Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Dyrk2'

93037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dyrk2

Ensembl Gene

ENSMUSG00000028630

Gene Name

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2

Synonyms

1810038L18Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

118855603-118870209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118860507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 282 (V282A)

Ref Sequence

ENSEMBL: ENSMUSP00000004281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004281]

AlphaFold

Q5U4C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000004281
AA Change: V282A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004281
Gene: ENSMUSG00000028630
AA Change: V282A

Domain	Start	End	E-Value	Type
S_TKc	220	533	1.16e-92	SMART
low complexity region	560	574	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218692

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Dyrk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Dyrk2	APN	10	118859844	missense	probably damaging	1.00
IGL00536:Dyrk2	APN	10	118860192	missense	probably damaging	1.00
IGL01288:Dyrk2	APN	10	118860699	missense	probably damaging	1.00
IGL01375:Dyrk2	APN	10	118860687	missense	probably damaging	1.00
IGL02052:Dyrk2	APN	10	118860543	missense	probably damaging	1.00
R0452:Dyrk2	UTSW	10	118868763	missense	possibly damaging	0.91
R0833:Dyrk2	UTSW	10	118861122	missense	probably benign	0.00
R0836:Dyrk2	UTSW	10	118861122	missense	probably benign	0.00
R1346:Dyrk2	UTSW	10	118859719	missense	possibly damaging	0.92
R1610:Dyrk2	UTSW	10	118859925	missense	probably benign	0.02
R2397:Dyrk2	UTSW	10	118861368	intron	probably benign
R2409:Dyrk2	UTSW	10	118860627	missense	probably benign
R2965:Dyrk2	UTSW	10	118860337	nonsense	probably null
R2966:Dyrk2	UTSW	10	118860337	nonsense	probably null
R4700:Dyrk2	UTSW	10	118868286	missense	probably benign
R4896:Dyrk2	UTSW	10	118868248	missense	probably damaging	0.96
R4978:Dyrk2	UTSW	10	118860347	missense	probably benign	0.00
R5393:Dyrk2	UTSW	10	118859848	missense	probably damaging	0.98
R5442:Dyrk2	UTSW	10	118860738	missense	possibly damaging	0.72
R5496:Dyrk2	UTSW	10	118860051	missense	probably damaging	1.00
R5810:Dyrk2	UTSW	10	118860340	missense	probably benign	0.16
R5875:Dyrk2	UTSW	10	118860697	missense	probably damaging	1.00
R5930:Dyrk2	UTSW	10	118860268	missense	probably damaging	1.00
R6877:Dyrk2	UTSW	10	118860423	missense	probably damaging	1.00
R7234:Dyrk2	UTSW	10	118860231	missense	possibly damaging	0.84
R7442:Dyrk2	UTSW	10	118859881	missense	probably damaging	1.00
R7741:Dyrk2	UTSW	10	118859689	missense	probably benign
R8108:Dyrk2	UTSW	10	118859829	missense	probably benign	0.27
R8137:Dyrk2	UTSW	10	118859884	missense	probably benign	0.00
R8347:Dyrk2	UTSW	10	118859983	missense	probably damaging	0.99
R8507:Dyrk2	UTSW	10	118860662	missense	probably damaging	1.00
R8517:Dyrk2	UTSW	10	118861021	missense	probably benign
R8695:Dyrk2	UTSW	10	118861017	missense	probably benign	0.00
R9018:Dyrk2	UTSW	10	118860109	missense	probably damaging	0.99
R9619:Dyrk2	UTSW	10	118860387	missense	probably damaging	1.00

Posted On

2013-12-09