Incidental Mutation 'IGL02962:Prkra'
ID365398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkra
Ensembl Gene ENSMUSG00000002731
Gene Nameprotein kinase, interferon inducible double stranded RNA dependent activator
Synonymslear, PRK, Pact, RAX
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.559) question?
Stock #IGL02962
Quality Score
Status
Chromosome2
Chromosomal Location76629898-76648015 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 76633547 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 257 (T257M)
Ref Sequence ENSEMBL: ENSMUSP00000002808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002808]
Predicted Effect probably damaging
Transcript: ENSMUST00000002808
AA Change: T257M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: T257M

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
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,610,593 probably null Het
9530068E07Rik T C 11: 52,403,535 V209A possibly damaging Het
Abca3 T A 17: 24,400,409 V907E probably damaging Het
Acvrl1 T C 15: 101,135,501 Y90H probably benign Het
Aff3 T C 1: 38,535,656 D81G probably damaging Het
Amn G T 12: 111,274,517 V152L probably damaging Het
Arhgap44 A G 11: 65,067,161 probably benign Het
Atad5 T A 11: 80,108,579 V895D possibly damaging Het
Card9 T G 2: 26,358,017 probably null Het
Ccer1 T C 10: 97,693,840 S122P unknown Het
Ccr2 A G 9: 124,105,675 probably benign Het
Dsg1a T A 18: 20,340,324 I818N possibly damaging Het
Ear10 G T 14: 43,923,317 L18I probably damaging Het
Gm13089 T A 4: 143,697,340 E293V probably benign Het
Mertk A G 2: 128,777,454 Y544C probably damaging Het
Miga1 A T 3: 152,285,341 probably benign Het
Myo18a T C 11: 77,778,235 V307A probably damaging Het
Olfr1354 T A 10: 78,916,939 L33H probably damaging Het
Olfr488 A T 7: 108,255,703 I145N possibly damaging Het
Pou2f3 T C 9: 43,125,089 probably benign Het
Prickle2 A C 6: 92,376,422 S744A probably benign Het
Prkcb T A 7: 122,425,047 probably null Het
Prkd2 A G 7: 16,869,832 T813A probably benign Het
Rbm18 C T 2: 36,122,874 R102Q probably damaging Het
Rbsn A G 6: 92,190,326 S446P probably benign Het
Rpgrip1l A T 8: 91,270,362 V28D possibly damaging Het
Sdccag8 A T 1: 176,948,362 K613I probably damaging Het
Serbp1 G A 6: 67,267,119 G8D probably damaging Het
Slc6a2 T A 8: 92,972,762 Y139* probably null Het
Slc7a2 T A 8: 40,905,584 F321L probably damaging Het
Slco1b2 G A 6: 141,648,553 S48N probably damaging Het
Ssbp2 G T 13: 91,642,371 V118L possibly damaging Het
Sugp1 T A 8: 70,059,862 probably benign Het
Taar5 C A 10: 23,970,985 R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 A353S probably benign Het
Trav1 A G 14: 52,428,642 E32G probably damaging Het
Trp53bp2 T C 1: 182,431,595 V71A probably benign Het
Vmn2r50 T C 7: 10,050,325 Y74C probably damaging Het
Wars A T 12: 108,875,780 M147K probably damaging Het
Other mutations in Prkra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Prkra APN 2 76630436 missense probably damaging 1.00
IGL02016:Prkra APN 2 76643309 splice site probably null
IGL02823:Prkra APN 2 76630424 missense probably damaging 1.00
IGL03265:Prkra APN 2 76640270 missense probably benign 0.06
R1520:Prkra UTSW 2 76639278 missense possibly damaging 0.62
R1609:Prkra UTSW 2 76633592 missense probably benign 0.06
R1751:Prkra UTSW 2 76647240 missense possibly damaging 0.63
R1767:Prkra UTSW 2 76647240 missense possibly damaging 0.63
R2131:Prkra UTSW 2 76647136 missense probably damaging 1.00
R5288:Prkra UTSW 2 76639278 missense probably damaging 0.99
R5385:Prkra UTSW 2 76639278 missense probably damaging 0.99
R5386:Prkra UTSW 2 76639278 missense probably damaging 0.99
R6802:Prkra UTSW 2 76633537 missense probably damaging 1.00
R6918:Prkra UTSW 2 76630453 missense probably damaging 1.00
R7445:Prkra UTSW 2 76633598 missense probably benign 0.25
R7471:Prkra UTSW 2 76647201 missense probably benign 0.01
R8181:Prkra UTSW 2 76639290 missense probably damaging 1.00
R8290:Prkra UTSW 2 76633638 missense probably damaging 0.98
Posted On2015-12-18