Incidental Mutation 'R0575:Or5b107'
ID |
56206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or5b107
|
Ensembl Gene |
ENSMUSG00000045883 |
Gene Name |
olfactory receptor family 5 subfamily B member 107 |
Synonyms |
GA_x6K02T2RE5P-3491834-3492772, Olfr1461, MOR202-35 |
MMRRC Submission |
038765-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R0575 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
13142380-13143318 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 13142751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 124
(Y124*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146723
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053772]
[ENSMUST00000207113]
[ENSMUST00000208489]
|
AlphaFold |
Q8VEV7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053772
AA Change: Y124*
|
SMART Domains |
Protein: ENSMUSP00000053269 Gene: ENSMUSG00000045883 AA Change: Y124*
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
309 |
6e-55 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
8e-6 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
2e-18 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207113
AA Change: Y124*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208489
AA Change: Y124*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (30/30) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
C |
T |
14: 54,828,709 (GRCm39) |
S264N |
possibly damaging |
Het |
Acsm1 |
G |
A |
7: 119,258,424 (GRCm39) |
|
probably null |
Het |
Adsl |
C |
T |
15: 80,847,886 (GRCm39) |
A93V |
probably damaging |
Het |
Agbl5 |
A |
T |
5: 31,051,798 (GRCm39) |
S539C |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,504,905 (GRCm39) |
T285S |
probably benign |
Het |
Anapc11 |
A |
G |
11: 120,490,192 (GRCm39) |
D36G |
probably benign |
Het |
Ankrd44 |
G |
A |
1: 54,801,469 (GRCm39) |
A286V |
probably damaging |
Het |
Atf7ip2 |
G |
T |
16: 10,055,075 (GRCm39) |
G281C |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,996,232 (GRCm39) |
K4475E |
probably damaging |
Het |
Ccbe1 |
T |
A |
18: 66,227,066 (GRCm39) |
|
probably benign |
Het |
Cyp26b1 |
A |
G |
6: 84,552,288 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
T |
C |
3: 35,951,934 (GRCm39) |
|
probably benign |
Het |
Dtwd2 |
C |
A |
18: 49,831,539 (GRCm39) |
C156F |
probably damaging |
Het |
Efcab6 |
T |
G |
15: 83,851,901 (GRCm39) |
I326L |
probably benign |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
F5 |
C |
A |
1: 164,003,813 (GRCm39) |
Q203K |
probably damaging |
Het |
Frs3 |
A |
G |
17: 48,014,648 (GRCm39) |
H447R |
possibly damaging |
Het |
Gmds |
T |
G |
13: 32,124,566 (GRCm39) |
Q264P |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,739,171 (GRCm39) |
D2503E |
probably benign |
Het |
Lgi4 |
G |
A |
7: 30,759,518 (GRCm39) |
G25R |
probably benign |
Het |
Or2y1b |
G |
A |
11: 49,208,880 (GRCm39) |
C169Y |
probably damaging |
Het |
Pcdh20 |
A |
G |
14: 88,705,048 (GRCm39) |
S751P |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,614,010 (GRCm39) |
T652A |
probably benign |
Het |
Pom121l2 |
T |
G |
13: 22,168,338 (GRCm39) |
F870V |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,787,774 (GRCm39) |
D160G |
possibly damaging |
Het |
Spa17 |
T |
C |
9: 37,514,689 (GRCm39) |
K133E |
probably damaging |
Het |
Strbp |
T |
A |
2: 37,530,885 (GRCm39) |
D123V |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,936,180 (GRCm39) |
T3586A |
possibly damaging |
Het |
Zfp518a |
T |
A |
19: 40,900,759 (GRCm39) |
H229Q |
probably damaging |
Het |
|
Other mutations in Or5b107 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01088:Or5b107
|
APN |
19 |
13,142,735 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01370:Or5b107
|
APN |
19 |
13,142,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01936:Or5b107
|
APN |
19 |
13,142,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R0098:Or5b107
|
UTSW |
19 |
13,143,026 (GRCm39) |
missense |
probably benign |
0.12 |
R0270:Or5b107
|
UTSW |
19 |
13,143,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R0627:Or5b107
|
UTSW |
19 |
13,142,614 (GRCm39) |
missense |
probably benign |
0.43 |
R1779:Or5b107
|
UTSW |
19 |
13,142,404 (GRCm39) |
missense |
probably benign |
0.00 |
R1956:Or5b107
|
UTSW |
19 |
13,142,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R2446:Or5b107
|
UTSW |
19 |
13,142,811 (GRCm39) |
missense |
probably benign |
0.00 |
R3622:Or5b107
|
UTSW |
19 |
13,143,020 (GRCm39) |
missense |
probably benign |
0.06 |
R4485:Or5b107
|
UTSW |
19 |
13,142,855 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4605:Or5b107
|
UTSW |
19 |
13,142,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R4757:Or5b107
|
UTSW |
19 |
13,143,277 (GRCm39) |
missense |
probably benign |
0.01 |
R4816:Or5b107
|
UTSW |
19 |
13,142,488 (GRCm39) |
missense |
probably benign |
0.10 |
R5038:Or5b107
|
UTSW |
19 |
13,142,955 (GRCm39) |
missense |
probably benign |
0.39 |
R7026:Or5b107
|
UTSW |
19 |
13,142,779 (GRCm39) |
missense |
probably benign |
0.08 |
R8225:Or5b107
|
UTSW |
19 |
13,142,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R8232:Or5b107
|
UTSW |
19 |
13,142,683 (GRCm39) |
missense |
probably benign |
0.28 |
R9095:Or5b107
|
UTSW |
19 |
13,143,310 (GRCm39) |
missense |
probably benign |
0.01 |
R9127:Or5b107
|
UTSW |
19 |
13,142,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R9697:Or5b107
|
UTSW |
19 |
13,142,888 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9784:Or5b107
|
UTSW |
19 |
13,142,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATCATCACCCTGGTAGGGAACC -3'
(R):5'- CACAGGTGGAAAGAGCCTTCTGAAC -3'
Sequencing Primer
(F):5'- AACCTGGGGATGATCCTGC -3'
(R):5'- GGAAAGAGCCTTCTGAACTCCTG -3'
|
Posted On |
2013-07-11 |