Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Dyrk2'

447476

Institutional Source

Beutler Lab

Gene Symbol

Dyrk2

Ensembl Gene

ENSMUSG00000028630

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 2

Synonyms

1810038L18Rik

MMRRC Submission

043395-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118691508-118706114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118696245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 338 (H338N)

Ref Sequence

ENSEMBL: ENSMUSP00000004281 (fasta)

Gene Model

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

AlphaFold

Q5U4C9

Predicted Effect

probably benign
Transcript: ENSMUST00000004281
AA Change: H338N

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

SMART Domains

Protein: ENSMUSP00000004281
Gene: ENSMUSG00000028630
AA Change: H338N

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

Meta Mutation Damage Score

0.4373

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631 (GRCm39)	F866L	probably benign	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Actl11	C	T	9: 107,806,420 (GRCm39)	P248S	probably benign	Het
Actr3	A	G	1: 125,344,116 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,974,500 (GRCm39)		probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,005,638 (GRCm39)		probably null	Het
Car13	A	C	3: 14,706,828 (GRCm39)		probably null	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cnnm3	A	G	1: 36,564,280 (GRCm39)	E704G	probably benign	Het
Cyp4f14	T	A	17: 33,125,072 (GRCm39)	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,840,164 (GRCm39)	T710N	probably damaging	Het
Ddx60	C	T	8: 62,465,422 (GRCm39)	Q1360*	probably null	Het
Dlg5	A	G	14: 24,196,322 (GRCm39)	V1625A	probably damaging	Het
Dst	G	A	1: 34,222,121 (GRCm39)		probably benign	Het
Epb41l1	A	T	2: 156,341,575 (GRCm39)	I187F	probably damaging	Het
Esd	A	G	14: 74,983,051 (GRCm39)	D221G	probably damaging	Het
Fam53b	T	A	7: 132,361,893 (GRCm39)	N45I	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,248,098 (GRCm39)	D1006E	probably benign	Het
Gli3	T	C	13: 15,818,894 (GRCm39)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,190,196 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 34,994,796 (GRCm39)	A490V	probably benign	Het
Hoxa7	T	C	6: 52,193,004 (GRCm39)	D128G	probably benign	Het
Igdcc4	A	G	9: 65,035,977 (GRCm39)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,226,492 (GRCm39)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,738,063 (GRCm39)		probably null	Het
Il17re	C	T	6: 113,446,557 (GRCm39)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,671,124 (GRCm39)		probably benign	Het
Larp7-ps	A	T	4: 92,079,820 (GRCm39)		probably null	Het
Lgals12	T	C	19: 7,584,085 (GRCm39)	D4G	probably benign	Het
Liph	A	T	16: 21,786,860 (GRCm39)	L252Q	probably damaging	Het
Mtg1	T	A	7: 139,725,898 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,982,316 (GRCm39)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,792,088 (GRCm39)	R812G	probably benign	Het
Npm3	A	G	19: 45,736,644 (GRCm39)	I165T	possibly damaging	Het
Or1e22	G	T	11: 73,376,921 (GRCm39)	S243*	probably null	Het
Osbpl9	A	G	4: 108,943,571 (GRCm39)	V231A	probably benign	Het
Pgam2	T	C	11: 5,753,417 (GRCm39)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,270,897 (GRCm39)	W3219R	probably benign	Het
Procr	A	G	2: 155,593,327 (GRCm39)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,471,314 (GRCm39)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,601,222 (GRCm39)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,003,598 (GRCm39)	C500S	probably damaging	Het
Snrpd2	G	T	7: 18,886,447 (GRCm39)	V77F	probably benign	Het
Sp100	G	A	1: 85,593,006 (GRCm39)	G145D	probably benign	Het
Spg7	G	A	8: 123,821,308 (GRCm39)	E678K	possibly damaging	Het
Ssh1	T	C	5: 114,084,627 (GRCm39)	K538E	probably benign	Het
Sspo	C	T	6: 48,460,832 (GRCm39)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,077,932 (GRCm39)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,032,380 (GRCm39)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,264,768 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm39)		probably benign	Het
Triobp	T	C	15: 78,852,467 (GRCm39)	C874R	probably benign	Het
Tymp	T	A	15: 89,258,534 (GRCm39)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,428,597 (GRCm39)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,897,804 (GRCm39)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,024,815 (GRCm39)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,643,688 (GRCm39)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,510 (GRCm39)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,541,579 (GRCm39)	Y54*	probably null	Het
Zswim9	A	T	7: 12,994,662 (GRCm39)	V498D	probably damaging	Het

Other mutations in Dyrk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Dyrk2	APN	10	118,695,749 (GRCm39)	missense	probably damaging	1.00
IGL00536:Dyrk2	APN	10	118,696,097 (GRCm39)	missense	probably damaging	1.00
IGL01288:Dyrk2	APN	10	118,696,604 (GRCm39)	missense	probably damaging	1.00
IGL01375:Dyrk2	APN	10	118,696,592 (GRCm39)	missense	probably damaging	1.00
IGL01637:Dyrk2	APN	10	118,696,412 (GRCm39)	missense	probably damaging	1.00
IGL02052:Dyrk2	APN	10	118,696,448 (GRCm39)	missense	probably damaging	1.00
R0452:Dyrk2	UTSW	10	118,704,668 (GRCm39)	missense	possibly damaging	0.91
R0833:Dyrk2	UTSW	10	118,697,027 (GRCm39)	missense	probably benign	0.00
R0836:Dyrk2	UTSW	10	118,697,027 (GRCm39)	missense	probably benign	0.00
R1346:Dyrk2	UTSW	10	118,695,624 (GRCm39)	missense	possibly damaging	0.92
R1610:Dyrk2	UTSW	10	118,695,830 (GRCm39)	missense	probably benign	0.02
R2397:Dyrk2	UTSW	10	118,697,273 (GRCm39)	intron	probably benign
R2409:Dyrk2	UTSW	10	118,696,532 (GRCm39)	missense	probably benign
R2965:Dyrk2	UTSW	10	118,696,242 (GRCm39)	nonsense	probably null
R2966:Dyrk2	UTSW	10	118,696,242 (GRCm39)	nonsense	probably null
R4700:Dyrk2	UTSW	10	118,704,191 (GRCm39)	missense	probably benign
R4896:Dyrk2	UTSW	10	118,704,153 (GRCm39)	missense	probably damaging	0.96
R4978:Dyrk2	UTSW	10	118,696,252 (GRCm39)	missense	probably benign	0.00
R5393:Dyrk2	UTSW	10	118,695,753 (GRCm39)	missense	probably damaging	0.98
R5442:Dyrk2	UTSW	10	118,696,643 (GRCm39)	missense	possibly damaging	0.72
R5496:Dyrk2	UTSW	10	118,695,956 (GRCm39)	missense	probably damaging	1.00
R5875:Dyrk2	UTSW	10	118,696,602 (GRCm39)	missense	probably damaging	1.00
R5930:Dyrk2	UTSW	10	118,696,173 (GRCm39)	missense	probably damaging	1.00
R6877:Dyrk2	UTSW	10	118,696,328 (GRCm39)	missense	probably damaging	1.00
R7234:Dyrk2	UTSW	10	118,696,136 (GRCm39)	missense	possibly damaging	0.84
R7442:Dyrk2	UTSW	10	118,695,786 (GRCm39)	missense	probably damaging	1.00
R7741:Dyrk2	UTSW	10	118,695,594 (GRCm39)	missense	probably benign
R8108:Dyrk2	UTSW	10	118,695,734 (GRCm39)	missense	probably benign	0.27
R8137:Dyrk2	UTSW	10	118,695,789 (GRCm39)	missense	probably benign	0.00
R8347:Dyrk2	UTSW	10	118,695,888 (GRCm39)	missense	probably damaging	0.99
R8507:Dyrk2	UTSW	10	118,696,567 (GRCm39)	missense	probably damaging	1.00
R8517:Dyrk2	UTSW	10	118,696,926 (GRCm39)	missense	probably benign
R8695:Dyrk2	UTSW	10	118,696,922 (GRCm39)	missense	probably benign	0.00
R9018:Dyrk2	UTSW	10	118,696,014 (GRCm39)	missense	probably damaging	0.99
R9619:Dyrk2	UTSW	10	118,696,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGGGCATGCCATACCTGG -3'
(R):5'- TTGGAACACCTACGGAAGC -3'

Sequencing Primer
(F):5'- ATACCTGGCTCCGAGGATCAC -3'
(R):5'- GGACAACACTATGAACGTCATC -3'

Posted On

2016-12-15