Incidental Mutation 'R2292:Or10a49'
| ID |
245039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10a49
|
| Ensembl Gene |
ENSMUSG00000066240 |
| Gene Name |
olfactory receptor family 10 subfamily A member 49 |
| Synonyms |
MOR268-4, Olfr517, GA_x6K02T2PBJ9-11199311-11198367 |
| MMRRC Submission |
040291-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R2292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108467415-108468359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108468223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 46
(M46K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084753]
[ENSMUST00000216500]
|
| AlphaFold |
Q7TRU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084753
AA Change: M46K
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: M46K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
7.4e-60 |
PFAM |
|
Pfam:7tm_1
|
41 |
299 |
4.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207346
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216500
AA Change: M46K
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
| A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
| Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
| Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
| Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
| Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
| Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
| Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
| Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
| Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
| Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
| Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
| Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
| Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
| Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably damaging |
Het |
|
| Other mutations in Or10a49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Or10a49
|
APN |
7 |
108,467,482 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01866:Or10a49
|
APN |
7 |
108,468,006 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02131:Or10a49
|
APN |
7 |
108,467,415 (GRCm39) |
makesense |
probably null |
|
|
IGL02456:Or10a49
|
APN |
7 |
108,468,257 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02604:Or10a49
|
APN |
7 |
108,467,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Or10a49
|
APN |
7 |
108,468,062 (GRCm39) |
nonsense |
probably null |
|
|
R0084:Or10a49
|
UTSW |
7 |
108,468,007 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0504:Or10a49
|
UTSW |
7 |
108,468,057 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0748:Or10a49
|
UTSW |
7 |
108,468,357 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1428:Or10a49
|
UTSW |
7 |
108,468,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1907:Or10a49
|
UTSW |
7 |
108,467,705 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3874:Or10a49
|
UTSW |
7 |
108,468,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4091:Or10a49
|
UTSW |
7 |
108,467,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Or10a49
|
UTSW |
7 |
108,467,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Or10a49
|
UTSW |
7 |
108,467,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5440:Or10a49
|
UTSW |
7 |
108,467,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Or10a49
|
UTSW |
7 |
108,467,895 (GRCm39) |
missense |
probably benign |
|
|
R6723:Or10a49
|
UTSW |
7 |
108,467,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Or10a49
|
UTSW |
7 |
108,467,780 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6892:Or10a49
|
UTSW |
7 |
108,467,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Or10a49
|
UTSW |
7 |
108,467,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8160:Or10a49
|
UTSW |
7 |
108,467,995 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8213:Or10a49
|
UTSW |
7 |
108,467,726 (GRCm39) |
missense |
probably benign |
|
|
R8330:Or10a49
|
UTSW |
7 |
108,468,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Or10a49
|
UTSW |
7 |
108,467,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Or10a49
|
UTSW |
7 |
108,467,840 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9585:Or10a49
|
UTSW |
7 |
108,467,552 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9664:Or10a49
|
UTSW |
7 |
108,467,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9778:Or10a49
|
UTSW |
7 |
108,467,698 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1186:Or10a49
|
UTSW |
7 |
108,468,143 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGATCATAAGCCATTGCCCC -3'
(R):5'- TTCCTAAGAATGACCCAGGGC -3'
Sequencing Primer
(F):5'- GCCATTGCCCCCAAGAG -3'
(R):5'- CTCCACTACAGCAATGAGGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation