Incidental Mutation 'R3744:Vmn1r30'
| ID |
271120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r30
|
| Ensembl Gene |
ENSMUSG00000095670 |
| Gene Name |
vomeronasal 1 receptor 30 |
| Synonyms |
V1rc22, V1rc9 |
| MMRRC Submission |
040730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R3744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
58411833-58420609 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 58412804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 9
(Y9*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078890]
[ENSMUST00000226334]
[ENSMUST00000227466]
[ENSMUST00000228577]
[ENSMUST00000228635]
|
| AlphaFold |
Q8R2D2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078890
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000087336
Gene: ENSMUSG00000095670
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
29 |
293 |
4.8e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203463
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226334
AA Change: Y9*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227466
AA Change: Y9*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228577
AA Change: Y9*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228635
AA Change: Y9*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,330,190 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,520,423 (GRCm39) |
*349W |
probably null |
Het |
| Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,317,531 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
T |
C |
3: 108,016,714 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
| Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
| Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
| Pop5 |
T |
C |
5: 115,378,567 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
| Tpbg |
A |
G |
9: 85,727,215 (GRCm39) |
R395G |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
| Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
| Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
| Zfp36 |
A |
G |
7: 28,077,201 (GRCm39) |
S236P |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
probably benign |
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 |
|
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'- ACTCAAGTATGACTGCAAGCC -3'
(R):5'- AGGTGCATGAGACAAAGTGTTC -3'
Sequencing Primer
(F):5'- GTATGACTGCAAGCCAATTATCC -3'
(R):5'- CACGTCCAATATGCTCTTAA -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation