Incidental Mutation 'R7113:Vmn2r54'
| ID |
551620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r54
|
| Ensembl Gene |
ENSMUSG00000096593 |
| Gene Name |
vomeronasal 2, receptor 54 |
| Synonyms |
|
| MMRRC Submission |
045205-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R7113 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12350001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 527
(L527P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
| AlphaFold |
A0A3B2W422 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086210
AA Change: L527P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: L527P
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (53/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
C |
13: 104,449,267 (GRCm39) |
S226P |
probably benign |
Het |
| Adarb2 |
T |
C |
13: 8,781,881 (GRCm39) |
Y586H |
probably damaging |
Het |
| Ano7 |
A |
T |
1: 93,313,342 (GRCm39) |
E160V |
probably benign |
Het |
| Apob |
G |
C |
12: 8,045,539 (GRCm39) |
A895P |
probably damaging |
Het |
| Ccdc157 |
T |
C |
11: 4,098,889 (GRCm39) |
T206A |
possibly damaging |
Het |
| Ceacam18 |
A |
G |
7: 43,291,400 (GRCm39) |
N281D |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,110,083 (GRCm39) |
D337G |
probably damaging |
Het |
| Chil4 |
T |
G |
3: 106,121,664 (GRCm39) |
K62Q |
probably benign |
Het |
| Cic |
A |
T |
7: 24,972,869 (GRCm39) |
I867F |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,968,064 (GRCm39) |
E761G |
probably damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,674,403 (GRCm39) |
Y493F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,075,788 (GRCm39) |
F3026L |
probably benign |
Het |
| Ehd3 |
T |
A |
17: 74,137,179 (GRCm39) |
D449E |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,853,597 (GRCm39) |
D3696E |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,566 (GRCm39) |
I1294N |
probably damaging |
Het |
| Il19 |
T |
C |
1: 130,862,732 (GRCm39) |
I139V |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 66,993,780 (GRCm39) |
I87N |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,301,448 (GRCm39) |
L433P |
probably damaging |
Het |
| Kif9 |
A |
T |
9: 110,335,732 (GRCm39) |
N378Y |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,697,664 (GRCm39) |
V440E |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,509,625 (GRCm39) |
I781T |
unknown |
Het |
| Manea |
A |
T |
4: 26,336,718 (GRCm39) |
L186Q |
probably damaging |
Het |
| Mas1 |
A |
G |
17: 13,061,324 (GRCm39) |
I33T |
probably benign |
Het |
| Med13l |
A |
G |
5: 118,864,330 (GRCm39) |
S389G |
probably benign |
Het |
| Nxph3 |
T |
C |
11: 95,401,892 (GRCm39) |
N174S |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,568 (GRCm39) |
F105Y |
possibly damaging |
Het |
| Or8g52 |
G |
C |
9: 39,630,973 (GRCm39) |
C150S |
probably benign |
Het |
| Pcdha5 |
A |
G |
18: 37,094,757 (GRCm39) |
D422G |
probably benign |
Het |
| Pias4 |
A |
C |
10: 80,990,287 (GRCm39) |
V416G |
possibly damaging |
Het |
| Pik3cg |
T |
A |
12: 32,255,666 (GRCm39) |
Y107F |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,590,203 (GRCm39) |
W156R |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,492 (GRCm39) |
D167G |
probably damaging |
Het |
| Podxl |
T |
A |
6: 31,501,668 (GRCm39) |
|
probably null |
Het |
| Ppp1r2 |
T |
C |
16: 31,073,536 (GRCm39) |
D197G |
probably benign |
Het |
| Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,025 (GRCm39) |
S368T |
probably benign |
Het |
| Rdh8 |
G |
T |
9: 20,736,623 (GRCm39) |
R230L |
probably benign |
Het |
| Rpl35 |
A |
C |
2: 38,894,168 (GRCm39) |
L58R |
probably damaging |
Het |
| Rtp3 |
A |
C |
9: 110,815,767 (GRCm39) |
C199W |
probably damaging |
Het |
| S100pbp |
G |
A |
4: 129,075,896 (GRCm39) |
T143I |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,904 (GRCm39) |
E782G |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,484,205 (GRCm39) |
V114A |
probably benign |
Het |
| Speer1c |
G |
A |
5: 10,292,977 (GRCm39) |
P189S |
|
Het |
| Stpg2 |
G |
A |
3: 139,407,535 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,113 (GRCm39) |
S224G |
possibly damaging |
Het |
| Triml2 |
T |
A |
8: 43,636,370 (GRCm39) |
Y52N |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,783,765 (GRCm39) |
I236N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,507,054 (GRCm39) |
D602G |
probably benign |
Het |
| Upk1a |
A |
G |
7: 30,309,236 (GRCm39) |
S29P |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,399,011 (GRCm39) |
|
probably null |
Het |
| Vstm2l |
G |
T |
2: 157,756,649 (GRCm39) |
|
probably benign |
Het |
| Vwf |
G |
T |
6: 125,632,007 (GRCm39) |
G1952V |
|
Het |
| Zfand6 |
A |
C |
7: 84,265,077 (GRCm39) |
I208S |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,638,462 (GRCm39) |
I1386T |
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 |
|
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'- CACAGCAAAGGTGGTCTGAC -3'
(R):5'- ACTAATTGATGGAGAGGCTGC -3'
Sequencing Primer
(F):5'- TGGTCTGACGGAGGAGGC -3'
(R):5'- GCTTTAGATAACTTCCTTCAGAGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation