Incidental Mutation 'R2394:Dyrk1a'
ID 247928
Institutional Source Beutler Lab
Gene Symbol Dyrk1a
Ensembl Gene ENSMUSG00000022897
Gene Name dual-specificity tyrosine phosphorylation regulated kinase 1a
Synonyms 2310043O08Rik, Dyrk, D16Ertd272e, D16Ertd493e, Mnbh
MMRRC Submission 040362-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2394 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94485991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 446 (V446E)
Ref Sequence ENSEMBL: ENSMUSP00000113660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284]
AlphaFold Q61214
Predicted Effect probably benign
Transcript: ENSMUST00000023614
AA Change: V446E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: V446E

DomainStartEndE-ValueType
low complexity region 136 147 N/A INTRINSIC
S_TKc 159 479 6.63e-79 SMART
low complexity region 502 525 N/A INTRINSIC
low complexity region 599 620 N/A INTRINSIC
low complexity region 650 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119878
AA Change: V446E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: V446E

DomainStartEndE-ValueType
low complexity region 136 147 N/A INTRINSIC
S_TKc 159 479 6.63e-79 SMART
low complexity region 502 525 N/A INTRINSIC
low complexity region 599 620 N/A INTRINSIC
low complexity region 650 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122284
AA Change: V408E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: V408E

DomainStartEndE-ValueType
low complexity region 127 138 N/A INTRINSIC
S_TKc 150 470 6.63e-79 SMART
low complexity region 493 516 N/A INTRINSIC
low complexity region 590 611 N/A INTRINSIC
low complexity region 641 663 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted deletion present a general embryonic growth delay and die during midgestation. Heterozygotes display reduced postnatal survival, postnatal growth retardation, microcephaly, behavioral and motor deficits, and altered neocortical pyramidal cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik A T 7: 29,980,053 (GRCm39) probably benign Het
Abca17 T C 17: 24,500,190 (GRCm39) probably null Het
Atxn7 T C 14: 14,100,237 (GRCm38) V641A probably damaging Het
C3 G A 17: 57,529,303 (GRCm39) Q30* probably null Het
Ccdc162 A G 10: 41,445,894 (GRCm39) I426T probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cwc27 A C 13: 104,932,942 (GRCm39) D253E probably benign Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dmbt1 T A 7: 130,696,464 (GRCm39) Y892* probably null Het
Dnhd1 T A 7: 105,369,438 (GRCm39) Y4354N probably benign Het
Dync2li1 T A 17: 84,952,175 (GRCm39) I202K possibly damaging Het
Efcab3 C A 11: 104,629,121 (GRCm39) T933K probably benign Het
Fam186b T C 15: 99,178,058 (GRCm39) I423V probably benign Het
Gm5108 T C 5: 68,132,475 (GRCm39) probably benign Het
Htr3a A G 9: 48,817,643 (GRCm39) V110A probably benign Het
Itsn2 C A 12: 4,757,005 (GRCm39) S1365Y possibly damaging Het
Lrrc46 T C 11: 96,929,657 (GRCm39) I60V probably damaging Het
Mtrex A T 13: 113,019,702 (GRCm39) Y803N probably benign Het
Nlrp14 T C 7: 106,797,031 (GRCm39) V307A probably benign Het
Nt5c2 A G 19: 46,878,506 (GRCm39) probably null Het
Obox2 C T 7: 15,130,935 (GRCm39) P56S possibly damaging Het
Olfml2b A G 1: 170,477,319 (GRCm39) I151M possibly damaging Het
Oog3 T A 4: 143,885,884 (GRCm39) D238V probably benign Het
Pde11a T C 2: 75,889,405 (GRCm39) T690A probably benign Het
Ppa1 A G 10: 61,508,163 (GRCm39) probably benign Het
Ppfia2 A G 10: 106,655,351 (GRCm39) E306G probably damaging Het
Ppic G A 18: 53,544,119 (GRCm39) R89C probably damaging Het
Ptprk T G 10: 28,427,713 (GRCm39) I764S probably damaging Het
Ripk2 T C 4: 16,132,774 (GRCm39) probably benign Het
Rnf123 A G 9: 107,940,735 (GRCm39) M702T probably benign Het
Slco1b2 T C 6: 141,615,100 (GRCm39) I335T probably damaging Het
Ssbp1 T A 6: 40,453,743 (GRCm39) D96E probably benign Het
Tpp2 T A 1: 44,022,346 (GRCm39) S915T possibly damaging Het
Unc5c A T 3: 141,383,892 (GRCm39) Q90L probably damaging Het
Vmn2r57 A G 7: 41,049,619 (GRCm39) I710T possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Other mutations in Dyrk1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Dyrk1a APN 16 94,485,943 (GRCm39) missense probably benign 0.21
IGL01599:Dyrk1a APN 16 94,492,743 (GRCm39) missense possibly damaging 0.94
IGL01809:Dyrk1a APN 16 94,460,476 (GRCm39) missense probably benign 0.00
IGL02201:Dyrk1a APN 16 94,493,008 (GRCm39) missense probably benign 0.05
IGL02345:Dyrk1a APN 16 94,472,221 (GRCm39) missense possibly damaging 0.88
IGL02508:Dyrk1a APN 16 94,486,042 (GRCm39) missense probably damaging 0.97
IGL02709:Dyrk1a APN 16 94,486,102 (GRCm39) missense probably benign 0.08
IGL02713:Dyrk1a APN 16 94,486,204 (GRCm39) splice site probably benign
R0414:Dyrk1a UTSW 16 94,464,701 (GRCm39) missense probably damaging 1.00
R2107:Dyrk1a UTSW 16 94,487,386 (GRCm39) missense probably damaging 1.00
R3124:Dyrk1a UTSW 16 94,469,660 (GRCm39) splice site probably benign
R3125:Dyrk1a UTSW 16 94,469,660 (GRCm39) splice site probably benign
R3792:Dyrk1a UTSW 16 94,485,933 (GRCm39) missense probably benign 0.31
R3963:Dyrk1a UTSW 16 94,464,605 (GRCm39) missense probably benign 0.00
R4573:Dyrk1a UTSW 16 94,492,882 (GRCm39) missense possibly damaging 0.90
R4652:Dyrk1a UTSW 16 94,492,924 (GRCm39) missense probably benign 0.02
R4965:Dyrk1a UTSW 16 94,492,854 (GRCm39) nonsense probably null
R5326:Dyrk1a UTSW 16 94,487,440 (GRCm39) missense probably damaging 0.98
R5540:Dyrk1a UTSW 16 94,486,202 (GRCm39) critical splice donor site probably null
R5593:Dyrk1a UTSW 16 94,460,442 (GRCm39) missense possibly damaging 0.64
R6313:Dyrk1a UTSW 16 94,460,373 (GRCm39) missense possibly damaging 0.95
R6396:Dyrk1a UTSW 16 94,472,299 (GRCm39) missense probably damaging 1.00
R6524:Dyrk1a UTSW 16 94,485,979 (GRCm39) missense probably benign 0.02
R7036:Dyrk1a UTSW 16 94,487,427 (GRCm39) missense probably benign 0.09
R7326:Dyrk1a UTSW 16 94,492,902 (GRCm39) missense probably damaging 0.97
R7861:Dyrk1a UTSW 16 94,492,575 (GRCm39) nonsense probably null
R7916:Dyrk1a UTSW 16 94,474,200 (GRCm39) missense probably damaging 1.00
R8310:Dyrk1a UTSW 16 94,492,650 (GRCm39) missense probably benign 0.02
R8669:Dyrk1a UTSW 16 94,464,650 (GRCm39) missense probably damaging 1.00
R8698:Dyrk1a UTSW 16 94,487,414 (GRCm39) missense possibly damaging 0.77
R8920:Dyrk1a UTSW 16 94,460,488 (GRCm39) missense probably benign
R8945:Dyrk1a UTSW 16 94,466,866 (GRCm39) missense probably damaging 1.00
R9233:Dyrk1a UTSW 16 94,466,913 (GRCm39) missense probably benign 0.00
R9390:Dyrk1a UTSW 16 94,474,330 (GRCm39) missense probably damaging 1.00
R9391:Dyrk1a UTSW 16 94,460,373 (GRCm39) missense possibly damaging 0.95
RF010:Dyrk1a UTSW 16 94,478,422 (GRCm39) missense probably benign
Z1176:Dyrk1a UTSW 16 94,492,621 (GRCm39) missense probably benign 0.06
Z1177:Dyrk1a UTSW 16 94,492,439 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACACATGCTTAAGTGTTATGTGCAG -3'
(R):5'- AGACTGAGACTGCTCCATCG -3'

Sequencing Primer
(F):5'- CACAAAGCCTTGTACATTTGGAG -3'
(R):5'- ATCGCAGGGCTGGTAGACAC -3'
Posted On 2014-11-11