Incidental Mutation 'R0212:Vmn2r54'
| ID |
33536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r54
|
| Ensembl Gene |
ENSMUSG00000096593 |
| Gene Name |
vomeronasal 2, receptor 54 |
| Synonyms |
|
| MMRRC Submission |
038463-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R0212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12366424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 170
(Y170F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
| AlphaFold |
A0A3B2W422 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086210
AA Change: Y170F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: Y170F
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
G |
A |
5: 36,006,254 (GRCm39) |
|
probably null |
Het |
| Adat1 |
T |
A |
8: 112,713,840 (GRCm39) |
D113V |
possibly damaging |
Het |
| Arhgap40 |
T |
G |
2: 158,392,495 (GRCm39) |
L656V |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,296,584 (GRCm39) |
I330T |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,235,454 (GRCm39) |
D2137G |
probably damaging |
Het |
| Cd8a |
G |
A |
6: 71,350,633 (GRCm39) |
E33K |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,622,398 (GRCm39) |
G594C |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,894,767 (GRCm39) |
D31V |
probably damaging |
Het |
| Cmpk1 |
A |
T |
4: 114,822,216 (GRCm39) |
M111K |
possibly damaging |
Het |
| Crispld2 |
T |
G |
8: 120,737,370 (GRCm39) |
H40Q |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,069,586 (GRCm39) |
T441A |
probably benign |
Het |
| Dpm1 |
T |
C |
2: 168,069,414 (GRCm39) |
N5S |
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,941,196 (GRCm39) |
|
probably null |
Het |
| Fam83f |
A |
T |
15: 80,574,779 (GRCm39) |
M229L |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 91,965,189 (GRCm39) |
D474V |
probably damaging |
Het |
| Fgf21 |
G |
T |
7: 45,263,526 (GRCm39) |
P184Q |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,862 (GRCm39) |
D1008V |
probably damaging |
Het |
| Gjd2 |
T |
C |
2: 113,841,953 (GRCm39) |
T175A |
probably benign |
Het |
| Gphn |
C |
T |
12: 78,684,326 (GRCm39) |
T577I |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,563,964 (GRCm39) |
N18K |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,797,972 (GRCm39) |
R149G |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,847,506 (GRCm39) |
L330H |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,497,546 (GRCm39) |
H122L |
probably benign |
Het |
| Inpp5e |
T |
C |
2: 26,298,352 (GRCm39) |
|
probably null |
Het |
| Ism1 |
T |
C |
2: 139,582,177 (GRCm39) |
L163S |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,653,251 (GRCm39) |
V375E |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,308,293 (GRCm39) |
F306V |
probably damaging |
Het |
| Kif19a |
A |
T |
11: 114,675,736 (GRCm39) |
I403F |
possibly damaging |
Het |
| Klf12 |
A |
T |
14: 100,260,298 (GRCm39) |
S144T |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,810,570 (GRCm39) |
H747Y |
possibly damaging |
Het |
| Mccc2 |
A |
G |
13: 100,091,163 (GRCm39) |
Y445H |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,980,132 (GRCm39) |
|
probably null |
Het |
| Metap2 |
T |
A |
10: 93,697,242 (GRCm39) |
K479N |
probably damaging |
Het |
| Mief2 |
A |
T |
11: 60,621,493 (GRCm39) |
D62V |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,656,719 (GRCm39) |
D407G |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,296,659 (GRCm39) |
R210G |
probably damaging |
Het |
| Nkx2-2 |
T |
C |
2: 147,026,090 (GRCm39) |
H216R |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,048,277 (GRCm39) |
E694G |
possibly damaging |
Het |
| Nptn |
A |
T |
9: 58,535,164 (GRCm39) |
Y103F |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,670,186 (GRCm39) |
|
probably benign |
Het |
| Numbl |
T |
C |
7: 26,980,184 (GRCm39) |
S389P |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,236 (GRCm39) |
V277A |
probably benign |
Het |
| Or1q1 |
T |
A |
2: 36,887,644 (GRCm39) |
V274E |
possibly damaging |
Het |
| Or1q1 |
A |
T |
2: 36,887,335 (GRCm39) |
D171V |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,435 (GRCm39) |
F179S |
probably damaging |
Het |
| Or5i1 |
C |
T |
2: 87,613,826 (GRCm39) |
P314L |
unknown |
Het |
| Or8g20 |
C |
A |
9: 39,396,384 (GRCm39) |
S55I |
probably damaging |
Het |
| Osm |
T |
G |
11: 4,188,465 (GRCm39) |
S31A |
probably benign |
Het |
| Paqr4 |
T |
C |
17: 23,957,294 (GRCm39) |
M70V |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,302,064 (GRCm39) |
Y1607N |
probably benign |
Het |
| Plec |
A |
C |
15: 76,075,505 (GRCm39) |
Y402* |
probably null |
Het |
| Polq |
A |
G |
16: 36,887,216 (GRCm39) |
K1631E |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,696 (GRCm39) |
V129A |
possibly damaging |
Het |
| Prm2 |
A |
G |
16: 10,609,463 (GRCm39) |
|
probably benign |
Het |
| Prtn3 |
A |
G |
10: 79,716,971 (GRCm39) |
Y112C |
probably damaging |
Het |
| Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,428 (GRCm39) |
|
probably null |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Slc10a1 |
A |
C |
12: 81,014,486 (GRCm39) |
L78R |
possibly damaging |
Het |
| Slc26a5 |
A |
T |
5: 22,028,547 (GRCm39) |
Y340* |
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,796,970 (GRCm39) |
|
probably null |
Het |
| St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
| St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,820,575 (GRCm39) |
S1226T |
probably benign |
Het |
| Togaram2 |
C |
T |
17: 72,031,978 (GRCm39) |
L866F |
probably damaging |
Het |
| Txndc17 |
A |
G |
11: 72,098,558 (GRCm39) |
T37A |
probably benign |
Het |
| Vmn2r105 |
C |
A |
17: 20,428,827 (GRCm39) |
V750F |
possibly damaging |
Het |
| Wrnip1 |
T |
C |
13: 33,005,889 (GRCm39) |
V577A |
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,660,529 (GRCm39) |
T226A |
probably benign |
Het |
| Zfp948 |
T |
C |
17: 21,808,422 (GRCm39) |
I538T |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,764,736 (GRCm39) |
E1401G |
possibly 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 |
|
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 |
|
|
R5536:Vmn2r54
|
UTSW |
7 |
12,366,343 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GCCAAATGTGCCTTGCAACACC -3'
(R):5'- GGCTCTTCCTTGACAGGTCAGTTAC -3'
Sequencing Primer
(F):5'- CTTGCAACACCTGGGAAATG -3'
(R):5'- TACCCAGTCTGAGTGACAAGATTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation