Incidental Mutation 'IGL02947:Oc90'
ID |
364769 |
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 # |
IGL02947
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
65747902-65784246 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65759983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 212
(K212R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062865
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060522]
[ENSMUST00000079776]
|
AlphaFold |
Q9Z0L3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060522
AA Change: K212R
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000062865 Gene: ENSMUSG00000015001 AA Change: K212R
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
|
SMART Domains |
Protein: ENSMUSP00000078709 Gene: ENSMUSG00000015001
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 |
probably benign
Transcript: ENSMUST00000135442
|
SMART Domains |
Protein: ENSMUSP00000114254 Gene: ENSMUSG00000015001
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 |
unknown
Transcript: ENSMUST00000156996
AA Change: K195R
|
SMART Domains |
Protein: ENSMUSP00000121227 Gene: ENSMUSG00000015001 AA Change: K195R
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,049,957 (GRCm39) |
V13A |
probably benign |
Het |
Atp8b5 |
T |
A |
4: 43,305,774 (GRCm39) |
I106K |
possibly damaging |
Het |
Cdh15 |
T |
C |
8: 123,592,111 (GRCm39) |
S633P |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,723,134 (GRCm39) |
T228A |
probably benign |
Het |
Cfap90 |
T |
A |
13: 68,759,312 (GRCm39) |
F95L |
probably benign |
Het |
Chrng |
A |
G |
1: 87,137,606 (GRCm39) |
|
probably null |
Het |
Coprs |
T |
C |
8: 13,935,782 (GRCm39) |
E79G |
probably damaging |
Het |
Cpb2 |
A |
C |
14: 75,520,758 (GRCm39) |
Y391S |
probably damaging |
Het |
Cyp2j8 |
A |
T |
4: 96,358,815 (GRCm39) |
I368N |
probably damaging |
Het |
Ddah1 |
T |
C |
3: 145,464,842 (GRCm39) |
F76L |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,261,514 (GRCm39) |
T573A |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,835,411 (GRCm39) |
M375L |
probably benign |
Het |
Fasn |
T |
C |
11: 120,706,502 (GRCm39) |
E994G |
probably damaging |
Het |
Fem1a |
T |
A |
17: 56,565,640 (GRCm39) |
C578S |
probably benign |
Het |
Garnl3 |
A |
G |
2: 32,936,606 (GRCm39) |
S188P |
probably damaging |
Het |
Gpn3 |
T |
C |
5: 122,516,551 (GRCm39) |
V60A |
possibly damaging |
Het |
Hnrnpr |
A |
G |
4: 136,043,690 (GRCm39) |
D59G |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,145,094 (GRCm39) |
E815V |
probably damaging |
Het |
Itga9 |
C |
T |
9: 118,487,601 (GRCm39) |
T228M |
probably damaging |
Het |
Kpna7 |
T |
C |
5: 144,930,884 (GRCm39) |
I320M |
probably damaging |
Het |
Lnpep |
T |
C |
17: 17,791,234 (GRCm39) |
T437A |
probably damaging |
Het |
Ltf |
C |
T |
9: 110,868,015 (GRCm39) |
T48I |
probably benign |
Het |
Masp1 |
T |
G |
16: 23,313,476 (GRCm39) |
D153A |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,373 (GRCm39) |
R241* |
probably null |
Het |
Msantd4 |
T |
A |
9: 4,384,787 (GRCm39) |
S171T |
probably damaging |
Het |
Nos1 |
G |
A |
5: 118,081,382 (GRCm39) |
V1229M |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,179,246 (GRCm39) |
S55P |
probably benign |
Het |
Or2a12 |
A |
G |
6: 42,904,830 (GRCm39) |
I222V |
probably benign |
Het |
Or5t15 |
C |
T |
2: 86,681,130 (GRCm39) |
R304K |
probably benign |
Het |
Or6c202 |
C |
A |
10: 128,996,439 (GRCm39) |
C138F |
probably damaging |
Het |
Prr12 |
T |
A |
7: 44,697,980 (GRCm39) |
Q645L |
unknown |
Het |
Psmd9 |
A |
G |
5: 123,384,278 (GRCm39) |
I145V |
probably benign |
Het |
Rbks |
T |
C |
5: 31,817,407 (GRCm39) |
I121V |
probably benign |
Het |
Rnase2b |
A |
T |
14: 51,400,264 (GRCm39) |
Y115F |
probably damaging |
Het |
Sarnp |
A |
G |
10: 128,675,723 (GRCm39) |
E78G |
probably benign |
Het |
Sltm |
A |
G |
9: 70,498,946 (GRCm39) |
S1007G |
probably benign |
Het |
Spata31d1c |
T |
A |
13: 65,182,759 (GRCm39) |
Y100* |
probably null |
Het |
Srrm2 |
T |
C |
17: 24,029,720 (GRCm39) |
S222P |
probably benign |
Het |
Sult3a1 |
G |
A |
10: 33,740,046 (GRCm39) |
R35Q |
possibly damaging |
Het |
Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
Tmem53 |
C |
T |
4: 117,125,285 (GRCm39) |
Q111* |
probably null |
Het |
Togaram1 |
T |
A |
12: 65,068,274 (GRCm39) |
V1709D |
probably damaging |
Het |
Trpm3 |
A |
T |
19: 22,878,483 (GRCm39) |
D628V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,544,838 (GRCm39) |
K31009* |
probably null |
Het |
Vldlr |
A |
G |
19: 27,217,120 (GRCm39) |
I58V |
probably benign |
Het |
Vmn1r4 |
T |
C |
6: 56,934,231 (GRCm39) |
F245S |
probably benign |
Het |
Vrtn |
T |
A |
12: 84,695,258 (GRCm39) |
S3T |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,242,476 (GRCm39) |
|
probably null |
Het |
Wrnip1 |
T |
A |
13: 33,006,053 (GRCm39) |
Y632N |
probably damaging |
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 |
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 |
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 |
2015-12-18 |