Incidental Mutation 'IGL02016:Prkra'
ID 183774
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02016
Quality Score
Status
Chromosome 2
Chromosomal Location 76460242-76478359 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 76473653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002808]
AlphaFold Q9WTX2
Predicted Effect probably null
Transcript: ENSMUST00000002808
SMART Domains Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik C A 2: 127,028,875 (GRCm39) G108V probably damaging Het
A2ml1 T C 6: 128,535,298 (GRCm39) E804G probably damaging Het
Abcg4 G A 9: 44,198,647 (GRCm39) T35M probably damaging Het
Acad9 A T 3: 36,142,635 (GRCm39) probably null Het
Adgrv1 T C 13: 81,545,572 (GRCm39) D5571G probably damaging Het
App T A 16: 84,853,409 (GRCm39) D223V unknown Het
Arhgap30 A G 1: 171,235,315 (GRCm39) E563G probably damaging Het
Atp6v1e2 A T 17: 87,251,822 (GRCm39) V192D probably damaging Het
Atr G A 9: 95,809,228 (GRCm39) V1969I probably benign Het
Bean1 T C 8: 104,937,550 (GRCm39) L43S possibly damaging Het
Cand1 A G 10: 119,048,473 (GRCm39) V436A probably damaging Het
Card6 T C 15: 5,137,738 (GRCm39) I39V probably damaging Het
Ccdc73 A G 2: 104,805,961 (GRCm39) T300A probably benign Het
Ccdc88c T C 12: 100,907,466 (GRCm39) T962A possibly damaging Het
Chd6 G T 2: 160,825,598 (GRCm39) L1169I probably damaging Het
Chrna7 A T 7: 62,753,583 (GRCm39) V312E probably damaging Het
Dna2 A G 10: 62,796,191 (GRCm39) N540S probably benign Het
Elavl2 T C 4: 91,149,172 (GRCm39) E209G probably damaging Het
Elmo2 A G 2: 165,136,932 (GRCm39) probably null Het
Fto A T 8: 92,393,034 (GRCm39) R494* probably null Het
Garre1 A G 7: 33,938,526 (GRCm39) M791T possibly damaging Het
Gm9966 A T 7: 95,608,014 (GRCm39) T112S unknown Het
Gtf3c1 A C 7: 125,267,211 (GRCm39) I940S probably damaging Het
Hecw2 C A 1: 53,870,702 (GRCm39) Q1426H possibly damaging Het
Iars2 A C 1: 185,035,503 (GRCm39) L579R probably damaging Het
Ifih1 A C 2: 62,437,328 (GRCm39) M537R probably benign Het
Kcnmb4 A G 10: 116,282,367 (GRCm39) probably benign Het
Large2 A G 2: 92,199,888 (GRCm39) V175A possibly damaging Het
Mad2l1bp A G 17: 46,464,428 (GRCm39) probably benign Het
Muc20 A T 16: 32,617,722 (GRCm39) F14Y possibly damaging Het
Myom2 A G 8: 15,175,195 (GRCm39) E1258G probably benign Het
Or8k28 A T 2: 86,285,841 (GRCm39) M258K probably damaging Het
Parp1 A T 1: 180,426,516 (GRCm39) probably null Het
Pramel22 T A 4: 143,381,889 (GRCm39) E269V possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scd1 C T 19: 44,388,746 (GRCm39) G235S probably benign Het
Sdk1 A G 5: 142,020,184 (GRCm39) H654R possibly damaging Het
Sesn3 A G 9: 14,231,633 (GRCm39) Y188C probably damaging Het
Slc26a4 T C 12: 31,585,666 (GRCm39) M461V probably damaging Het
Slc28a2 A G 2: 122,285,822 (GRCm39) I439V probably benign Het
Smc5 T A 19: 23,251,076 (GRCm39) N36I probably benign Het
Smurf2 A G 11: 106,713,504 (GRCm39) F745S probably damaging Het
Spata22 A G 11: 73,226,857 (GRCm39) N65S possibly damaging Het
Tanc1 A G 2: 59,673,934 (GRCm39) T1680A probably benign Het
Tnxb G A 17: 34,891,249 (GRCm39) V531M probably damaging Het
Trpm3 T G 19: 22,879,433 (GRCm39) Y727* probably null Het
Tssk1 A T 16: 17,712,758 (GRCm39) Y181F probably damaging Het
Ucp3 T A 7: 100,129,766 (GRCm39) V136E probably damaging Het
Uqcrfs1 A C 13: 30,729,097 (GRCm39) V45G probably benign Het
Uvrag A G 7: 98,748,649 (GRCm39) I101T probably benign Het
Vmn1r206 A T 13: 22,804,334 (GRCm39) L291Q probably damaging Het
Wnk2 T A 13: 49,210,381 (GRCm39) I1813F probably damaging Het
Zbtb3 T A 19: 8,780,579 (GRCm39) V64E probably damaging Het
Zeb2 A G 2: 44,878,886 (GRCm39) I1115T possibly damaging Het
Zfp280b C T 10: 75,874,945 (GRCm39) L275F possibly damaging Het
Other mutations in Prkra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Prkra APN 2 76,460,780 (GRCm39) missense probably damaging 1.00
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
R9115:Prkra UTSW 2 76,478,193 (GRCm39) missense probably benign
R9290:Prkra UTSW 2 76,478,147 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07