Incidental Mutation 'R1767:Prkra'
ID 194442
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R1767 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 76460242-76478359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76477584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 40 (H40Q)
Ref Sequence ENSEMBL: ENSMUSP00000002808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002808] [ENSMUST00000099986] [ENSMUST00000144817] [ENSMUST00000153471]
AlphaFold Q9WTX2
Predicted Effect possibly damaging
Transcript: ENSMUST00000002808
AA Change: H40Q

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: H40Q

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 probably benign
Transcript: ENSMUST00000099986
SMART Domains Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267

DomainStartEndE-ValueType
Pfam:Gasdermin 1 278 7.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144817
SMART Domains Protein: ENSMUSP00000119264
Gene: ENSMUSG00000075267

DomainStartEndE-ValueType
Pfam:Gasdermin 1 184 2.2e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153471
SMART Domains Protein: ENSMUSP00000114409
Gene: ENSMUSG00000075267

DomainStartEndE-ValueType
Pfam:Gasdermin 1 68 3.1e-18 PFAM
Meta Mutation Damage Score 0.0910 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik T C 4: 124,743,754 (GRCm39) N128S possibly damaging Het
Adam26b T A 8: 43,972,948 (GRCm39) I685F probably benign Het
Adgrf5 A T 17: 43,761,455 (GRCm39) Y1050F possibly damaging Het
Alcam A T 16: 52,091,077 (GRCm39) N480K probably damaging Het
Alk T A 17: 72,207,693 (GRCm39) H1014L possibly damaging Het
Arhgef2 A G 3: 88,551,260 (GRCm39) Q778R probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Ascc3 T A 10: 50,594,472 (GRCm39) I1189N probably damaging Het
AU040320 G A 4: 126,734,517 (GRCm39) G713D probably damaging Het
Bmpr1a A G 14: 34,169,727 (GRCm39) probably null Het
Bpifa6 A G 2: 153,829,147 (GRCm39) T225A possibly damaging Het
Cacna1g T C 11: 94,350,628 (GRCm39) S406G probably benign Het
Ccdc198 G A 14: 49,473,341 (GRCm39) T128I probably benign Het
Ccdc40 T A 11: 119,121,522 (GRCm39) probably null Het
Cckbr A T 7: 105,083,758 (GRCm39) I229F possibly damaging Het
Cers3 A G 7: 66,433,151 (GRCm39) K156R probably damaging Het
Chd1 T A 17: 15,990,565 (GRCm39) W1706R probably damaging Het
Col11a2 T A 17: 34,282,869 (GRCm39) probably benign Het
Coq10b A G 1: 55,100,513 (GRCm39) R66G probably damaging Het
Cpn2 A T 16: 30,078,485 (GRCm39) Y405* probably null Het
Dis3 A T 14: 99,321,578 (GRCm39) Y590N probably damaging Het
Dpy19l1 T C 9: 24,373,880 (GRCm39) H270R probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ephx1 C T 1: 180,822,242 (GRCm39) G101S probably damaging Het
Flg A T 3: 93,187,220 (GRCm39) Y224F possibly damaging Het
Focad G T 4: 88,275,705 (GRCm39) V1105L unknown Het
Fzd1 A G 5: 4,806,812 (GRCm39) Y257H probably benign Het
Gm11116 T C 5: 88,259,311 (GRCm39) probably benign Het
Gm11938 G A 11: 99,494,071 (GRCm39) S8F unknown Het
Grin3a A T 4: 49,844,423 (GRCm39) V220E probably damaging Het
Gstt2 T C 10: 75,670,098 (GRCm39) D8G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hook3 A G 8: 26,561,084 (GRCm39) probably null Het
Itpr2 T C 6: 146,251,566 (GRCm39) D993G possibly damaging Het
Jhy T C 9: 40,872,444 (GRCm39) R22G probably benign Het
Krt13 A C 11: 100,011,926 (GRCm39) H132Q possibly damaging Het
Krtap27-1 G A 16: 88,468,199 (GRCm39) S115L probably damaging Het
L1td1 T C 4: 98,625,686 (GRCm39) V627A probably benign Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Ly96 A G 1: 16,776,399 (GRCm39) T112A probably benign Het
Meltf G T 16: 31,702,747 (GRCm39) C158F probably damaging Het
Mycbp2 A T 14: 103,485,841 (GRCm39) H1040Q probably damaging Het
Npas4 G A 19: 5,038,211 (GRCm39) P199L probably benign Het
Or12j3 T C 7: 139,953,389 (GRCm39) I45V possibly damaging Het
Or52r1 T A 7: 102,536,833 (GRCm39) I176F probably damaging Het
Or8k3b A G 2: 86,520,728 (GRCm39) M197T probably benign Het
Pcdh10 A T 3: 45,338,612 (GRCm39) H923L probably damaging Het
Pias3 T C 3: 96,608,719 (GRCm39) S228P probably damaging Het
Pign A G 1: 105,580,917 (GRCm39) V154A probably benign Het
Plod3 T A 5: 137,019,030 (GRCm39) V305E possibly damaging Het
Prss22 T A 17: 24,215,331 (GRCm39) E148D probably benign Het
Psg17 A G 7: 18,550,727 (GRCm39) V376A possibly damaging Het
Retnlg A T 16: 48,693,991 (GRCm39) D49V possibly damaging Het
Rnf26rt A T 6: 76,474,588 (GRCm39) N9K unknown Het
Rtp1 A G 16: 23,250,124 (GRCm39) E163G probably damaging Het
Slc6a20a T A 9: 123,466,165 (GRCm39) I522F probably damaging Het
Slco5a1 T C 1: 13,059,839 (GRCm39) D294G probably damaging Het
Slco6d1 A G 1: 98,418,274 (GRCm39) T487A possibly damaging Het
Smarcc2 A T 10: 128,304,951 (GRCm39) D262V possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Ssbp3 G T 4: 106,904,612 (GRCm39) D336Y probably damaging Het
Sun2 A G 15: 79,609,758 (GRCm39) S694P probably benign Het
Tdp1 G A 12: 99,857,602 (GRCm39) probably null Het
Tfap2a A T 13: 40,878,613 (GRCm39) I204N probably damaging Het
Tfip11 T A 5: 112,482,298 (GRCm39) W519R probably damaging Het
Tie1 T C 4: 118,333,373 (GRCm39) E831G possibly damaging Het
Tjp1 A G 7: 64,962,301 (GRCm39) probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tmem39b A C 4: 129,586,976 (GRCm39) I78M possibly damaging Het
Trank1 T C 9: 111,220,547 (GRCm39) V2428A probably benign Het
Trim35 A G 14: 66,541,617 (GRCm39) E247G probably damaging Het
Tsc22d1 T C 14: 76,655,542 (GRCm39) S674P probably damaging Het
Tsn A T 1: 118,228,618 (GRCm39) D201E probably damaging Het
Usp42 A T 5: 143,700,621 (GRCm39) V1134E possibly damaging Het
Uvrag A G 7: 98,748,601 (GRCm39) I117T probably damaging Het
Vmn1r192 A G 13: 22,371,441 (GRCm39) S260P probably benign Het
Vmn2r110 C T 17: 20,800,840 (GRCm39) A531T possibly damaging Het
Wdsub1 A T 2: 59,689,058 (GRCm39) I388N probably damaging Het
Wnt10b A T 15: 98,670,556 (GRCm39) L228Q probably damaging Het
Zbtb34 A C 2: 33,301,348 (GRCm39) S398A possibly 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
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
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'- TCTTAGCGAGACAGAACTAGGGAGC -3'
(R):5'- TGTCGGGCAGCATTCTGGGTAAAG -3'

Sequencing Primer
(F):5'- GGAGTCTCTTGTCTTCAGAGTACAC -3'
(R):5'- GTGTCTAGCTGCCTAGTCCAAG -3'
Posted On 2014-05-23