Incidental Mutation 'R5693:Prkar1b'
ID 443766
Institutional Source Beutler Lab
Gene Symbol Prkar1b
Ensembl Gene ENSMUSG00000025855
Gene Name protein kinase, cAMP dependent regulatory, type I beta
Synonyms RIbeta
MMRRC Submission 043180-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R5693 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 139003061-139135756 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139113400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000122693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026973] [ENSMUST00000110890] [ENSMUST00000129851] [ENSMUST00000134762] [ENSMUST00000147505] [ENSMUST00000148002] [ENSMUST00000155833]
AlphaFold P12849
Predicted Effect probably benign
Transcript: ENSMUST00000026973
AA Change: V40A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026973
Gene: ENSMUSG00000025855
AA Change: V40A

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
cNMP 137 253 1.07e-28 SMART
cNMP 255 374 3.95e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110890
AA Change: V40A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106515
Gene: ENSMUSG00000025855
AA Change: V40A

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
cNMP 137 253 1.07e-28 SMART
cNMP 255 374 3.95e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129851
AA Change: V40A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121093
Gene: ENSMUSG00000025855
AA Change: V40A

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
cNMP 137 235 1.24e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000134762
AA Change: V40A

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116022
Gene: ENSMUSG00000025855
AA Change: V40A

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147505
AA Change: V40A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116727
Gene: ENSMUSG00000025855
AA Change: V40A

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148002
AA Change: V40A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123286
Gene: ENSMUSG00000025855
AA Change: V40A

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
cNMP 137 250 8.27e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000155833
AA Change: V40A

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122693
Gene: ENSMUSG00000025855
AA Change: V40A

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have reduced LTD and LTP in specific CNS tracts, but normal neuroanatomy and behavior. Response to pain after inflammation is reduced, concurrent with decreased plasma extravasation during the inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,266,233 (GRCm39) I3071V probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Abr T C 11: 76,354,403 (GRCm39) N236S probably damaging Het
Adcy6 T C 15: 98,501,870 (GRCm39) Y248C probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Chd6 A T 2: 160,807,185 (GRCm39) S2010T probably benign Het
Dcc G A 18: 71,708,153 (GRCm39) T521I probably damaging Het
Dmrtb1 G A 4: 107,541,366 (GRCm39) probably benign Het
Evc A G 5: 37,477,584 (GRCm39) V365A possibly damaging Het
Gata4 A G 14: 63,478,594 (GRCm39) Y2H probably damaging Het
Gpc1 A G 1: 92,785,621 (GRCm39) N437S probably damaging Het
Lifr T C 15: 7,205,041 (GRCm39) V426A probably damaging Het
Lpin3 A G 2: 160,737,320 (GRCm39) I122M probably benign Het
Muc4 A G 16: 32,597,181 (GRCm39) N3174D possibly damaging Het
Myo6 G A 9: 80,173,462 (GRCm39) R534H probably damaging Het
Nectin2 T C 7: 19,458,794 (GRCm39) D339G probably benign Het
Oprd1 G A 4: 131,871,721 (GRCm39) probably benign Het
Or6c66 T C 10: 129,461,396 (GRCm39) D178G probably damaging Het
Orc1 G A 4: 108,470,276 (GRCm39) V751I probably benign Het
Pacs2 T C 12: 113,013,526 (GRCm39) S175P probably damaging Het
Pik3r5 C T 11: 68,385,077 (GRCm39) R661C probably damaging Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Ptprf G A 4: 118,093,374 (GRCm39) R90* probably null Het
Rasef T C 4: 73,688,076 (GRCm39) M26V probably damaging Het
Rfx1 C A 8: 84,800,533 (GRCm39) Q45K unknown Het
Rnf183 A G 4: 62,346,753 (GRCm39) V15A possibly damaging Het
Slc10a2 C A 8: 5,155,128 (GRCm39) C19F probably damaging Het
Slc14a2 T A 18: 78,190,229 (GRCm39) I907F probably benign Het
Snx16 T C 3: 10,485,318 (GRCm39) I293V probably benign Het
Srcap C A 7: 127,118,988 (GRCm39) A97E probably damaging Het
Thyn1 G T 9: 26,916,511 (GRCm39) probably null Het
Tiparp T C 3: 65,460,913 (GRCm39) I634T possibly damaging Het
Tjp1 G A 7: 64,992,411 (GRCm39) A156V possibly damaging Het
Tmem168 T C 6: 13,602,320 (GRCm39) M349V probably benign Het
Tyro3 T G 2: 119,641,349 (GRCm39) F519L probably damaging Het
Vmn1r167 A T 7: 23,204,646 (GRCm39) Y123* probably null Het
Vmn1r183 C T 7: 23,754,227 (GRCm39) T10I possibly damaging Het
Zfp654 T C 16: 64,606,289 (GRCm39) T97A probably benign Het
Other mutations in Prkar1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0470:Prkar1b UTSW 5 139,036,504 (GRCm39) missense probably damaging 0.98
R0558:Prkar1b UTSW 5 139,005,847 (GRCm39) missense probably benign 0.04
R1512:Prkar1b UTSW 5 139,036,428 (GRCm39) nonsense probably null
R1982:Prkar1b UTSW 5 139,113,398 (GRCm39) missense probably benign 0.06
R4231:Prkar1b UTSW 5 139,094,376 (GRCm39) missense probably benign 0.00
R5326:Prkar1b UTSW 5 139,113,544 (GRCm39) splice site probably null
R5350:Prkar1b UTSW 5 139,092,383 (GRCm39) missense probably damaging 1.00
R7136:Prkar1b UTSW 5 139,094,363 (GRCm39) missense probably benign 0.00
R8750:Prkar1b UTSW 5 139,036,451 (GRCm39) missense probably damaging 1.00
R9382:Prkar1b UTSW 5 139,036,442 (GRCm39) missense probably damaging 1.00
R9761:Prkar1b UTSW 5 139,092,410 (GRCm39) missense probably benign 0.00
RF009:Prkar1b UTSW 5 139,094,376 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGGGCCTTATTCATGGGAG -3'
(R):5'- TCCTAAAGCTGATTGTGTCATCTG -3'

Sequencing Primer
(F):5'- TCTAGGAAGGGGCTCTACCATG -3'
(R):5'- TGTGTCATCTGTAACAGGAGCATAG -3'
Posted On 2016-11-09