Mutagenetix > Incidental Mutations

Incidental Mutation 'R7497:Taok2'

581135

Institutional Source

Beutler Lab

Gene Symbol

Taok2

Ensembl Gene

ENSMUSG00000059981

Gene Name

TAO kinase 2

Synonyms

MAP3K17, TAO2, 1110033K02Rik, PSK1, TAO1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126865678-126884703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126874878 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 352 (T352I)

Ref Sequence

ENSEMBL: ENSMUSP00000112963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071268] [ENSMUST00000117394] [ENSMUST00000214525]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071268
AA Change: T352I

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
AA Change: T352I

Domain	Start	End	E-Value	Type
S_TKc	28	281	6.42e-86	SMART
low complexity region	319	333	N/A	INTRINSIC
coiled coil region	373	401	N/A	INTRINSIC
low complexity region	449	465	N/A	INTRINSIC
coiled coil region	493	526	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
coiled coil region	579	608	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
coiled coil region	821	859	N/A	INTRINSIC
low complexity region	863	892	N/A	INTRINSIC
low complexity region	931	954	N/A	INTRINSIC
low complexity region	963	972	N/A	INTRINSIC
low complexity region	977	992	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117394
AA Change: T352I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: T352I

Domain	Start	End	E-Value	Type
S_TKc	28	281	6.42e-86	SMART
low complexity region	319	333	N/A	INTRINSIC
coiled coil region	373	401	N/A	INTRINSIC
low complexity region	449	465	N/A	INTRINSIC
coiled coil region	493	526	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
coiled coil region	579	608	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
low complexity region	929	939	N/A	INTRINSIC
transmembrane domain	962	984	N/A	INTRINSIC
transmembrane domain	991	1013	N/A	INTRINSIC
transmembrane domain	1017	1039	N/A	INTRINSIC
transmembrane domain	1052	1074	N/A	INTRINSIC
low complexity region	1085	1100	N/A	INTRINSIC
low complexity region	1197	1215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214525

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size. Mice homozygous for a targeted allele exhibit resistance to the ataxic effect of alcohol, reduced blood ethanol content, increased alcohol consumption, impaired CPP for alcohol, and impaired habituation in an open field. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,191,176	I145F	probably benign	Het
Acvr2b	T	A	9: 119,433,286	V455E	probably benign	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Agap2	T	C	10: 127,090,965	V977A	probably damaging	Het
Als2cr12	T	A	1: 58,678,308	D148V	probably damaging	Het
Aph1b	A	C	9: 66,794,119	S79A	probably damaging	Het
Atm	G	A	9: 53,511,891	S645L	probably benign	Het
Ccdc173	A	C	2: 69,758,448	N439K	probably benign	Het
Cdh11	T	C	8: 102,673,824	R171G	probably benign	Het
Ces2f	T	A	8: 104,954,698	D556E	probably benign	Het
Cyp26b1	C	A	6: 84,576,982	V218L	possibly damaging	Het
D11Wsu47e	T	A	11: 113,692,397	W517R	probably damaging	Het
Diaph1	T	C	18: 37,895,300		probably null	Het
Dock1	A	G	7: 134,765,274	I482V	probably benign	Het
Dok4	A	T	8: 94,867,425	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,059,047	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,230,736	V157E	probably damaging	Het
Eif2a	C	A	3: 58,548,681	P367Q	probably damaging	Het
Elp2	C	T	18: 24,611,928	R102C	probably damaging	Het
Erich2	T	C	2: 70,534,322	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422		probably null	Het
Gadl1	A	T	9: 116,074,087	I495L	probably benign	Het
Gcnt4	A	G	13: 96,946,960	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,643,580	K21E	unknown	Het
Gm11639	T	C	11: 104,762,690		probably null	Het
Gm7361	C	A	5: 26,261,190	H183Q	probably benign	Het
Gp2	C	T	7: 119,454,606	C44Y	probably damaging	Het
Hcar2	C	T	5: 123,865,186	V85I	probably benign	Het
Hira	T	C	16: 18,952,079	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,513,536	T49S	probably damaging	Het
Ints1	C	T	5: 139,768,976	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,324,376	L909R	probably damaging	Het
Klkb1	T	A	8: 45,294,790		probably benign	Het
Krit1	A	G	5: 3,812,349	H168R	possibly damaging	Het
Map3k21	A	T	8: 125,927,601	E386D	probably damaging	Het
Muc16	C	T	9: 18,645,089	E3303K	unknown	Het
Muc5b	T	G	7: 141,861,513	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,197,701	L189P		Het
Nlrc5	T	C	8: 94,521,970	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,082,818	K402R	probably benign	Het
Olfr1272	T	A	2: 90,281,754	T274S	possibly damaging	Het
Olfr52	T	C	2: 86,182,073	I13V	probably benign	Het
Olfr601	T	C	7: 103,359,012	M61V	probably damaging	Het
Olfr727	T	A	14: 50,127,495	L306Q	probably benign	Het
Pnmal2	A	G	7: 16,944,949		probably benign	Het
Pnpt1	A	T	11: 29,130,860	M35L	probably benign	Het
Postn	A	G	3: 54,362,670	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775	D110A	probably damaging	Het
Pptc7	G	A	5: 122,284,879	V71M	possibly damaging	Het
Prdm11	T	A	2: 93,012,707	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,279,498	L613P	probably damaging	Het
Ryr3	T	C	2: 112,730,473	D2981G	probably benign	Het
Sbf2	C	A	7: 110,614,716	E16*	probably null	Het
Scara3	T	C	14: 65,931,202	E322G	probably damaging	Het
Sema5b	T	A	16: 35,661,330	C893S	probably damaging	Het
Setdb1	T	C	3: 95,341,828	D323G	probably damaging	Het
Slc19a3	T	C	1: 83,013,928	Y453C	probably damaging	Het
Snx5	T	C	2: 144,257,974	K137E	probably damaging	Het
Taar8c	G	A	10: 24,101,218	T232I	probably benign	Het
Ttc3	C	A	16: 94,418,682	R489S	possibly damaging	Het
Usp12	A	T	5: 146,752,454		probably null	Het
Usp16	T	A	16: 87,466,286	C125*	probably null	Het
Vmn2r106	C	T	17: 20,267,939	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,697	I2832K	probably benign	Het
Vps13c	A	G	9: 67,840,479	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,026,193	I335K	probably benign	Het
Zfp788	A	T	7: 41,648,851	I304F	possibly damaging	Het

Other mutations in Taok2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Taok2	APN	7	126872411	missense	probably damaging	0.98
IGL01153:Taok2	APN	7	126871032	missense	probably damaging	0.99
IGL02689:Taok2	APN	7	126876098	missense	probably damaging	0.99
R0049:Taok2	UTSW	7	126866411	missense	possibly damaging	0.92
R0601:Taok2	UTSW	7	126879433	missense	probably damaging	1.00
R0976:Taok2	UTSW	7	126875151	missense	possibly damaging	0.77
R1456:Taok2	UTSW	7	126880141	missense	probably benign	0.09
R1643:Taok2	UTSW	7	126875938	unclassified	probably benign
R2084:Taok2	UTSW	7	126870191	missense	probably benign	0.04
R2212:Taok2	UTSW	7	126870858	missense	possibly damaging	0.79
R2471:Taok2	UTSW	7	126875100	missense	probably damaging	0.98
R3162:Taok2	UTSW	7	126875175	missense	possibly damaging	0.85
R3162:Taok2	UTSW	7	126875175	missense	possibly damaging	0.85
R3412:Taok2	UTSW	7	126870858	missense	possibly damaging	0.79
R4085:Taok2	UTSW	7	126874725	missense	possibly damaging	0.90
R4440:Taok2	UTSW	7	126866521	missense	possibly damaging	0.85
R4775:Taok2	UTSW	7	126870768	missense	probably damaging	0.99
R4787:Taok2	UTSW	7	126868132	missense	possibly damaging	0.85
R4788:Taok2	UTSW	7	126868132	missense	possibly damaging	0.85
R4791:Taok2	UTSW	7	126868132	missense	possibly damaging	0.85
R4927:Taok2	UTSW	7	126876041	missense	probably damaging	1.00
R5651:Taok2	UTSW	7	126880283	missense	probably damaging	1.00
R6371:Taok2	UTSW	7	126870147	missense	probably damaging	1.00
R6408:Taok2	UTSW	7	126870992	missense	probably benign
R6605:Taok2	UTSW	7	126878758	missense	probably damaging	1.00
R6828:Taok2	UTSW	7	126871875	splice site	probably null
R6863:Taok2	UTSW	7	126871937	missense	probably damaging	0.99
R6962:Taok2	UTSW	7	126866916	critical splice acceptor site	probably null
R6967:Taok2	UTSW	7	126870392	missense	probably damaging	0.98
R7127:Taok2	UTSW	7	126867154	missense	possibly damaging	0.82
R7187:Taok2	UTSW	7	126872380	missense	probably damaging	0.99
R7307:Taok2	UTSW	7	126866818	missense	probably damaging	1.00
R7325:Taok2	UTSW	7	126871088	missense	probably benign
R7429:Taok2	UTSW	7	126870677	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGGCCATCTCTCTGGATTCAG -3'
(R):5'- TTCCAAGAGGCACCCAATG -3'

Sequencing Primer
(F):5'- GGATTCAGGGCCTTCTTCC -3'
(R):5'- GGAGGTGACCTAACTTAACCTGAC -3'

Posted On

2019-10-17