Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Oc90'

332880

Institutional Source

Beutler Lab

Gene Symbol

Oc90

Ensembl Gene

ENSMUSG00000015001

Gene Name

otoconin 90

Synonyms

Pla2ll, PLA2L, Ocn-95

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4515 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

65876053-65912397 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65892393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 138 (L138P)

Ref Sequence

ENSEMBL: ENSMUSP00000062865 (fasta)

Gene Model

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

AlphaFold

Q9Z0L3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060522
AA Change: L138P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: L138P

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

possibly damaging
Transcript: ENSMUST00000079776
AA Change: L138P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: L138P

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

unknown
Transcript: ENSMUST00000135442
AA Change: L15P

SMART Domains

Protein: ENSMUSP00000114254
Gene: ENSMUSG00000015001
AA Change: L15P

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: L121P

SMART Domains

Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: L121P

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

0.2560

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	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
R4018:Oc90	UTSW	15	65887608	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- GCTTCAATCATTTCTCAAGCTGGC -3'
(R):5'- GTGCCAGATACCATCCAGAC -3'

Sequencing Primer
(F):5'- CATAACATGTCTTTGAAGGCGAC -3'
(R):5'- GACATCAGCATGATCTCAGCGTG -3'

Posted On

2015-08-18