Incidental Mutation 'U24488:Vmn2r54'
| ID |
509868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r54
|
| Ensembl Gene |
ENSMUSG00000096593 |
| Gene Name |
vomeronasal 2, receptor 54 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
U24488 (G0')
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12349356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 742
(I742T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
| AlphaFold |
A0A3B2W422 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086210
AA Change: I742T
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: I742T
| 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: 99.8%
- 10x: 99.3%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
G |
11: 5,580,772 (GRCm39) |
Y922C |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,235,673 (GRCm39) |
T1185A |
probably benign |
Het |
| Atf7ip2 |
A |
G |
16: 10,022,537 (GRCm39) |
N72S |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,579,954 (GRCm39) |
E567V |
probably damaging |
Het |
| Chmp1b |
T |
A |
18: 67,338,945 (GRCm39) |
L125Q |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,927 (GRCm39) |
N438K |
probably benign |
Het |
| Cplane1 |
G |
T |
15: 8,211,694 (GRCm39) |
G345C |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,573,795 (GRCm39) |
T2091M |
probably damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,108,204 (GRCm39) |
H342L |
possibly damaging |
Het |
| Dnah10 |
G |
A |
5: 124,891,044 (GRCm39) |
D3212N |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,374,648 (GRCm39) |
T1447I |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,695,349 (GRCm39) |
S540P |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,437 (GRCm39) |
H120L |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,940,653 (GRCm39) |
S433P |
probably damaging |
Het |
| Fundc1 |
G |
T |
X: 17,434,342 (GRCm39) |
A64E |
probably damaging |
Het |
| Garin2 |
A |
T |
12: 78,761,811 (GRCm39) |
K158N |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,302,534 (GRCm39) |
E933G |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hoxb3 |
C |
A |
11: 96,235,456 (GRCm39) |
Q128K |
probably benign |
Het |
| Il6st |
C |
T |
13: 112,631,168 (GRCm39) |
T369M |
possibly damaging |
Het |
| Itk |
A |
C |
11: 46,228,971 (GRCm39) |
M403R |
probably damaging |
Het |
| Katnip |
A |
T |
7: 125,369,853 (GRCm39) |
D147V |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,039,639 (GRCm39) |
Q17R |
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,610,604 (GRCm39) |
I28T |
possibly damaging |
Het |
| Kit |
A |
T |
5: 75,783,674 (GRCm39) |
R384* |
probably null |
Het |
| Ksr1 |
T |
A |
11: 78,938,267 (GRCm39) |
I42F |
probably damaging |
Het |
| Lhcgr |
T |
A |
17: 89,079,513 (GRCm39) |
|
probably null |
Het |
| Lrrc36 |
C |
T |
8: 106,176,384 (GRCm39) |
H253Y |
probably benign |
Het |
| Mad1l1 |
T |
A |
5: 140,300,840 (GRCm39) |
N19Y |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,950,230 (GRCm39) |
L1022* |
probably null |
Het |
| Mical3 |
T |
G |
6: 120,978,457 (GRCm39) |
Q225P |
possibly damaging |
Het |
| Minar1 |
C |
A |
9: 89,485,100 (GRCm39) |
G99V |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,876,895 (GRCm39) |
M182K |
unknown |
Het |
| Nepro |
A |
G |
16: 44,554,949 (GRCm39) |
T342A |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,117,653 (GRCm39) |
D459V |
possibly damaging |
Het |
| Nrcam |
C |
T |
12: 44,584,042 (GRCm39) |
P39S |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
| Ostm1 |
A |
G |
10: 42,555,227 (GRCm39) |
D83G |
possibly damaging |
Het |
| Otoa |
A |
T |
7: 120,717,763 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,143,040 (GRCm39) |
I824T |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,061,930 (GRCm39) |
R2534H |
probably benign |
Het |
| Plin2 |
A |
G |
4: 86,580,314 (GRCm39) |
V60A |
probably damaging |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,724 (GRCm39) |
L367P |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,005,182 (GRCm39) |
N912D |
probably damaging |
Het |
| Slc25a21 |
G |
T |
12: 56,785,282 (GRCm39) |
N198K |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 61,877,002 (GRCm39) |
D5G |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,028,815 (GRCm39) |
V438A |
probably benign |
Het |
| Tmem37 |
T |
C |
1: 119,995,684 (GRCm39) |
Y131C |
probably benign |
Het |
| Top2a |
A |
C |
11: 98,913,252 (GRCm39) |
M60R |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,162,963 (GRCm39) |
T1015I |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,171 (GRCm39) |
I19F |
probably benign |
Het |
| Vmn1r230 |
A |
C |
17: 21,067,014 (GRCm39) |
I68L |
probably benign |
Het |
| Vmn2r45 |
A |
C |
7: 8,475,361 (GRCm39) |
C556G |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,813,198 (GRCm39) |
K960E |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,900,405 (GRCm39) |
V87E |
probably damaging |
Het |
| Wiz |
C |
T |
17: 32,606,649 (GRCm39) |
E29K |
probably damaging |
Het |
| Wnk3 |
C |
T |
X: 149,992,456 (GRCm39) |
T298I |
probably damaging |
Het |
| Yif1b |
A |
C |
7: 28,943,594 (GRCm39) |
Q56P |
probably benign |
Het |
| Zbtb25 |
A |
G |
12: 76,396,014 (GRCm39) |
W403R |
probably benign |
Het |
| Zcrb1 |
A |
T |
15: 93,285,515 (GRCm39) |
S155R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,819,453 (GRCm39) |
I150K |
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 |
|
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 |
|
|
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 |
|
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'- GGTGACTCCCCTGAGAATTTATACC -3'
(R):5'- TGTCATCCAGTGCCAAGAGG -3'
Sequencing Primer
(F):5'- CTGAGAATTTATACCTTCTCTGGAGC -3'
(R):5'- ATCCAGTGCCAAGAGGGTTCTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation