Incidental Mutation 'IGL02603:Or11g24'
| ID |
300141 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or11g24
|
| Ensembl Gene |
ENSMUSG00000057903 |
| Gene Name |
olfactory receptor family 11 subfamily G member 24 |
| Synonyms |
GA_x6K02T2PMLR-6121675-6122604, MOR106-2, Olfr739 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02603
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
50661978-50662907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50662657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 227
(V227E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075261]
[ENSMUST00000216949]
|
| AlphaFold |
E9Q1P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075261
AA Change: V227E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074740
Gene: ENSMUSG00000057903
AA Change: V227E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
309 |
1.1e-53 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
1.9e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216949
AA Change: V227E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,637,071 (GRCm39) |
S3457P |
possibly damaging |
Het |
| Aipl1 |
A |
G |
11: 71,927,526 (GRCm39) |
I63T |
possibly damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,289 (GRCm39) |
S286P |
possibly damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,280,807 (GRCm39) |
R946H |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,853,873 (GRCm39) |
S232P |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,709,409 (GRCm39) |
R21L |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,125,436 (GRCm39) |
|
noncoding transcript |
Het |
| Haao |
T |
A |
17: 84,142,970 (GRCm39) |
D125V |
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,657,588 (GRCm39) |
V832A |
probably damaging |
Het |
| Lrrtm4 |
C |
A |
6: 79,999,967 (GRCm39) |
Q460K |
possibly damaging |
Het |
| Lyar |
A |
G |
5: 38,391,405 (GRCm39) |
N368S |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Lztr1 |
C |
A |
16: 17,327,550 (GRCm39) |
N84K |
possibly damaging |
Het |
| Ndufa8 |
C |
A |
2: 35,934,470 (GRCm39) |
C36F |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,404 (GRCm39) |
S119T |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,526,693 (GRCm39) |
S146P |
probably benign |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Spopfm3 |
A |
T |
3: 94,105,744 (GRCm39) |
T21S |
possibly damaging |
Het |
|
| Other mutations in Or11g24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Or11g24
|
APN |
14 |
50,662,018 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02430:Or11g24
|
APN |
14 |
50,662,608 (GRCm39) |
missense |
probably benign |
|
|
IGL02959:Or11g24
|
APN |
14 |
50,662,389 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03154:Or11g24
|
APN |
14 |
50,662,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0455:Or11g24
|
UTSW |
14 |
50,662,359 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1984:Or11g24
|
UTSW |
14 |
50,662,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3160:Or11g24
|
UTSW |
14 |
50,662,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3161:Or11g24
|
UTSW |
14 |
50,662,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3162:Or11g24
|
UTSW |
14 |
50,662,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4821:Or11g24
|
UTSW |
14 |
50,662,206 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4880:Or11g24
|
UTSW |
14 |
50,662,758 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5047:Or11g24
|
UTSW |
14 |
50,662,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Or11g24
|
UTSW |
14 |
50,662,846 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5385:Or11g24
|
UTSW |
14 |
50,662,846 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5386:Or11g24
|
UTSW |
14 |
50,662,846 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5640:Or11g24
|
UTSW |
14 |
50,662,111 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5809:Or11g24
|
UTSW |
14 |
50,662,905 (GRCm39) |
makesense |
probably null |
|
|
R6035:Or11g24
|
UTSW |
14 |
50,661,984 (GRCm39) |
missense |
probably benign |
|
|
R6035:Or11g24
|
UTSW |
14 |
50,661,984 (GRCm39) |
missense |
probably benign |
|
|
R6229:Or11g24
|
UTSW |
14 |
50,662,662 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6614:Or11g24
|
UTSW |
14 |
50,662,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7308:Or11g24
|
UTSW |
14 |
50,662,722 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7443:Or11g24
|
UTSW |
14 |
50,662,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Or11g24
|
UTSW |
14 |
50,662,792 (GRCm39) |
missense |
probably benign |
|
|
R7700:Or11g24
|
UTSW |
14 |
50,662,792 (GRCm39) |
missense |
probably benign |
|
|
R7851:Or11g24
|
UTSW |
14 |
50,662,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8397:Or11g24
|
UTSW |
14 |
50,662,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8906:Or11g24
|
UTSW |
14 |
50,662,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Or11g24
|
UTSW |
14 |
50,662,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation