 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4344:Vmn2r22
|
UTSW |
6 |
123,614,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R4407:Vmn2r22
|
UTSW |
6 |
123,614,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R4430:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4431:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4701:Vmn2r22
|
UTSW |
6 |
123,627,428 (GRCm39) |
missense |
probably benign |
0.00 |
R5274:Vmn2r22
|
UTSW |
6 |
123,627,593 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
R5668:Vmn2r22
|
UTSW |
6 |
123,614,873 (GRCm39) |
missense |
probably benign |
0.06 |
R5776:Vmn2r22
|
UTSW |
6 |
123,614,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R6416:Vmn2r22
|
UTSW |
6 |
123,614,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R7788:Vmn2r22
|
UTSW |
6 |
123,614,559 (GRCm39) |
missense |
not run |
|
R8208:Vmn2r22
|
UTSW |
6 |
123,614,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R8267:Vmn2r22
|
UTSW |
6 |
123,615,000 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8400:Vmn2r22
|
UTSW |
6 |
123,614,486 (GRCm39) |
nonsense |
probably null |
|
R8814:Vmn2r22
|
UTSW |
6 |
123,614,789 (GRCm39) |
missense |
probably damaging |
0.96 |
R8850:Vmn2r22
|
UTSW |
6 |
123,614,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R9613:Vmn2r22
|
UTSW |
6 |
123,615,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCCCAGAATTTGATCCATGC -3'
(R):5'- CAGGGAATTATTCAACTGCTGC -3'
Sequencing Primer
(F):5'- AGAAAATGATAATCCTCCACCAAAG -3'
(R):5'- AACTGCTGCTATACTTCACTTGGG -3'
|
Posted On |
2015-07-07 |