Incidental Mutation 'R4931:Prkacb'
ID 380545
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 042532-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.494) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 146435334-146518691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146453732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 211 (I211V)
Ref Sequence ENSEMBL: ENSMUSP00000005164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005164] [ENSMUST00000102515] [ENSMUST00000106137] [ENSMUST00000106138] [ENSMUST00000197616] [ENSMUST00000199722]
AlphaFold P68181
Predicted Effect possibly damaging
Transcript: ENSMUST00000005164
AA Change: I211V

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034
AA Change: I211V

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: I164V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034
AA Change: I164V

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: I151V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034
AA Change: I151V

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: I152V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034
AA Change: I152V

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
Predicted Effect probably benign
Transcript: ENSMUST00000197616
AA Change: I189V

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142490
Gene: ENSMUSG00000005034
AA Change: I189V

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
AA Change: I106V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143303
Gene: ENSMUSG00000005034
AA Change: I106V

DomainStartEndE-ValueType
STYKc 1 106 1.5e-6 SMART
Meta Mutation Damage Score 0.0793 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably 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
R6474:Prkacb UTSW 3 146,461,479 (GRCm39) missense probably damaging 1.00
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'- GCTGTCAGCTCACTTCAAGC -3'
(R):5'- TTTGAATAAGGAAACCCTCTCCCC -3'

Sequencing Primer
(F):5'- CAGCTCACTTCAAGCCTTTTAGATAG -3'
(R):5'- CAAATGCATCCACTCCGTTTG -3'
Posted On 2016-04-15