Incidental Mutation 'R5393:Dyrk2'
ID 425967
Institutional Source Beutler Lab
Gene Symbol Dyrk2
Ensembl Gene ENSMUSG00000028630
Gene Name dual-specificity tyrosine phosphorylation regulated kinase 2
Synonyms 1810038L18Rik
MMRRC Submission 042965-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R5393 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 118691508-118706114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118695753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 502 (D502N)
Ref Sequence ENSEMBL: ENSMUSP00000004281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004281]
AlphaFold Q5U4C9
Predicted Effect probably damaging
Transcript: ENSMUST00000004281
AA Change: D502N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000004281
Gene: ENSMUSG00000028630
AA Change: D502N

DomainStartEndE-ValueType
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 0.1516 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (72/73)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik A T 16: 88,860,653 (GRCm39) Y60* probably null Het
Abca6 T A 11: 110,135,121 (GRCm39) E221D probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adi1 A G 12: 28,725,274 (GRCm39) D8G probably benign Het
Adnp T C 2: 168,024,869 (GRCm39) K809E possibly damaging Het
Aldh18a1 T C 19: 40,574,011 (GRCm39) H4R probably benign Het
Atp6v0a1 T C 11: 100,929,633 (GRCm39) S485P possibly damaging Het
C1galt1 T C 6: 7,864,143 (GRCm39) probably null Het
Cacna2d4 A T 6: 119,216,015 (GRCm39) N94I probably benign Het
Catsperg1 T C 7: 28,884,924 (GRCm39) N899S probably damaging Het
Cilk1 A G 9: 78,067,997 (GRCm39) T463A probably benign Het
Coro2a A G 4: 46,542,255 (GRCm39) S373P probably damaging Het
Cpsf6 G C 10: 117,197,921 (GRCm39) probably benign Het
Csmd3 A T 15: 47,497,099 (GRCm39) N3099K probably damaging Het
Ctla2b T A 13: 61,043,946 (GRCm39) E74D probably damaging Het
Dnah2 T A 11: 69,391,683 (GRCm39) T671S probably benign Het
Drd5 T A 5: 38,478,248 (GRCm39) S414T probably benign Het
Ecel1 A T 1: 87,080,598 (GRCm39) L376Q possibly damaging Het
Efcab8 G A 2: 153,622,903 (GRCm39) R24Q unknown Het
Eloc A C 1: 16,718,192 (GRCm39) probably benign Het
Ep300 A G 15: 81,515,819 (GRCm39) probably benign Het
Fam89b T C 19: 5,778,733 (GRCm39) D152G probably damaging Het
Gm15455 G A 1: 33,875,927 (GRCm39) noncoding transcript Het
Greb1l A G 18: 10,458,312 (GRCm39) T30A probably benign Het
Hdac10 T C 15: 89,010,887 (GRCm39) Y238C probably damaging Het
Ighv2-5 T C 12: 113,649,502 (GRCm39) T12A possibly damaging Het
Insrr T C 3: 87,718,007 (GRCm39) probably null Het
Irf9 T C 14: 55,843,914 (GRCm39) probably benign Het
Itpr2 A T 6: 146,277,653 (GRCm39) C280* probably null Het
Kcnk18 T C 19: 59,208,271 (GRCm39) C36R probably damaging Het
Khdc4 T A 3: 88,603,913 (GRCm39) H243Q probably benign Het
Klhl14 G T 18: 21,785,051 (GRCm39) N125K probably benign Het
Lce1i T C 3: 92,685,042 (GRCm39) S45G unknown Het
Lrmda A C 14: 22,077,374 (GRCm39) D37A probably damaging Het
Marco A C 1: 120,413,583 (GRCm39) D280E probably damaging Het
Meak7 T C 8: 120,499,157 (GRCm39) I112V probably benign Het
Miox C T 15: 89,220,450 (GRCm39) Q180* probably null Het
Npdc1 A T 2: 25,298,682 (GRCm39) M265L probably damaging Het
Nudcd3 T C 11: 6,063,274 (GRCm39) K205R probably damaging Het
Or2ak6 T A 11: 58,593,326 (GRCm39) H266Q probably damaging Het
Or2t46 C G 11: 58,471,825 (GRCm39) L52V possibly damaging Het
Pcdhga5 C T 18: 37,829,720 (GRCm39) R723C probably benign Het
Pdlim5 T A 3: 141,964,947 (GRCm39) E295D probably damaging Het
Poli C A 18: 70,650,499 (GRCm39) E314* probably null Het
Ptpro A G 6: 137,357,222 (GRCm39) N238D probably benign Het
R3hdm1 A G 1: 128,159,084 (GRCm39) I920V probably benign Het
Ralgapa2 C T 2: 146,187,375 (GRCm39) V1338M probably damaging Het
Saa3 T C 7: 46,362,085 (GRCm39) Y53C probably damaging Het
Septin14 T A 5: 129,760,650 (GRCm39) E398D probably benign Het
Six3 T C 17: 85,931,270 (GRCm39) S309P possibly damaging Het
Slc7a14 A G 3: 31,311,919 (GRCm39) S34P probably damaging Het
Smarca2 C A 19: 26,617,829 (GRCm39) Q287K probably benign Het
Stard9 C T 2: 120,533,387 (GRCm39) L522F possibly damaging Het
Sycp1 T C 3: 102,748,363 (GRCm39) probably null Het
Tbc1d8 A T 1: 39,465,169 (GRCm39) V73E probably damaging Het
Tmem120a T C 5: 135,765,104 (GRCm39) probably null Het
Tsc2 T C 17: 24,819,370 (GRCm39) E1251G possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wnt5b A C 6: 119,417,394 (GRCm39) L157R probably damaging Het
Zbtb24 T A 10: 41,340,578 (GRCm39) V536E probably damaging Het
Zfp593 G A 4: 133,972,615 (GRCm39) A67V probably benign Het
Zfp995 A T 17: 22,099,473 (GRCm39) F254I probably benign Het
Other mutations in Dyrk2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 PCR Primer
(F):5'- GCCAAGTTAGTCCTCAGCTTGG -3'
(R):5'- TCAGAAACTCCTGGATGCTTCC -3'

Sequencing Primer
(F):5'- CTTGGAAGCTGAACTGGAGG -3'
(R):5'- GGATGCTTCCAAACGAGCC -3'
Posted On 2016-08-04