Incidental Mutation 'R1022:Vmn2r90'
ID |
98809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r90
|
Ensembl Gene |
ENSMUSG00000092120 |
Gene Name |
vomeronasal 2, receptor 90 |
Synonyms |
EG626942 |
MMRRC Submission |
039124-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R1022 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
17924203-17954429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17948400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 549
(I549F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169805]
[ENSMUST00000231659]
[ENSMUST00000232078]
[ENSMUST00000232113]
|
AlphaFold |
E9PXJ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169805
AA Change: I549F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126650 Gene: ENSMUSG00000092120 AA Change: I549F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
77 |
471 |
1.8e-43 |
PFAM |
Pfam:NCD3G
|
514 |
567 |
3e-22 |
PFAM |
Pfam:7tm_3
|
600 |
835 |
9.8e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231659
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232078
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232113
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
|
Other mutations in Vmn2r90 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Vmn2r90
|
APN |
17 |
17,953,758 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01330:Vmn2r90
|
APN |
17 |
17,953,542 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01989:Vmn2r90
|
APN |
17 |
17,933,494 (GRCm39) |
nonsense |
probably null |
|
IGL02080:Vmn2r90
|
APN |
17 |
17,933,120 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02112:Vmn2r90
|
APN |
17 |
17,932,465 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02123:Vmn2r90
|
APN |
17 |
17,953,744 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02749:Vmn2r90
|
APN |
17 |
17,947,122 (GRCm39) |
makesense |
probably null |
|
IGL03114:Vmn2r90
|
APN |
17 |
17,953,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Vmn2r90
|
UTSW |
17 |
17,932,511 (GRCm39) |
missense |
probably benign |
0.00 |
R0131:Vmn2r90
|
UTSW |
17 |
17,932,511 (GRCm39) |
missense |
probably benign |
0.00 |
R0132:Vmn2r90
|
UTSW |
17 |
17,932,511 (GRCm39) |
missense |
probably benign |
0.00 |
R0184:Vmn2r90
|
UTSW |
17 |
17,947,139 (GRCm39) |
nonsense |
probably null |
|
R0379:Vmn2r90
|
UTSW |
17 |
17,948,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1024:Vmn2r90
|
UTSW |
17 |
17,948,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1897:Vmn2r90
|
UTSW |
17 |
17,953,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Vmn2r90
|
UTSW |
17 |
17,933,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R2472:Vmn2r90
|
UTSW |
17 |
17,948,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Vmn2r90
|
UTSW |
17 |
17,954,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R2679:Vmn2r90
|
UTSW |
17 |
17,933,131 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3409:Vmn2r90
|
UTSW |
17 |
17,953,638 (GRCm39) |
missense |
probably benign |
0.00 |
R4693:Vmn2r90
|
UTSW |
17 |
17,953,956 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4797:Vmn2r90
|
UTSW |
17 |
17,932,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R5258:Vmn2r90
|
UTSW |
17 |
17,933,114 (GRCm39) |
missense |
probably benign |
0.12 |
R5358:Vmn2r90
|
UTSW |
17 |
17,924,412 (GRCm39) |
critical splice donor site |
probably null |
|
R5445:Vmn2r90
|
UTSW |
17 |
17,954,386 (GRCm39) |
missense |
probably benign |
0.04 |
R5446:Vmn2r90
|
UTSW |
17 |
17,932,464 (GRCm39) |
missense |
probably damaging |
0.99 |
R5567:Vmn2r90
|
UTSW |
17 |
17,932,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R5680:Vmn2r90
|
UTSW |
17 |
17,947,034 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5686:Vmn2r90
|
UTSW |
17 |
17,933,712 (GRCm39) |
missense |
probably benign |
0.02 |
R5751:Vmn2r90
|
UTSW |
17 |
17,954,128 (GRCm39) |
missense |
probably damaging |
0.96 |
R6156:Vmn2r90
|
UTSW |
17 |
17,953,606 (GRCm39) |
missense |
probably benign |
0.01 |
R6185:Vmn2r90
|
UTSW |
17 |
17,953,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R6450:Vmn2r90
|
UTSW |
17 |
17,953,498 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6707:Vmn2r90
|
UTSW |
17 |
17,948,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R6802:Vmn2r90
|
UTSW |
17 |
17,932,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R6913:Vmn2r90
|
UTSW |
17 |
17,924,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R7070:Vmn2r90
|
UTSW |
17 |
17,924,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R7237:Vmn2r90
|
UTSW |
17 |
17,924,249 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7503:Vmn2r90
|
UTSW |
17 |
17,933,510 (GRCm39) |
missense |
not run |
|
R7698:Vmn2r90
|
UTSW |
17 |
17,953,596 (GRCm39) |
missense |
probably benign |
|
R7943:Vmn2r90
|
UTSW |
17 |
17,932,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R8072:Vmn2r90
|
UTSW |
17 |
17,947,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R8128:Vmn2r90
|
UTSW |
17 |
17,954,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R8295:Vmn2r90
|
UTSW |
17 |
17,948,358 (GRCm39) |
missense |
probably benign |
0.03 |
R8345:Vmn2r90
|
UTSW |
17 |
17,933,127 (GRCm39) |
nonsense |
probably null |
|
R8682:Vmn2r90
|
UTSW |
17 |
17,932,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8716:Vmn2r90
|
UTSW |
17 |
17,924,343 (GRCm39) |
missense |
probably damaging |
0.98 |
R9041:Vmn2r90
|
UTSW |
17 |
17,954,286 (GRCm39) |
missense |
probably benign |
0.00 |
R9412:Vmn2r90
|
UTSW |
17 |
17,954,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R9607:Vmn2r90
|
UTSW |
17 |
17,953,638 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9705:Vmn2r90
|
UTSW |
17 |
17,933,039 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1088:Vmn2r90
|
UTSW |
17 |
17,953,879 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r90
|
UTSW |
17 |
17,933,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACATTTGAGCTGAGTAGCCCAAAATCT -3'
(R):5'- TTGAAATGGACTGCTAACTTTTGGCAAG -3'
Sequencing Primer
(F):5'- ACCATATCCTTATTGTAAGTGTAAGC -3'
(R):5'- AACTTTTGGCAAGGTTAGGCAC -3'
|
Posted On |
2014-01-09 |