Incidental Mutation 'R1071:Vmn1r30'
| ID |
86192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r30
|
| Ensembl Gene |
ENSMUSG00000095670 |
| Gene Name |
vomeronasal 1 receptor 30 |
| Synonyms |
V1rc22, V1rc9 |
| MMRRC Submission |
039157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1071 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
58411833-58420609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58412813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 6
(N6K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078890]
[ENSMUST00000226334]
[ENSMUST00000227466]
[ENSMUST00000228577]
[ENSMUST00000228635]
|
| AlphaFold |
Q8R2D2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078890
AA Change: N6K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087336
Gene: ENSMUSG00000095670
AA Change: N6K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
29 |
293 |
4.8e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203463
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226334
AA Change: N6K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227466
AA Change: N6K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228577
AA Change: N6K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228635
AA Change: N6K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
T |
C |
10: 80,147,336 (GRCm39) |
S768P |
probably damaging |
Het |
| Bub1b |
CAT |
C |
2: 118,462,928 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,247,910 (GRCm39) |
H1486Q |
probably benign |
Het |
| Eml4 |
G |
T |
17: 83,785,468 (GRCm39) |
E878* |
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,167,577 (GRCm39) |
D457G |
possibly damaging |
Het |
| Prepl |
T |
C |
17: 85,377,940 (GRCm39) |
Y480C |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,044,011 (GRCm39) |
Y708N |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,367,454 (GRCm39) |
V399A |
possibly damaging |
Het |
| Vmn2r3 |
G |
A |
3: 64,182,697 (GRCm39) |
T334I |
possibly damaging |
Het |
| Vtn |
C |
A |
11: 78,392,602 (GRCm39) |
N393K |
probably benign |
Het |
| Zfp786 |
T |
C |
6: 47,798,239 (GRCm39) |
D233G |
possibly damaging |
Het |
| Zmym2 |
A |
G |
14: 57,197,278 (GRCm39) |
T1349A |
possibly 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 |
|
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 |
|
|
R3762:Vmn1r30
|
UTSW |
6 |
58,412,278 (GRCm39) |
missense |
probably benign |
0.20 |
|
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'- AGTATGACTGCAAGCCAATTATCCCC -3'
(R):5'- TCAGGTGCATGAGACAAAGTGTTCAG -3'
Sequencing Primer
(F):5'- AGCCAATTATCCCCTCCCG -3'
(R):5'- CTGAAATACACGTCCAATATGCTC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation