Incidental Mutation 'IGL01949:Or2g25'
| ID |
180997 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2g25
|
| Ensembl Gene |
ENSMUSG00000095286 |
| Gene Name |
olfactory receptor family 2 subfamily G member 25 |
| Synonyms |
MOR256-33, GA_x6K02T2PSCP-2119438-2118485, Olfr117 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37970269-37971222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37970357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 289
(Y289C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073636]
[ENSMUST00000213638]
[ENSMUST00000215414]
|
| AlphaFold |
L7N1Z1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073636
AA Change: Y289C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073320
Gene: ENSMUSG00000095286
AA Change: Y289C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
307 |
2.7e-44 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
222 |
2e-5 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
2.9e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213638
AA Change: Y289C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215414
AA Change: Y289C
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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,223,987 (GRCm39) |
R1247L |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,872,723 (GRCm39) |
M757K |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,904 (GRCm39) |
I182T |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,650,420 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hap1 |
G |
T |
11: 100,239,588 (GRCm39) |
D610E |
probably damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,183,511 (GRCm39) |
Y178F |
possibly damaging |
Het |
| Ighmbp2 |
A |
C |
19: 3,315,538 (GRCm39) |
D627E |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,009,010 (GRCm39) |
I497T |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,361,014 (GRCm39) |
W108* |
probably null |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,066 (GRCm39) |
D480G |
possibly damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,586 (GRCm39) |
|
probably null |
Het |
| Krt5 |
T |
A |
15: 101,619,048 (GRCm39) |
M278L |
probably benign |
Het |
| Krtap4-9 |
G |
A |
11: 99,676,391 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,303,709 (GRCm39) |
D56G |
probably benign |
Het |
| Pdgfra |
C |
A |
5: 75,331,326 (GRCm39) |
H310Q |
probably damaging |
Het |
| Pglyrp2 |
G |
T |
17: 32,635,080 (GRCm39) |
|
probably null |
Het |
| Polk |
C |
T |
13: 96,620,046 (GRCm39) |
S718N |
probably benign |
Het |
| Ppip5k1 |
T |
A |
2: 121,168,341 (GRCm39) |
H687L |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,309 (GRCm39) |
Q292L |
probably damaging |
Het |
| Prodh2 |
A |
G |
7: 30,209,190 (GRCm39) |
|
probably null |
Het |
| Rgs9 |
A |
T |
11: 109,150,660 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
G |
1: 46,069,148 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
C |
T |
4: 58,176,006 (GRCm39) |
G298R |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,979,102 (GRCm39) |
S341P |
probably benign |
Het |
| Ugt3a1 |
T |
C |
15: 9,335,815 (GRCm39) |
F12S |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
G |
T |
18: 82,642,521 (GRCm39) |
T1123K |
probably damaging |
Het |
|
| Other mutations in Or2g25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01862:Or2g25
|
APN |
17 |
37,970,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Or2g25
|
APN |
17 |
37,970,579 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02481:Or2g25
|
APN |
17 |
37,970,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Or2g25
|
APN |
17 |
37,970,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03274:Or2g25
|
APN |
17 |
37,970,646 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0234:Or2g25
|
UTSW |
17 |
37,970,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:Or2g25
|
UTSW |
17 |
37,970,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1522:Or2g25
|
UTSW |
17 |
37,970,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Or2g25
|
UTSW |
17 |
37,970,799 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1750:Or2g25
|
UTSW |
17 |
37,970,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Or2g25
|
UTSW |
17 |
37,970,754 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2371:Or2g25
|
UTSW |
17 |
37,971,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2382:Or2g25
|
UTSW |
17 |
37,970,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3798:Or2g25
|
UTSW |
17 |
37,970,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4831:Or2g25
|
UTSW |
17 |
37,970,969 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5087:Or2g25
|
UTSW |
17 |
37,970,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5365:Or2g25
|
UTSW |
17 |
37,970,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5812:Or2g25
|
UTSW |
17 |
37,970,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Or2g25
|
UTSW |
17 |
37,971,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6405:Or2g25
|
UTSW |
17 |
37,971,014 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6945:Or2g25
|
UTSW |
17 |
37,970,405 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7121:Or2g25
|
UTSW |
17 |
37,970,699 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7312:Or2g25
|
UTSW |
17 |
37,970,403 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7502:Or2g25
|
UTSW |
17 |
37,971,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Or2g25
|
UTSW |
17 |
37,970,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Or2g25
|
UTSW |
17 |
37,970,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Or2g25
|
UTSW |
17 |
37,970,760 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9168:Or2g25
|
UTSW |
17 |
37,971,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF017:Or2g25
|
UTSW |
17 |
37,970,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation