Incidental Mutation 'IGL02230:Or10a2'
| ID |
285642 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10a2
|
| Ensembl Gene |
ENSMUSG00000049674 |
| Gene Name |
olfactory receptor family 10 subfamily A member 2 |
| Synonyms |
GA_x6K02T2PBJ9-9453401-9454354, Olfr714, P4, MOR263-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL02230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
106673037-106673990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106673700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 222
(I222V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054629]
[ENSMUST00000214429]
|
| AlphaFold |
Q7TRN0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054629
AA Change: I222V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095742
Gene: ENSMUSG00000049674
AA Change: I222V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
8.5e-56 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3.5e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214123
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214429
AA Change: I222V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal olfactory sensory neuron projections. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,218,604 (GRCm39) |
T727S |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,193 (GRCm39) |
I374F |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,079,916 (GRCm39) |
N399S |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,190 (GRCm39) |
E317G |
probably damaging |
Het |
| Gm10030 |
T |
A |
9: 110,835,458 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4884 |
A |
T |
7: 40,692,829 (GRCm39) |
Q266L |
probably damaging |
Het |
| Gpr45 |
C |
A |
1: 43,071,816 (GRCm39) |
A153E |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,903,682 (GRCm39) |
F991L |
probably benign |
Het |
| Hif1a |
T |
G |
12: 73,979,224 (GRCm39) |
D249E |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,743 (GRCm39) |
L194P |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,245,956 (GRCm39) |
S947P |
probably damaging |
Het |
| Kng1 |
G |
T |
16: 22,879,244 (GRCm39) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,879 (GRCm39) |
K245N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,702,197 (GRCm39) |
R335* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,614,801 (GRCm39) |
|
probably benign |
Het |
| Ncbp1 |
C |
A |
4: 46,165,272 (GRCm39) |
N528K |
probably benign |
Het |
| Or7a41 |
T |
A |
10: 78,870,876 (GRCm39) |
M82K |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,772,032 (GRCm39) |
L364P |
probably damaging |
Het |
| R3hdm4 |
C |
A |
10: 79,747,925 (GRCm39) |
A206S |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,136,145 (GRCm39) |
I589T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,354 (GRCm39) |
E24G |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,599,861 (GRCm39) |
I815V |
possibly damaging |
Het |
| Serpina16 |
A |
G |
12: 103,641,561 (GRCm39) |
Y55H |
probably damaging |
Het |
| Sirt2 |
C |
T |
7: 28,478,371 (GRCm39) |
R83C |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,752,195 (GRCm39) |
|
probably null |
Het |
| Stmn1 |
A |
G |
4: 134,200,224 (GRCm39) |
E99G |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,014,019 (GRCm39) |
I16V |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,927,056 (GRCm39) |
K334E |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,417,233 (GRCm39) |
I876T |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,807,591 (GRCm39) |
V289D |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Or10a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02562:Or10a2
|
APN |
7 |
106,673,769 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02597:Or10a2
|
APN |
7 |
106,673,646 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02598:Or10a2
|
APN |
7 |
106,673,923 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02981:Or10a2
|
APN |
7 |
106,673,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Or10a2
|
UTSW |
7 |
106,673,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB014:Or10a2
|
UTSW |
7 |
106,673,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0064:Or10a2
|
UTSW |
7 |
106,673,487 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0064:Or10a2
|
UTSW |
7 |
106,673,487 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0518:Or10a2
|
UTSW |
7 |
106,673,965 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0521:Or10a2
|
UTSW |
7 |
106,673,965 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1661:Or10a2
|
UTSW |
7 |
106,673,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Or10a2
|
UTSW |
7 |
106,673,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Or10a2
|
UTSW |
7 |
106,673,826 (GRCm39) |
nonsense |
probably null |
|
|
R2202:Or10a2
|
UTSW |
7 |
106,673,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3884:Or10a2
|
UTSW |
7 |
106,673,110 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4362:Or10a2
|
UTSW |
7 |
106,673,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:Or10a2
|
UTSW |
7 |
106,673,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5375:Or10a2
|
UTSW |
7 |
106,673,080 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5654:Or10a2
|
UTSW |
7 |
106,673,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Or10a2
|
UTSW |
7 |
106,673,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Or10a2
|
UTSW |
7 |
106,673,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7202:Or10a2
|
UTSW |
7 |
106,673,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7232:Or10a2
|
UTSW |
7 |
106,673,062 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7927:Or10a2
|
UTSW |
7 |
106,673,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9157:Or10a2
|
UTSW |
7 |
106,673,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Or10a2
|
UTSW |
7 |
106,673,739 (GRCm39) |
nonsense |
probably null |
|
|
R9629:Or10a2
|
UTSW |
7 |
106,673,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or10a2
|
UTSW |
7 |
106,673,612 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2015-04-16 |
Incidental Mutation