Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Taok2'

568820

Institutional Source

Beutler Lab

Gene Symbol

Taok2

Ensembl Gene

ENSMUSG00000059981

Gene Name

TAO kinase 2

Synonyms

1110033K02Rik, TAO1, TAO2, MAP3K17, PSK1

MMRRC Submission

045419-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126464850-126483875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126470260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 856 (V856A)

Ref Sequence

ENSEMBL: ENSMUSP00000112963 (fasta)

Gene Model

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

AlphaFold

Q6ZQ29

Predicted Effect

probably benign
Transcript: ENSMUST00000071268

SMART Domains

Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981

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 benign
Transcript: ENSMUST00000117394
AA Change: V856A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: V856A

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

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,571,711 (GRCm39)	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,869,917 (GRCm39)	T638A	probably benign	Het
Agtr1a	A	C	13: 30,565,890 (GRCm39)	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,777,294 (GRCm39)	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,559,637 (GRCm39)	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,620,599 (GRCm39)	L484P	possibly damaging	Het
Astn2	C	T	4: 65,460,906 (GRCm39)	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213 (GRCm39)	L290F	probably benign	Het
Boll	T	C	1: 55,343,757 (GRCm39)	Y222C	probably damaging	Het
Bphl	A	T	13: 34,234,324 (GRCm39)	I147F	possibly damaging	Het
Cadps2	T	G	6: 23,409,934 (GRCm39)	D766A	unknown	Het
Cd300lb	T	A	11: 114,815,858 (GRCm39)	K210M	probably damaging	Het
Cdan1	T	C	2: 120,555,185 (GRCm39)	Q797R	probably benign	Het
Celsr1	T	A	15: 85,917,209 (GRCm39)	S255C	probably damaging	Het
Cfap91	T	A	16: 38,141,963 (GRCm39)		probably null	Het
Cip2a	T	A	16: 48,826,184 (GRCm39)	M417K	probably benign	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Dennd5b	T	A	6: 148,922,068 (GRCm39)	K815N	probably benign	Het
Exd1	A	G	2: 119,350,620 (GRCm39)	V547A	probably benign	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,697,460 (GRCm39)		probably null	Het
Flg2	T	A	3: 93,110,679 (GRCm39)	N902K	unknown	Het
Fyttd1	T	A	16: 32,704,618 (GRCm39)	N76K	probably benign	Het
Gins1	T	A	2: 150,758,086 (GRCm39)	D57E	probably benign	Het
Gm5565	G	C	5: 146,095,171 (GRCm39)		probably null	Het
Gpsm2	T	C	3: 108,610,244 (GRCm39)	Y72C	probably damaging	Het
Hace1	C	A	10: 45,465,603 (GRCm39)	S53*	probably null	Het
Insig2	A	G	1: 121,234,666 (GRCm39)	V188A	possibly damaging	Het
Ism1	T	C	2: 139,598,963 (GRCm39)	V312A	probably damaging	Het
Jmy	A	T	13: 93,609,251 (GRCm39)	Y353N	probably damaging	Het
Maz	A	C	7: 126,624,725 (GRCm39)	V265G	probably benign	Het
Mtmr14	T	A	6: 113,246,509 (GRCm39)	I426N	probably damaging	Het
Or1e34	C	T	11: 73,779,101 (GRCm39)	M32I	probably benign	Het
Or5b113	A	G	19: 13,342,001 (GRCm39)	E3G	probably benign	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,413 (GRCm39)	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,476,440 (GRCm39)	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Podn	C	T	4: 107,874,899 (GRCm39)		probably null	Het
Prim1	A	G	10: 127,858,788 (GRCm39)	D232G	probably null	Het
Prrt1	T	A	17: 34,851,161 (GRCm39)	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,167,407 (GRCm39)	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,643,782 (GRCm39)	V53L	probably benign	Het
Shank2	C	A	7: 143,965,422 (GRCm39)	P1010Q	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,294,766 (GRCm39)	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,594,951 (GRCm39)	H154Y	probably benign	Het
Slco1a8	T	C	6: 141,934,951 (GRCm39)	K379E	probably damaging	Het
Slco2a1	T	A	9: 102,962,948 (GRCm39)		probably null	Het
Snapc3	T	C	4: 83,353,507 (GRCm39)	I182T	probably benign	Het
Tep1	T	A	14: 51,103,495 (GRCm39)	N265I	probably damaging	Het
Tespa1	A	T	10: 130,197,910 (GRCm39)	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,194,960 (GRCm39)	Q14*	probably null	Het
Trim33	T	C	3: 103,228,952 (GRCm39)	F353L	possibly damaging	Het
Upp1	T	C	11: 9,084,743 (GRCm39)	V154A	probably damaging	Het
Usp34	T	C	11: 23,369,052 (GRCm39)	I1747T		Het
Vmn1r47	T	C	6: 89,999,254 (GRCm39)	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,524,249 (GRCm39)	Y81C	probably benign	Het
Ybx2	A	T	11: 69,831,181 (GRCm39)	T259S	probably benign	Het
Zfp536	T	C	7: 37,179,285 (GRCm39)	T1107A	probably benign	Het
Zfp583	C	T	7: 6,319,585 (GRCm39)	A476T	probably damaging	Het

Other mutations in Taok2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Taok2	APN	7	126,471,583 (GRCm39)	missense	probably damaging	0.98
IGL01153:Taok2	APN	7	126,470,204 (GRCm39)	missense	probably damaging	0.99
IGL02689:Taok2	APN	7	126,475,270 (GRCm39)	missense	probably damaging	0.99
R0049:Taok2	UTSW	7	126,465,583 (GRCm39)	missense	possibly damaging	0.92
R0601:Taok2	UTSW	7	126,478,605 (GRCm39)	missense	probably damaging	1.00
R0976:Taok2	UTSW	7	126,474,323 (GRCm39)	missense	possibly damaging	0.77
R1456:Taok2	UTSW	7	126,479,313 (GRCm39)	missense	probably benign	0.09
R1643:Taok2	UTSW	7	126,475,110 (GRCm39)	unclassified	probably benign
R2084:Taok2	UTSW	7	126,469,363 (GRCm39)	missense	probably benign	0.04
R2212:Taok2	UTSW	7	126,470,030 (GRCm39)	missense	possibly damaging	0.79
R2471:Taok2	UTSW	7	126,474,272 (GRCm39)	missense	probably damaging	0.98
R3162:Taok2	UTSW	7	126,474,347 (GRCm39)	missense	possibly damaging	0.85
R3162:Taok2	UTSW	7	126,474,347 (GRCm39)	missense	possibly damaging	0.85
R3412:Taok2	UTSW	7	126,470,030 (GRCm39)	missense	possibly damaging	0.79
R4085:Taok2	UTSW	7	126,473,897 (GRCm39)	missense	possibly damaging	0.90
R4440:Taok2	UTSW	7	126,465,693 (GRCm39)	missense	possibly damaging	0.85
R4775:Taok2	UTSW	7	126,469,940 (GRCm39)	missense	probably damaging	0.99
R4787:Taok2	UTSW	7	126,467,304 (GRCm39)	missense	possibly damaging	0.85
R4788:Taok2	UTSW	7	126,467,304 (GRCm39)	missense	possibly damaging	0.85
R4791:Taok2	UTSW	7	126,467,304 (GRCm39)	missense	possibly damaging	0.85
R4927:Taok2	UTSW	7	126,475,213 (GRCm39)	missense	probably damaging	1.00
R5651:Taok2	UTSW	7	126,479,455 (GRCm39)	missense	probably damaging	1.00
R6371:Taok2	UTSW	7	126,469,319 (GRCm39)	missense	probably damaging	1.00
R6408:Taok2	UTSW	7	126,470,164 (GRCm39)	missense	probably benign
R6605:Taok2	UTSW	7	126,477,930 (GRCm39)	missense	probably damaging	1.00
R6828:Taok2	UTSW	7	126,471,047 (GRCm39)	splice site	probably null
R6863:Taok2	UTSW	7	126,471,109 (GRCm39)	missense	probably damaging	0.99
R6962:Taok2	UTSW	7	126,466,088 (GRCm39)	critical splice acceptor site	probably null
R6967:Taok2	UTSW	7	126,469,564 (GRCm39)	missense	probably damaging	0.98
R7127:Taok2	UTSW	7	126,466,326 (GRCm39)	missense	possibly damaging	0.82
R7187:Taok2	UTSW	7	126,471,552 (GRCm39)	missense	probably damaging	0.99
R7307:Taok2	UTSW	7	126,465,990 (GRCm39)	missense	probably damaging	1.00
R7429:Taok2	UTSW	7	126,469,849 (GRCm39)	missense	possibly damaging	0.95
R7497:Taok2	UTSW	7	126,474,050 (GRCm39)	missense	probably damaging	1.00
R8861:Taok2	UTSW	7	126,470,615 (GRCm39)	missense	probably damaging	0.99
R9402:Taok2	UTSW	7	126,469,400 (GRCm39)	missense
R9542:Taok2	UTSW	7	126,466,008 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTGGGTTCCAATTGGAG -3'
(R):5'- TCCTGGACCAAAGGATGCTG -3'

Sequencing Primer
(F):5'- GTTCCAATTGGAGCCCCTC -3'
(R):5'- CCAAAGGATGCTGGGAGAG -3'

Posted On

2019-09-13