Mutagenetix > Incidental Mutation

Incidental Mutation 'R0078:Prkcb'

19548

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

038365-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121888327-122233625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122189393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 507 (Y507C)

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: Y507C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064812
Gene: ENSMUSG00000052889
AA Change: Y507C

Domain	Start	End	E-Value	Type
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: Y507C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070019
Gene: ENSMUSG00000052889
AA Change: Y507C

Domain	Start	End	E-Value	Type
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: Y507C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138788
Gene: ENSMUSG00000052889
AA Change: Y507C

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.9744

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.2%

Validation Efficiency

81% (203/250)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,891,129 (GRCm39)	Q456L	probably benign	Het
Abcf1	A	G	17: 36,268,954 (GRCm39)		probably benign	Het
Adamts7	A	T	9: 90,061,464 (GRCm39)	S357C	probably damaging	Het
Ankrd26	A	G	6: 118,512,030 (GRCm39)		probably benign	Het
Asb17	T	A	3: 153,550,301 (GRCm39)	V111E	probably damaging	Het
C1qtnf4	C	A	2: 90,719,893 (GRCm39)	N55K	probably damaging	Het
Cacng5	G	T	11: 107,768,259 (GRCm39)	D249E	probably benign	Het
Camkk2	C	A	5: 122,895,622 (GRCm39)		probably null	Het
Ccdc27	T	G	4: 154,120,195 (GRCm39)		probably benign	Het
Cfap251	G	A	5: 123,436,633 (GRCm39)	R1054H	probably benign	Het
Cngb1	T	A	8: 95,991,173 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,803,981 (GRCm39)		probably benign	Het
Corin	T	A	5: 72,611,816 (GRCm39)	D148V	possibly damaging	Het
Cstdc1	T	A	2: 148,627,745 (GRCm39)	*131K	probably null	Het
Defb26	A	C	2: 152,349,988 (GRCm39)	D97E	possibly damaging	Het
Dgkb	A	G	12: 38,186,540 (GRCm39)	N237D	probably benign	Het
Dsp	A	G	13: 38,379,993 (GRCm39)	N1647S	probably benign	Het
Dtna	G	A	18: 23,754,499 (GRCm39)	A438T	probably damaging	Het
Erbb3	G	T	10: 128,419,310 (GRCm39)	F219L	probably damaging	Het
EU599041	G	A	7: 42,875,275 (GRCm39)		noncoding transcript	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Fat4	T	C	3: 38,943,080 (GRCm39)	S658P	probably benign	Het
Fgfr2	C	T	7: 129,802,805 (GRCm39)	D168N	possibly damaging	Het
Fstl5	T	A	3: 76,566,952 (GRCm39)		probably benign	Het
Glmn	C	T	5: 107,705,836 (GRCm39)	V451I	probably benign	Het
Gm9938	T	A	19: 23,701,988 (GRCm39)		probably benign	Het
Gpat2	T	C	2: 127,270,169 (GRCm39)	S61P	probably damaging	Het
Gpr22	T	A	12: 31,761,640 (GRCm39)	M6L	probably benign	Het
Grm5	T	C	7: 87,724,185 (GRCm39)	L825P	probably damaging	Het
Gstz1	A	T	12: 87,206,477 (GRCm39)	I66F	probably benign	Het
H2-T22	A	G	17: 36,351,501 (GRCm39)	V243A	probably damaging	Het
H2-T5	A	T	17: 36,476,353 (GRCm39)	S304T	possibly damaging	Het
Hivep1	C	T	13: 42,309,517 (GRCm39)	L586F	probably damaging	Het
Hmcn2	T	G	2: 31,278,356 (GRCm39)	L1686R	probably damaging	Het
Ice1	T	C	13: 70,751,467 (GRCm39)	R1540G	probably damaging	Het
Igha	T	A	12: 113,223,547 (GRCm39)		probably benign	Het
Kif3a	C	A	11: 53,469,812 (GRCm39)	T141K	probably benign	Het
Knl1	G	A	2: 118,900,373 (GRCm39)	M691I	probably benign	Het
L3mbtl1	T	C	2: 162,789,146 (GRCm39)	V13A	probably benign	Het
Lamc1	T	A	1: 153,104,936 (GRCm39)	N1282I	probably damaging	Het
Lemd2	G	T	17: 27,422,702 (GRCm39)	L231I	probably benign	Het
Lrrk2	G	A	15: 91,618,212 (GRCm39)	V904M	probably benign	Het
Lyzl6	C	T	11: 103,524,795 (GRCm39)	S103N	probably benign	Het
Macf1	T	A	4: 123,367,661 (GRCm39)	R2367W	probably damaging	Het
Mapk3	T	C	7: 126,358,977 (GRCm39)	Y54H	probably damaging	Het
Mlh3	A	T	12: 85,315,592 (GRCm39)	V198D	probably damaging	Het
Myocd	T	C	11: 65,078,290 (GRCm39)	S374G	possibly damaging	Het
Ngef	T	C	1: 87,468,387 (GRCm39)	E124G	probably benign	Het
Nhsl3	T	C	4: 129,121,516 (GRCm39)		probably null	Het
Nr4a2	T	C	2: 57,002,240 (GRCm39)	Y8C	probably damaging	Het
Nynrin	T	A	14: 56,100,789 (GRCm39)	V193D	probably damaging	Het
Or10ak9	T	A	4: 118,726,424 (GRCm39)	S148T	probably benign	Het
Or10w1	G	T	19: 13,632,179 (GRCm39)	V129F	probably benign	Het
Or1p1	A	T	11: 74,180,092 (GRCm39)	I207F	probably damaging	Het
Or4k36	A	T	2: 111,146,249 (GRCm39)	I142F	probably benign	Het
Or6d15	A	G	6: 116,559,701 (GRCm39)	S69P	probably damaging	Het
Pcdh18	T	C	3: 49,710,793 (GRCm39)	Y174C	probably damaging	Het
Pcf11	T	C	7: 92,318,767 (GRCm39)	D21G	possibly damaging	Het
Pdia4	A	C	6: 47,775,344 (GRCm39)	F489V	possibly damaging	Het
Pitrm1	C	T	13: 6,625,068 (GRCm39)	P849S	probably damaging	Het
Plcz1	T	C	6: 139,935,510 (GRCm39)	Y644C	probably damaging	Het
Ppp5c	T	C	7: 16,761,650 (GRCm39)	E28G	probably benign	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Scarf1	A	G	11: 75,405,988 (GRCm39)		probably benign	Het
Scoc	T	A	8: 84,184,887 (GRCm39)		probably null	Het
Sh2d4a	A	T	8: 68,734,973 (GRCm39)	M31L	probably damaging	Het
Spta1	T	A	1: 174,034,598 (GRCm39)		probably benign	Het
Stard7	A	G	2: 127,134,127 (GRCm39)	Y270C	probably damaging	Het
Svs3b	T	C	2: 164,097,881 (GRCm39)	T147A	probably benign	Het
Tmtc3	A	G	10: 100,284,823 (GRCm39)	L604P	probably damaging	Het
Trim30b	A	T	7: 104,015,102 (GRCm39)	N95K	probably benign	Het
Trpm8	C	A	1: 88,255,870 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 127,943,448 (GRCm39)		probably null	Het
Tubgcp5	C	T	7: 55,468,643 (GRCm39)	R713C	probably damaging	Het
Tyro3	A	T	2: 119,647,487 (GRCm39)	Q872L	probably damaging	Het
Vmn1r204	G	A	13: 22,740,379 (GRCm39)	M3I	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdfy3	A	G	5: 102,035,971 (GRCm39)	I2149T	possibly damaging	Het
Zfp668	A	T	7: 127,467,210 (GRCm39)	M122K	possibly damaging	Het
Zkscan1	A	T	5: 138,091,363 (GRCm39)	D32V	probably damaging	Het

Other mutations in Prkcb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TACCTTTGTGCCTGCGAAGCTC -3'
(R):5'- GCCATAGCAGCTTGGTGATGGATG -3'

Sequencing Primer
(F):5'- ATGTCCATATCAAGTGACTGTTGG -3'
(R):5'- GCCTTCTAGATGTGCTAAGCTAATC -3'

Posted On

2013-04-11