Mutagenetix > Incidental Mutation

Incidental Mutation 'R1466:Oc90'

166088

Institutional Source

Beutler Lab

Gene Symbol

Oc90

Ensembl Gene

ENSMUSG00000015001

Gene Name

otoconin 90

Synonyms

Pla2ll, PLA2L, Ocn-95

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65876053-65912397 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65897720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 96 (Y96F)

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: Y96F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: Y96F

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: Y96F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: Y96F

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: ENSMUST00000156996
AA Change: Y79F

SMART Domains

Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: Y79F

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

0.8547

Coding Region Coverage

1x: 99.4%
3x: 97.9%
10x: 90.8%
20x: 71.5%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,515,410 (GRCm38)	A71V	probably damaging	Het
Adamts12	T	C	15: 11,311,359 (GRCm38)	F1234S	probably benign	Het
Ahnak	A	G	19: 9,015,875 (GRCm38)	D4841G	probably damaging	Het
Akap13	T	C	7: 75,729,049 (GRCm38)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337 (GRCm38)		probably null	Het
Arhgef17	G	T	7: 100,929,659 (GRCm38)	P694Q	possibly damaging	Het
Arrdc1	T	C	2: 24,925,795 (GRCm38)	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065 (GRCm38)	Y2250H	probably damaging	Het
Aspg	A	G	12: 112,121,852 (GRCm38)	N385D	probably benign	Het
Atxn3	G	A	12: 101,926,499 (GRCm38)	R319C	possibly damaging	Het
BC005561	T	A	5: 104,518,257 (GRCm38)	I215N	probably damaging	Het
Brca2	G	A	5: 150,552,258 (GRCm38)	A2478T	probably damaging	Het
C1s1	C	T	6: 124,531,131 (GRCm38)	C633Y	probably damaging	Het
C8g	C	T	2: 25,500,216 (GRCm38)	A6T	probably benign	Het
Cbl	A	T	9: 44,154,244 (GRCm38)	V706E	probably benign	Het
Cfhr1	C	T	1: 139,557,574 (GRCm38)	E45K	probably benign	Het
Chd7	G	A	4: 8,840,561 (GRCm38)		probably null	Het
Chek1	G	T	9: 36,725,857 (GRCm38)	A2E	probably damaging	Het
Cntnap1	C	A	11: 101,180,360 (GRCm38)	F366L	probably damaging	Het
Corin	C	T	5: 72,302,790 (GRCm38)		probably null	Het
Crb2	T	C	2: 37,783,388 (GRCm38)	Y99H	probably damaging	Het
Ctdspl2	G	A	2: 122,003,929 (GRCm38)	R332K	probably benign	Het
Cym	G	A	3: 107,213,458 (GRCm38)	T277I	probably damaging	Het
Cyp2d11	C	T	15: 82,391,735 (GRCm38)	C215Y	probably benign	Het
Dido1	G	A	2: 180,662,328 (GRCm38)	P1261L	probably damaging	Het
Dnah10	T	A	5: 124,763,096 (GRCm38)	Y1265N	probably benign	Het
Dtx3l	G	A	16: 35,932,728 (GRCm38)	L503F	probably damaging	Het
Efhb	A	G	17: 53,437,178 (GRCm38)	F462L	probably damaging	Het
Enpep	T	A	3: 129,319,448 (GRCm38)	T203S	probably damaging	Het
Fat3	A	C	9: 16,375,482 (GRCm38)	V915G	probably damaging	Het
Fbln7	A	G	2: 128,877,429 (GRCm38)	T49A	probably benign	Het
Fcho1	C	T	8: 71,712,560 (GRCm38)	A418T	probably benign	Het
Fgf14	T	A	14: 124,676,539 (GRCm38)	K60M	probably benign	Het
Galnt4	A	G	10: 99,108,709 (GRCm38)	R99G	probably benign	Het
Gimap4	C	A	6: 48,691,282 (GRCm38)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm38)	T6I	probably damaging	Het
Gm10110	A	T	14: 89,898,075 (GRCm38)		noncoding transcript	Het
Gm4884	A	G	7: 41,043,128 (GRCm38)	K174E	probably damaging	Het
Gm6583	C	T	5: 112,354,764 (GRCm38)	G358D	probably benign	Het
Grip2	A	T	6: 91,788,443 (GRCm38)	D19E	probably damaging	Het
Grk4	T	C	5: 34,694,750 (GRCm38)	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566 (GRCm38)	E220K	probably damaging	Het
Helz2	G	A	2: 181,236,297 (GRCm38)	P903S	probably damaging	Het
Hydin	T	A	8: 110,532,953 (GRCm38)	V2519E	possibly damaging	Het
Ints11	G	A	4: 155,888,110 (GRCm38)		probably null	Het
Kif1a	A	G	1: 93,054,929 (GRCm38)	W718R	possibly damaging	Het
Kif1b	A	T	4: 149,223,252 (GRCm38)	Y839N	probably damaging	Het
Kif20b	T	A	19: 34,950,599 (GRCm38)	V1047D	probably benign	Het
Klhl23	T	C	2: 69,833,888 (GRCm38)	I527T	probably damaging	Het
Klra10	T	C	6: 130,279,431 (GRCm38)	N87D	probably damaging	Het
Klra10	T	A	6: 130,279,315 (GRCm38)	R125S	probably damaging	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,668,576 (GRCm38)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542 (GRCm38)		probably null	Het
Map4k2	G	T	19: 6,341,917 (GRCm38)	W87L	probably damaging	Het
Mccc1	A	G	3: 35,974,286 (GRCm38)	V457A	probably benign	Het
Mdn1	T	A	4: 32,730,788 (GRCm38)	S2886T	probably benign	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Mrpl24	T	A	3: 87,921,928 (GRCm38)	Y21*	probably null	Het
Mrps35	C	T	6: 147,055,984 (GRCm38)	T169M	probably damaging	Het
Mtcl1	T	A	17: 66,380,435 (GRCm38)	D492V	probably damaging	Het
Muc2	A	G	7: 141,748,974 (GRCm38)	Y457C	probably damaging	Het
Muc4	G	A	16: 32,753,595 (GRCm38)	G1157D	probably benign	Het
Myg1	T	A	15: 102,337,390 (GRCm38)	L275Q	probably damaging	Het
Naga	T	A	15: 82,334,788 (GRCm38)	M237L	probably null	Het
Olfr1029	T	A	2: 85,975,995 (GRCm38)	F251I	probably damaging	Het
Olfr103	A	T	17: 37,336,956 (GRCm38)	L92H	probably benign	Het
Olfr1253	C	T	2: 89,752,267 (GRCm38)	C187Y	probably damaging	Het
Olfr46	A	G	7: 140,610,969 (GRCm38)	I268V	probably benign	Het
Olfr522	A	G	7: 140,162,203 (GRCm38)	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494 (GRCm38)	C324S	possibly damaging	Het
Pcdh10	T	G	3: 45,379,974 (GRCm38)	L241R	probably damaging	Het
Pdzrn4	T	C	15: 92,770,537 (GRCm38)	S857P	probably benign	Het
Plec	C	T	15: 76,185,908 (GRCm38)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481 (GRCm38)	V149D	probably benign	Het
Ppef1	C	A	X: 160,625,674 (GRCm38)		probably null	Het
Prkaa1	C	A	15: 5,178,798 (GRCm38)	P507T	probably benign	Het
Ptch1	A	G	13: 63,524,969 (GRCm38)	Y804H	probably benign	Het
R3hdm2	A	G	10: 127,476,690 (GRCm38)	I434V	probably benign	Het
Rfx5	T	A	3: 94,956,303 (GRCm38)	Y88N	probably damaging	Het
Rnase2b	A	T	14: 51,162,839 (GRCm38)	K126*	probably null	Het
Rpl3l	A	G	17: 24,730,871 (GRCm38)	I15V	probably benign	Het
Saal1	G	T	7: 46,702,545 (GRCm38)		probably null	Het
Sbpl	A	C	17: 23,953,254 (GRCm38)	D230E	unknown	Het
Scn10a	T	C	9: 119,666,490 (GRCm38)	Y322C	probably damaging	Het
Sec16a	A	T	2: 26,431,157 (GRCm38)	Y1308N	probably damaging	Het
Sis	A	T	3: 72,932,060 (GRCm38)	D824E	possibly damaging	Het
Slc25a36	A	G	9: 97,080,355 (GRCm38)	F194L	probably damaging	Het
Slc27a4	T	A	2: 29,811,190 (GRCm38)	V331E	probably damaging	Het
Slc7a11	G	T	3: 50,381,073 (GRCm38)		probably null	Het
Slco4c1	A	T	1: 96,841,172 (GRCm38)	S322T	probably damaging	Het
Smarcc2	A	T	10: 128,474,245 (GRCm38)	T376S	probably damaging	Het
Srebf1	C	T	11: 60,200,702 (GRCm38)	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662 (GRCm38)	M1R	probably null	Het
Syp	A	T	X: 7,648,705 (GRCm38)		probably benign	Het
Tas1r2	A	G	4: 139,669,411 (GRCm38)	D687G	probably damaging	Het
Tekt4	A	T	17: 25,472,074 (GRCm38)	Q118L	probably benign	Het
Tph2	T	C	10: 115,079,695 (GRCm38)	N480S	probably benign	Het
Tsc2	A	T	17: 24,608,973 (GRCm38)	M839K	probably damaging	Het
Ttc22	T	C	4: 106,622,780 (GRCm38)	F77S	probably damaging	Het
Uaca	C	T	9: 60,854,321 (GRCm38)	A205V	possibly damaging	Het
Uhmk1	A	T	1: 170,208,653 (GRCm38)		probably null	Het
Usp17lc	A	G	7: 103,418,941 (GRCm38)	H481R	possibly damaging	Het
Vwa3a	A	G	7: 120,768,165 (GRCm38)	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,238,895 (GRCm38)	T140I	probably damaging	Het
Zfp704	G	T	3: 9,447,348 (GRCm38)	T288N	possibly damaging	Het
Zfp93	T	C	7: 24,276,096 (GRCm38)	V502A	probably damaging	Het
Zzef1	C	T	11: 72,924,679 (GRCm38)	P2942S	probably damaging	Het

Other mutations in Oc90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Oc90	APN	15	65,889,591 (GRCm38)	missense	probably benign	0.00
IGL01746:Oc90	APN	15	65,889,401 (GRCm38)	splice site	probably benign
IGL02101:Oc90	APN	15	65,897,789 (GRCm38)	missense	probably damaging	1.00
IGL02175:Oc90	APN	15	65,883,825 (GRCm38)	missense	possibly damaging	0.96
IGL02691:Oc90	APN	15	65,882,561 (GRCm38)	missense	probably damaging	1.00
IGL02947:Oc90	APN	15	65,888,134 (GRCm38)	missense	probably benign	0.16
R0010:Oc90	UTSW	15	65,876,548 (GRCm38)	missense	probably damaging	1.00
R0325:Oc90	UTSW	15	65,897,665 (GRCm38)	critical splice donor site	probably null
R1466:Oc90	UTSW	15	65,897,720 (GRCm38)	missense	probably damaging	1.00
R1496:Oc90	UTSW	15	65,876,521 (GRCm38)	missense	probably damaging	1.00
R1584:Oc90	UTSW	15	65,897,720 (GRCm38)	missense	probably damaging	1.00
R1837:Oc90	UTSW	15	65,889,680 (GRCm38)	missense	probably damaging	1.00
R3552:Oc90	UTSW	15	65,878,801 (GRCm38)	missense	possibly damaging	0.81
R4018:Oc90	UTSW	15	65,887,608 (GRCm38)	missense	probably benign	0.00
R4515:Oc90	UTSW	15	65,892,393 (GRCm38)	missense	probably damaging	0.96
R4700:Oc90	UTSW	15	65,881,505 (GRCm38)	missense	possibly damaging	0.91
R4828:Oc90	UTSW	15	65,881,559 (GRCm38)	missense	probably damaging	1.00
R5135:Oc90	UTSW	15	65,883,830 (GRCm38)	missense	probably benign	0.00
R5320:Oc90	UTSW	15	65,882,608 (GRCm38)	missense	probably benign	0.06
R5727:Oc90	UTSW	15	65,881,539 (GRCm38)	missense	possibly damaging	0.61
R5837:Oc90	UTSW	15	65,876,446 (GRCm38)	missense	probably benign	0.03
R6086:Oc90	UTSW	15	65,889,711 (GRCm38)	missense	probably damaging	1.00
R6807:Oc90	UTSW	15	65,889,614 (GRCm38)	missense	probably damaging	1.00
R8499:Oc90	UTSW	15	65,881,556 (GRCm38)	missense	probably damaging	1.00
R9213:Oc90	UTSW	15	65,889,708 (GRCm38)	nonsense	probably null
R9364:Oc90	UTSW	15	65,889,588 (GRCm38)	missense	probably benign	0.09
R9554:Oc90	UTSW	15	65,889,588 (GRCm38)	missense	probably benign	0.09
R9631:Oc90	UTSW	15	65,897,780 (GRCm38)	missense	probably damaging	1.00
Z1177:Oc90	UTSW	15	65,876,347 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAAGAGATGAGTACCAGTTGCCC -3'
(R):5'- AGCTGCATTTGACTGACTACACCG -3'

Sequencing Primer
(F):5'- AGATGAGTACCAGTTGCCCTTTAG -3'
(R):5'- GGAAGAAACTCCTCATGCACTTG -3'

Posted On

2014-03-28