Incidental Mutation 'R0965:Or9g4b'
ID |
81606 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or9g4b
|
Ensembl Gene |
ENSMUSG00000033850 |
Gene Name |
olfactory receptor family 9 subfamily G member 4B |
Synonyms |
GA_x6K02T2Q125-47264151-47265089, Olfr1015, MOR213-3 |
MMRRC Submission |
039094-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.262)
|
Stock # |
R0965 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
85615818-85616833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85616643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 263
(S263G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047870]
[ENSMUST00000215945]
|
AlphaFold |
Q7TR94 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047870
AA Change: S263G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046301 Gene: ENSMUSG00000033850 AA Change: S263G
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
4.5e-49 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
4.2e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214726
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215945
AA Change: S263G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.5%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
AGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGG |
4: 129,886,209 (GRCm39) |
|
probably benign |
Het |
Amacr |
C |
T |
15: 10,984,891 (GRCm39) |
R170C |
probably damaging |
Het |
Bcl2 |
A |
T |
1: 106,640,021 (GRCm39) |
L197Q |
probably benign |
Het |
Brd1 |
G |
A |
15: 88,601,231 (GRCm39) |
R468W |
probably damaging |
Het |
Esco1 |
A |
G |
18: 10,567,570 (GRCm39) |
F821L |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Gzma |
G |
A |
13: 113,234,868 (GRCm39) |
P38L |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,857,593 (GRCm39) |
L174P |
probably benign |
Het |
Med19 |
A |
G |
2: 84,508,793 (GRCm39) |
E2G |
probably damaging |
Het |
Muc5b |
C |
T |
7: 141,417,539 (GRCm39) |
T3495I |
possibly damaging |
Het |
Nfatc4 |
T |
C |
14: 56,064,043 (GRCm39) |
S107P |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Phf11c |
T |
A |
14: 59,618,931 (GRCm39) |
I285F |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,647,580 (GRCm39) |
V3668A |
probably benign |
Het |
Rbm20 |
T |
C |
19: 53,847,832 (GRCm39) |
F1126S |
probably damaging |
Het |
Slc7a5 |
T |
C |
8: 122,633,840 (GRCm39) |
E169G |
probably benign |
Het |
Slco1b2 |
C |
A |
6: 141,631,322 (GRCm39) |
T652K |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Tmem119 |
A |
C |
5: 113,933,480 (GRCm39) |
V107G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,629,915 (GRCm39) |
G14205V |
probably damaging |
Het |
Zc3h11a |
T |
C |
1: 133,573,541 (GRCm39) |
N33S |
possibly damaging |
Het |
|
Other mutations in Or9g4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00902:Or9g4b
|
APN |
2 |
85,616,461 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01716:Or9g4b
|
APN |
2 |
85,616,487 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03196:Or9g4b
|
APN |
2 |
85,616,365 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03374:Or9g4b
|
APN |
2 |
85,616,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Or9g4b
|
UTSW |
2 |
85,616,147 (GRCm39) |
nonsense |
probably null |
|
R0330:Or9g4b
|
UTSW |
2 |
85,616,147 (GRCm39) |
nonsense |
probably null |
|
R0714:Or9g4b
|
UTSW |
2 |
85,616,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R1078:Or9g4b
|
UTSW |
2 |
85,616,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3826:Or9g4b
|
UTSW |
2 |
85,616,559 (GRCm39) |
nonsense |
probably null |
|
R5031:Or9g4b
|
UTSW |
2 |
85,616,062 (GRCm39) |
nonsense |
probably null |
|
R5239:Or9g4b
|
UTSW |
2 |
85,616,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R6120:Or9g4b
|
UTSW |
2 |
85,616,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:Or9g4b
|
UTSW |
2 |
85,616,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R6726:Or9g4b
|
UTSW |
2 |
85,615,906 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6954:Or9g4b
|
UTSW |
2 |
85,616,726 (GRCm39) |
nonsense |
probably null |
|
R7766:Or9g4b
|
UTSW |
2 |
85,616,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R8193:Or9g4b
|
UTSW |
2 |
85,616,305 (GRCm39) |
missense |
probably benign |
0.34 |
R8245:Or9g4b
|
UTSW |
2 |
85,616,119 (GRCm39) |
missense |
probably benign |
0.02 |
R8339:Or9g4b
|
UTSW |
2 |
85,615,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R9272:Or9g4b
|
UTSW |
2 |
85,616,088 (GRCm39) |
missense |
probably benign |
0.09 |
Z1176:Or9g4b
|
UTSW |
2 |
85,616,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCGTGTCTATGTGAAAATCCTTTCC -3'
(R):5'- TGTCTATAAGCGAGTTTTGAACAGCCC -3'
Sequencing Primer
(F):5'- AAATCCTTTCCAGTATGGTGGGC -3'
(R):5'- GTCTGCATCAACTTCTTAAAGGCTTC -3'
|
Posted On |
2013-11-08 |