Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Prkcb'

167191

Institutional Source

Beutler Lab

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 #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121888327-122233625 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 122143854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064921] [ENSMUST00000064989] [ENSMUST00000143692]

AlphaFold

P68404

Predicted Effect

probably null
Transcript: ENSMUST00000064921

SMART Domains

Protein: ENSMUSP00000064812
Gene: ENSMUSG00000052889

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 null
Transcript: ENSMUST00000064989

SMART Domains

Protein: ENSMUSP00000070019
Gene: ENSMUSG00000052889

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 benign
Transcript: ENSMUST00000143692

SMART Domains

Protein: ENSMUSP00000138788
Gene: ENSMUSG00000052889

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,666 (GRCm39)	M493L	probably benign	Het
Abtb2	G	A	2: 103,539,629 (GRCm39)	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,260,840 (GRCm39)	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,821,469 (GRCm39)	T623A	possibly damaging	Het
Alox5	A	G	6: 116,390,741 (GRCm39)	F470S	probably damaging	Het
Angpt2	T	C	8: 18,755,855 (GRCm39)	E204G	probably benign	Het
Apip	A	G	2: 102,919,838 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,039,207 (GRCm39)	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 72,588,729 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,340 (GRCm39)	D56E	probably benign	Het
Cacna1s	C	T	1: 136,026,289 (GRCm39)	A1092V	probably damaging	Het
Calr3	A	G	8: 73,181,044 (GRCm39)	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,816,877 (GRCm39)	D55V	probably benign	Het
Chid1	A	C	7: 141,108,384 (GRCm39)	V145G	probably damaging	Het
Chst15	T	C	7: 131,871,855 (GRCm39)	N142S	probably damaging	Het
Cnot4	C	T	6: 35,028,389 (GRCm39)	R409Q	probably damaging	Het
Cope	T	G	8: 70,765,411 (GRCm39)	I287S	possibly damaging	Het
Cpd	A	T	11: 76,731,212 (GRCm39)		probably null	Het
Cux1	G	T	5: 136,337,133 (GRCm39)	T785K	probably benign	Het
Dennd2b	A	G	7: 109,156,562 (GRCm39)	S63P	probably damaging	Het
Dthd1	T	C	5: 62,979,383 (GRCm39)	S348P	probably damaging	Het
Eno3	G	T	11: 70,551,903 (GRCm39)	E64*	probably null	Het
Entpd1	T	A	19: 40,713,507 (GRCm39)	Y184*	probably null	Het
Erv3	A	T	2: 131,698,083 (GRCm39)	M92K	probably benign	Het
Flg2	T	A	3: 93,110,445 (GRCm39)	H824Q	unknown	Het
Fndc9	G	A	11: 46,128,930 (GRCm39)	G150S	probably benign	Het
Gdap1	G	A	1: 17,217,169 (GRCm39)	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,417,229 (GRCm39)	L394F	probably damaging	Het
Ift88	A	G	14: 57,668,085 (GRCm39)	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,252,063 (GRCm39)	I437L	probably benign	Het
Kras	T	A	6: 145,177,977 (GRCm39)	E98D	probably benign	Het
Lcorl	C	A	5: 45,891,543 (GRCm39)	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,921 (GRCm39)	I516V	probably benign	Het
Lrrc51	T	C	7: 101,564,803 (GRCm39)	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,837,504 (GRCm39)	A159T	probably damaging	Het
Magel2	G	A	7: 62,030,188 (GRCm39)	V1031I	unknown	Het
Man1c1	A	T	4: 134,308,100 (GRCm39)	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977 (GRCm39)	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,788,893 (GRCm39)	A135S	possibly damaging	Het
Muc4	T	C	16: 32,569,167 (GRCm39)	S76P	possibly damaging	Het
Nin	T	G	12: 70,061,547 (GRCm39)	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,021,268 (GRCm39)	I585T	probably benign	Het
Npy1r	C	T	8: 67,156,847 (GRCm39)	A89V	probably benign	Het
Or11g27	T	C	14: 50,771,622 (GRCm39)	V251A	probably damaging	Het
Or4c115	G	A	2: 88,927,944 (GRCm39)	A109V	probably benign	Het
Or52ae7	T	A	7: 103,119,249 (GRCm39)	M1K	probably null	Het
Or52n3	T	A	7: 104,530,515 (GRCm39)	Y200*	probably null	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Parp14	T	G	16: 35,677,008 (GRCm39)	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,423,867 (GRCm39)	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,656,107 (GRCm39)	Y104*	probably null	Het
Pgm2l1	A	G	7: 99,910,932 (GRCm39)	K292R	probably benign	Het
Plec	T	C	15: 76,072,401 (GRCm39)	E728G	probably damaging	Het
Plppr4	T	C	3: 117,129,152 (GRCm39)	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,558,821 (GRCm39)	N23K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prkca	T	C	11: 107,869,142 (GRCm39)	D57G	probably damaging	Het
Prl6a1	A	T	13: 27,502,911 (GRCm39)	Q169L	probably null	Het
Prl6a1	C	A	13: 27,502,910 (GRCm39)	Q169K	possibly damaging	Het
Psmd14	G	A	2: 61,591,335 (GRCm39)	R46H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,138,408 (GRCm39)	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rbm25	A	T	12: 83,715,219 (GRCm39)	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,637,678 (GRCm39)	I35V	probably benign	Het
Sestd1	A	G	2: 77,071,976 (GRCm39)	Y49H	probably damaging	Het
Setd2	T	A	9: 110,431,306 (GRCm39)	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,819,740 (GRCm39)	C486*	probably null	Het
Spef2	T	A	15: 9,667,316 (GRCm39)	I791F	probably damaging	Het
Sptb	T	C	12: 76,650,798 (GRCm39)	T1726A	possibly damaging	Het
Stk38l	T	A	6: 146,673,129 (GRCm39)	M296K	probably benign	Het
Taf5	T	C	19: 47,070,285 (GRCm39)	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,086,855 (GRCm39)	T316K	probably damaging	Het
Trpm2	A	G	10: 77,778,839 (GRCm39)	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,702 (GRCm39)	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,398,087 (GRCm39)	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,881,269 (GRCm39)	H399R	probably damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	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
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
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'- TGCGAAGCCTTGTAGGAAAGAAACC -3'
(R):5'- ACTGTACCTTGCCAAAGCTGCC -3'

Sequencing Primer
(F):5'- CTCCTGGACAAGAATGTGATTTGAG -3'
(R):5'- AAAGCTGCCTTTCCCCAG -3'

Posted On

2014-04-13