Incidental Mutation 'IGL02101:Oc90'
| ID |
279753 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oc90
|
| Ensembl Gene |
ENSMUSG00000015001 |
| Gene Name |
otoconin 90 |
| Synonyms |
PLA2L, Ocn-95, Pla2ll |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02101
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
65747902-65784246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65769638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 73
(P73Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060522]
[ENSMUST00000079776]
|
| AlphaFold |
Q9Z0L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060522
AA Change: P73Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: P73Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PA2c
|
74 |
190 |
1.75e-15 |
SMART |
|
PA2c
|
314 |
429 |
3.5e-15 |
SMART |
|
low complexity region
|
446 |
458 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079776
AA Change: P73Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: P73Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PA2c
|
74 |
190 |
1.75e-15 |
SMART |
|
PA2c
|
282 |
397 |
3.5e-15 |
SMART |
|
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156996
AA Change: P56Q
|
| SMART Domains |
Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: P56Q
| Domain | Start | End | E-Value | Type |
|---|
|
PA2c
|
58 |
174 |
1.75e-15 |
SMART |
|
PA2c
|
283 |
398 |
3.5e-15 |
SMART |
|
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit reduced, enlarged, and loose otoliths, and thin cupula, saccule, utricle and tectorial membranes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd163 |
T |
A |
6: 124,284,246 (GRCm39) |
C139* |
probably null |
Het |
| Ces2g |
A |
G |
8: 105,691,769 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,402,885 (GRCm39) |
|
probably benign |
Het |
| Cmtm7 |
T |
C |
9: 114,592,336 (GRCm39) |
H87R |
probably damaging |
Het |
| Dennd3 |
A |
G |
15: 73,399,794 (GRCm39) |
D220G |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,339,555 (GRCm39) |
Y324C |
probably damaging |
Het |
| Dsc3 |
C |
T |
18: 20,134,963 (GRCm39) |
R7Q |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,086,392 (GRCm39) |
K598E |
possibly damaging |
Het |
| Ighv7-3 |
A |
G |
12: 114,117,045 (GRCm39) |
L39P |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,442,932 (GRCm39) |
S9R |
possibly damaging |
Het |
| Mrgpra3 |
A |
G |
7: 47,239,300 (GRCm39) |
C209R |
probably damaging |
Het |
| Or2m12 |
T |
C |
16: 19,105,363 (GRCm39) |
I43M |
probably benign |
Het |
| Or3a1b |
G |
A |
11: 74,012,571 (GRCm39) |
W152* |
probably null |
Het |
| Pccb |
A |
G |
9: 100,869,894 (GRCm39) |
F346L |
possibly damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,687,720 (GRCm39) |
I225T |
probably damaging |
Het |
| Pold3 |
A |
T |
7: 99,749,703 (GRCm39) |
M154K |
probably damaging |
Het |
| Polr1a |
T |
G |
6: 71,927,786 (GRCm39) |
C846G |
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,162,089 (GRCm39) |
R978L |
possibly damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,615,408 (GRCm39) |
V582A |
probably damaging |
Het |
| Sez6l |
G |
T |
5: 112,620,612 (GRCm39) |
Q323K |
probably damaging |
Het |
| Slc27a5 |
A |
T |
7: 12,727,270 (GRCm39) |
I384N |
possibly damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,355,631 (GRCm39) |
F227L |
probably benign |
Het |
| Smad4 |
C |
A |
18: 73,791,723 (GRCm39) |
A273S |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,849,657 (GRCm39) |
I84V |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,268,708 (GRCm39) |
T95A |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,329,995 (GRCm39) |
D1076G |
probably benign |
Het |
|
| Other mutations in Oc90 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Oc90
|
APN |
15 |
65,761,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01746:Oc90
|
APN |
15 |
65,761,250 (GRCm39) |
splice site |
probably benign |
|
|
IGL02175:Oc90
|
APN |
15 |
65,755,674 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02691:Oc90
|
APN |
15 |
65,754,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Oc90
|
APN |
15 |
65,759,983 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0010:Oc90
|
UTSW |
15 |
65,748,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Oc90
|
UTSW |
15 |
65,769,514 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1466:Oc90
|
UTSW |
15 |
65,769,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Oc90
|
UTSW |
15 |
65,769,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Oc90
|
UTSW |
15 |
65,748,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Oc90
|
UTSW |
15 |
65,769,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Oc90
|
UTSW |
15 |
65,761,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Oc90
|
UTSW |
15 |
65,750,650 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4018:Oc90
|
UTSW |
15 |
65,759,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4515:Oc90
|
UTSW |
15 |
65,764,242 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4700:Oc90
|
UTSW |
15 |
65,753,354 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4828:Oc90
|
UTSW |
15 |
65,753,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Oc90
|
UTSW |
15 |
65,755,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5320:Oc90
|
UTSW |
15 |
65,754,457 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5727:Oc90
|
UTSW |
15 |
65,753,388 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5837:Oc90
|
UTSW |
15 |
65,748,295 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6086:Oc90
|
UTSW |
15 |
65,761,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Oc90
|
UTSW |
15 |
65,761,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Oc90
|
UTSW |
15 |
65,753,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Oc90
|
UTSW |
15 |
65,761,557 (GRCm39) |
nonsense |
probably null |
|
|
R9364:Oc90
|
UTSW |
15 |
65,761,437 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9554:Oc90
|
UTSW |
15 |
65,761,437 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9631:Oc90
|
UTSW |
15 |
65,769,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Oc90
|
UTSW |
15 |
65,748,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation