Incidental Mutation 'IGL03339:Or5b122'
| ID |
417132 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5b122
|
| Ensembl Gene |
ENSMUSG00000096289 |
| Gene Name |
olfactory receptor family 5 subfamily B member 122 |
| Synonyms |
Olfr1484, MOR202-37, GA_x6K02T2RE5P-3917859-3918806 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL03339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
13562670-13563617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 13563439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 257
(M257R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074180]
[ENSMUST00000207093]
[ENSMUST00000208104]
[ENSMUST00000215567]
[ENSMUST00000216014]
[ENSMUST00000216369]
[ENSMUST00000217451]
|
| AlphaFold |
Q8VEU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074180
AA Change: M257R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073811
Gene: ENSMUSG00000096289
AA Change: M257R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
7.4e-55 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
304 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
3.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207093
AA Change: M257R
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208104
AA Change: M214R
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208420
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215567
AA Change: M257R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216014
AA Change: M257R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216369
AA Change: M214R
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217451
AA Change: M257R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
| A4gnt |
T |
C |
9: 99,502,601 (GRCm39) |
S254P |
probably damaging |
Het |
| Actn4 |
A |
G |
7: 28,601,407 (GRCm39) |
L447P |
probably damaging |
Het |
| Agbl2 |
C |
A |
2: 90,627,907 (GRCm39) |
S237R |
probably damaging |
Het |
| Apc |
G |
A |
18: 34,431,527 (GRCm39) |
D309N |
probably damaging |
Het |
| Arhgef3 |
A |
G |
14: 27,123,814 (GRCm39) |
M492V |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,121,442 (GRCm39) |
M1035K |
probably null |
Het |
| Cfap69 |
T |
A |
5: 5,636,436 (GRCm39) |
|
probably benign |
Het |
| Ctf1 |
A |
G |
7: 127,313,166 (GRCm39) |
N24S |
probably benign |
Het |
| Cx3cr1 |
T |
A |
9: 119,880,503 (GRCm39) |
K300* |
probably null |
Het |
| Ddx25 |
A |
T |
9: 35,453,299 (GRCm39) |
Y484N |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,499,734 (GRCm39) |
E506G |
possibly damaging |
Het |
| Ficd |
G |
T |
5: 113,876,800 (GRCm39) |
R325L |
probably benign |
Het |
| G6pc2 |
A |
G |
2: 69,051,239 (GRCm39) |
|
probably benign |
Het |
| Gm11168 |
C |
A |
9: 3,004,767 (GRCm39) |
P103T |
probably benign |
Het |
| Hbb-y |
A |
T |
7: 103,501,976 (GRCm39) |
H98Q |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,577,720 (GRCm39) |
S2014P |
probably benign |
Het |
| Hoxc5 |
T |
C |
15: 102,922,568 (GRCm39) |
Y19H |
probably damaging |
Het |
| Igfbpl1 |
A |
G |
4: 45,813,555 (GRCm39) |
|
probably benign |
Het |
| Ighg2c |
A |
C |
12: 113,251,614 (GRCm39) |
V171G |
unknown |
Het |
| Kctd13 |
A |
G |
7: 126,544,190 (GRCm39) |
D296G |
probably benign |
Het |
| Mfsd2b |
A |
C |
12: 4,924,335 (GRCm39) |
M1R |
probably null |
Het |
| Nipbl |
A |
G |
15: 8,380,360 (GRCm39) |
S811P |
probably benign |
Het |
| Or10al2 |
G |
A |
17: 37,983,448 (GRCm39) |
C178Y |
possibly damaging |
Het |
| Or10al3 |
G |
T |
17: 38,011,682 (GRCm39) |
M40I |
probably damaging |
Het |
| Or52r1 |
G |
A |
7: 102,536,989 (GRCm39) |
R124C |
probably benign |
Het |
| Pcolce2 |
T |
C |
9: 95,560,393 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
G |
T |
7: 116,017,256 (GRCm39) |
T167K |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,938 (GRCm39) |
D271G |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,333,830 (GRCm39) |
I3013T |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,097,493 (GRCm39) |
M765K |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,325,945 (GRCm39) |
Y1244C |
probably benign |
Het |
| Taar7d |
T |
C |
10: 23,903,204 (GRCm39) |
C29R |
possibly damaging |
Het |
| Tlcd4 |
C |
T |
3: 121,022,489 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
C |
2: 76,572,264 (GRCm39) |
F26210V |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,877,534 (GRCm39) |
V145D |
probably damaging |
Het |
| Vmn1r219 |
T |
G |
13: 23,347,580 (GRCm39) |
S256R |
possibly damaging |
Het |
|
| Other mutations in Or5b122 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02029:Or5b122
|
APN |
19 |
13,563,468 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02104:Or5b122
|
APN |
19 |
13,562,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02502:Or5b122
|
APN |
19 |
13,563,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Or5b122
|
APN |
19 |
13,563,483 (GRCm39) |
missense |
probably benign |
|
|
R0008:Or5b122
|
UTSW |
19 |
13,563,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0607:Or5b122
|
UTSW |
19 |
13,563,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0892:Or5b122
|
UTSW |
19 |
13,562,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Or5b122
|
UTSW |
19 |
13,563,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1605:Or5b122
|
UTSW |
19 |
13,562,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1619:Or5b122
|
UTSW |
19 |
13,562,978 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1793:Or5b122
|
UTSW |
19 |
13,562,779 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2073:Or5b122
|
UTSW |
19 |
13,562,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2348:Or5b122
|
UTSW |
19 |
13,563,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5025:Or5b122
|
UTSW |
19 |
13,562,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5383:Or5b122
|
UTSW |
19 |
13,563,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5771:Or5b122
|
UTSW |
19 |
13,562,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6002:Or5b122
|
UTSW |
19 |
13,562,781 (GRCm39) |
start gained |
probably benign |
|
|
R6992:Or5b122
|
UTSW |
19 |
13,562,811 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7404:Or5b122
|
UTSW |
19 |
13,562,752 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8358:Or5b122
|
UTSW |
19 |
13,562,764 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8939:Or5b122
|
UTSW |
19 |
13,562,860 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF002:Or5b122
|
UTSW |
19 |
13,563,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Or5b122
|
UTSW |
19 |
13,563,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Or5b122
|
UTSW |
19 |
13,563,572 (GRCm39) |
missense |
probably null |
0.00 |
|
X0040:Or5b122
|
UTSW |
19 |
13,563,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0040:Or5b122
|
UTSW |
19 |
13,563,572 (GRCm39) |
missense |
probably null |
0.00 |
|
X0067:Or5b122
|
UTSW |
19 |
13,563,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation