Incidental Mutation 'R5536:Vmn2r54'
ID |
434824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r54
|
Ensembl Gene |
ENSMUSG00000096593 |
Gene Name |
vomeronasal 2, receptor 54 |
Synonyms |
|
MMRRC Submission |
043094-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R5536 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 12366343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 197
(V197G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
AlphaFold |
A0A3B2W422 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086210
AA Change: V197G
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000083386 Gene: ENSMUSG00000096593 AA Change: V197G
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
5 |
397 |
4.3e-58 |
PFAM |
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
Pfam:7tm_3
|
526 |
763 |
1.2e-54 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,772,149 (GRCm39) |
G446V |
possibly damaging |
Het |
Aadac |
T |
G |
3: 59,946,984 (GRCm39) |
N227K |
probably benign |
Het |
Acap1 |
C |
T |
11: 69,780,133 (GRCm39) |
G74R |
probably benign |
Het |
Adrm1 |
A |
G |
2: 179,813,981 (GRCm39) |
|
probably benign |
Het |
Appl1 |
G |
C |
14: 26,645,737 (GRCm39) |
S691* |
probably null |
Het |
Atp2a2 |
T |
C |
5: 122,595,245 (GRCm39) |
D1035G |
probably benign |
Het |
AW551984 |
A |
G |
9: 39,504,169 (GRCm39) |
I599T |
probably benign |
Het |
Col23a1 |
C |
A |
11: 51,458,776 (GRCm39) |
D304E |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,338,674 (GRCm39) |
R478G |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,464,412 (GRCm39) |
N3660D |
probably benign |
Het |
Drosha |
T |
A |
15: 12,929,797 (GRCm39) |
Y1331N |
possibly damaging |
Het |
E2f6 |
T |
G |
12: 16,874,685 (GRCm39) |
S256A |
probably benign |
Het |
Evc |
A |
G |
5: 37,483,927 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
Galnt2 |
T |
C |
8: 125,050,412 (GRCm39) |
C91R |
probably damaging |
Het |
Gm3095 |
G |
T |
14: 15,170,371 (GRCm39) |
M73I |
probably benign |
Het |
Gpr179 |
T |
A |
11: 97,234,641 (GRCm39) |
Q480L |
probably damaging |
Het |
Gucy2g |
T |
A |
19: 55,226,359 (GRCm39) |
I186F |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,631,042 (GRCm39) |
I919F |
probably benign |
Het |
Kdm3a |
A |
C |
6: 71,588,920 (GRCm39) |
V363G |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lama5 |
C |
T |
2: 179,831,142 (GRCm39) |
R1839H |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,707,389 (GRCm39) |
D208G |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,663,956 (GRCm39) |
D411G |
possibly damaging |
Het |
Marco |
T |
C |
1: 120,432,464 (GRCm39) |
S8G |
possibly damaging |
Het |
Mthfr |
T |
C |
4: 148,128,940 (GRCm39) |
F171S |
probably damaging |
Het |
Nlrx1 |
A |
T |
9: 44,175,183 (GRCm39) |
S198T |
probably damaging |
Het |
Nol10 |
C |
A |
12: 17,466,138 (GRCm39) |
S511* |
probably null |
Het |
Nup153 |
T |
C |
13: 46,836,485 (GRCm39) |
T1375A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,998,697 (GRCm39) |
S1367P |
probably damaging |
Het |
Or4x6 |
A |
G |
2: 89,949,183 (GRCm39) |
V253A |
probably benign |
Het |
Pcdha7 |
G |
A |
18: 37,108,303 (GRCm39) |
V443M |
probably damaging |
Het |
Plekha1 |
G |
T |
7: 130,511,331 (GRCm39) |
R305I |
probably damaging |
Het |
Psmb2 |
T |
A |
4: 126,578,002 (GRCm39) |
I60N |
probably damaging |
Het |
Rad17 |
C |
A |
13: 100,767,612 (GRCm39) |
G330C |
probably damaging |
Het |
Slc5a6 |
A |
G |
5: 31,200,446 (GRCm39) |
S80P |
probably damaging |
Het |
Srgap2 |
T |
A |
1: 131,228,128 (GRCm39) |
|
probably null |
Het |
Taf8 |
C |
A |
17: 47,805,407 (GRCm39) |
R164L |
possibly damaging |
Het |
Tmem87a |
C |
A |
2: 120,227,911 (GRCm39) |
D79Y |
probably damaging |
Het |
Tmtc4 |
G |
A |
14: 123,170,291 (GRCm39) |
R574W |
probably benign |
Het |
Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
Usf3 |
A |
G |
16: 44,037,733 (GRCm39) |
T738A |
probably benign |
Het |
Zbtb40 |
G |
T |
4: 136,714,642 (GRCm39) |
P1049Q |
probably damaging |
Het |
Zfp551 |
A |
T |
7: 12,149,488 (GRCm39) |
S640R |
possibly damaging |
Het |
Zfp932 |
T |
A |
5: 110,157,713 (GRCm39) |
C470* |
probably null |
Het |
Zkscan8 |
T |
C |
13: 21,710,838 (GRCm39) |
I91V |
probably damaging |
Het |
Zmat4 |
T |
C |
8: 24,238,508 (GRCm39) |
V30A |
probably damaging |
Het |
|
Other mutations in Vmn2r54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Vmn2r54
|
APN |
7 |
12,365,840 (GRCm39) |
splice site |
probably benign |
|
IGL01778:Vmn2r54
|
APN |
7 |
12,366,009 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01998:Vmn2r54
|
APN |
7 |
12,349,227 (GRCm39) |
missense |
probably benign |
|
IGL02028:Vmn2r54
|
APN |
7 |
12,366,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02064:Vmn2r54
|
APN |
7 |
12,349,533 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02238:Vmn2r54
|
APN |
7 |
12,369,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Vmn2r54
|
APN |
7 |
12,366,355 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03120:Vmn2r54
|
APN |
7 |
12,349,314 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Vmn2r54
|
UTSW |
7 |
12,363,669 (GRCm39) |
missense |
probably benign |
0.06 |
R0212:Vmn2r54
|
UTSW |
7 |
12,366,424 (GRCm39) |
missense |
probably benign |
|
R0360:Vmn2r54
|
UTSW |
7 |
12,349,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Vmn2r54
|
UTSW |
7 |
12,366,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1673:Vmn2r54
|
UTSW |
7 |
12,350,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1738:Vmn2r54
|
UTSW |
7 |
12,369,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1856:Vmn2r54
|
UTSW |
7 |
12,366,238 (GRCm39) |
missense |
probably benign |
|
R2012:Vmn2r54
|
UTSW |
7 |
12,349,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R2038:Vmn2r54
|
UTSW |
7 |
12,363,637 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2160:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably benign |
0.29 |
R2397:Vmn2r54
|
UTSW |
7 |
12,349,578 (GRCm39) |
missense |
probably damaging |
0.98 |
R2430:Vmn2r54
|
UTSW |
7 |
12,365,933 (GRCm39) |
missense |
probably damaging |
0.99 |
R2829:Vmn2r54
|
UTSW |
7 |
12,349,617 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2975:Vmn2r54
|
UTSW |
7 |
12,369,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3005:Vmn2r54
|
UTSW |
7 |
12,349,221 (GRCm39) |
missense |
probably benign |
0.28 |
R3725:Vmn2r54
|
UTSW |
7 |
12,366,223 (GRCm39) |
missense |
probably benign |
0.42 |
R4486:Vmn2r54
|
UTSW |
7 |
12,366,199 (GRCm39) |
nonsense |
probably null |
|
R4881:Vmn2r54
|
UTSW |
7 |
12,363,598 (GRCm39) |
missense |
probably benign |
0.00 |
R4907:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
R5637:Vmn2r54
|
UTSW |
7 |
12,349,296 (GRCm39) |
missense |
probably benign |
0.41 |
R5703:Vmn2r54
|
UTSW |
7 |
12,363,594 (GRCm39) |
missense |
probably benign |
0.22 |
R5769:Vmn2r54
|
UTSW |
7 |
12,349,209 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5972:Vmn2r54
|
UTSW |
7 |
12,369,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R5972:Vmn2r54
|
UTSW |
7 |
12,349,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R5977:Vmn2r54
|
UTSW |
7 |
12,366,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Vmn2r54
|
UTSW |
7 |
12,366,205 (GRCm39) |
missense |
probably damaging |
0.98 |
R6176:Vmn2r54
|
UTSW |
7 |
12,349,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Vmn2r54
|
UTSW |
7 |
12,365,883 (GRCm39) |
missense |
probably benign |
0.00 |
R6371:Vmn2r54
|
UTSW |
7 |
12,349,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6804:Vmn2r54
|
UTSW |
7 |
12,363,792 (GRCm39) |
missense |
probably benign |
|
R6886:Vmn2r54
|
UTSW |
7 |
12,366,080 (GRCm39) |
missense |
probably benign |
0.02 |
R7041:Vmn2r54
|
UTSW |
7 |
12,363,751 (GRCm39) |
missense |
probably damaging |
0.99 |
R7058:Vmn2r54
|
UTSW |
7 |
12,349,722 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7113:Vmn2r54
|
UTSW |
7 |
12,350,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7124:Vmn2r54
|
UTSW |
7 |
12,356,078 (GRCm39) |
missense |
probably benign |
0.00 |
R7126:Vmn2r54
|
UTSW |
7 |
12,366,088 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7236:Vmn2r54
|
UTSW |
7 |
12,365,917 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7337:Vmn2r54
|
UTSW |
7 |
12,356,044 (GRCm39) |
missense |
probably benign |
0.00 |
R7406:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
R7634:Vmn2r54
|
UTSW |
7 |
12,349,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:Vmn2r54
|
UTSW |
7 |
12,366,196 (GRCm39) |
missense |
probably damaging |
0.98 |
R8139:Vmn2r54
|
UTSW |
7 |
12,349,743 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8158:Vmn2r54
|
UTSW |
7 |
12,349,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R8179:Vmn2r54
|
UTSW |
7 |
12,366,018 (GRCm39) |
nonsense |
probably null |
|
R8440:Vmn2r54
|
UTSW |
7 |
12,350,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8712:Vmn2r54
|
UTSW |
7 |
12,369,877 (GRCm39) |
missense |
probably benign |
0.22 |
R8853:Vmn2r54
|
UTSW |
7 |
12,349,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Vmn2r54
|
UTSW |
7 |
12,363,702 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9146:Vmn2r54
|
UTSW |
7 |
12,366,647 (GRCm39) |
missense |
probably benign |
0.05 |
R9157:Vmn2r54
|
UTSW |
7 |
12,366,055 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9344:Vmn2r54
|
UTSW |
7 |
12,366,283 (GRCm39) |
missense |
probably benign |
|
R9423:Vmn2r54
|
UTSW |
7 |
12,349,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R9534:Vmn2r54
|
UTSW |
7 |
12,366,093 (GRCm39) |
missense |
probably benign |
0.03 |
R9632:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9661:Vmn2r54
|
UTSW |
7 |
12,349,166 (GRCm39) |
missense |
probably benign |
|
R9710:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
U24488:Vmn2r54
|
UTSW |
7 |
12,349,356 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0066:Vmn2r54
|
UTSW |
7 |
12,349,297 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Vmn2r54
|
UTSW |
7 |
12,366,035 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATAGCCCTGCTGCTGTGATAC -3'
(R):5'- ATGCAGTTACCCAGCTGATAATTC -3'
Sequencing Primer
(F):5'- TACAGAAGGCCAAATGTGCCTTG -3'
(R):5'- AATTCACTTTCAATGGTCCTGGG -3'
|
Posted On |
2016-10-24 |