Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02691:Oc90'

303749

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

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02691

Quality Score

Status

Chromosome

Chromosomal Location

65876053-65912397 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65882561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 252 (S252P)

Ref Sequence

ENSEMBL: ENSMUSP00000078709 (fasta)

Gene Model

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

AlphaFold

Q9Z0L3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060522
AA Change: S285P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: S285P

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 damaging
Transcript: ENSMUST00000079776
AA Change: S252P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: S252P

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
AA Change: S129P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114254
Gene: ENSMUSG00000015001
AA Change: S129P

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
AA Change: S252P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: S252P

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,761,664	S40P	probably benign	Het
Actl9	G	T	17: 33,433,118	V51L	probably damaging	Het
Adcy6	A	T	15: 98,604,304	F143Y	probably damaging	Het
Agps	A	T	2: 75,891,860	I465F	probably benign	Het
Armc3	T	A	2: 19,235,484	F17L	probably damaging	Het
Arsk	A	C	13: 76,074,950	M176R	probably damaging	Het
Asz1	G	A	6: 18,076,557	T212I	probably damaging	Het
Atp6v1a	A	G	16: 44,111,619	I102T	probably damaging	Het
Bpifb6	T	A	2: 153,902,645	L2Q	unknown	Het
Cad	A	G	5: 31,055,294	Y45C	probably damaging	Het
Ccdc93	A	G	1: 121,486,613	D451G	possibly damaging	Het
Cenpj	A	G	14: 56,552,090	I834T	probably benign	Het
Cyp2j12	C	T	4: 96,132,994		probably null	Het
Dhx8	G	A	11: 101,752,004		probably benign	Het
Dync1i1	A	G	6: 5,800,767		probably benign	Het
Ell2	T	A	13: 75,756,486	D99E	probably damaging	Het
Enpp1	G	T	10: 24,711,892	P34T	probably damaging	Het
Fras1	T	A	5: 96,744,705	V2888E	possibly damaging	Het
Gm10451	T	C	12: 76,451,299		noncoding transcript	Het
Gmfg	A	G	7: 28,444,870	Y40C	probably damaging	Het
Gnal	T	C	18: 67,222,675	I369T	probably damaging	Het
Gzmn	T	C	14: 56,166,913	T156A	probably benign	Het
H2-DMb2	A	T	17: 34,147,858	H88L	probably benign	Het
Ighv7-3	T	C	12: 114,153,396	T49A	probably benign	Het
Jakmip3	C	T	7: 139,026,844	Q450*	probably null	Het
Klhl20	A	T	1: 161,106,874		probably benign	Het
Klk6	A	G	7: 43,828,500	T99A	probably benign	Het
Lhx3	A	G	2: 26,203,085	C118R	probably damaging	Het
Mapkbp1	T	C	2: 119,973,174		probably benign	Het
Naa15	A	G	3: 51,451,326	E294G	probably damaging	Het
Nfia	C	T	4: 98,081,808	Q373*	probably null	Het
Notch2	C	A	3: 98,135,607	Y1429*	probably null	Het
Olfr1084	T	C	2: 86,638,838	Y290C	probably damaging	Het
Olfr681	A	G	7: 105,122,131	I225V	probably damaging	Het
Pde3b	T	A	7: 114,508,085		probably benign	Het
Pdss1	G	A	2: 22,915,241	V211I	probably benign	Het
Phactr1	G	T	13: 43,077,737	M226I	probably benign	Het
Phf11c	A	G	14: 59,384,787	S259P	probably damaging	Het
Phf20l1	A	G	15: 66,604,864	N269S	probably damaging	Het
Piezo1	A	G	8: 122,501,949	V229A	possibly damaging	Het
Plcb2	T	C	2: 118,710,963	K997R	probably benign	Het
Ppm1m	A	T	9: 106,195,369	V449E	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rgs14	A	G	13: 55,379,023		probably null	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Scamp5	G	T	9: 57,451,377	R39S	probably damaging	Het
Slc5a6	C	T	5: 31,042,174	V15I	probably damaging	Het
Snx25	A	T	8: 46,105,265	V235E	possibly damaging	Het
Tdrd1	G	T	19: 56,843,852	E400D	probably damaging	Het
Tln1	T	C	4: 43,539,544	R1593G	probably benign	Het
Trdv2-2	T	C	14: 53,961,582	F110L	possibly damaging	Het
Ush2a	A	C	1: 188,734,752	Y2871S	probably damaging	Het
Vars2	A	C	17: 35,660,248	L592R	probably damaging	Het
Vipr2	T	A	12: 116,136,229	C239S	probably benign	Het
Vmn1r200	A	T	13: 22,395,258	D68V	probably damaging	Het
Vmn1r7	A	T	6: 57,024,388	S296T	probably benign	Het
Vmn2r95	T	C	17: 18,451,858	I619T	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
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
R9213:Oc90	UTSW	15	65889708	nonsense	probably null
R9364:Oc90	UTSW	15	65889588	missense	probably benign	0.09
R9554:Oc90	UTSW	15	65889588	missense	probably benign	0.09
R9631:Oc90	UTSW	15	65897780	missense	probably damaging	1.00
Z1177:Oc90	UTSW	15	65876347	missense	probably damaging	1.00

Posted On

2015-04-16