Incidental Mutation 'R6474:Prkacb'
ID 516724
Institutional Source Beutler Lab
Gene Symbol Prkacb
Ensembl Gene ENSMUSG00000005034
Gene Name protein kinase, cAMP dependent, catalytic, beta
Synonyms Pkacb, cAMP-dependent protein kinase C beta
MMRRC Submission 044607-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.494) question?
Stock # R6474 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 146435334-146518691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146461479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 36 (T36S)
Ref Sequence ENSEMBL: ENSMUSP00000101743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005164] [ENSMUST00000102515] [ENSMUST00000106137] [ENSMUST00000106138] [ENSMUST00000197616] [ENSMUST00000199722]
AlphaFold P68181
Predicted Effect probably benign
Transcript: ENSMUST00000005164
AA Change: T96S

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034
AA Change: T96S

DomainStartEndE-ValueType
S_TKc 91 345 1.07e-105 SMART
S_TK_X 346 398 2.47e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102515
AA Change: T49S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034
AA Change: T49S

DomainStartEndE-ValueType
S_TKc 44 298 5.3e-108 SMART
S_TK_X 299 344 2.1e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106137
AA Change: T36S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034
AA Change: T36S

DomainStartEndE-ValueType
S_TKc 31 285 1.07e-105 SMART
S_TK_X 286 338 2.47e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106138
AA Change: T37S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034
AA Change: T37S

DomainStartEndE-ValueType
S_TKc 32 286 1.07e-105 SMART
S_TK_X 287 339 2.47e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197616
AA Change: T74S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142490
Gene: ENSMUSG00000005034
AA Change: T74S

DomainStartEndE-ValueType
Pfam:Pkinase 69 189 4.6e-27 PFAM
Pfam:Pkinase_Tyr 69 189 1.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199722
SMART Domains Protein: ENSMUSP00000143303
Gene: ENSMUSG00000005034

DomainStartEndE-ValueType
STYKc 1 106 1.5e-6 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,359 (GRCm39) N90Y probably damaging Het
Alkal1 T C 1: 6,459,670 (GRCm39) V82A probably damaging Het
Ascc3 T C 10: 50,624,932 (GRCm39) S1607P probably benign Het
Ccny A T 18: 9,345,427 (GRCm39) L149H probably damaging Het
Clptm1 T C 7: 19,369,762 (GRCm39) N383D possibly damaging Het
Clrn2 T A 5: 45,621,074 (GRCm39) M156K probably benign Het
Coro2b T A 9: 62,333,910 (GRCm39) H328L probably benign Het
Echs1 A T 7: 139,688,055 (GRCm39) M250K probably benign Het
Ecsit A G 9: 21,985,981 (GRCm39) V145A possibly damaging Het
Fas G A 19: 34,293,969 (GRCm39) G108D probably damaging Het
Folh1 A G 7: 86,424,964 (GRCm39) W2R probably damaging Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Grik2 C T 10: 49,008,776 (GRCm39) M770I probably benign Het
Hcst T C 7: 30,117,250 (GRCm39) N74S probably damaging Het
Hdac9 T A 12: 34,481,990 (GRCm39) probably null Het
Hsfy2 T A 1: 56,676,150 (GRCm39) D129V probably damaging Het
Htt T C 5: 34,982,239 (GRCm39) V941A probably benign Het
Naip5 A G 13: 100,351,171 (GRCm39) V1279A possibly damaging Het
Neb T A 2: 52,170,624 (GRCm39) M1683L probably benign Het
Nudt21 C T 8: 94,746,282 (GRCm39) V139I probably benign Het
Or5e1 T C 7: 108,354,236 (GRCm39) Y58H probably damaging Het
Pex2 A G 3: 5,626,191 (GRCm39) F206S probably damaging Het
Plek2 C A 12: 78,943,065 (GRCm39) R77L probably benign Het
Ppfia1 A T 7: 144,059,942 (GRCm39) D623E possibly damaging Het
Ppm1l T A 3: 69,460,374 (GRCm39) I317N probably damaging Het
Sphkap T A 1: 83,256,544 (GRCm39) I115F probably damaging Het
Sprtn G T 8: 125,625,873 (GRCm39) E95* probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tcap C A 11: 98,275,003 (GRCm39) Q46K probably benign Het
Thada T C 17: 84,751,339 (GRCm39) I546V possibly damaging Het
Tubal3 T A 13: 3,983,107 (GRCm39) S296T probably benign Het
Ube3a A G 7: 58,936,772 (GRCm39) N683D probably damaging Het
Vmn2r82 T G 10: 79,214,871 (GRCm39) L285V possibly damaging Het
Zfp871 T C 17: 32,994,647 (GRCm39) D157G possibly damaging Het
Other mutations in Prkacb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Prkacb APN 3 146,453,797 (GRCm39) missense probably benign 0.01
IGL01330:Prkacb APN 3 146,457,266 (GRCm39) missense probably damaging 1.00
IGL01419:Prkacb APN 3 146,461,448 (GRCm39) start codon destroyed probably null 0.49
IGL02533:Prkacb APN 3 146,438,451 (GRCm39) missense possibly damaging 0.64
foxhound UTSW 3 146,451,133 (GRCm39) missense probably damaging 1.00
PIT4445001:Prkacb UTSW 3 146,461,446 (GRCm39) missense probably benign 0.13
R0666:Prkacb UTSW 3 146,457,273 (GRCm39) missense probably damaging 0.99
R2169:Prkacb UTSW 3 146,452,438 (GRCm39) splice site probably null
R4559:Prkacb UTSW 3 146,451,147 (GRCm39) unclassified probably benign
R4613:Prkacb UTSW 3 146,443,753 (GRCm39) missense probably damaging 1.00
R4931:Prkacb UTSW 3 146,453,732 (GRCm39) missense possibly damaging 0.91
R6505:Prkacb UTSW 3 146,438,401 (GRCm39) missense probably damaging 1.00
R6654:Prkacb UTSW 3 146,456,298 (GRCm39) missense possibly damaging 0.77
R6864:Prkacb UTSW 3 146,451,133 (GRCm39) missense probably damaging 1.00
R6940:Prkacb UTSW 3 146,457,254 (GRCm39) missense probably damaging 1.00
R8979:Prkacb UTSW 3 146,518,411 (GRCm39) missense probably benign 0.00
R9015:Prkacb UTSW 3 146,456,239 (GRCm39) missense probably null 0.98
R9049:Prkacb UTSW 3 146,461,518 (GRCm39) splice site probably benign
R9520:Prkacb UTSW 3 146,456,289 (GRCm39) missense probably damaging 1.00
R9716:Prkacb UTSW 3 146,463,475 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATTTGAAGGTGTCAGTGGCAG -3'
(R):5'- TAGGGGCTCACATTGGAAGTG -3'

Sequencing Primer
(F):5'- TGGCAGGCATTCTCACTGACTG -3'
(R):5'- GCTCACATTGGAAGTGAAATATGACC -3'
Posted On 2018-05-21