Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Oc90'

269017

Institutional Source

Beutler Lab

Gene Symbol

Oc90

Ensembl Gene

ENSMUSG00000015001

Gene Name

otoconin 90

Synonyms

Pla2ll, PLA2L, Ocn-95

MMRRC Submission

040669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R3552 (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 65878801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 365 (Q365R)

Ref Sequence

ENSEMBL: ENSMUSP00000062865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015146] [ENSMUST00000060522] [ENSMUST00000079776]

AlphaFold

Q9Z0L3

Predicted Effect

probably benign
Transcript: ENSMUST00000015146

SMART Domains

Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	226	584	5e-4	SMART
low complexity region	709	720	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060522
AA Change: Q365R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: Q365R

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: Q333R

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: Q333R

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: Q209R

SMART Domains

Protein: ENSMUSP00000114254
Gene: ENSMUSG00000015001
AA Change: Q209R

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: Q333R

SMART Domains

Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: Q333R

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

0.0640

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ATGAGACTGATGAAGGTGTGCC -3'
(R):5'- TTAATGCTGTGTCTGAGGCAGC -3'

Sequencing Primer
(F):5'- TGCCAGGAGAAGTGTCTGTAACTC -3'
(R):5'- TCCTGGTGCTGAACATGAC -3'

Posted On

2015-02-19