Incidental Mutation 'IGL01419:Prkacb'
ID 80337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkacb
Ensembl Gene ENSMUSG00000005034
Gene Name protein kinase, cAMP dependent, catalytic, beta
Synonyms Pkacb, cAMP-dependent protein kinase C beta
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.494) question?
Stock # IGL01419
Quality Score
Status
Chromosome 3
Chromosomal Location 146435334-146518691 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 146461448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000143303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005164] [ENSMUST00000102515] [ENSMUST00000106137] [ENSMUST00000106138] [ENSMUST00000197616] [ENSMUST00000199722]
AlphaFold P68181
Predicted Effect probably damaging
Transcript: ENSMUST00000005164
AA Change: M106K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034
AA Change: M106K

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: M59K

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034
AA Change: M59K

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: M46K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034
AA Change: M46K

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: M47K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034
AA Change: M47K

DomainStartEndE-ValueType
S_TKc 32 286 1.07e-105 SMART
S_TK_X 287 339 2.47e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197616
AA Change: M84K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142490
Gene: ENSMUSG00000005034
AA Change: M84K

DomainStartEndE-ValueType
Pfam:Pkinase 69 189 4.6e-27 PFAM
Pfam:Pkinase_Tyr 69 189 1.1e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000199722
AA Change: M1K

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143303
Gene: ENSMUSG00000005034
AA Change: M1K

DomainStartEndE-ValueType
STYKc 1 106 1.5e-6 SMART
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,327,526 (GRCm39) T672S probably damaging Het
Adamts14 A T 10: 61,041,321 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,705,277 (GRCm39) E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 (GRCm39) R584G probably damaging Het
Apob A T 12: 8,052,251 (GRCm39) I1218F probably damaging Het
Atp5f1a T C 18: 77,865,233 (GRCm39) S52P probably damaging Het
B4galnt3 A G 6: 120,192,351 (GRCm39) S462P possibly damaging Het
Bdkrb1 A G 12: 105,571,040 (GRCm39) H202R possibly damaging Het
Bltp1 T C 3: 37,102,270 (GRCm39) S1323P probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfhr4 T C 1: 139,667,382 (GRCm39) probably null Het
Chuk A T 19: 44,085,420 (GRCm39) I242K probably damaging Het
Csde1 A G 3: 102,946,086 (GRCm39) T27A probably damaging Het
D930048N14Rik C T 11: 51,545,603 (GRCm39) probably benign Het
Depdc7 A T 2: 104,552,455 (GRCm39) Y451N possibly damaging Het
Diaph3 C A 14: 87,202,989 (GRCm39) G623* probably null Het
Dlc1 T C 8: 37,317,371 (GRCm39) T435A probably benign Het
Dock8 A G 19: 25,096,816 (GRCm39) S575G probably benign Het
Fbxw22 T A 9: 109,210,790 (GRCm39) Y407F probably benign Het
Fzd4 C A 7: 89,056,943 (GRCm39) A330E probably damaging Het
Gm17415 A G 1: 93,349,672 (GRCm39) probably benign Het
Gnat1 C T 9: 107,556,633 (GRCm39) probably null Het
Gtf3c4 T C 2: 28,725,081 (GRCm39) Y76C probably damaging Het
Heatr5b G A 17: 79,103,939 (GRCm39) H1079Y probably benign Het
Helz T G 11: 107,577,340 (GRCm39) I1897S unknown Het
Hspa12a T C 19: 58,816,681 (GRCm39) probably null Het
Kcne1 G T 16: 92,145,534 (GRCm39) F103L probably benign Het
Lrrc20 A T 10: 61,383,874 (GRCm39) S94C probably damaging Het
Lrrc8a A G 2: 30,147,111 (GRCm39) T642A probably benign Het
Ly6g5b A G 17: 35,333,494 (GRCm39) L106P probably benign Het
Lyst A G 13: 13,810,423 (GRCm39) S698G probably benign Het
Ndrg1 A G 15: 66,802,900 (GRCm39) V334A probably benign Het
Neb A T 2: 52,116,545 (GRCm39) Y964* probably null Het
Or4c123 T C 2: 89,126,689 (GRCm39) probably benign Het
Or8k3 A T 2: 86,058,973 (GRCm39) I114N possibly damaging Het
Parp10 A G 15: 76,125,588 (GRCm39) F497L probably damaging Het
Pdss1 A G 2: 22,825,589 (GRCm39) M343V possibly damaging Het
Phactr3 C T 2: 177,920,855 (GRCm39) T231I probably benign Het
Plekhh2 A T 17: 84,890,980 (GRCm39) probably benign Het
Ppp1r12c A C 7: 4,489,351 (GRCm39) probably null Het
Prdm2 G T 4: 142,860,218 (GRCm39) P1024H probably damaging Het
Prkdc C A 16: 15,653,030 (GRCm39) P3835Q probably damaging Het
Rps27a T C 11: 29,496,353 (GRCm39) T87A probably benign Het
Ryr2 T A 13: 11,814,723 (GRCm39) E683V possibly damaging Het
Sbk2 A G 7: 4,960,528 (GRCm39) L214P probably damaging Het
Sema4g A G 19: 44,985,835 (GRCm39) S250G probably benign Het
Slc27a6 T A 18: 58,742,281 (GRCm39) D498E probably benign Het
Tarbp1 T C 8: 127,154,894 (GRCm39) D1410G probably benign Het
Tas2r134 T A 2: 51,517,759 (GRCm39) Y79* probably null Het
Tie1 T C 4: 118,333,295 (GRCm39) D857G probably damaging Het
Tnk2 A G 16: 32,499,498 (GRCm39) N432S probably damaging Het
Tubg2 C A 11: 101,049,883 (GRCm39) D176E probably benign Het
Ugt2b34 A T 5: 87,039,264 (GRCm39) W466R probably damaging Het
Usp47 T A 7: 111,687,118 (GRCm39) M692K possibly damaging Het
Vmn2r106 T C 17: 20,499,807 (GRCm39) K143E probably benign Het
Vmn2r118 G A 17: 55,900,000 (GRCm39) L635F probably benign Het
Vmn2r16 C T 5: 109,510,267 (GRCm39) probably benign Het
Vmn2r76 A T 7: 85,874,910 (GRCm39) M689K probably benign Het
Xkr6 T C 14: 64,056,325 (GRCm39) Y79H probably benign Het
Zdhhc6 A G 19: 55,298,186 (GRCm39) F224L probably benign Het
Zfp493 T G 13: 67,934,921 (GRCm39) I291M probably benign 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
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
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
Posted On 2013-11-05