Incidental Mutation 'R3762:Vmn1r30'
| ID |
270555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r30
|
| Ensembl Gene |
ENSMUSG00000095670 |
| Gene Name |
vomeronasal 1 receptor 30 |
| Synonyms |
V1rc22, V1rc9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
58411833-58420609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 58412278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 185
(V185L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078890]
[ENSMUST00000226334]
[ENSMUST00000227466]
[ENSMUST00000228577]
[ENSMUST00000228635]
|
| AlphaFold |
Q8R2D2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078890
AA Change: V185L
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087336
Gene: ENSMUSG00000095670
AA Change: V185L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
29 |
293 |
4.8e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226334
AA Change: V185L
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227466
AA Change: V185L
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228577
AA Change: V185L
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228635
AA Change: V185L
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
T |
7: 16,299,000 (GRCm39) |
S22T |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,845,351 (GRCm39) |
I718T |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,232,890 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Defa41 |
C |
T |
8: 21,691,753 (GRCm39) |
S45F |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,995,352 (GRCm39) |
M999L |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,676,672 (GRCm39) |
E374G |
probably damaging |
Het |
| Gatad2a |
T |
C |
8: 70,368,930 (GRCm39) |
|
probably null |
Het |
| Gm826 |
C |
A |
2: 160,155,423 (GRCm39) |
|
probably benign |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,216 (GRCm39) |
H117L |
probably damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,830 (GRCm39) |
V137D |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,186,183 (GRCm39) |
Y828C |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,341 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,212 (GRCm39) |
T1507S |
possibly damaging |
Het |
| Pak6 |
A |
T |
2: 118,526,958 (GRCm39) |
Q651L |
probably damaging |
Het |
| Plscr2 |
T |
A |
9: 92,173,133 (GRCm39) |
V90D |
probably damaging |
Het |
| Rbbp4 |
G |
A |
4: 129,228,344 (GRCm39) |
T2I |
probably damaging |
Het |
| Rnf121 |
G |
A |
7: 101,673,244 (GRCm39) |
T223M |
probably damaging |
Het |
| Rsph6a |
A |
G |
7: 18,789,256 (GRCm39) |
K196R |
probably damaging |
Het |
| Tex47 |
A |
T |
5: 7,355,529 (GRCm39) |
I237L |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,411 (GRCm39) |
E728D |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,033 (GRCm39) |
Y320N |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,724,902 (GRCm39) |
F188Y |
probably damaging |
Het |
|
| Other mutations in Vmn1r30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01657:Vmn1r30
|
APN |
6 |
58,412,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02432:Vmn1r30
|
APN |
6 |
58,412,655 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02627:Vmn1r30
|
APN |
6 |
58,412,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02870:Vmn1r30
|
APN |
6 |
58,412,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0360:Vmn1r30
|
UTSW |
6 |
58,412,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1071:Vmn1r30
|
UTSW |
6 |
58,412,813 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1335:Vmn1r30
|
UTSW |
6 |
58,412,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Vmn1r30
|
UTSW |
6 |
58,412,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1888:Vmn1r30
|
UTSW |
6 |
58,412,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2483:Vmn1r30
|
UTSW |
6 |
58,412,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3622:Vmn1r30
|
UTSW |
6 |
58,412,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3623:Vmn1r30
|
UTSW |
6 |
58,412,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3624:Vmn1r30
|
UTSW |
6 |
58,412,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3744:Vmn1r30
|
UTSW |
6 |
58,412,804 (GRCm39) |
nonsense |
probably null |
|
|
R4483:Vmn1r30
|
UTSW |
6 |
58,412,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4484:Vmn1r30
|
UTSW |
6 |
58,412,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Vmn1r30
|
UTSW |
6 |
58,412,368 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5408:Vmn1r30
|
UTSW |
6 |
58,412,029 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5461:Vmn1r30
|
UTSW |
6 |
58,412,759 (GRCm39) |
nonsense |
probably null |
|
|
R5888:Vmn1r30
|
UTSW |
6 |
58,412,550 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7068:Vmn1r30
|
UTSW |
6 |
58,411,995 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7490:Vmn1r30
|
UTSW |
6 |
58,412,214 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7680:Vmn1r30
|
UTSW |
6 |
58,412,284 (GRCm39) |
nonsense |
probably null |
|
|
R7751:Vmn1r30
|
UTSW |
6 |
58,412,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8516:Vmn1r30
|
UTSW |
6 |
58,412,109 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8728:Vmn1r30
|
UTSW |
6 |
58,412,460 (GRCm39) |
missense |
probably benign |
|
|
R9351:Vmn1r30
|
UTSW |
6 |
58,412,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGTCCACCCAGTACATGAC -3'
(R):5'- AGTCCCCATACCTCACTGTTGG -3'
Sequencing Primer
(F):5'- TCCACCCAGTACATGACCACAAAG -3'
(R):5'- CCTCACTGTTGGCAAAATTTAAGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation