Incidental Mutation 'R5350:Prkar1b'
ID 423750
Institutional Source Beutler Lab
Gene Symbol Prkar1b
Ensembl Gene ENSMUSG00000025855
Gene Name protein kinase, cAMP dependent regulatory, type I beta
Synonyms RIbeta
MMRRC Submission 042929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R5350 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 139003061-139135756 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 139092383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 145 (E145K)
Ref Sequence ENSEMBL: ENSMUSP00000121093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026973] [ENSMUST00000110889] [ENSMUST00000110890] [ENSMUST00000129851] [ENSMUST00000134762] [ENSMUST00000141985] [ENSMUST00000148002] [ENSMUST00000155833] [ENSMUST00000147505]
AlphaFold P12849
Predicted Effect possibly damaging
Transcript: ENSMUST00000026973
AA Change: E145K

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026973
Gene: ENSMUSG00000025855
AA Change: E145K

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 damaging
Transcript: ENSMUST00000110889
AA Change: E21K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106514
Gene: ENSMUSG00000025855
AA Change: E21K

DomainStartEndE-ValueType
cNMP 13 129 1.07e-28 SMART
cNMP 131 250 3.95e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110890
AA Change: E145K

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106515
Gene: ENSMUSG00000025855
AA Change: E145K

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 damaging
Transcript: ENSMUST00000129851
AA Change: E145K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121093
Gene: ENSMUSG00000025855
AA Change: E145K

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
cNMP 137 235 1.24e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134762
SMART Domains Protein: ENSMUSP00000116022
Gene: ENSMUSG00000025855

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000141985
AA Change: E21K

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000148002
AA Change: E145K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123286
Gene: ENSMUSG00000025855
AA Change: E145K

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
cNMP 137 250 8.27e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155833
SMART Domains Protein: ENSMUSP00000122693
Gene: ENSMUSG00000025855

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147505
SMART Domains Protein: ENSMUSP00000116727
Gene: ENSMUSG00000025855

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Abca9 A G 11: 110,006,364 (GRCm39) V1247A probably benign Het
Acaca A T 11: 84,106,699 (GRCm39) M133L probably damaging Het
Acacb C T 5: 114,382,612 (GRCm39) A2100V probably damaging Het
Adamts16 T A 13: 70,901,315 (GRCm39) K921* probably null Het
Ankrd55 T G 13: 112,472,760 (GRCm39) V144G probably damaging Het
Arap3 A G 18: 38,115,088 (GRCm39) L976P probably damaging Het
Atg2a T A 19: 6,301,368 (GRCm39) V814E probably damaging Het
Atp2b2 A T 6: 113,736,199 (GRCm39) M960K probably damaging Het
Bag1 C T 4: 40,948,007 (GRCm39) G66S possibly damaging Het
Bmp8a A T 4: 123,207,088 (GRCm39) M391K probably damaging Het
Capns1 C A 7: 29,889,551 (GRCm39) R216L probably damaging Het
Cdk13 T C 13: 17,978,515 (GRCm39) probably benign Het
Cmtm3 T C 8: 105,070,465 (GRCm39) F75L probably damaging Het
Cops4 T A 5: 100,666,405 (GRCm39) D21E possibly damaging Het
Dach1 G T 14: 98,207,395 (GRCm39) A318E probably damaging Het
Ddx27 A G 2: 166,869,780 (GRCm39) probably benign Het
Disp2 A G 2: 118,618,056 (GRCm39) T201A probably benign Het
Dnah2 G T 11: 69,406,862 (GRCm39) D214E possibly damaging Het
Dnah7b G T 1: 46,272,849 (GRCm39) G2326C probably benign Het
Dusp5 T C 19: 53,529,665 (GRCm39) F356S probably damaging Het
Duxf3 C A 10: 58,066,915 (GRCm39) S528I probably damaging Het
Ell T A 8: 70,992,439 (GRCm39) V28E probably damaging Het
Evi5 C T 5: 107,963,544 (GRCm39) D344N probably benign Het
Fv1 G T 4: 147,954,546 (GRCm39) V371L possibly damaging Het
Gemin5 A G 11: 58,032,412 (GRCm39) probably null Het
Glce A T 9: 61,967,587 (GRCm39) Y521* probably null Het
Grn T A 11: 102,327,070 (GRCm39) L556Q possibly damaging Het
Icam1 C A 9: 20,939,182 (GRCm39) Y518* probably null Het
Jag2 A T 12: 112,872,542 (GRCm39) S1237R possibly damaging Het
Macf1 A T 4: 123,421,251 (GRCm39) M1K probably null Het
Nbea T C 3: 55,926,845 (GRCm39) E786G probably damaging Het
Nr4a2 A G 2: 57,001,877 (GRCm39) M192T probably damaging Het
Or2v2 T C 11: 49,003,879 (GRCm39) T225A probably benign Het
Or4a73 T A 2: 89,421,432 (GRCm39) E9V possibly damaging Het
Or52s1b T A 7: 102,822,766 (GRCm39) H26L probably damaging Het
Or7e169 A T 9: 19,757,912 (GRCm39) M1K probably null Het
Pcnx4 A C 12: 72,626,138 (GRCm39) N1115H probably damaging Het
Ppargc1b A G 18: 61,442,134 (GRCm39) S585P possibly damaging Het
Ppip5k2 C T 1: 97,648,853 (GRCm39) S1024N probably damaging Het
Psd3 T A 8: 68,361,513 (GRCm39) T539S probably benign Het
Rit2 A G 18: 31,449,905 (GRCm39) V31A probably damaging Het
Rps6kc1 G A 1: 190,531,663 (GRCm39) P780S probably benign Het
Serpina6 G T 12: 103,614,838 (GRCm39) T336K possibly damaging Het
Smo A T 6: 29,754,466 (GRCm39) Q232L probably benign Het
Stx2 T C 5: 129,068,155 (GRCm39) D184G probably damaging Het
Tmprss11d T C 5: 86,486,746 (GRCm39) Y48C probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging 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
R5693:Prkar1b UTSW 5 139,113,400 (GRCm39) missense possibly damaging 0.65
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'- ATGAGTACCTCCCAAACCAGG -3'
(R):5'- CCAGGCTGGATGGTTTCTT -3'

Sequencing Primer
(F):5'- TGACCTGGAAGATCTATGCACGC -3'
(R):5'- ATGGTTTCTTTGTTTCTAGCAGTAGC -3'
Posted On 2016-08-04