Incidental Mutation 'IGL02533:Prkacb'
ID297401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkacb
Ensembl Gene ENSMUSG00000005034
Gene Nameprotein kinase, cAMP dependent, catalytic, beta
SynonymscAMP-dependent protein kinase C beta, Pkacb
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.513) question?
Stock #IGL02533
Quality Score
Status
Chromosome3
Chromosomal Location146729574-146812990 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 146732696 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 304 (I304M)
Ref Sequence ENSEMBL: ENSMUSP00000101744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005164] [ENSMUST00000102515] [ENSMUST00000106137] [ENSMUST00000106138]
Predicted Effect probably benign
Transcript: ENSMUST00000005164
AA Change: I363M

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034
AA Change: I363M

DomainStartEndE-ValueType
S_TKc 91 345 1.07e-105 SMART
S_TK_X 346 398 2.47e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102515
AA Change: I316M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034
AA Change: I316M

DomainStartEndE-ValueType
S_TKc 44 298 5.3e-108 SMART
S_TK_X 299 344 2.1e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106137
AA Change: I303M

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034
AA Change: I303M

DomainStartEndE-ValueType
S_TKc 31 285 1.07e-105 SMART
S_TK_X 286 338 2.47e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106138
AA Change: I304M

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034
AA Change: I304M

DomainStartEndE-ValueType
S_TKc 32 286 1.07e-105 SMART
S_TK_X 287 339 2.47e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144369
Coding Region Coverage
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 member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1m2 T C 9: 21,296,501 Y396C probably damaging Het
Bach2 T C 4: 32,562,451 V306A probably benign Het
BC080695 A G 4: 143,571,002 probably benign Het
Cnga4 T C 7: 105,407,961 Y424H probably damaging Het
Cops9 T C 1: 92,639,716 E79G possibly damaging Het
Crebbp T C 16: 4,107,432 N769D probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd4b A T 3: 90,272,310 H636L probably benign Het
Dpysl3 T C 18: 43,325,794 T632A probably benign Het
Gabbr1 C T 17: 37,072,147 R857C probably damaging Het
Gbp10 A T 5: 105,220,035 V424D probably damaging Het
Gnptg T C 17: 25,235,455 E146G possibly damaging Het
Has2 A T 15: 56,681,695 H170Q probably benign Het
Il22ra1 G A 4: 135,744,723 G190D possibly damaging Het
Lhcgr T C 17: 88,742,410 T563A probably benign Het
Mgat4b T A 11: 50,233,552 F413Y probably damaging Het
Mms22l T A 4: 24,581,099 probably benign Het
Muc19 C T 15: 91,898,047 noncoding transcript Het
Ncoa7 A C 10: 30,722,785 D47E probably damaging Het
Ncoa7 A T 10: 30,690,899 S545R possibly damaging Het
Nme1 A G 11: 93,959,431 Y142H possibly damaging Het
Olfr1104 T A 2: 87,022,353 S64C probably damaging Het
Olfr1404 A T 1: 173,216,061 M137L probably damaging Het
Olfr193 T A 16: 59,109,684 T309S probably benign Het
Per2 A G 1: 91,431,002 I587T possibly damaging Het
Pias3 A G 3: 96,699,616 D65G possibly damaging Het
Ripor2 G T 13: 24,701,395 E538* probably null Het
Sart1 G A 19: 5,383,721 R363* probably null Het
Serpinb3a T G 1: 107,047,162 I214L probably benign Het
Spon2 C A 5: 33,214,598 C288F probably damaging Het
Tmprss11a G A 5: 86,414,527 R320C probably damaging Het
Trpm5 T A 7: 143,089,545 I22F probably benign Het
Ube3a T C 7: 59,304,832 F818L probably damaging Het
Vmn1r120 T G 7: 21,053,138 Q216P probably damaging Het
Vmn2r4 A C 3: 64,398,419 Y527* probably null Het
Zfp618 A T 4: 63,089,405 Y125F probably damaging Het
Other mutations in Prkacb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Prkacb APN 3 146748042 missense probably benign 0.01
IGL01330:Prkacb APN 3 146751511 missense probably damaging 1.00
IGL01419:Prkacb APN 3 146755693 start codon destroyed probably null 0.49
foxhound UTSW 3 146745378 missense probably damaging 1.00
PIT4445001:Prkacb UTSW 3 146755691 missense probably benign 0.13
R0666:Prkacb UTSW 3 146751518 missense probably damaging 0.99
R2169:Prkacb UTSW 3 146746683 unclassified probably null
R4559:Prkacb UTSW 3 146745392 unclassified probably benign
R4613:Prkacb UTSW 3 146737998 missense probably damaging 1.00
R4931:Prkacb UTSW 3 146747977 missense possibly damaging 0.91
R6474:Prkacb UTSW 3 146755724 missense probably damaging 1.00
R6505:Prkacb UTSW 3 146732646 missense probably damaging 1.00
R6654:Prkacb UTSW 3 146750543 missense possibly damaging 0.77
R6864:Prkacb UTSW 3 146745378 missense probably damaging 1.00
R6940:Prkacb UTSW 3 146751499 missense probably damaging 1.00
Posted On2015-04-16