Incidental Mutation 'IGL02224:Or13c25'
| ID |
285281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or13c25
|
| Ensembl Gene |
ENSMUSG00000051593 |
| Gene Name |
olfactory receptor family 13 subfamily C member 25 |
| Synonyms |
MOR262-7, GA_x6K02T2N78B-7084885-7085844, Olfr272 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL02224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
52910833-52911792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52911392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 134
(V134D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051600]
[ENSMUST00000107667]
[ENSMUST00000213989]
|
| AlphaFold |
Q8VGA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051600
AA Change: V134D
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055721
Gene: ENSMUSG00000051593
AA Change: V134D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
314 |
1.6e-54 |
PFAM |
|
Pfam:7tm_1
|
41 |
296 |
9.5e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107667
AA Change: V134D
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103294
Gene: ENSMUSG00000051593
AA Change: V134D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
294 |
9.5e-33 |
PFAM |
|
Pfam:7tm_4
|
138 |
287 |
3.3e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213989
AA Change: V134D
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217085
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
A |
13: 4,329,289 (GRCm39) |
T23S |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
| C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
| Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
| Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
| Fbp1 |
T |
A |
13: 63,035,821 (GRCm39) |
T13S |
probably damaging |
Het |
| Flrt2 |
C |
A |
12: 95,746,802 (GRCm39) |
T380K |
possibly damaging |
Het |
| Gpatch11 |
T |
C |
17: 79,148,522 (GRCm39) |
|
probably benign |
Het |
| Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,600,831 (GRCm39) |
Q513R |
unknown |
Het |
| Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,169,271 (GRCm39) |
|
probably benign |
Het |
| Lbp |
A |
G |
2: 158,148,669 (GRCm39) |
N27S |
probably damaging |
Het |
| Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
| Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
| Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
| Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
| Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
| Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,549,064 (GRCm39) |
F66L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
| Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
Het |
|
| Other mutations in Or13c25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Or13c25
|
APN |
4 |
52,911,618 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03293:Or13c25
|
APN |
4 |
52,910,835 (GRCm39) |
makesense |
probably null |
|
|
K3955:Or13c25
|
UTSW |
4 |
52,911,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Or13c25
|
UTSW |
4 |
52,910,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0197:Or13c25
|
UTSW |
4 |
52,910,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0445:Or13c25
|
UTSW |
4 |
52,910,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1517:Or13c25
|
UTSW |
4 |
52,911,502 (GRCm39) |
nonsense |
probably null |
|
|
R1536:Or13c25
|
UTSW |
4 |
52,911,260 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1540:Or13c25
|
UTSW |
4 |
52,910,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1551:Or13c25
|
UTSW |
4 |
52,911,397 (GRCm39) |
nonsense |
probably null |
|
|
R1612:Or13c25
|
UTSW |
4 |
52,911,501 (GRCm39) |
missense |
probably benign |
|
|
R1920:Or13c25
|
UTSW |
4 |
52,910,849 (GRCm39) |
missense |
probably benign |
|
|
R2181:Or13c25
|
UTSW |
4 |
52,911,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Or13c25
|
UTSW |
4 |
52,910,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6331:Or13c25
|
UTSW |
4 |
52,911,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6336:Or13c25
|
UTSW |
4 |
52,911,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Or13c25
|
UTSW |
4 |
52,910,961 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7541:Or13c25
|
UTSW |
4 |
52,911,376 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7727:Or13c25
|
UTSW |
4 |
52,911,368 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7891:Or13c25
|
UTSW |
4 |
52,911,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8782:Or13c25
|
UTSW |
4 |
52,911,693 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9321:Or13c25
|
UTSW |
4 |
52,911,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation