Mutagenetix > Incidental Mutations

Incidental Mutation 'R4018:Oc90'

312037

Institutional Source

Beutler Lab

Gene Symbol

Oc90

Ensembl Gene

ENSMUSG00000015001

Gene Name

otoconin 90

Synonyms

Pla2ll, PLA2L, Ocn-95

MMRRC Submission

040848-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65876053-65912397 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65887608 bp

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]

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: 53,523,191	K319R	probably benign	Het
Brip1	G	T	11: 86,138,851	T619K	possibly damaging	Het
Cd300ld2	G	T	11: 115,012,504		probably benign	Het
Cd300lg	A	G	11: 102,041,594	R2G	probably damaging	Het
Celsr2	C	T	3: 108,394,965	V2616I	possibly damaging	Het
Edem3	C	T	1: 151,804,826		probably benign	Het
Endou	T	A	15: 97,718,937	K235M	probably damaging	Het
Gm5431	T	A	11: 48,889,168	N309I	probably damaging	Het
Il4	T	A	11: 53,613,979		probably benign	Het
Iws1	C	A	18: 32,070,152	S27*	probably null	Het
Kdm5d	T	C	Y: 910,441		probably benign	Het
Ldb3	T	C	14: 34,552,171		probably benign	Het
Llgl2	A	G	11: 115,847,612	T284A	probably benign	Het
Maml1	A	T	11: 50,265,784	N521K	probably damaging	Het
Mlxipl	T	C	5: 135,132,672	Y482H	probably damaging	Het
Notch2	G	T	3: 98,104,565	C633F	probably damaging	Het
Olfr1453	T	C	19: 13,027,825	E168G	probably benign	Het
Polr2a	T	C	11: 69,735,059	Y1717C	unknown	Het
Prkca	T	A	11: 107,939,602	I221F	probably damaging	Het
Rab3c	T	A	13: 110,084,194	K144N	probably damaging	Het
Ryr2	T	A	13: 11,918,414	N57I	probably damaging	Het
Scyl3	A	G	1: 163,936,499	T145A	possibly damaging	Het
Sept4	G	A	11: 87,585,121	R162Q	probably damaging	Het
Slc25a39	A	T	11: 102,405,024	L127H	probably damaging	Het
Slc9a9	T	C	9: 94,685,163	V95A	probably benign	Het
Tsc2	T	C	17: 24,625,281	I279V	probably damaging	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r6	T	C	3: 64,556,472	I314V	probably benign	Het
Wdr66	A	G	5: 123,322,454	I1160V	probably benign	Het

Other mutations in Oc90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Oc90	APN	15	65889591	missense	probably benign	0.00
IGL01746:Oc90	APN	15	65889401	splice site	probably benign
IGL02101:Oc90	APN	15	65897789	missense	probably damaging	1.00
IGL02175:Oc90	APN	15	65883825	missense	possibly damaging	0.96
IGL02691:Oc90	APN	15	65882561	missense	probably damaging	1.00
IGL02947:Oc90	APN	15	65888134	missense	probably benign	0.16
R0010:Oc90	UTSW	15	65876548	missense	probably damaging	1.00
R0325:Oc90	UTSW	15	65897665	critical splice donor site	probably null
R1466:Oc90	UTSW	15	65897720	missense	probably damaging	1.00
R1466:Oc90	UTSW	15	65897720	missense	probably damaging	1.00
R1496:Oc90	UTSW	15	65876521	missense	probably damaging	1.00
R1584:Oc90	UTSW	15	65897720	missense	probably damaging	1.00
R1837:Oc90	UTSW	15	65889680	missense	probably damaging	1.00
R3552:Oc90	UTSW	15	65878801	missense	possibly damaging	0.81
R4515:Oc90	UTSW	15	65892393	missense	probably damaging	0.96
R4700:Oc90	UTSW	15	65881505	missense	possibly damaging	0.91
R4828:Oc90	UTSW	15	65881559	missense	probably damaging	1.00
R5135:Oc90	UTSW	15	65883830	missense	probably benign	0.00
R5320:Oc90	UTSW	15	65882608	missense	probably benign	0.06
R5727:Oc90	UTSW	15	65881539	missense	possibly damaging	0.61
R5837:Oc90	UTSW	15	65876446	missense	probably benign	0.03
R6086:Oc90	UTSW	15	65889711	missense	probably damaging	1.00
R6807:Oc90	UTSW	15	65889614	missense	probably damaging	1.00
Z1177:Oc90	UTSW	15	65876347	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