Incidental Mutation 'R9115:Prkra'
ID 692452
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R9115 (G1)
Quality Score 192.009
Status Not validated
Chromosome 2
Chromosomal Location 76460242-76478359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76478193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 3 (H3L)
Ref Sequence ENSEMBL: ENSMUSP00000002808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002808] [ENSMUST00000099986] [ENSMUST00000144817] [ENSMUST00000153471]
AlphaFold Q9WTX2
Predicted Effect probably benign
Transcript: ENSMUST00000002808
AA Change: H3L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: H3L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aire T C 10: 77,879,309 (GRCm39) T17A Het
Ankrd31 T C 13: 96,940,773 (GRCm39) probably null Het
Brwd1 C T 16: 95,848,314 (GRCm39) R569K probably damaging Het
Capns1 A T 7: 29,889,978 (GRCm39) I177K probably benign Het
Ccdc182 A G 11: 88,185,343 (GRCm39) N141S probably benign Het
Celsr1 A G 15: 85,803,217 (GRCm39) W2441R probably damaging Het
Cftr A T 6: 18,235,310 (GRCm39) R516S probably damaging Het
Ckap4 C T 10: 84,363,507 (GRCm39) V519M probably damaging Het
Col27a1 C T 4: 63,231,974 (GRCm39) P1277L unknown Het
Cspg4 T C 9: 56,797,736 (GRCm39) L1400P probably damaging Het
Cyp4f39 T A 17: 32,711,296 (GRCm39) F481Y probably damaging Het
Dmxl2 T C 9: 54,309,011 (GRCm39) I1913M probably benign Het
Dock10 T C 1: 80,490,156 (GRCm39) T1989A probably damaging Het
Eef2 CC CCC 10: 81,014,603 (GRCm39) probably null Het
Fcgbpl1 G A 7: 27,853,754 (GRCm39) V1573I possibly damaging Het
Fshr T A 17: 89,292,948 (GRCm39) I577F probably damaging Het
Gfm2 T C 13: 97,301,707 (GRCm39) probably null Het
Gm12695 T C 4: 96,657,846 (GRCm39) N108D possibly damaging Het
Gm3285 T A 10: 77,698,007 (GRCm39) L52H unknown Het
Gm5930 A T 14: 44,575,006 (GRCm39) L95* probably null Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Klhl26 A G 8: 70,904,896 (GRCm39) M338T possibly damaging Het
Lrrc4c T C 2: 97,459,686 (GRCm39) I104T probably benign Het
Mapk10 A T 5: 103,186,532 (GRCm39) V60E Het
Mfsd4b3-ps T A 10: 39,824,012 (GRCm39) K83* probably null Het
Muc15 C T 2: 110,562,089 (GRCm39) T175I probably damaging Het
Nmu G A 5: 76,511,572 (GRCm39) probably benign Het
Nol4l G T 2: 153,253,638 (GRCm39) T645K probably damaging Het
Nr2f1 A G 13: 78,337,869 (GRCm39) S416P probably benign Het
Ntn4 A C 10: 93,569,675 (GRCm39) I463L probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or12k7 T C 2: 36,959,052 (GRCm39) L245P probably damaging Het
Or52h2 C A 7: 103,838,931 (GRCm39) C161F possibly damaging Het
Or8h8 T A 2: 86,752,998 (GRCm39) R293W probably damaging Het
Pccb T A 9: 100,869,908 (GRCm39) N341I probably damaging Het
Pgm3 G A 9: 86,447,662 (GRCm39) L194F probably damaging Het
Rbm12 TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC 2: 155,938,030 (GRCm39) probably benign Het
Ryr1 T A 7: 28,803,989 (GRCm39) K600* probably null Het
Sema4d A T 13: 51,877,596 (GRCm39) S79T probably benign Het
Slc37a1 T C 17: 31,534,486 (GRCm39) C53R probably damaging Het
Sptbn1 A G 11: 30,087,526 (GRCm39) I971T probably damaging Het
Tcstv1a T A 13: 120,355,453 (GRCm39) I60F possibly damaging Het
Tdrkh G T 3: 94,335,598 (GRCm39) C397F possibly damaging Het
Tecrl A T 5: 83,427,906 (GRCm39) M314K possibly damaging Het
Ttn T C 2: 76,780,496 (GRCm39) K1131R unknown Het
Uimc1 A T 13: 55,198,584 (GRCm39) Y531N possibly damaging Het
Usp5 A G 6: 124,803,384 (GRCm39) S39P probably damaging Het
Virma A G 4: 11,498,744 (GRCm39) T62A probably benign Het
Vmn2r85 A G 10: 130,254,153 (GRCm39) Y844H probably benign Het
Yars1 T C 4: 129,109,143 (GRCm39) V458A probably benign Het
Zfp235 G A 7: 23,841,453 (GRCm39) C624Y probably damaging Het
Zfp712 A T 13: 67,189,241 (GRCm39) S429T probably damaging Het
Zmynd11 A T 13: 9,743,495 (GRCm39) D307E 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
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
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
R9290:Prkra UTSW 2 76,478,147 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATCAAGTCCTCCCGATCG -3'
(R):5'- TGAGCACTGTGGCAAAGTGG -3'

Sequencing Primer
(F):5'- AAGTCCTCCCGATCGGCTAG -3'
(R):5'- CATCGAGGGGCTGAGCATG -3'
Posted On 2021-12-30