Incidental Mutation 'R1860:Prkcb'
ID 203798
Institutional Source Beutler Lab
Gene Symbol Prkcb
Ensembl Gene ENSMUSG00000052889
Gene Name protein kinase C, beta
Synonyms Prkcb1, A130082F03Rik, Prkcb2, Pkcb, PKC-Beta
MMRRC Submission 039883-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1860 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 121888327-122233625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 122167424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 378 (V378G)
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: V378G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064812
Gene: ENSMUSG00000052889
AA Change: V378G

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: V378G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070019
Gene: ENSMUSG00000052889
AA Change: V378G

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: V378G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138788
Gene: ENSMUSG00000052889
AA Change: V378G

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,098 (GRCm39) C587R probably damaging Het
Abca16 T A 7: 120,133,986 (GRCm39) S1320T probably benign Het
Abra C A 15: 41,732,430 (GRCm39) R212L probably damaging Het
Acadsb T A 7: 131,045,958 (GRCm39) probably null Het
Adam26a A G 8: 44,022,578 (GRCm39) V304A possibly damaging Het
Adgre1 T C 17: 57,748,363 (GRCm39) V521A probably benign Het
Adh5 G A 3: 138,159,539 (GRCm39) V288I probably benign Het
Astn1 A C 1: 158,429,515 (GRCm39) N753T probably damaging Het
Atad2 A T 15: 57,960,114 (GRCm39) probably null Het
Best3 A G 10: 116,829,178 (GRCm39) T153A probably damaging Het
Ccdc122 G A 14: 77,348,847 (GRCm39) V226I probably damaging Het
Ccdc175 T C 12: 72,152,700 (GRCm39) Q735R probably benign Het
Cd19 T A 7: 126,008,813 (GRCm39) I499F probably damaging Het
Cftr T A 6: 18,268,288 (GRCm39) L749H probably benign Het
Clec2h G T 6: 128,652,790 (GRCm39) G186W probably damaging Het
Cpsf3 T A 12: 21,346,733 (GRCm39) I202N probably damaging Het
Crebbp G T 16: 3,905,600 (GRCm39) T1669N possibly damaging Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Cul4a G A 8: 13,173,565 (GRCm39) R204Q probably damaging Het
Derl2 A G 11: 70,909,169 (GRCm39) F43S probably damaging Het
Dnah14 T A 1: 181,591,525 (GRCm39) N3348K probably damaging Het
Dnhd1 T C 7: 105,353,412 (GRCm39) V2855A probably benign Het
Dpysl4 G T 7: 138,670,215 (GRCm39) C27F probably benign Het
Fam228b G A 12: 4,798,314 (GRCm39) A163V probably damaging Het
Fscn1 T C 5: 142,955,818 (GRCm39) probably null Het
Fzd5 C A 1: 64,774,153 (GRCm39) R536L probably damaging Het
Gm8180 T A 14: 44,021,196 (GRCm39) H4L probably benign Het
Gpr176 T A 2: 118,203,659 (GRCm39) N4Y probably damaging Het
Grin3a T C 4: 49,665,309 (GRCm39) I1109V possibly damaging Het
Hcar1 T A 5: 124,017,092 (GRCm39) I200F probably damaging Het
Heatr4 G A 12: 84,026,502 (GRCm39) Q252* probably null Het
Hps1 G A 19: 42,750,888 (GRCm39) H371Y probably damaging Het
Ikzf2 T C 1: 69,609,661 (GRCm39) T195A probably damaging Het
Kdm1b G A 13: 47,202,666 (GRCm39) A34T probably benign Het
Lef1 A G 3: 130,905,290 (GRCm39) N57S probably damaging Het
Ltn1 A T 16: 87,213,231 (GRCm39) D443E probably benign Het
Macroh2a1 A G 13: 56,231,017 (GRCm39) L287P probably damaging Het
Mamdc2 T C 19: 23,336,517 (GRCm39) T331A probably damaging Het
Marchf10 A T 11: 105,287,904 (GRCm39) S133T probably damaging Het
Mb A G 15: 76,901,784 (GRCm39) Y104H probably damaging Het
Mrc1 C A 2: 14,333,390 (GRCm39) P1357Q probably benign Het
Nfib C T 4: 82,241,917 (GRCm39) V425M probably damaging Het
Or12j2 G A 7: 139,916,132 (GRCm39) R119H possibly damaging Het
Or4a27 T G 2: 88,559,674 (GRCm39) I90L probably damaging Het
Or4b1b C A 2: 90,112,502 (GRCm39) C139F probably damaging Het
Or4c127 G A 2: 89,833,490 (GRCm39) V247I probably benign Het
Or4n4 A T 14: 50,518,848 (GRCm39) Y287* probably null Het
Or52u1 T C 7: 104,237,112 (GRCm39) S34P probably damaging Het
Or5b113 T A 19: 13,342,705 (GRCm39) S238T possibly damaging Het
Or5p53 A G 7: 107,533,597 (GRCm39) Y290C probably damaging Het
Or6c208 T C 10: 129,223,955 (GRCm39) F151S probably damaging Het
Or8b51 A T 9: 38,569,661 (GRCm39) V9E probably damaging Het
Phaf1 A G 8: 105,966,703 (GRCm39) E150G probably null Het
Piezo1 T C 8: 123,222,489 (GRCm39) N919S possibly damaging Het
Prkaca T C 8: 84,707,852 (GRCm39) S46P probably benign Het
Ptprf A T 4: 118,081,129 (GRCm39) L576Q probably damaging Het
Rapgef4 T C 2: 72,065,064 (GRCm39) V687A probably benign Het
Rsad2 C T 12: 26,500,616 (GRCm39) V224I probably damaging Het
Ryr1 A T 7: 28,708,977 (GRCm39) D4796E unknown Het
Scn1a C T 2: 66,148,326 (GRCm39) S1073N probably damaging Het
Slc26a3 A G 12: 31,515,845 (GRCm39) M582V probably benign Het
Tbc1d32 A T 10: 55,999,633 (GRCm39) Y846* probably null Het
Tbk1 A T 10: 121,383,076 (GRCm39) M719K probably benign Het
Timeless A G 10: 128,081,983 (GRCm39) K536R probably benign Het
Tle6 G T 10: 81,430,163 (GRCm39) Q330K probably damaging Het
Tmem208 A G 8: 106,061,438 (GRCm39) K155E possibly damaging Het
Toe1 T C 4: 116,662,426 (GRCm39) Y273C probably damaging Het
Tppp2 A C 14: 52,158,062 (GRCm39) N169T probably benign Het
Ttll6 T A 11: 96,029,700 (GRCm39) Y204* probably null Het
Ubxn11 G A 4: 133,852,149 (GRCm39) S32N probably damaging Het
Usp8 G A 2: 126,597,960 (GRCm39) C961Y probably damaging Het
Vdac3 A T 8: 23,070,515 (GRCm39) I132K possibly damaging Het
Vmn2r124 G T 17: 18,269,759 (GRCm39) W5L probably benign Het
Vmn2r71 A T 7: 85,264,782 (GRCm39) D38V probably damaging Het
Vmn2r87 C T 10: 130,315,755 (GRCm39) V104I probably benign Het
Vmn2r97 C T 17: 19,167,648 (GRCm39) T634I probably benign Het
Vps50 T C 6: 3,520,279 (GRCm39) probably null Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Ythdc2 T A 18: 45,006,023 (GRCm39) I1172K possibly damaging Het
Zfp14 C T 7: 29,738,116 (GRCm39) V290M probably damaging Het
Zfp317 G A 9: 19,553,280 (GRCm39) A18T possibly damaging Het
Zfp354b A T 11: 50,814,369 (GRCm39) N185K probably benign Het
Zscan21 T A 5: 138,124,892 (GRCm39) D269E probably benign Het
Other mutations in Prkcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
tilcara APN 7 122,194,228 (GRCm39) missense probably damaging 1.00
IGL02045:Prkcb APN 7 122,189,390 (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
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
Predicted Primers PCR Primer
(F):5'- GTCTATCCAAAGCTGGGAGTG -3'
(R):5'- TGTGAGCCCAGCATCCTTTAG -3'

Sequencing Primer
(F):5'- GGTTTGCATGGACTCCAGGTAC -3'
(R):5'- CCTCAGGATGGCAACTGTTACTG -3'
Posted On 2014-06-23