Mutagenetix > Incidental Mutations

Incidental Mutation 'R7609:Otop3'

588507

Institutional Source

Beutler Lab

Gene Symbol

Otop3

Ensembl Gene

ENSMUSG00000018862

Gene Name

otopetrin 3

Synonyms

2310011E08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7609 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115334731-115346927 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115339720 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 141 (I141T)

Ref Sequence

ENSEMBL: ENSMUSP00000102153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000106543]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019006
AA Change: I141T

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: I141T

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	102	120	N/A	INTRINSIC
Pfam:Otopetrin	142	483	3e-40	PFAM
Pfam:Otopetrin	506	583	1.2e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106543
AA Change: I141T

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: I141T

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	102	120	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	178	195	N/A	INTRINSIC
transmembrane domain	208	227	N/A	INTRINSIC
Pfam:Otopetrin	241	462	2.1e-20	PFAM
Pfam:Otopetrin	487	564	2.2e-12	PFAM

Coding Region Coverage

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

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,989,460	Y288C	probably benign	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Agl	C	A	3: 116,807,279	R24I	possibly damaging	Het
Aldoart2	A	G	12: 55,566,048	T253A	probably benign	Het
Ankrd39	G	A	1: 36,539,465	R160W	probably damaging	Het
Aspscr1	C	T	11: 120,677,522	T57M	probably damaging	Het
Baz2b	A	G	2: 59,962,473	L437S	probably benign	Het
Bcl9l	T	A	9: 44,505,747	L331Q	probably damaging	Het
Cdhr4	C	A	9: 107,997,283	P546T	probably damaging	Het
Cfap61	T	C	2: 146,112,533	C231R	unknown	Het
Cnih4	T	C	1: 181,155,902	L61P	probably damaging	Het
Dtx4	A	G	19: 12,492,281	Y161H	probably damaging	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Ercc6	A	G	14: 32,566,361	H830R	probably benign	Het
Exoc7	T	C	11: 116,289,259	N673S	possibly damaging	Het
Gm12185	T	C	11: 48,916,023	S114G	possibly damaging	Het
Hsfy2	A	T	1: 56,637,151	F76I	probably benign	Het
Igsf9b	A	G	9: 27,345,890	D1413G	probably benign	Het
Klk8	G	A	7: 43,802,179	C198Y	probably damaging	Het
Lama3	G	T	18: 12,531,834		probably null	Het
Lce3f	A	T	3: 92,993,096	S75C	unknown	Het
Ldhal6b	T	C	17: 5,417,991	M223V	probably benign	Het
Magoh	T	C	4: 107,887,212	V126A	possibly damaging	Het
Mc1r	A	T	8: 123,408,293	I262F	probably damaging	Het
Mecom	A	G	3: 29,956,442	I629T	probably damaging	Het
Mkrn2os	A	G	6: 115,586,726	V116A	possibly damaging	Het
Muc5b	T	A	7: 141,861,729	V2804D	possibly damaging	Het
Myo15	T	C	11: 60,488,811	V279A		Het
Nhlrc2	A	G	19: 56,594,896	I600V	probably benign	Het
Nipbl	T	C	15: 8,305,872	Q2183R	probably benign	Het
Obscn	C	T	11: 59,000,299	E7136K	unknown	Het
Olfr1118	T	C	2: 87,309,509	V260A	probably benign	Het
Olfr25	A	C	9: 38,330,224	L209F	possibly damaging	Het
Olfr481	T	A	7: 108,081,546	F251I	probably damaging	Het
Olfr970	C	T	9: 39,820,287	T216I	probably benign	Het
Pde4dip	C	A	3: 97,715,565	V1443F	possibly damaging	Het
Pdgfra	T	C	5: 75,166,721	V193A	probably benign	Het
Phf3	T	C	1: 30,805,501	Y1459C	probably benign	Het
Pias4	A	T	10: 81,158,026		probably null	Het
Plcg2	A	G	8: 117,558,113	N159S	probably benign	Het
Plekha7	T	C	7: 116,164,446	D307G	probably benign	Het
Ptprd	T	C	4: 76,072,003	K491E	probably benign	Het
Rbpjl	A	T	2: 164,405,814	R62S	probably benign	Het
Rgs11	T	C	17: 26,207,441	S245P	probably damaging	Het
Ripor3	G	A	2: 167,984,570	A685V	possibly damaging	Het
Rnase9	G	A	14: 51,039,483	P13S	possibly damaging	Het
Scin	C	T	12: 40,124,589	C165Y	probably damaging	Het
Senp7	T	C	16: 56,111,637	W100R	probably benign	Het
Slc26a2	T	C	18: 61,198,460	D633G	probably benign	Het
Slc4a4	C	T	5: 89,135,686	P446S	probably damaging	Het
Soga3	A	T	10: 29,148,228	D380V	probably damaging	Het
Spag17	T	A	3: 100,095,595	C1878*	probably null	Het
Ssc5d	A	G	7: 4,927,576	E129G	possibly damaging	Het
Supt6	T	C	11: 78,226,951	N480D	probably benign	Het
Tbk1	A	G	10: 121,552,501	L590S	probably damaging	Het
Tex45	A	T	8: 3,476,057	H70L	probably benign	Het
Tmem63a	T	A	1: 180,952,974		probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Trio	A	G	15: 27,912,642	S109P	unknown	Het
Tsga10	A	T	1: 37,804,893		probably null	Het
Ttn	A	T	2: 76,795,763	L14984*	probably null	Het
Tyr	T	C	7: 87,483,884	T325A	probably benign	Het
U2surp	A	T	9: 95,485,679		probably null	Het
Uba6	C	A	5: 86,147,075	K368N	probably benign	Het
Upb1	A	G	10: 75,436,201	T283A	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn1r31	A	G	6: 58,472,470	Y137H	probably damaging	Het
Wdtc1	T	C	4: 133,296,437	K541R	probably damaging	Het
Wrn	A	G	8: 33,310,713	I624T	possibly damaging	Het
Zfp804b	T	A	5: 6,770,066	D999V	possibly damaging	Het
Zmym4	T	A	4: 126,925,795	H105L	probably benign	Het

Other mutations in Otop3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Otop3	APN	11	115344453	missense	probably benign
IGL00159:Otop3	APN	11	115344397	missense	probably damaging	1.00
IGL01372:Otop3	APN	11	115345104	missense	possibly damaging	0.86
IGL01380:Otop3	APN	11	115346411	missense	probably damaging	1.00
IGL01960:Otop3	APN	11	115340969	missense	probably damaging	0.97
IGL03099:Otop3	APN	11	115339582	missense	probably damaging	0.99
F5770:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
R1560:Otop3	UTSW	11	115344463	missense	possibly damaging	0.89
R2847:Otop3	UTSW	11	115344558	missense	probably damaging	0.99
R2849:Otop3	UTSW	11	115344558	missense	probably damaging	0.99
R5582:Otop3	UTSW	11	115339339	missense	unknown
R6383:Otop3	UTSW	11	115345072	missense	probably damaging	0.99
R6601:Otop3	UTSW	11	115339847	missense	probably damaging	0.98
R7001:Otop3	UTSW	11	115339653	missense	probably damaging	1.00
R7339:Otop3	UTSW	11	115346378	missense	probably damaging	1.00
R7487:Otop3	UTSW	11	115345000	missense	probably benign
R7639:Otop3	UTSW	11	115344361	missense	possibly damaging	0.94
R7643:Otop3	UTSW	11	115339648	missense	probably damaging	1.00
R7820:Otop3	UTSW	11	115339588	missense	probably damaging	0.99
R8044:Otop3	UTSW	11	115346435	missense	probably damaging	1.00
R8110:Otop3	UTSW	11	115339395	missense	probably benign
R8281:Otop3	UTSW	11	115345075	missense	possibly damaging	0.88
R8556:Otop3	UTSW	11	115344956	missense	probably benign	0.00
V7580:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
V7581:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
V7582:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
V7583:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
X0022:Otop3	UTSW	11	115339867	missense	probably benign	0.01
Z1176:Otop3	UTSW	11	115339844	missense	probably damaging	1.00
Z1176:Otop3	UTSW	11	115341012	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTCTCAATGTGGTATTCC -3'
(R):5'- GACTTGCAGTGAATGTGGCTC -3'

Sequencing Primer
(F):5'- CTCTCAATGTGGTATTCCTGGGTG -3'
(R):5'- GTGAATGTGGCTCACGTCATAACC -3'

Posted On

2019-10-24