Incidental Mutation 'IGL00933:Or9k2b'
| ID |
28344 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or9k2b
|
| Ensembl Gene |
ENSMUSG00000059862 |
| Gene Name |
olfactory receptor family 9 subfamily K member 2B |
| Synonyms |
MOR210-2, GA_x6K02T2PULF-11851623-11850682, Olfr826 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL00933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
130015806-130016747 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130016083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 222
(M222K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078322]
[ENSMUST00000203720]
[ENSMUST00000216661]
|
| AlphaFold |
Q8VFU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078322
AA Change: M222K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000077436
Gene: ENSMUSG00000059862
AA Change: M222K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
309 |
2.3e-52 |
PFAM |
|
Pfam:7tm_1
|
44 |
291 |
3.7e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203720
AA Change: M222K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144755
Gene: ENSMUSG00000059862
AA Change: M222K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
309 |
2.3e-52 |
PFAM |
|
Pfam:7tm_1
|
44 |
291 |
3.7e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216661
AA Change: M222K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc3 |
T |
A |
13: 81,039,174 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,465,869 (GRCm39) |
S1878G |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,407,595 (GRCm39) |
H314R |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,767,961 (GRCm39) |
I1114T |
probably benign |
Het |
| Eml3 |
G |
A |
19: 8,913,762 (GRCm39) |
W73* |
probably null |
Het |
| Fmo4 |
G |
T |
1: 162,621,592 (GRCm39) |
Q540K |
probably benign |
Het |
| Fstl4 |
G |
A |
11: 53,077,588 (GRCm39) |
G782R |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,676,587 (GRCm39) |
I925T |
possibly damaging |
Het |
| Itsn2 |
T |
G |
12: 4,757,540 (GRCm39) |
F1411C |
probably damaging |
Het |
| Lmna |
A |
T |
3: 88,389,856 (GRCm39) |
C590S |
possibly damaging |
Het |
| Magi3 |
A |
G |
3: 103,923,163 (GRCm39) |
Y1185H |
probably benign |
Het |
| Marf1 |
A |
G |
16: 13,935,221 (GRCm39) |
Y1516H |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,871,874 (GRCm39) |
D2306G |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,257,317 (GRCm39) |
V742A |
probably damaging |
Het |
| Nol4l |
A |
G |
2: 153,319,856 (GRCm39) |
F175S |
probably damaging |
Het |
| Orm2 |
T |
C |
4: 63,282,389 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
T |
A |
9: 98,983,339 (GRCm39) |
T90S |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,060,114 (GRCm39) |
P1072S |
probably benign |
Het |
| Rgr |
A |
T |
14: 36,760,875 (GRCm39) |
Y227* |
probably null |
Het |
| Snd1 |
T |
C |
6: 28,512,985 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
A |
G |
9: 20,260,104 (GRCm39) |
S253P |
probably benign |
Het |
|
| Other mutations in Or9k2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0627:Or9k2b
|
UTSW |
10 |
130,016,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Or9k2b
|
UTSW |
10 |
130,016,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1834:Or9k2b
|
UTSW |
10 |
130,016,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1957:Or9k2b
|
UTSW |
10 |
130,015,847 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3717:Or9k2b
|
UTSW |
10 |
130,016,369 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5106:Or9k2b
|
UTSW |
10 |
130,016,177 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5837:Or9k2b
|
UTSW |
10 |
130,016,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6348:Or9k2b
|
UTSW |
10 |
130,016,166 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6971:Or9k2b
|
UTSW |
10 |
130,016,638 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7181:Or9k2b
|
UTSW |
10 |
130,016,626 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7394:Or9k2b
|
UTSW |
10 |
130,016,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Or9k2b
|
UTSW |
10 |
130,016,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8429:Or9k2b
|
UTSW |
10 |
130,016,092 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8679:Or9k2b
|
UTSW |
10 |
130,016,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8746:Or9k2b
|
UTSW |
10 |
130,016,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Or9k2b
|
UTSW |
10 |
130,016,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9204:Or9k2b
|
UTSW |
10 |
130,016,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Or9k2b
|
UTSW |
10 |
130,016,605 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9379:Or9k2b
|
UTSW |
10 |
130,016,605 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9568:Or9k2b
|
UTSW |
10 |
130,015,814 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Or9k2b
|
UTSW |
10 |
130,015,834 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2013-04-17 |
Incidental Mutation