Mutagenetix > Incidental Mutation

Incidental Mutation 'R4896:Dyrk2'

434669

Institutional Source

Beutler Lab

Gene Symbol

Dyrk2

Ensembl Gene

ENSMUSG00000028630

Gene Name

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

Synonyms

1810038L18Rik

MMRRC Submission

042500-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

R4896 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

118855603-118870209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118868248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 34 (G34C)

Ref Sequence

ENSEMBL: ENSMUSP00000004281 (fasta)

Gene Model

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

AlphaFold

Q5U4C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000004281
AA Change: G34C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000004281
Gene: ENSMUSG00000028630
AA Change: G34C

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

0.0833

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

99% (101/102)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,221,937	S1898P	probably benign	Het
4932438A13Rik	T	G	3: 36,965,937	N2108K	probably damaging	Het
Abcb4	T	C	5: 8,907,267	V132A	possibly damaging	Het
Acpp	A	T	9: 104,306,975	V292E	probably damaging	Het
Adamts10	T	C	17: 33,528,896	V102A	possibly damaging	Het
Add2	A	G	6: 86,096,746	T206A	probably benign	Het
Alg12	A	T	15: 88,816,188	L15Q	probably damaging	Het
Ankrd27	T	A	7: 35,608,375	D346E	probably damaging	Het
Armc2	A	T	10: 41,923,794	N689K	probably damaging	Het
Best3	T	A	10: 117,024,555	D573E	probably benign	Het
Ccdc80	A	T	16: 45,095,898	Q339L	probably benign	Het
Cdh9	T	C	15: 16,778,156	V19A	probably benign	Het
Cnksr1	A	T	4: 134,229,675		probably null	Het
Col7a1	T	A	9: 108,957,277	V525E	unknown	Het
Crebrf	T	C	17: 26,742,420	S172P	possibly damaging	Het
Csmd1	T	C	8: 16,009,439	I2099V	probably benign	Het
Dcaf4	T	A	12: 83,539,459	M400K	possibly damaging	Het
Dnah11	A	T	12: 117,995,200	F2983I	probably damaging	Het
Dock6	A	G	9: 21,824,437	V1005A	possibly damaging	Het
Eif4a1	A	T	11: 69,668,597		probably benign	Het
Eno4	G	T	19: 58,964,543	D330Y	probably damaging	Het
Faf1	G	A	4: 109,842,299	C347Y	probably benign	Het
Fam169a	A	G	13: 97,097,592	Y124C	probably damaging	Het
Fam227a	G	T	15: 79,637,054	F269L	probably benign	Het
Fam60a	A	G	6: 148,933,000		probably null	Het
Fancm	C	A	12: 65,075,831	D42E	probably damaging	Het
Fat1	T	A	8: 44,951,280	I356N	possibly damaging	Het
Fer1l6	A	T	15: 58,638,020	T1444S	probably damaging	Het
Galr1	A	G	18: 82,393,940	L267P	probably damaging	Het
Gbx1	T	C	5: 24,504,839	H336R	probably damaging	Het
Gimap8	A	T	6: 48,659,347	Q682L	possibly damaging	Het
Gm2396	T	G	9: 88,931,228		noncoding transcript	Het
Gm5798	T	C	14: 41,348,657	L8S	probably damaging	Het
Hmgcll1	C	T	9: 76,056,178	S39F	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Il3ra	A	T	14: 14,355,381	E289D	probably benign	Het
Isoc1	T	A	18: 58,673,278	L220Q	probably damaging	Het
Itga2	T	A	13: 114,853,766	K918*	probably null	Het
Kat6a	C	T	8: 22,938,313	T1228I	probably benign	Het
Klhl30	T	A	1: 91,359,324		probably null	Het
Krtap6-2	A	T	16: 89,419,918	C54S	unknown	Het
Lmf2	G	A	15: 89,351,800	P634S	probably benign	Het
Map3k4	A	G	17: 12,272,019	V175A	possibly damaging	Het
Mcm3	A	C	1: 20,820,256		probably benign	Het
Mon1b	T	C	8: 113,639,227	S396P	probably damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Ncor2	A	G	5: 125,049,340		probably null	Het
Nlrc5	T	G	8: 94,521,216		probably benign	Het
Nlrp14	GT	GTT	7: 107,197,179		probably null	Het
Nwd2	T	G	5: 63,804,808	S578R	probably damaging	Het
Odf3	G	A	7: 140,848,485		probably benign	Het
Olfr1289	G	A	2: 111,483,660	V105I	possibly damaging	Het
Olfr360	A	G	2: 37,068,410	Y35C	probably damaging	Het
Otoa	C	A	7: 121,102,679	P194T	probably damaging	Het
Pde1b	A	C	15: 103,521,374	D98A	probably damaging	Het
Pi4ka	A	T	16: 17,377,169	C122S	probably damaging	Het
Pole2	C	T	12: 69,223,150	V67M	probably damaging	Het
Prickle2	A	T	6: 92,416,755	D312E	probably benign	Het
Prkd1	T	C	12: 50,389,962	D453G	probably damaging	Het
Prrc1	T	A	18: 57,374,554	V260E	probably damaging	Het
Reg3g	A	T	6: 78,467,810	Y62N	probably benign	Het
Reln	C	T	5: 21,955,238	G2111E	probably damaging	Het
Rsph6a	A	T	7: 19,057,740	E278V	possibly damaging	Het
Scpep1	T	A	11: 88,941,296	I203F	probably damaging	Het
Sec24d	T	C	3: 123,354,947	C747R	probably damaging	Het
Sec31a	A	T	5: 100,368,333	N967K	probably damaging	Het
Sell	T	C	1: 164,063,062	W5R	probably benign	Het
Siglec1	C	T	2: 131,069,869	V1697M	probably benign	Het
Slc22a26	T	A	19: 7,791,054	I213L	probably benign	Het
Slc2a13	G	A	15: 91,412,212	P300S	probably benign	Het
Slco1a4	A	G	6: 141,815,505	Y461H	possibly damaging	Het
Slco3a1	G	C	7: 74,320,556	C434W	probably null	Het
Sp3	A	T	2: 72,938,289	V666D	probably benign	Het
Spidr	A	T	16: 16,118,942	W100R	possibly damaging	Het
Stk33	T	A	7: 109,327,595	M286L	probably damaging	Het
Sult1c2	T	A	17: 53,832,135	I183F	probably benign	Het
Svep1	G	T	4: 58,087,751	T1776K	probably benign	Het
Tesk2	A	G	4: 116,802,993	H436R	probably benign	Het
Tex2	T	C	11: 106,568,404	T67A	probably damaging	Het
Timm10	T	C	2: 84,829,848	S44P	possibly damaging	Het
Tmed11	C	A	5: 108,795,182		probably null	Het
Trim12c	G	A	7: 104,340,948	R441C	probably damaging	Het
Trmt2a	A	G	16: 18,252,929	K509E	probably damaging	Het
Upk3a	A	G	15: 85,019,423	T108A	probably benign	Het
Usp29	A	G	7: 6,962,159	M334V	probably benign	Het
Vash1	A	G	12: 86,680,142	D52G	probably benign	Het
Vmn2r14	T	G	5: 109,220,380	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,244,849	F772I	probably damaging	Het
Vmn2r75	G	T	7: 86,171,579	S49Y	probably benign	Het
Xdh	T	C	17: 73,910,243	T677A	probably damaging	Het
Zan	A	G	5: 137,386,456	L5102P	unknown	Het
Zfp160	T	A	17: 21,020,081	S9T	probably benign	Het
Zfp273	A	T	13: 67,825,554	H267L	probably damaging	Het
Zfp97	T	A	17: 17,144,776	I179K	probably benign	Het
Zfp975	T	C	7: 42,662,292	Y299C	probably damaging	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
IGL01637:Dyrk2	APN	10	118860507	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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTTCCCACAGTCGGAAC -3'
(R):5'- GGGTCGCGAACTTAACTTTG -3'

Sequencing Primer
(F):5'- CCCAACAAGCCAGGGGTC -3'
(R):5'- GCGAACTTAACTTTGCAGCTG -3'

Posted On

2016-10-24