Incidental Mutation 'IGL00971:Or13p10'
| ID |
27329 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or13p10
|
| Ensembl Gene |
ENSMUSG00000043698 |
| Gene Name |
olfactory receptor family 13 subfamily P member 10 |
| Synonyms |
MOR258-5, Olfr62, IH12, GA_x6K02T2QD9B-18877756-18876809 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
IGL00971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
118522716-118523663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118523475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 254
(F254I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102666]
[ENSMUST00000213189]
[ENSMUST00000217013]
|
| AlphaFold |
L7MU75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102666
AA Change: F254I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099727
Gene: ENSMUSG00000043698
AA Change: F254I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
2.9e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
308 |
1e-8 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
2.2e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213189
AA Change: F254I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217013
AA Change: F254I
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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
C |
T |
14: 35,532,170 (GRCm39) |
C135Y |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,072,575 (GRCm39) |
|
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,795,622 (GRCm39) |
V347A |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,622,092 (GRCm39) |
S587P |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,029,660 (GRCm39) |
Y524C |
probably damaging |
Het |
| Cimip2b |
A |
G |
4: 43,428,377 (GRCm39) |
L51P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,283,219 (GRCm39) |
N3573S |
possibly damaging |
Het |
| Cyp1a1 |
G |
T |
9: 57,607,990 (GRCm39) |
C206F |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,042 (GRCm39) |
Y255H |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,731,230 (GRCm39) |
I295V |
possibly damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
| Gvin-ps3 |
G |
A |
7: 105,681,008 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr6 |
C |
T |
11: 83,650,135 (GRCm39) |
P197L |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Helz |
A |
T |
11: 107,554,479 (GRCm39) |
I1226F |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,277 (GRCm39) |
I749N |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,771,564 (GRCm39) |
E2G |
possibly damaging |
Het |
| Jam3 |
A |
C |
9: 27,013,188 (GRCm39) |
D127E |
probably damaging |
Het |
| Kif16b |
G |
T |
2: 142,553,664 (GRCm39) |
Q1045K |
probably benign |
Het |
| Kin |
T |
C |
2: 10,095,159 (GRCm39) |
W121R |
possibly damaging |
Het |
| Man1b1 |
T |
G |
2: 25,233,337 (GRCm39) |
S237A |
possibly damaging |
Het |
| Mmel1 |
C |
T |
4: 154,972,289 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
T |
C |
19: 42,064,559 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,882 (GRCm39) |
T362A |
possibly damaging |
Het |
| Ntpcr |
C |
T |
8: 126,474,501 (GRCm39) |
T153M |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,804 (GRCm39) |
L1777P |
probably benign |
Het |
| Postn |
A |
G |
3: 54,276,697 (GRCm39) |
N192S |
possibly damaging |
Het |
| Prkar1a |
A |
T |
11: 109,551,877 (GRCm39) |
Y122F |
probably benign |
Het |
| Serpinb7 |
A |
G |
1: 107,355,976 (GRCm39) |
|
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,126,496 (GRCm39) |
I121N |
probably damaging |
Het |
| Slamf7 |
T |
A |
1: 171,466,810 (GRCm39) |
I132L |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,580,227 (GRCm39) |
|
probably benign |
Het |
| Tesc |
G |
A |
5: 118,194,504 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
C |
A |
2: 28,560,952 (GRCm39) |
S270* |
probably null |
Het |
| Wap |
C |
A |
11: 6,586,808 (GRCm39) |
C97F |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,822,234 (GRCm39) |
S155P |
probably benign |
Het |
| Zfp469 |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
C |
T |
17: 21,683,844 (GRCm39) |
T153M |
probably benign |
Het |
| Zfp579 |
A |
G |
7: 4,996,390 (GRCm39) |
I507T |
probably damaging |
Het |
|
| Other mutations in Or13p10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02203:Or13p10
|
APN |
4 |
118,523,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02259:Or13p10
|
APN |
4 |
118,523,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02523:Or13p10
|
APN |
4 |
118,523,238 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03324:Or13p10
|
APN |
4 |
118,523,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1215:Or13p10
|
UTSW |
4 |
118,523,496 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1656:Or13p10
|
UTSW |
4 |
118,523,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2085:Or13p10
|
UTSW |
4 |
118,523,301 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2441:Or13p10
|
UTSW |
4 |
118,523,332 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6277:Or13p10
|
UTSW |
4 |
118,523,520 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6306:Or13p10
|
UTSW |
4 |
118,523,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Or13p10
|
UTSW |
4 |
118,522,808 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6700:Or13p10
|
UTSW |
4 |
118,523,609 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7410:Or13p10
|
UTSW |
4 |
118,523,629 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7723:Or13p10
|
UTSW |
4 |
118,522,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7991:Or13p10
|
UTSW |
4 |
118,523,489 (GRCm39) |
nonsense |
probably null |
|
|
R8222:Or13p10
|
UTSW |
4 |
118,523,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Or13p10
|
UTSW |
4 |
118,523,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Or13p10
|
UTSW |
4 |
118,523,502 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Or13p10
|
UTSW |
4 |
118,523,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation