Incidental Mutation 'R6802:Prkra'
ID 533369
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 044915-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R6802 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 76460242-76478359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76463881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 260 (D260E)
Ref Sequence ENSEMBL: ENSMUSP00000002808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002808]
AlphaFold Q9WTX2
Predicted Effect probably damaging
Transcript: ENSMUST00000002808
AA Change: D260E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: D260E

DomainStartEndE-ValueType
DSRM 35 100 4.63e-24 SMART
DSRM 127 193 2.23e-17 SMART
DSRM 241 307 1.16e-6 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (54/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik A T 7: 115,698,725 (GRCm39) K38N probably damaging Het
Agap3 T A 5: 24,692,791 (GRCm39) I408N possibly damaging Het
Apold1 G A 6: 134,960,693 (GRCm39) R49H probably damaging Het
Arfgef1 A T 1: 10,259,677 (GRCm39) M597K probably benign Het
Bsn C T 9: 107,987,823 (GRCm39) probably benign Het
Ccdc177 A T 12: 80,806,057 (GRCm39) D72E probably damaging Het
Coa8 G T 12: 111,717,625 (GRCm39) G162W probably benign Het
Ctdp1 A T 18: 80,463,656 (GRCm39) probably null Het
Ctsj A T 13: 61,150,888 (GRCm39) L190M probably benign Het
Dhx57 A G 17: 80,582,750 (GRCm39) F285S probably benign Het
Dnah2 A T 11: 69,314,516 (GRCm39) V4051E probably damaging Het
F5 A T 1: 164,006,925 (GRCm39) D243V probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fbxo30 G T 10: 11,167,224 (GRCm39) G649C probably damaging Het
Focad T C 4: 88,192,440 (GRCm39) S590P unknown Het
Focad G A 4: 88,262,921 (GRCm39) V973I unknown Het
Glb1l3 T C 9: 26,770,648 (GRCm39) probably null Het
Gli2 G A 1: 118,769,795 (GRCm39) R586C probably damaging Het
Gm6401 T A 14: 41,788,874 (GRCm39) E65V probably damaging Het
Gml2 T A 15: 74,696,095 (GRCm39) L163H probably damaging Het
Grm6 A T 11: 50,744,216 (GRCm39) Q229L probably benign Het
Gtf2h2 T C 13: 100,617,051 (GRCm39) M252V probably benign Het
Hsf4 G A 8: 106,001,300 (GRCm39) G309S probably damaging Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Irgq A G 7: 24,231,076 (GRCm39) E89G probably benign Het
Kcnj6 T C 16: 94,563,436 (GRCm39) N354S probably benign Het
Lrguk A G 6: 34,039,392 (GRCm39) H301R probably damaging Het
Mc4r C A 18: 66,992,488 (GRCm39) M208I probably benign Het
Mrpl15 A G 1: 4,846,953 (GRCm39) S208P probably benign Het
Neil2 A G 14: 63,429,263 (GRCm39) F10S probably damaging Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Or12k7 A G 2: 36,958,427 (GRCm39) M37V probably benign Het
Or4c100 A G 2: 88,355,941 (GRCm39) T5A probably benign Het
Or8k22 G T 2: 86,163,529 (GRCm39) T57K possibly damaging Het
Pacs1 T C 19: 5,202,812 (GRCm39) I357V probably damaging Het
Pla2g15 T C 8: 106,877,213 (GRCm39) L32P probably damaging Het
Pms1 A T 1: 53,245,951 (GRCm39) S529R probably benign Het
Qsox1 A C 1: 155,671,139 (GRCm39) F127V probably damaging Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Robo1 T G 16: 72,730,201 (GRCm39) V214G probably benign Het
Ryr2 G A 13: 11,701,852 (GRCm39) A2935V probably damaging Het
Sgtb A T 13: 104,268,558 (GRCm39) Q198L probably benign Het
Slc39a12 C T 2: 14,424,896 (GRCm39) L376F probably benign Het
Socs1 C A 16: 10,602,222 (GRCm39) V172L probably benign Het
Sprr2k A G 3: 92,340,671 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,939 (GRCm39) probably benign Het
Tph2 A T 10: 115,020,778 (GRCm39) M6K probably damaging Het
Trav16 T A 14: 53,980,941 (GRCm39) C43* probably null Het
Ttll5 A G 12: 85,926,160 (GRCm39) E318G probably damaging Het
Vmn2r90 T A 17: 17,932,351 (GRCm39) I86N probably damaging Het
Zdhhc19 T C 16: 32,325,176 (GRCm39) S165P possibly damaging Het
Zfp352 A T 4: 90,113,437 (GRCm39) T526S probably benign 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
R1609:Prkra UTSW 2 76,463,936 (GRCm39) missense probably benign 0.06
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
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'- GGGATATCACATTGTTCTGATGC -3'
(R):5'- CGAACGTGGTTGGACATTCC -3'

Sequencing Primer
(F):5'- TCATGACACTAAACATGCATGTAC -3'
(R):5'- GGACATTCCCTAGGATGCACTTG -3'
Posted On 2018-09-12