Incidental Mutation 'R4545:Or1e30'
| ID |
333731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e30
|
| Ensembl Gene |
ENSMUSG00000069818 |
| Gene Name |
olfactory receptor family 1 subfamily E member 30 |
| Synonyms |
Olfr390, MOR135-26, GA_x6K02T2P1NL-3938806-3939741 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73677766-73678701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73677992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 76
(V76A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092919]
[ENSMUST00000120081]
[ENSMUST00000206815]
[ENSMUST00000215161]
|
| AlphaFold |
Q8VEZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092919
AA Change: V76A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: V76A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.1e-61 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
7.2e-9 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.8e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120081
AA Change: V76A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: V76A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
7.2e-9 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.4e-36 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
5.6e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206815
AA Change: V76A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215161
AA Change: V76A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.3386 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
| Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
| Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
| Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
| Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
possibly damaging |
Het |
|
| Other mutations in Or1e30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Or1e30
|
APN |
11 |
73,678,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Or1e30
|
APN |
11 |
73,678,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01630:Or1e30
|
APN |
11 |
73,678,687 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01866:Or1e30
|
APN |
11 |
73,678,654 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02577:Or1e30
|
APN |
11 |
73,677,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02617:Or1e30
|
APN |
11 |
73,678,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03017:Or1e30
|
APN |
11 |
73,678,344 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03215:Or1e30
|
APN |
11 |
73,678,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Or1e30
|
APN |
11 |
73,678,309 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03098:Or1e30
|
UTSW |
11 |
73,678,529 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0115:Or1e30
|
UTSW |
11 |
73,678,141 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R0217:Or1e30
|
UTSW |
11 |
73,678,214 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1971:Or1e30
|
UTSW |
11 |
73,678,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Or1e30
|
UTSW |
11 |
73,678,264 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2058:Or1e30
|
UTSW |
11 |
73,678,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3051:Or1e30
|
UTSW |
11 |
73,678,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3622:Or1e30
|
UTSW |
11 |
73,678,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3913:Or1e30
|
UTSW |
11 |
73,678,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Or1e30
|
UTSW |
11 |
73,678,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Or1e30
|
UTSW |
11 |
73,677,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5635:Or1e30
|
UTSW |
11 |
73,678,460 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6020:Or1e30
|
UTSW |
11 |
73,678,378 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6151:Or1e30
|
UTSW |
11 |
73,678,521 (GRCm39) |
nonsense |
probably null |
|
|
R6885:Or1e30
|
UTSW |
11 |
73,677,926 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6984:Or1e30
|
UTSW |
11 |
73,678,603 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7057:Or1e30
|
UTSW |
11 |
73,677,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7120:Or1e30
|
UTSW |
11 |
73,677,940 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7704:Or1e30
|
UTSW |
11 |
73,678,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Or1e30
|
UTSW |
11 |
73,677,766 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R9100:Or1e30
|
UTSW |
11 |
73,678,687 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9258:Or1e30
|
UTSW |
11 |
73,678,281 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9384:Or1e30
|
UTSW |
11 |
73,677,796 (GRCm39) |
missense |
probably benign |
|
|
R9421:Or1e30
|
UTSW |
11 |
73,677,927 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9450:Or1e30
|
UTSW |
11 |
73,678,101 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9698:Or1e30
|
UTSW |
11 |
73,678,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCAGACTATCATCTCTCAGTTC -3'
(R):5'- TTGGGGCTCATGATACTGGC -3'
Sequencing Primer
(F):5'- AGTTCTTACTCCTGGGCCTG -3'
(R):5'- GGCTCATGATACTGGCATAATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation