Incidental Mutation 'IGL02713:Or13a28'
| ID |
304632 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or13a28
|
| Ensembl Gene |
ENSMUSG00000096069 |
| Gene Name |
olfactory receptor family 13 subfamily A member 28 |
| Synonyms |
Olfr61, IH7, GA_x6K02T2PBJ9-42783826-42784758, MOR253-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02713
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140217616-140218551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140217829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 72
(I72F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084455]
[ENSMUST00000210241]
[ENSMUST00000210373]
[ENSMUST00000211685]
|
| AlphaFold |
Q8VGM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084455
AA Change: I72F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081493
Gene: ENSMUSG00000096069
AA Change: I72F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
3.3e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
175 |
1.3e-8 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3.6e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210241
AA Change: I72F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210373
AA Change: I13F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211685
AA Change: I72F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,992 (GRCm39) |
T1588A |
possibly damaging |
Het |
| Apeh |
A |
T |
9: 107,962,871 (GRCm39) |
L700Q |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,393,286 (GRCm39) |
I2272T |
probably damaging |
Het |
| Best3 |
T |
G |
10: 116,860,434 (GRCm39) |
F565V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,319 (GRCm39) |
N521S |
probably benign |
Het |
| Cd209f |
T |
A |
8: 4,153,732 (GRCm39) |
R191S |
probably benign |
Het |
| Clec4e |
A |
T |
6: 123,263,263 (GRCm39) |
Y63* |
probably null |
Het |
| Cracdl |
C |
A |
1: 37,663,218 (GRCm39) |
K893N |
possibly damaging |
Het |
| Cyp26c1 |
C |
T |
19: 37,681,667 (GRCm39) |
T490M |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,872,945 (GRCm39) |
H29Q |
probably benign |
Het |
| Cyp2d10 |
A |
C |
15: 82,290,283 (GRCm39) |
|
probably benign |
Het |
| Dgat1 |
C |
A |
15: 76,387,734 (GRCm39) |
R291L |
probably damaging |
Het |
| Dyrk1a |
C |
A |
16: 94,486,204 (GRCm39) |
|
probably benign |
Het |
| Esp4 |
T |
C |
17: 40,913,297 (GRCm39) |
F55L |
probably benign |
Het |
| Fam227a |
G |
A |
15: 79,520,997 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
T |
C |
10: 75,410,178 (GRCm39) |
Y37H |
probably damaging |
Het |
| Grsf1 |
A |
T |
5: 88,820,589 (GRCm39) |
I64K |
probably damaging |
Het |
| Itga6 |
C |
T |
2: 71,647,057 (GRCm39) |
T89I |
possibly damaging |
Het |
| Jph2 |
T |
C |
2: 163,217,837 (GRCm39) |
T280A |
probably damaging |
Het |
| Lipm |
A |
G |
19: 34,078,570 (GRCm39) |
M1V |
probably null |
Het |
| Nbeal1 |
C |
T |
1: 60,274,396 (GRCm39) |
A513V |
possibly damaging |
Het |
| Or10a3 |
G |
A |
7: 108,480,060 (GRCm39) |
T251I |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,424,801 (GRCm39) |
M135K |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,553 (GRCm39) |
I121F |
possibly damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
| Or8b101 |
C |
T |
9: 38,020,623 (GRCm39) |
P214S |
probably damaging |
Het |
| Orc6 |
A |
G |
8: 86,034,215 (GRCm39) |
E146G |
probably benign |
Het |
| Patl2 |
A |
G |
2: 121,956,328 (GRCm39) |
S179P |
probably benign |
Het |
| Pdzd8 |
C |
A |
19: 59,333,890 (GRCm39) |
G44C |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,253,938 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3b |
T |
G |
11: 29,138,445 (GRCm39) |
H264Q |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,468,807 (GRCm39) |
I1409T |
possibly damaging |
Het |
| Pum1 |
T |
A |
4: 130,493,323 (GRCm39) |
I842N |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sgca |
T |
A |
11: 94,862,131 (GRCm39) |
N174Y |
probably damaging |
Het |
| Slc7a14 |
A |
T |
3: 31,311,912 (GRCm39) |
L36Q |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stard13 |
G |
A |
5: 150,965,651 (GRCm39) |
Q935* |
probably null |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,773,911 (GRCm39) |
L520Q |
possibly damaging |
Het |
| Tmem26 |
T |
C |
10: 68,587,125 (GRCm39) |
F191S |
probably damaging |
Het |
|
| Other mutations in Or13a28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Or13a28
|
APN |
7 |
140,218,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01837:Or13a28
|
APN |
7 |
140,218,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Or13a28
|
APN |
7 |
140,218,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02982:Or13a28
|
APN |
7 |
140,217,865 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03205:Or13a28
|
APN |
7 |
140,218,073 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1477:Or13a28
|
UTSW |
7 |
140,218,355 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1564:Or13a28
|
UTSW |
7 |
140,217,967 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1900:Or13a28
|
UTSW |
7 |
140,218,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2149:Or13a28
|
UTSW |
7 |
140,217,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2504:Or13a28
|
UTSW |
7 |
140,218,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2887:Or13a28
|
UTSW |
7 |
140,218,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Or13a28
|
UTSW |
7 |
140,217,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4628:Or13a28
|
UTSW |
7 |
140,218,297 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4775:Or13a28
|
UTSW |
7 |
140,217,829 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5805:Or13a28
|
UTSW |
7 |
140,218,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6019:Or13a28
|
UTSW |
7 |
140,217,925 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6244:Or13a28
|
UTSW |
7 |
140,218,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Or13a28
|
UTSW |
7 |
140,218,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Or13a28
|
UTSW |
7 |
140,217,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Or13a28
|
UTSW |
7 |
140,217,637 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7936:Or13a28
|
UTSW |
7 |
140,217,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9060:Or13a28
|
UTSW |
7 |
140,217,695 (GRCm39) |
missense |
|
|
|
R9114:Or13a28
|
UTSW |
7 |
140,218,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Or13a28
|
UTSW |
7 |
140,218,133 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation