Incidental Mutation 'IGL02175:Oc90'
| ID |
283065 |
| 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: 0.066)
|
| Stock # |
IGL02175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
65747902-65784246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65755674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 224
(S224R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060522]
[ENSMUST00000079776]
|
| AlphaFold |
Q9Z0L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060522
AA Change: S257R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: S257R
| 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 benign
Transcript: ENSMUST00000079776
AA Change: S224R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: S224R
| 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 |
possibly damaging
Transcript: ENSMUST00000135442
AA Change: S101R
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114254
Gene: ENSMUSG00000015001
AA Change: S101R
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
67 |
2.77e-7 |
PROSPERO |
|
PA2c
|
159 |
274 |
3.5e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147776
|
| SMART Domains |
Protein: ENSMUSP00000118937
Gene: ENSMUSG00000015001
| Domain | Start | End | E-Value | Type |
|---|
|
PA2c
|
122 |
220 |
8.1e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156996
AA Change: S224R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: S224R
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
| Egr1 |
T |
C |
18: 34,996,108 (GRCm39) |
S297P |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,718,031 (GRCm39) |
W53R |
probably damaging |
Het |
| Med19 |
T |
A |
2: 84,509,007 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
| Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
| Ndc80 |
A |
C |
17: 71,818,414 (GRCm39) |
M314R |
probably benign |
Het |
| Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
| Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,419 (GRCm39) |
V579A |
probably damaging |
Het |
| Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,731,955 (GRCm39) |
|
probably null |
Het |
| Sik2 |
G |
A |
9: 50,806,909 (GRCm39) |
Q834* |
probably null |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
| Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 155,940,752 (GRCm39) |
S353P |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
| Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
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 |
|
|
IGL02101:Oc90
|
APN |
15 |
65,769,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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