Incidental Mutation 'R5445:Vmn2r90'
ID |
427429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r90
|
Ensembl Gene |
ENSMUSG00000092120 |
Gene Name |
vomeronasal 2, receptor 90 |
Synonyms |
EG626942 |
MMRRC Submission |
043010-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R5445 (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 17954386 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 850
(H850L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169805]
[ENSMUST00000231659]
[ENSMUST00000232078]
[ENSMUST00000232113]
|
AlphaFold |
E9PXJ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169805
AA Change: H850L
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000126650 Gene: ENSMUSG00000092120 AA Change: H850L
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 |
noncoding transcript
Transcript: ENSMUST00000231940
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232078
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232113
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,978,557 (GRCm39) |
D300E |
probably damaging |
Het |
Apbb1ip |
T |
C |
2: 22,725,960 (GRCm39) |
V244A |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,159,678 (GRCm39) |
S232P |
probably benign |
Het |
Atf7ip |
G |
A |
6: 136,564,255 (GRCm39) |
V833M |
probably damaging |
Het |
Casp7 |
A |
G |
19: 56,421,770 (GRCm39) |
|
probably null |
Het |
Ccdc9b |
T |
C |
2: 118,590,067 (GRCm39) |
D259G |
probably damaging |
Het |
Celsr2 |
T |
A |
3: 108,299,974 (GRCm39) |
E2911D |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,770,469 (GRCm39) |
D1807G |
probably benign |
Het |
Cfap251 |
C |
T |
5: 123,425,240 (GRCm39) |
T294M |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,557,660 (GRCm39) |
T753A |
possibly damaging |
Het |
Clasp2 |
A |
G |
9: 113,733,014 (GRCm39) |
D971G |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,865,727 (GRCm39) |
T772A |
possibly damaging |
Het |
Cntn1 |
A |
T |
15: 92,192,958 (GRCm39) |
N687Y |
probably damaging |
Het |
Col6a3 |
G |
A |
1: 90,709,761 (GRCm39) |
R1812* |
probably null |
Het |
Dsc2 |
T |
C |
18: 20,168,360 (GRCm39) |
I700V |
possibly damaging |
Het |
Flt3 |
G |
A |
5: 147,291,905 (GRCm39) |
Q540* |
probably null |
Het |
Fmo4 |
T |
A |
1: 162,632,842 (GRCm39) |
I170F |
probably benign |
Het |
Fra10ac1 |
T |
A |
19: 38,207,910 (GRCm39) |
D72V |
possibly damaging |
Het |
Garin2 |
G |
A |
12: 78,761,890 (GRCm39) |
E185K |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gm2381 |
T |
G |
7: 42,469,425 (GRCm39) |
H233P |
probably damaging |
Het |
Gm5148 |
T |
A |
3: 37,768,995 (GRCm39) |
Q75L |
probably damaging |
Het |
Gm8369 |
T |
C |
19: 11,482,170 (GRCm39) |
V27A |
possibly damaging |
Het |
Gpr157 |
T |
C |
4: 150,186,825 (GRCm39) |
S318P |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,404,337 (GRCm39) |
V405M |
probably benign |
Het |
Hemgn |
T |
C |
4: 46,400,738 (GRCm39) |
R41G |
probably benign |
Het |
Hhipl1 |
T |
A |
12: 108,294,467 (GRCm39) |
L791Q |
probably damaging |
Het |
Hjurp |
T |
G |
1: 88,194,038 (GRCm39) |
K290T |
probably benign |
Het |
Ifi207 |
T |
C |
1: 173,555,363 (GRCm39) |
E773G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,914,685 (GRCm39) |
Y697H |
probably damaging |
Het |
Lonrf2 |
T |
C |
1: 38,846,234 (GRCm39) |
T313A |
probably benign |
Het |
Lrba |
G |
T |
3: 86,275,902 (GRCm39) |
V1757L |
probably benign |
Het |
Lrrc24 |
T |
C |
15: 76,600,306 (GRCm39) |
T278A |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,856,428 (GRCm39) |
I679V |
probably null |
Het |
Mapk4 |
G |
T |
18: 74,064,073 (GRCm39) |
T383K |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mia3 |
A |
G |
1: 183,117,471 (GRCm39) |
V208A |
probably benign |
Het |
Myo15a |
C |
A |
11: 60,411,603 (GRCm39) |
C3234* |
probably null |
Het |
Nlrp1b |
G |
T |
11: 71,108,701 (GRCm39) |
Q267K |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,881,922 (GRCm39) |
K37E |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,962,681 (GRCm39) |
M755T |
probably damaging |
Het |
Or10u4 |
T |
A |
10: 129,802,158 (GRCm39) |
H137L |
probably benign |
Het |
Or52ac1 |
A |
G |
7: 104,246,028 (GRCm39) |
F120S |
probably damaging |
Het |
Or5p58 |
A |
G |
7: 107,693,949 (GRCm39) |
V276A |
possibly damaging |
Het |
Pdlim5 |
C |
T |
3: 142,058,495 (GRCm39) |
R83K |
probably null |
Het |
Plekha5 |
A |
T |
6: 140,498,459 (GRCm39) |
R173* |
probably null |
Het |
Pramel25 |
T |
A |
4: 143,521,707 (GRCm39) |
V441E |
possibly damaging |
Het |
Rbms3 |
T |
A |
9: 117,080,853 (GRCm39) |
D6V |
possibly damaging |
Het |
Rhoq |
A |
T |
17: 87,271,755 (GRCm39) |
Y57F |
probably benign |
Het |
Rrm1 |
A |
T |
7: 102,100,230 (GRCm39) |
T204S |
possibly damaging |
Het |
Slf1 |
A |
T |
13: 77,239,323 (GRCm39) |
I447N |
probably benign |
Het |
Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
Spdye4c |
C |
T |
2: 128,438,484 (GRCm39) |
Q281* |
probably null |
Het |
Tert |
T |
A |
13: 73,792,403 (GRCm39) |
M890K |
probably benign |
Het |
Tln1 |
C |
A |
4: 43,543,905 (GRCm39) |
R1198L |
probably benign |
Het |
Tmco4 |
A |
G |
4: 138,748,178 (GRCm39) |
M253V |
probably damaging |
Het |
Usp19 |
G |
T |
9: 108,375,119 (GRCm39) |
V782F |
possibly damaging |
Het |
Usp33 |
T |
A |
3: 152,080,260 (GRCm39) |
S464T |
probably damaging |
Het |
Usp47 |
A |
T |
7: 111,673,928 (GRCm39) |
Y397F |
probably damaging |
Het |
Vmn1r12 |
A |
G |
6: 57,136,466 (GRCm39) |
T144A |
probably benign |
Het |
Zfhx3 |
A |
T |
8: 109,682,842 (GRCm39) |
Q3427L |
unknown |
Het |
Zfp236 |
G |
T |
18: 82,700,281 (GRCm39) |
Q63K |
probably benign |
Het |
Zfp7 |
T |
A |
15: 76,775,054 (GRCm39) |
C365* |
probably null |
Het |
Zfp786 |
T |
C |
6: 47,796,619 (GRCm39) |
E773G |
probably damaging |
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 |
R1022:Vmn2r90
|
UTSW |
17 |
17,948,400 (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 |
|
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'- CTGTGTCTGGATCACCTTCC -3'
(R):5'- TCCCACTGGAAAATGTTTATCTCTG -3'
Sequencing Primer
(F):5'- CTCCCTGTCTACCATAGCACAAAAG -3'
(R):5'- TGATAACAGCCAGTTGTGCC -3'
|
Posted On |
2016-09-01 |