Incidental Mutation 'R1609:Prkra'
ID 176659
Institutional Source Beutler Lab
Gene Symbol Prkra
Ensembl Gene ENSMUSG00000002731
Gene Name protein kinase, interferon inducible double stranded RNA dependent activator
Synonyms Pact, RAX, PRK, lear
MMRRC Submission 039646-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R1609 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 76460242-76478359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76463936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 242 (I242N)
Ref Sequence ENSEMBL: ENSMUSP00000002808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002808]
AlphaFold Q9WTX2
Predicted Effect probably benign
Transcript: ENSMUST00000002808
AA Change: I242N

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: I242N

DomainStartEndE-ValueType
DSRM 35 100 4.63e-24 SMART
DSRM 127 193 2.23e-17 SMART
DSRM 241 307 1.16e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140493
Meta Mutation Damage Score 0.0799 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.1%
Validation Efficiency 96% (49/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a deletion of the entire gene show embryonic lethality prior to implantation. Mice homozygous for a deletion in the last exon are viable but exhibit small size, turbinate hypoplasia, short snout, severe microtia, outer and middle ear defects, and impaired hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 C T 12: 84,039,630 (GRCm39) R380C possibly damaging Het
Allc A T 12: 28,603,993 (GRCm39) D363E probably damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
App C A 16: 84,876,837 (GRCm39) V185L probably damaging Het
Atp5if1 T C 4: 132,258,078 (GRCm39) D47G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cbr4 T A 8: 61,956,192 (GRCm39) Y220N probably damaging Het
Ccdc6 C A 10: 70,002,877 (GRCm39) Q203K probably damaging Het
Cntnap2 T C 6: 45,992,264 (GRCm39) V397A probably benign Het
Dmxl2 A G 9: 54,316,547 (GRCm39) I1613T possibly damaging Het
Dnah14 T C 1: 181,577,742 (GRCm39) S3020P probably damaging Het
Dnah7b T C 1: 46,392,126 (GRCm39) L3829P probably damaging Het
Fbxw25 C T 9: 109,492,578 (GRCm39) C53Y probably benign Het
Fndc1 G T 17: 7,991,598 (GRCm39) H699Q unknown Het
Gnaq G A 19: 16,360,618 (GRCm39) V314M possibly damaging Het
Gpr158 A G 2: 21,788,104 (GRCm39) T582A possibly damaging Het
Mapk1 T C 16: 16,856,170 (GRCm39) probably benign Het
Med1 T A 11: 98,051,996 (GRCm39) H456L possibly damaging Het
Myo6 G A 9: 80,195,499 (GRCm39) probably null Het
Nipbl A G 15: 8,396,148 (GRCm39) Y142H probably damaging Het
Or4c113 A T 2: 88,885,688 (GRCm39) F27L probably benign Het
Or8k24 A G 2: 86,215,838 (GRCm39) I308T probably benign Het
Or8k33 A C 2: 86,383,949 (GRCm39) V173G probably damaging Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pnisr G T 4: 21,871,440 (GRCm39) G387* probably null Het
Pnpla6 T C 8: 3,567,135 (GRCm39) L61P probably damaging Het
Rp1 A G 1: 4,419,424 (GRCm39) S563P probably damaging Het
Rtp3 A G 9: 110,815,085 (GRCm39) probably benign Het
Sema3d A G 5: 12,591,023 (GRCm39) T301A probably damaging Het
Setmar A G 6: 108,053,076 (GRCm39) D190G probably benign Het
Sf3b2 A G 19: 5,345,061 (GRCm39) probably benign Het
Taf4b A G 18: 14,968,938 (GRCm39) K692E probably damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tspan4 A G 7: 141,071,557 (GRCm39) T135A probably damaging Het
Vmn1r22 G T 6: 57,877,733 (GRCm39) Y81* probably null Het
Vmn2r31 T C 7: 7,387,888 (GRCm39) E561G probably damaging Het
Xrn1 A T 9: 95,856,946 (GRCm39) K389N probably benign Het
Zfp277 A T 12: 40,378,719 (GRCm39) N379K probably damaging Het
Other mutations in Prkra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Prkra APN 2 76,460,780 (GRCm39) missense probably damaging 1.00
IGL02016:Prkra APN 2 76,473,653 (GRCm39) splice site probably null
IGL02823:Prkra APN 2 76,460,768 (GRCm39) missense probably damaging 1.00
IGL02962:Prkra APN 2 76,463,891 (GRCm39) missense probably damaging 1.00
IGL03265:Prkra APN 2 76,470,614 (GRCm39) missense probably benign 0.06
smallear UTSW 2 76,460,879 (GRCm39) missense probably damaging 1.00
R1520:Prkra UTSW 2 76,469,622 (GRCm39) missense possibly damaging 0.62
R1751:Prkra UTSW 2 76,477,584 (GRCm39) missense possibly damaging 0.63
R1767:Prkra UTSW 2 76,477,584 (GRCm39) missense possibly damaging 0.63
R2131:Prkra UTSW 2 76,477,480 (GRCm39) missense probably damaging 1.00
R5288:Prkra UTSW 2 76,469,622 (GRCm39) missense probably damaging 0.99
R5385:Prkra UTSW 2 76,469,622 (GRCm39) missense probably damaging 0.99
R5386:Prkra UTSW 2 76,469,622 (GRCm39) missense probably damaging 0.99
R6802:Prkra UTSW 2 76,463,881 (GRCm39) missense probably damaging 1.00
R6918:Prkra UTSW 2 76,460,797 (GRCm39) missense probably damaging 1.00
R7445:Prkra UTSW 2 76,463,942 (GRCm39) missense probably benign 0.25
R7471:Prkra UTSW 2 76,477,545 (GRCm39) missense probably benign 0.01
R8181:Prkra UTSW 2 76,469,634 (GRCm39) missense probably damaging 1.00
R8290:Prkra UTSW 2 76,463,982 (GRCm39) missense probably damaging 0.98
R8749:Prkra UTSW 2 76,460,879 (GRCm39) missense probably damaging 1.00
R9035:Prkra UTSW 2 76,460,856 (GRCm39) missense probably benign 0.00
R9101:Prkra UTSW 2 76,478,184 (GRCm39) missense probably benign 0.04
R9115:Prkra UTSW 2 76,478,193 (GRCm39) missense probably benign
R9290:Prkra UTSW 2 76,478,147 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTGGTGTTTTGCTCCCATAATCCC -3'
(R):5'- GCAAGCATTTGCTGCACTGAGG -3'

Sequencing Primer
(F):5'- TAATCCCACCCAGCCCTTG -3'
(R):5'- acccatctctccatcccc -3'
Posted On 2014-04-24