Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Dyrk2'

261890

Institutional Source

Beutler Lab

Gene Symbol

Dyrk2

Ensembl Gene

ENSMUSG00000028630

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 2

Synonyms

1810038L18Rik

MMRRC Submission

038652-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R0452 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

118691508-118706114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118704668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 3 (T3A)

Ref Sequence

ENSEMBL: ENSMUSP00000004281 (fasta)

Gene Model

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

AlphaFold

Q5U4C9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004281
AA Change: T3A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000004281
Gene: ENSMUSG00000028630
AA Change: T3A

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: ENSMUST00000218477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218692

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	probably benign	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
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
R5810:Dyrk2	UTSW	10	118,696,245 (GRCm39)	missense	probably benign	0.16
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

Posted On

2015-02-04