Mutagenetix > Incidental Mutation

Incidental Mutation 'R5496:Dyrk2'

432360

Institutional Source

Beutler Lab

Gene Symbol

Dyrk2

Ensembl Gene

ENSMUSG00000028630

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 2

Synonyms

1810038L18Rik

MMRRC Submission

043057-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R5496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118691508-118706114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118695956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 434 (E434G)

Ref Sequence

ENSEMBL: ENSMUSP00000004281 (fasta)

Gene Model

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

AlphaFold

Q5U4C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000004281
AA Change: E434G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004281
Gene: ENSMUSG00000028630
AA Change: E434G

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

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,724,818 (GRCm39)	V84I	probably benign	Het
Adam10	T	G	9: 70,630,021 (GRCm39)	F151C	probably damaging	Het
Akap6	A	G	12: 53,187,436 (GRCm39)	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,683,911 (GRCm39)	T524A	probably benign	Het
Bicra	C	T	7: 15,721,766 (GRCm39)	V584I	probably benign	Het
Carmil1	G	A	13: 24,339,433 (GRCm39)	R54C	probably damaging	Het
Cbln1	A	G	8: 88,198,324 (GRCm39)	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,592,217 (GRCm39)	V40A	probably benign	Het
Cdh20	T	A	1: 109,976,647 (GRCm39)	I104N	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Cfap91	A	G	16: 38,141,855 (GRCm39)	I359T	probably damaging	Het
Col12a1	A	G	9: 79,509,467 (GRCm39)		probably benign	Het
Csf2rb	A	G	15: 78,224,761 (GRCm39)	E173G	probably damaging	Het
Cyb561	A	G	11: 105,828,545 (GRCm39)	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,404,341 (GRCm39)	K34M	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah7a	T	G	1: 53,496,927 (GRCm39)	M3110L	probably benign	Het
Ebag9	T	G	15: 44,503,816 (GRCm39)	*214E	probably null	Het
Egln3	A	T	12: 54,250,110 (GRCm39)	W80R	probably damaging	Het
Eps15l1	A	G	8: 73,136,619 (GRCm39)	Y336H	probably benign	Het
Gak	A	G	5: 108,724,483 (GRCm39)	S1076P	probably benign	Het
Glra1	T	C	11: 55,418,241 (GRCm39)	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,620,945 (GRCm39)	M108K	probably damaging	Het
Gm3604	A	T	13: 62,519,393 (GRCm39)	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,438,614 (GRCm39)		probably benign	Het
Gmcl1	G	T	6: 86,674,507 (GRCm39)	A457D	probably damaging	Het
H2-M11	T	C	17: 36,858,871 (GRCm39)	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,172,140 (GRCm39)	W3S	probably damaging	Het
Il22	T	G	10: 118,041,002 (GRCm39)	V36G	possibly damaging	Het
Ints1	G	A	5: 139,740,953 (GRCm39)	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,766,561 (GRCm39)	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,516,797 (GRCm39)	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,804,568 (GRCm39)	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,620,202 (GRCm39)	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,922,245 (GRCm39)	D948G	probably benign	Het
Krba1	A	G	6: 48,383,290 (GRCm39)	T229A	possibly damaging	Het
Leprot	T	A	4: 101,515,093 (GRCm39)	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,817,985 (GRCm39)	D2415G	probably benign	Het
Mnd1	T	A	3: 83,995,481 (GRCm39)	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,825,553 (GRCm39)	Y339*	probably null	Het
Nfatc2	G	A	2: 168,378,198 (GRCm39)	T268M	probably damaging	Het
Or14j10	T	C	17: 37,935,469 (GRCm39)	D19G	probably benign	Het
Or52d3	G	C	7: 104,229,701 (GRCm39)	A283P	probably damaging	Het
Or8h7	G	T	2: 86,720,658 (GRCm39)	P287Q	probably damaging	Het
Or8h7	G	C	2: 86,720,659 (GRCm39)	P287A	probably damaging	Het
Pan3	G	A	5: 147,463,938 (GRCm39)		probably null	Het
Pde6a	A	T	18: 61,386,736 (GRCm39)		probably null	Het
Prss39	T	C	1: 34,539,342 (GRCm39)	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,709,507 (GRCm39)	S507G	probably benign	Het
Rif1	T	C	2: 51,988,928 (GRCm39)	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smurf1	C	A	5: 144,819,403 (GRCm39)	E601*	probably null	Het
Stau2	T	C	1: 16,460,245 (GRCm39)	S231G	probably damaging	Het
Timp2	T	G	11: 118,194,707 (GRCm39)	M161L	probably benign	Het
Tlr5	T	C	1: 182,801,197 (GRCm39)	L167P	probably damaging	Het
Trhr	G	A	15: 44,060,932 (GRCm39)	A151T	probably benign	Het
Unc13d	A	G	11: 115,957,534 (GRCm39)	V807A	probably damaging	Het
Usp2	T	C	9: 43,996,505 (GRCm39)	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,146,589 (GRCm39)	T447A	probably damaging	Het
Zan	A	G	5: 137,434,607 (GRCm39)	I2232T	unknown	Het
Zfp12	C	A	5: 143,230,550 (GRCm39)	C292*	probably null	Het
Zfp850	A	C	7: 27,706,771 (GRCm39)	M43R	probably damaging	Het
Zic5	G	A	14: 122,696,755 (GRCm39)	T620M	unknown	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
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

PCR Primer
(F):5'- GTCATCGCATCCCTTCAGTG -3'
(R):5'- GTTGTTACGAGCACCAACG -3'

Sequencing Primer
(F):5'- GCATCCCTTCAGTGCGTTC -3'
(R):5'- TACGAGCACCAACGCGTCTAC -3'

Posted On

2016-10-05