Incidental Mutation 'IGL02045:Prkcb'
ID 184922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkcb
Ensembl Gene ENSMUSG00000052889
Gene Name protein kinase C, beta
Synonyms Prkcb1, A130082F03Rik, Prkcb2, Pkcb, PKC-Beta
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02045
Quality Score
Status
Chromosome 7
Chromosomal Location 121888327-122233625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122189390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 506 (D506G)
Ref Sequence ENSEMBL: ENSMUSP00000138788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064921] [ENSMUST00000064989] [ENSMUST00000143692]
AlphaFold P68404
Predicted Effect probably damaging
Transcript: ENSMUST00000064921
AA Change: D506G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064812
Gene: ENSMUSG00000052889
AA Change: D506G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
C1 37 86 7.11e-16 SMART
C1 102 151 1.42e-15 SMART
C2 172 275 1.05e-23 SMART
S_TKc 342 600 4.36e-97 SMART
S_TK_X 601 664 9.86e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000064989
AA Change: D506G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070019
Gene: ENSMUSG00000052889
AA Change: D506G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
C1 37 86 7.11e-16 SMART
C1 102 151 1.42e-15 SMART
C2 172 275 1.05e-23 SMART
S_TKc 342 600 4.36e-97 SMART
S_TK_X 601 663 6.27e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143692
AA Change: D506G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138788
Gene: ENSMUSG00000052889
AA Change: D506G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
C1 37 86 7.11e-16 SMART
C1 102 151 1.42e-15 SMART
C2 172 275 1.05e-23 SMART
S_TKc 342 600 4.36e-97 SMART
S_TK_X 601 663 6.27e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205565
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired humoral immune responses, altered proliferative responses of B cells to various stimuli, abnormal vascular wound healing, and deficits in contextual and cued fear conditioning. ENU-induced mutations leadto impaired T cell-independent IgM responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,378,721 (GRCm39) H2044Q possibly damaging Het
Ankrd12 A T 17: 66,293,244 (GRCm39) S730T probably benign Het
Ano9 A T 7: 140,682,382 (GRCm39) N655K probably benign Het
Ap1ar A T 3: 127,609,298 (GRCm39) Y108N probably damaging Het
Asap3 A G 4: 135,954,752 (GRCm39) I55V probably benign Het
Barx2 T C 9: 31,770,094 (GRCm39) T145A probably damaging Het
Camta1 T C 4: 151,158,442 (GRCm39) probably null Het
Ces2e C T 8: 105,657,290 (GRCm39) probably benign Het
Cflar T C 1: 58,791,903 (GRCm39) I405T probably benign Het
Cibar2 T A 8: 120,896,461 (GRCm39) K174* probably null Het
Cyp51 A G 5: 4,133,247 (GRCm39) S464P probably damaging Het
Ermard G A 17: 15,271,826 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,707,841 (GRCm39) T49A probably benign Het
Gls A G 1: 52,258,674 (GRCm39) V198A probably benign Het
Heatr5b A T 17: 79,115,855 (GRCm39) I867N probably damaging Het
Ighv1-14 A T 12: 114,610,334 (GRCm39) noncoding transcript Het
Iqsec1 T C 6: 90,641,051 (GRCm39) K1022E probably damaging Het
Myo10 A G 15: 25,726,574 (GRCm39) T299A probably benign Het
Nr2e3 A T 9: 59,856,291 (GRCm39) M82K probably benign Het
Ntpcr A G 8: 126,472,191 (GRCm39) probably benign Het
Or1e26 A G 11: 73,480,058 (GRCm39) C169R probably damaging Het
Or4d10b T C 19: 12,036,253 (GRCm39) T288A possibly damaging Het
Or52s6 A G 7: 103,092,159 (GRCm39) L57P probably damaging Het
Or5p80 A G 7: 108,229,739 (GRCm39) D180G probably damaging Het
Or6c70 A T 10: 129,710,091 (GRCm39) D178E probably benign Het
Rasgef1a A G 6: 118,066,404 (GRCm39) I470V probably benign Het
Rbm27 A G 18: 42,452,978 (GRCm39) E514G possibly damaging Het
Rgs22 G A 15: 36,013,300 (GRCm39) A1048V probably benign Het
Secisbp2l A G 2: 125,617,498 (GRCm39) F60L possibly damaging Het
Six4 T C 12: 73,155,429 (GRCm39) S505G probably benign Het
Skint1 T A 4: 111,882,727 (GRCm39) V257E possibly damaging Het
Smad9 A G 3: 54,693,593 (GRCm39) N174S possibly damaging Het
Smc2 A G 4: 52,462,914 (GRCm39) N635D probably benign Het
Stradb T A 1: 59,028,937 (GRCm39) I135N probably damaging Het
Syt12 T C 19: 4,497,762 (GRCm39) T407A probably damaging Het
Tmc8 T A 11: 117,677,346 (GRCm39) I322N probably damaging Het
Tnip1 A C 11: 54,802,365 (GRCm39) *648G probably null Het
Ttc3 T C 16: 94,210,540 (GRCm39) probably benign Het
Other mutations in Prkcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
tilcara APN 7 122,194,228 (GRCm39) missense probably damaging 1.00
IGL02273:Prkcb APN 7 122,226,990 (GRCm39) missense probably damaging 1.00
IGL02638:Prkcb APN 7 122,200,063 (GRCm39) splice site probably benign
IGL02962:Prkcb APN 7 122,024,270 (GRCm39) splice site probably null
IGL03013:Prkcb APN 7 122,226,905 (GRCm39) missense probably damaging 1.00
IGL03224:Prkcb APN 7 122,116,147 (GRCm39) nonsense probably null
Almonde UTSW 7 122,181,672 (GRCm39) missense probably damaging 1.00
Baghdad UTSW 7 122,226,886 (GRCm39) missense probably benign 0.07
Mesopotamia UTSW 7 121,888,737 (GRCm39) missense probably damaging 1.00
Mosul UTSW 7 122,116,067 (GRCm39) missense probably damaging 1.00
tigris UTSW 7 122,024,200 (GRCm39) missense probably damaging 1.00
Tikrit UTSW 7 122,226,916 (GRCm39) missense probably damaging 1.00
untied UTSW 7 122,181,662 (GRCm39) missense possibly damaging 0.90
F5770:Prkcb UTSW 7 122,127,699 (GRCm39) missense probably damaging 0.99
R0078:Prkcb UTSW 7 122,189,393 (GRCm39) missense probably damaging 1.00
R0409:Prkcb UTSW 7 122,024,200 (GRCm39) missense probably damaging 1.00
R0660:Prkcb UTSW 7 122,024,182 (GRCm39) missense possibly damaging 0.56
R1462:Prkcb UTSW 7 122,181,672 (GRCm39) missense probably damaging 1.00
R1462:Prkcb UTSW 7 122,181,672 (GRCm39) missense probably damaging 1.00
R1480:Prkcb UTSW 7 122,193,865 (GRCm39) missense probably damaging 1.00
R1518:Prkcb UTSW 7 122,143,854 (GRCm39) critical splice acceptor site probably null
R1540:Prkcb UTSW 7 122,226,916 (GRCm39) missense probably damaging 1.00
R1860:Prkcb UTSW 7 122,167,424 (GRCm39) missense probably damaging 1.00
R3110:Prkcb UTSW 7 122,116,079 (GRCm39) missense probably damaging 0.99
R3112:Prkcb UTSW 7 122,116,079 (GRCm39) missense probably damaging 0.99
R4583:Prkcb UTSW 7 122,056,447 (GRCm39) missense probably benign 0.32
R4847:Prkcb UTSW 7 122,167,372 (GRCm39) missense probably benign 0.35
R5220:Prkcb UTSW 7 121,888,678 (GRCm39) missense probably damaging 1.00
R5487:Prkcb UTSW 7 122,199,948 (GRCm39) nonsense probably null
R5599:Prkcb UTSW 7 122,181,701 (GRCm39) missense probably benign 0.17
R5946:Prkcb UTSW 7 122,143,926 (GRCm39) missense probably benign
R6257:Prkcb UTSW 7 122,167,386 (GRCm39) missense probably benign
R6590:Prkcb UTSW 7 121,888,737 (GRCm39) missense probably damaging 1.00
R6618:Prkcb UTSW 7 122,226,886 (GRCm39) missense probably benign 0.07
R6690:Prkcb UTSW 7 121,888,737 (GRCm39) missense probably damaging 1.00
R6763:Prkcb UTSW 7 122,193,887 (GRCm39) missense probably damaging 1.00
R7289:Prkcb UTSW 7 122,143,910 (GRCm39) missense probably benign 0.04
R7414:Prkcb UTSW 7 122,167,450 (GRCm39) missense possibly damaging 0.83
R7466:Prkcb UTSW 7 122,116,067 (GRCm39) missense probably damaging 1.00
R7540:Prkcb UTSW 7 122,167,357 (GRCm39) missense probably damaging 0.99
R8283:Prkcb UTSW 7 122,199,948 (GRCm39) nonsense probably null
R9072:Prkcb UTSW 7 122,127,771 (GRCm39) missense probably benign 0.14
R9483:Prkcb UTSW 7 122,181,663 (GRCm39) missense probably damaging 0.99
R9670:Prkcb UTSW 7 122,233,070 (GRCm39) nonsense probably null
V7581:Prkcb UTSW 7 122,127,699 (GRCm39) missense probably damaging 0.99
X0061:Prkcb UTSW 7 122,056,529 (GRCm39) missense probably benign 0.03
Z1177:Prkcb UTSW 7 122,167,419 (GRCm39) missense possibly damaging 0.90
Posted On 2014-05-07