Incidental Mutation 'R6741:Vmn1r49'
| ID |
530445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r49
|
| Ensembl Gene |
ENSMUSG00000095932 |
| Gene Name |
vomeronasal 1, receptor 49 |
| Synonyms |
V1rb2, VRi2, V1r5 |
| MMRRC Submission |
044858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90049068-90050000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90049195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 269
(V269A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071865]
[ENSMUST00000203791]
[ENSMUST00000226368]
|
| AlphaFold |
Q9WUF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071865
AA Change: V269A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000071762
Gene: ENSMUSG00000095932
AA Change: V269A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
38 |
302 |
5e-165 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203791
AA Change: V269A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000145107
Gene: ENSMUSG00000095932
AA Change: V269A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
38 |
302 |
5e-165 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226368
AA Change: V269A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a non-functional knock-in allele display abnormal patterns of axonal projections in the accessory olfactory bulb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
| Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
| Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
| Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
C |
19: 36,589,759 (GRCm39) |
I628T |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,722,293 (GRCm39) |
Q246L |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
| Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,995,182 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
| Or5ac25 |
A |
G |
16: 59,181,918 (GRCm39) |
L221P |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
| Plekho2 |
C |
A |
9: 65,471,197 (GRCm39) |
R84L |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,631,771 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
| Sesn3 |
T |
C |
9: 14,231,636 (GRCm39) |
I189T |
possibly damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
possibly damaging |
Het |
|
| Other mutations in Vmn1r49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Vmn1r49
|
APN |
6 |
90,049,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03230:Vmn1r49
|
APN |
6 |
90,049,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03308:Vmn1r49
|
APN |
6 |
90,049,341 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0517:Vmn1r49
|
UTSW |
6 |
90,049,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0638:Vmn1r49
|
UTSW |
6 |
90,049,648 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1498:Vmn1r49
|
UTSW |
6 |
90,049,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Vmn1r49
|
UTSW |
6 |
90,049,623 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1668:Vmn1r49
|
UTSW |
6 |
90,049,764 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1816:Vmn1r49
|
UTSW |
6 |
90,049,785 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2071:Vmn1r49
|
UTSW |
6 |
90,049,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2155:Vmn1r49
|
UTSW |
6 |
90,049,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2274:Vmn1r49
|
UTSW |
6 |
90,049,126 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4222:Vmn1r49
|
UTSW |
6 |
90,049,228 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4614:Vmn1r49
|
UTSW |
6 |
90,049,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4797:Vmn1r49
|
UTSW |
6 |
90,049,612 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4978:Vmn1r49
|
UTSW |
6 |
90,049,872 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5227:Vmn1r49
|
UTSW |
6 |
90,049,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5959:Vmn1r49
|
UTSW |
6 |
90,049,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Vmn1r49
|
UTSW |
6 |
90,049,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7173:Vmn1r49
|
UTSW |
6 |
90,049,250 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7457:Vmn1r49
|
UTSW |
6 |
90,049,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7573:Vmn1r49
|
UTSW |
6 |
90,049,843 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8360:Vmn1r49
|
UTSW |
6 |
90,049,991 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8399:Vmn1r49
|
UTSW |
6 |
90,049,689 (GRCm39) |
nonsense |
probably null |
|
|
R9560:Vmn1r49
|
UTSW |
6 |
90,049,382 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCCATATGTCATGATCCATAGC -3'
(R):5'- TGGGTACATGGTAGCTCTCC -3'
Sequencing Primer
(F):5'- ATGTCATGATCCATAGCACTACTGC -3'
(R):5'- CTCCTATGGAGGCACAAGAAGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation