Mutagenetix > Incidental Mutation

Incidental Mutation 'R9364:Oc90'

708861

Institutional Source

Beutler Lab

Gene Symbol

Oc90

Ensembl Gene

ENSMUSG00000015001

Gene Name

otoconin 90

Synonyms

PLA2L, Ocn-95, Pla2ll

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9364 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65747902-65784246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65761437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 194 (P194S)

Ref Sequence

ENSEMBL: ENSMUSP00000062865 (fasta)

Gene Model

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

AlphaFold

Q9Z0L3

Predicted Effect

probably benign
Transcript: ENSMUST00000060522
AA Change: P194S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: P194S

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: P194S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: P194S

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

SMART Domains

Protein: ENSMUSP00000114254
Gene: ENSMUSG00000015001
AA Change: P71S

Domain	Start	End	E-Value	Type
internal_repeat_1	2	67	2.77e-7	PROSPERO
PA2c	159	274	3.5e-15	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: P177S

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Ccdc136	C	T	6: 29,405,960 (GRCm39)	A102V	probably damaging	Het
Ccn4	G	A	15: 66,784,900 (GRCm39)	R191K	probably benign	Het
Ccnyl1	A	G	1: 64,753,750 (GRCm39)	Y187C	probably damaging	Het
Copa	G	A	1: 171,944,831 (GRCm39)	V882I	probably benign	Het
Cyp17a1	C	T	19: 46,657,165 (GRCm39)	R361H	probably damaging	Het
Ddx49	T	C	8: 70,746,226 (GRCm39)	T459A	probably benign	Het
Depdc5	A	G	5: 33,122,076 (GRCm39)	N1133S	probably benign	Het
Dnajc18	T	C	18: 35,808,260 (GRCm39)	D329G	probably damaging	Het
Dusp16	G	A	6: 134,695,982 (GRCm39)	P283L	probably damaging	Het
Efcab12	A	G	6: 115,814,975 (GRCm39)	V40A	probably benign	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Fam120b	G	A	17: 15,626,020 (GRCm39)	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,308,353 (GRCm39)	T9I	probably benign	Het
Hivep1	G	A	13: 42,308,251 (GRCm39)	D164N	possibly damaging	Het
Klf13	T	A	7: 63,574,609 (GRCm39)		probably benign	Het
Lrrc47	T	C	4: 154,100,398 (GRCm39)	S325P	possibly damaging	Het
Mast3	C	T	8: 71,238,826 (GRCm39)	V493M	probably damaging	Het
Med22	T	C	2: 26,795,821 (GRCm39)	T200A	probably benign	Het
Mettl15	T	A	2: 108,961,960 (GRCm39)	Q216H	probably benign	Het
Mmel1	A	G	4: 154,976,967 (GRCm39)	D561G	probably null	Het
Ms4a4a	G	A	19: 11,367,708 (GRCm39)	M191I	probably benign	Het
Mtcl3	G	A	10: 29,072,775 (GRCm39)	R689Q	probably damaging	Het
Myh11	T	A	16: 14,018,580 (GRCm39)	N1922I		Het
Myo7b	T	C	18: 32,133,413 (GRCm39)	I371V	probably benign	Het
Myo9b	T	C	8: 71,808,483 (GRCm39)	S1697P	probably damaging	Het
Neurod4	T	C	10: 130,106,840 (GRCm39)	T145A	probably benign	Het
Nfx1	T	C	4: 41,023,756 (GRCm39)	V1055A	probably benign	Het
Ntng1	C	T	3: 110,042,680 (GRCm39)	A49T	probably damaging	Het
Opcml	A	C	9: 28,814,624 (GRCm39)	N292T	probably damaging	Het
Oplah	A	G	15: 76,193,787 (GRCm39)	S57P	probably benign	Het
Or1x6	T	A	11: 50,939,223 (GRCm39)	Y96*	probably null	Het
Or2a12	T	A	6: 42,904,534 (GRCm39)	I123N	probably damaging	Het
Or2aj4	T	A	16: 19,384,722 (GRCm39)	I304F	possibly damaging	Het
Or8k3b	A	T	2: 86,520,575 (GRCm39)	V248D	possibly damaging	Het
Pdzd8	A	T	19: 59,333,574 (GRCm39)	L149Q	probably damaging	Het
Pid1	A	G	1: 84,137,032 (GRCm39)	V33A	probably benign	Het
Prpsap1	A	G	11: 116,385,015 (GRCm39)		probably benign	Het
R3hdml	T	C	2: 163,334,535 (GRCm39)	W42R	probably benign	Het
Rnase6	A	T	14: 51,367,862 (GRCm39)	N85Y	possibly damaging	Het
Scn3a	T	A	2: 65,291,596 (GRCm39)	M1717L	possibly damaging	Het
Setbp1	C	T	18: 78,826,599 (GRCm39)	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,253,006 (GRCm39)	T389A	probably benign	Het
Sh2d4a	G	A	8: 68,747,018 (GRCm39)	G82D	probably damaging	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Slc5a11	C	T	7: 122,868,324 (GRCm39)	R505W	probably damaging	Het
Slx4	C	A	16: 3,805,820 (GRCm39)	M577I	probably benign	Het
Tarbp1	C	T	8: 127,177,462 (GRCm39)	V737I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem100	A	T	11: 89,926,533 (GRCm39)	E120V	probably damaging	Het
Trim72	C	T	7: 127,609,173 (GRCm39)	T325M	possibly damaging	Het
Trpc2	G	A	7: 101,739,819 (GRCm39)	G581D	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubn1	T	C	16: 4,888,492 (GRCm39)	S154P	unknown	Het
Uchl1	T	A	5: 66,833,649 (GRCm39)	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,403,989 (GRCm39)	M1K	probably null	Het
Zfp429	T	A	13: 67,538,531 (GRCm39)	K304N	probably benign	Het
Zfp618	A	G	4: 63,036,824 (GRCm39)	N375D	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp78	A	T	7: 6,382,354 (GRCm39)	D468V	probably benign	Het
Zfp809	A	C	9: 22,150,394 (GRCm39)	Y297S	probably damaging	Het

Other mutations in Oc90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Oc90	APN	15	65,761,440 (GRCm39)	missense	probably benign	0.00
IGL01746:Oc90	APN	15	65,761,250 (GRCm39)	splice site	probably benign
IGL02101:Oc90	APN	15	65,769,638 (GRCm39)	missense	probably damaging	1.00
IGL02175:Oc90	APN	15	65,755,674 (GRCm39)	missense	possibly damaging	0.96
IGL02691:Oc90	APN	15	65,754,410 (GRCm39)	missense	probably damaging	1.00
IGL02947:Oc90	APN	15	65,759,983 (GRCm39)	missense	probably benign	0.16
R0010:Oc90	UTSW	15	65,748,397 (GRCm39)	missense	probably damaging	1.00
R0325:Oc90	UTSW	15	65,769,514 (GRCm39)	critical splice donor site	probably null
R1466:Oc90	UTSW	15	65,769,569 (GRCm39)	missense	probably damaging	1.00
R1466:Oc90	UTSW	15	65,769,569 (GRCm39)	missense	probably damaging	1.00
R1496:Oc90	UTSW	15	65,748,370 (GRCm39)	missense	probably damaging	1.00
R1584:Oc90	UTSW	15	65,769,569 (GRCm39)	missense	probably damaging	1.00
R1837:Oc90	UTSW	15	65,761,529 (GRCm39)	missense	probably damaging	1.00
R3552:Oc90	UTSW	15	65,750,650 (GRCm39)	missense	possibly damaging	0.81
R4018:Oc90	UTSW	15	65,759,457 (GRCm39)	missense	probably benign	0.00
R4515:Oc90	UTSW	15	65,764,242 (GRCm39)	missense	probably damaging	0.96
R4700:Oc90	UTSW	15	65,753,354 (GRCm39)	missense	possibly damaging	0.91
R4828:Oc90	UTSW	15	65,753,408 (GRCm39)	missense	probably damaging	1.00
R5135:Oc90	UTSW	15	65,755,679 (GRCm39)	missense	probably benign	0.00
R5320:Oc90	UTSW	15	65,754,457 (GRCm39)	missense	probably benign	0.06
R5727:Oc90	UTSW	15	65,753,388 (GRCm39)	missense	possibly damaging	0.61
R5837:Oc90	UTSW	15	65,748,295 (GRCm39)	missense	probably benign	0.03
R6086:Oc90	UTSW	15	65,761,560 (GRCm39)	missense	probably damaging	1.00
R6807:Oc90	UTSW	15	65,761,463 (GRCm39)	missense	probably damaging	1.00
R8499:Oc90	UTSW	15	65,753,405 (GRCm39)	missense	probably damaging	1.00
R9213:Oc90	UTSW	15	65,761,557 (GRCm39)	nonsense	probably null
R9554:Oc90	UTSW	15	65,761,437 (GRCm39)	missense	probably benign	0.09
R9631:Oc90	UTSW	15	65,769,629 (GRCm39)	missense	probably damaging	1.00
Z1177:Oc90	UTSW	15	65,748,196 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCTAGGCAACAGTGTTG -3'
(R):5'- AGAGCAAGTTTGGACAGCCC -3'

Sequencing Primer
(F):5'- AACAGTGTTGCAGCCTTCC -3'
(R):5'- TTGCCTACTGGGATTCCAAG -3'

Posted On

2022-04-18