Incidental Mutation 'R8750:Prkar1b'
ID 663761
Institutional Source Beutler Lab
Gene Symbol Prkar1b
Ensembl Gene ENSMUSG00000025855
Gene Name protein kinase, cAMP dependent regulatory, type I beta
Synonyms RIbeta
MMRRC Submission 068593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R8750 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 139003061-139135756 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139036451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 224 (W224R)
Ref Sequence ENSEMBL: ENSMUSP00000026973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026973] [ENSMUST00000110889] [ENSMUST00000110890] [ENSMUST00000129851] [ENSMUST00000148002]
AlphaFold P12849
Predicted Effect probably damaging
Transcript: ENSMUST00000026973
AA Change: W224R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026973
Gene: ENSMUSG00000025855
AA Change: W224R

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: W100R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106514
Gene: ENSMUSG00000025855
AA Change: W100R

DomainStartEndE-ValueType
cNMP 13 129 1.07e-28 SMART
cNMP 131 250 3.95e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110890
AA Change: W224R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106515
Gene: ENSMUSG00000025855
AA Change: W224R

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: W224R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121093
Gene: ENSMUSG00000025855
AA Change: W224R

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
cNMP 137 235 1.24e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148002
AA Change: W224R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123286
Gene: ENSMUSG00000025855
AA Change: W224R

DomainStartEndE-ValueType
RIIa 25 62 3.14e-12 SMART
cNMP 137 250 8.27e-26 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,247 (GRCm39) Q172* probably null Het
Ankib1 A G 5: 3,752,890 (GRCm39) probably null Het
Avpr1b C T 1: 131,527,674 (GRCm39) R66C probably damaging Het
Bbs7 A T 3: 36,661,744 (GRCm39) C152S possibly damaging Het
Cacna1a C A 8: 85,285,784 (GRCm39) R810S probably damaging Het
Ccdc17 G A 4: 116,457,129 (GRCm39) A538T possibly damaging Het
Cd93 T C 2: 148,285,080 (GRCm39) M89V probably benign Het
Clec11a G T 7: 43,955,323 (GRCm39) D157E probably benign Het
Crtam A C 9: 40,895,641 (GRCm39) D228E probably benign Het
Cyp2a4 A G 7: 26,012,209 (GRCm39) I331V probably benign Het
Cysltr2 T C 14: 73,267,078 (GRCm39) I211V probably benign Het
Dcaf13 T C 15: 38,982,836 (GRCm39) S123P probably damaging Het
Dctn1 T G 6: 83,160,108 (GRCm39) V116G possibly damaging Het
Dmrt3 G A 19: 25,588,550 (GRCm39) A130T probably benign Het
Dnah1 A T 14: 31,026,924 (GRCm39) L700Q probably benign Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dpyd C T 3: 118,935,585 (GRCm39) S670L probably damaging Het
Dsg2 A T 18: 20,708,069 (GRCm39) I57F possibly damaging Het
Dzip3 A C 16: 48,801,338 (GRCm39) I62S probably damaging Het
Ern1 A T 11: 106,312,776 (GRCm39) S202T probably damaging Het
Foxm1 T A 6: 128,350,206 (GRCm39) C517* probably null Het
Galnt16 G A 12: 80,644,879 (GRCm39) V501I probably benign Het
Gmip A T 8: 70,273,134 (GRCm39) R840S probably benign Het
Gna14 A C 19: 16,585,458 (GRCm39) I279L Het
Irak2 T C 6: 113,663,783 (GRCm39) M444T probably benign Het
Itfg2 T C 6: 128,389,755 (GRCm39) probably null Het
Kif5a T A 10: 127,083,909 (GRCm39) H94L probably damaging Het
Kmt2e A G 5: 23,698,215 (GRCm39) T636A probably benign Het
Krba1 T C 6: 48,382,212 (GRCm39) S152P probably damaging Het
Mad1l1 T A 5: 140,300,822 (GRCm39) M25L probably benign Het
Map7d1 T C 4: 126,132,315 (GRCm39) N286D probably benign Het
Mfrp A G 9: 44,014,802 (GRCm39) K280E probably benign Het
Mlh3 G T 12: 85,308,488 (GRCm39) L1100I probably damaging Het
Mrgprx2 T C 7: 48,131,778 (GRCm39) I347V probably benign Het
Mtnr1b A T 9: 15,785,724 (GRCm39) C11* probably null Het
Mx1 T C 16: 97,252,917 (GRCm39) E401G probably damaging Het
Mypn T C 10: 63,003,036 (GRCm39) D367G probably benign Het
Nherf2 T C 17: 24,861,233 (GRCm39) I176V probably damaging Het
Or52a33 T A 7: 103,289,059 (GRCm39) D96V probably damaging Het
Or6c5b T C 10: 129,245,649 (GRCm39) V138A probably benign Het
Or8s8 T G 15: 98,354,929 (GRCm39) I246R probably damaging Het
Or9g19 T A 2: 85,600,307 (GRCm39) L54H probably damaging Het
Plcb1 T G 2: 135,177,369 (GRCm39) M567R probably damaging Het
Plekhd1 A T 12: 80,752,861 (GRCm39) D109V probably damaging Het
Polr2e A G 10: 79,875,424 (GRCm39) I17T probably benign Het
Pot1b T C 17: 55,973,537 (GRCm39) D421G probably benign Het
Psmd1 C A 1: 86,016,585 (GRCm39) R490S probably damaging Het
Pwp2 A G 10: 78,013,659 (GRCm39) W521R probably damaging Het
Rhpn2 C A 7: 35,075,680 (GRCm39) Q286K probably benign Het
Rnf103 T A 6: 71,486,602 (GRCm39) M411K probably benign Het
Scpep1 A C 11: 88,835,298 (GRCm39) V125G probably damaging Het
Serpinb9c C T 13: 33,335,793 (GRCm39) V248M probably null Het
Snx15 T A 19: 6,170,593 (GRCm39) N282I probably benign Het
Spaca3 A T 11: 80,758,514 (GRCm39) D159V probably benign Het
Srrm4 A G 5: 116,605,567 (GRCm39) V230A unknown Het
Ssu2 T A 6: 112,359,312 (GRCm39) I103F possibly damaging Het
Strip2 T A 6: 29,931,815 (GRCm39) F453I probably damaging Het
Tac2 C T 10: 127,564,319 (GRCm39) P72L possibly damaging Het
Tiparp T G 3: 65,460,125 (GRCm39) S473R probably damaging Het
Tmem135 C T 7: 88,956,456 (GRCm39) R53Q probably damaging Het
Tmem200b T A 4: 131,649,406 (GRCm39) F109I probably damaging Het
Tmem245 A T 4: 56,886,141 (GRCm39) I825N probably damaging Het
Tmem63c G T 12: 87,103,306 (GRCm39) V27F probably damaging Het
Tshz1 T C 18: 84,033,162 (GRCm39) I415M probably damaging Het
Tut4 C G 4: 108,407,940 (GRCm39) A1403G probably damaging Het
Wfdc2 T A 2: 164,407,818 (GRCm39) N162K probably damaging Het
Zeb2 T A 2: 44,887,939 (GRCm39) I373F probably damaging Het
Zfp27 T C 7: 29,594,804 (GRCm39) N387S possibly damaging Het
Zfp760 A T 17: 21,941,356 (GRCm39) H177L possibly damaging Het
Zg16 A G 7: 126,649,518 (GRCm39) S148P possibly damaging Het
Zic2 A G 14: 122,714,129 (GRCm39) N348D probably benign Het
Zswim4 A T 8: 84,939,313 (GRCm39) D856E possibly 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
R5350:Prkar1b UTSW 5 139,092,383 (GRCm39) missense probably damaging 1.00
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
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'- GAGACGTTCCCAGTCATCTTC -3'
(R):5'- GCTATTGTGAGCCACGTGTC -3'

Sequencing Primer
(F):5'- CTGTTTTGAGAAGCTTCCAAAACCC -3'
(R):5'- AGCCACGTGTCGCACTG -3'
Posted On 2021-03-08