Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Oc90'

List |< first << previous [record 22 of 36] next >> last >|

283065

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oc90

Ensembl Gene

ENSMUSG00000015001

Gene Name

otoconin 90

Synonyms

Pla2ll, PLA2L, Ocn-95

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

65876053-65912397 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 65883825 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 224 (S224R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060522] [ENSMUST00000079776]

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: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	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
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
R4018:Oc90	UTSW	15	65887608	missense	probably benign	0.00
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
R8499:Oc90	UTSW	15	65881556	missense	probably damaging	1.00
Z1177:Oc90	UTSW	15	65876347	missense	probably damaging	1.00

Posted On

2015-04-16