Incidental Mutation 'R4018:Oc90'
| ID |
312037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oc90
|
| Ensembl Gene |
ENSMUSG00000015001 |
| Gene Name |
otoconin 90 |
| Synonyms |
PLA2L, Ocn-95, Pla2ll |
| MMRRC Submission |
040848-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R4018 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
65747902-65784246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65759457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 232
(D232G)
|
| 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: D232G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: D232G
| 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 |
probably benign
Transcript: ENSMUST00000156996
|
| SMART Domains |
Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
| 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 |
|
| Meta Mutation Damage Score |
0.0699 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
| Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Endou |
T |
A |
15: 97,616,818 (GRCm39) |
K235M |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
| Il4 |
T |
A |
11: 53,504,806 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
| Maml1 |
A |
T |
11: 50,156,611 (GRCm39) |
N521K |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,526 (GRCm39) |
Y482H |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
| Prkca |
T |
A |
11: 107,830,428 (GRCm39) |
I221F |
probably damaging |
Het |
| Rab3c |
T |
A |
13: 110,220,728 (GRCm39) |
K144N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
| Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGAAATTTAAGATTCCTGCGC -3'
(R):5'- TACAATGCAGTAGGCTGGC -3'
Sequencing Primer
(F):5'- AAGATTCCTGCGCATTAGTGTC -3'
(R):5'- ATGCCAGAAAGTTGCATGTTGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation