Incidental Mutation 'IGL01592:Or2z9'
| ID |
91612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2z9
|
| Ensembl Gene |
ENSMUSG00000061561 |
| Gene Name |
olfactory receptor family 2 subfamily Z member 9 |
| Synonyms |
MOR282-1, GA_x6K02T2NUPS-231686-232630, Olfr373, MOR282-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.250)
|
| Stock # |
IGL01592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
72853606-72854550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72854356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 251
(F251I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074540]
[ENSMUST00000213940]
[ENSMUST00000215198]
|
| AlphaFold |
E9Q4J3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074540
AA Change: F251I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074128
Gene: ENSMUSG00000061561
AA Change: F251I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
6.1e-57 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
253 |
6.5e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.9e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213940
AA Change: F251I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215198
AA Change: F251I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
G |
12: 53,188,925 (GRCm39) |
D2113G |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,868,111 (GRCm39) |
V125E |
probably damaging |
Het |
| Cdan1 |
T |
A |
2: 120,556,466 (GRCm39) |
Y653F |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,921,717 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,321,913 (GRCm39) |
N3802K |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,236,783 (GRCm39) |
I370V |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,262,099 (GRCm39) |
E761G |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,825 (GRCm39) |
E33G |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,582,267 (GRCm39) |
D25E |
possibly damaging |
Het |
| E2f8 |
T |
C |
7: 48,517,605 (GRCm39) |
T733A |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,953,294 (GRCm39) |
E32G |
probably damaging |
Het |
| Grip1 |
T |
A |
10: 119,765,908 (GRCm39) |
V80E |
probably damaging |
Het |
| Igsf6 |
T |
C |
7: 120,670,016 (GRCm39) |
Y42C |
probably damaging |
Het |
| Katna1 |
T |
G |
10: 7,617,218 (GRCm39) |
M70R |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,309,052 (GRCm39) |
K102R |
probably benign |
Het |
| Lypla1 |
T |
A |
1: 4,898,874 (GRCm39) |
|
probably null |
Het |
| Or6c69b |
A |
G |
10: 129,627,188 (GRCm39) |
I90T |
probably damaging |
Het |
| Pgap1 |
G |
A |
1: 54,560,470 (GRCm39) |
P444L |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,776,795 (GRCm39) |
V657M |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,803 (GRCm39) |
Y214* |
probably null |
Het |
| Polq |
A |
C |
16: 36,855,212 (GRCm39) |
I436L |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,671,909 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,381 (GRCm39) |
S84P |
probably damaging |
Het |
| Slc30a6 |
T |
A |
17: 74,726,523 (GRCm39) |
|
probably benign |
Het |
| Trim38 |
A |
G |
13: 23,975,410 (GRCm39) |
T450A |
possibly damaging |
Het |
| Ubqlnl |
A |
T |
7: 103,799,496 (GRCm39) |
|
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,764,445 (GRCm39) |
K441E |
probably benign |
Het |
| Wnt8a |
A |
G |
18: 34,677,846 (GRCm39) |
T85A |
probably damaging |
Het |
|
| Other mutations in Or2z9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02440:Or2z9
|
APN |
8 |
72,854,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03403:Or2z9
|
APN |
8 |
72,854,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1099:Or2z9
|
UTSW |
8 |
72,854,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1418:Or2z9
|
UTSW |
8 |
72,854,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Or2z9
|
UTSW |
8 |
72,854,020 (GRCm39) |
nonsense |
probably null |
|
|
R1621:Or2z9
|
UTSW |
8 |
72,853,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Or2z9
|
UTSW |
8 |
72,853,930 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4230:Or2z9
|
UTSW |
8 |
72,854,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Or2z9
|
UTSW |
8 |
72,853,612 (GRCm39) |
missense |
probably benign |
|
|
R5035:Or2z9
|
UTSW |
8 |
72,853,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Or2z9
|
UTSW |
8 |
72,854,345 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6909:Or2z9
|
UTSW |
8 |
72,854,372 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7233:Or2z9
|
UTSW |
8 |
72,853,900 (GRCm39) |
missense |
probably benign |
|
|
R7304:Or2z9
|
UTSW |
8 |
72,854,190 (GRCm39) |
nonsense |
probably null |
|
|
R7312:Or2z9
|
UTSW |
8 |
72,853,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Or2z9
|
UTSW |
8 |
72,854,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Or2z9
|
UTSW |
8 |
72,854,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or2z9
|
UTSW |
8 |
72,854,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation