Mutagenetix > Incidental Mutation

Incidental Mutation 'R1480:Prkcb'

164298

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

039533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1480 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121888327-122233625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122193865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 525 (W525R)

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: W525R

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

SMART Domains

Protein: ENSMUSP00000064812
Gene: ENSMUSG00000052889
AA Change: W525R

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: W525R

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

SMART Domains

Protein: ENSMUSP00000070019
Gene: ENSMUSG00000052889
AA Change: W525R

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: W525R

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

SMART Domains

Protein: ENSMUSP00000138788
Gene: ENSMUSG00000052889
AA Change: W525R

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.6%

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
Abca2	C	T	2: 25,323,409 (GRCm39)	R126C	possibly damaging	Het
Abcb9	C	A	5: 124,216,889 (GRCm39)	A443S	probably benign	Het
Adcy3	A	G	12: 4,262,171 (GRCm39)	M1074V	probably damaging	Het
Adnp	A	G	2: 168,025,454 (GRCm39)	Y614H	probably damaging	Het
Agbl4	G	A	4: 111,423,914 (GRCm39)	M313I	possibly damaging	Het
AI987944	T	C	7: 41,024,343 (GRCm39)	D212G	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aplp1	A	G	7: 30,135,448 (GRCm39)	S537P	probably benign	Het
Arap2	T	A	5: 62,826,472 (GRCm39)	R1031*	probably null	Het
Arid1a	A	G	4: 133,407,700 (GRCm39)	M2269T	unknown	Het
Ash1l	C	A	3: 88,892,359 (GRCm39)	P1413T	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt5	A	T	16: 19,588,617 (GRCm39)	I279L	probably damaging	Het
Camkk2	T	C	5: 122,872,341 (GRCm39)		probably null	Het
Ccdc158	T	C	5: 92,796,903 (GRCm39)	K478E	probably damaging	Het
Ces1f	T	C	8: 94,000,782 (GRCm39)	I121V	probably benign	Het
Chad	A	T	11: 94,455,963 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,545,752 (GRCm39)	I907V	unknown	Het
Cpe	T	A	8: 65,047,969 (GRCm39)	T432S	probably benign	Het
Csmd3	T	C	15: 47,595,325 (GRCm39)	T1941A	possibly damaging	Het
Dennd3	G	A	15: 73,404,695 (GRCm39)	V257I	probably benign	Het
Dnajc21	T	C	15: 10,460,037 (GRCm39)		probably null	Het
Dqx1	A	G	6: 83,036,433 (GRCm39)	R146G	possibly damaging	Het
Etf1	T	C	18: 35,042,276 (GRCm39)	E261G	probably damaging	Het
Fermt2	C	T	14: 45,699,244 (GRCm39)	V617I	possibly damaging	Het
Gabarap	T	C	11: 69,882,551 (GRCm39)	Y5H	probably damaging	Het
Gdap1	A	G	1: 17,215,781 (GRCm39)	Y29C	probably damaging	Het
Gimap5	A	G	6: 48,729,964 (GRCm39)	E178G	probably damaging	Het
Gpatch1	C	T	7: 35,002,763 (GRCm39)	G249E	probably damaging	Het
Gse1	T	G	8: 121,299,133 (GRCm39)		probably benign	Het
Kifc3	T	C	8: 95,836,515 (GRCm39)	D82G	probably damaging	Het
Kit	G	A	5: 75,797,977 (GRCm39)	D422N	probably benign	Het
Klhl28	A	T	12: 65,003,995 (GRCm39)	F173I	probably damaging	Het
Klk1b22	A	G	7: 43,766,278 (GRCm39)	D253G	possibly damaging	Het
Lias	T	A	5: 65,549,634 (GRCm39)	H39Q	probably benign	Het
Lrp1b	T	A	2: 40,793,401 (GRCm39)	D2504V	probably damaging	Het
Mgat5	A	T	1: 127,387,716 (GRCm39)	R557S	probably damaging	Het
Mrpl54	T	C	10: 81,101,489 (GRCm39)	T91A	probably benign	Het
Myh3	T	A	11: 66,984,371 (GRCm39)	D1069E	possibly damaging	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nfyc	A	C	4: 120,625,921 (GRCm39)		probably null	Het
Nol7	A	T	13: 43,552,104 (GRCm39)	E75V	probably damaging	Het
Nomo1	T	A	7: 45,710,337 (GRCm39)	V606E	probably damaging	Het
Npat	TGGTAAAA	T	9: 53,474,366 (GRCm39)		probably null	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Ogdh	A	T	11: 6,297,827 (GRCm39)		probably null	Het
Or1o4	A	G	17: 37,590,636 (GRCm39)	V225A	probably benign	Het
Parg	A	T	14: 31,931,585 (GRCm39)	K402*	probably null	Het
Patj	G	A	4: 98,357,819 (GRCm39)	G695E	probably damaging	Het
Pde3a	G	A	6: 141,433,300 (GRCm39)	S777N	probably benign	Het
Phactr2	G	A	10: 13,129,536 (GRCm39)	P174L	possibly damaging	Het
Phtf1	C	T	3: 103,894,750 (GRCm39)	R113*	probably null	Het
Pik3r4	G	T	9: 105,564,443 (GRCm39)	V1346L	probably benign	Het
Prl8a1	C	T	13: 27,758,055 (GRCm39)	R218H	possibly damaging	Het
Pum3	T	C	19: 27,376,310 (GRCm39)	E536G	probably benign	Het
Rb1	T	C	14: 73,500,042 (GRCm39)	N535S	probably benign	Het
Rbm7	G	T	9: 48,401,016 (GRCm39)	D237E	probably benign	Het
Ripor1	T	C	8: 106,342,180 (GRCm39)	V122A	probably damaging	Het
Sdhc	C	T	1: 170,973,370 (GRCm39)	R11H	probably benign	Het
Sema3c	A	G	5: 17,887,029 (GRCm39)	N360S	possibly damaging	Het
Serpinb5	T	A	1: 106,809,437 (GRCm39)	M281K	probably benign	Het
Serpinc1	A	G	1: 160,822,889 (GRCm39)	E210G	probably benign	Het
Shoc2	T	C	19: 53,976,202 (GRCm39)	S31P	probably benign	Het
Sult2a3	T	A	7: 13,856,836 (GRCm39)	N28I	possibly damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Tacc3	G	A	5: 33,821,941 (GRCm39)	V234I	probably benign	Het
Tacr1	A	T	6: 82,469,511 (GRCm39)	M132L	possibly damaging	Het
Tas2r104	C	A	6: 131,662,257 (GRCm39)	V151F	probably benign	Het
Tbc1d10b	C	T	7: 126,802,950 (GRCm39)	S326N	probably benign	Het
Trim12c	C	T	7: 103,997,451 (GRCm39)	C35Y	probably damaging	Het
Trrap	T	C	5: 144,755,123 (GRCm39)	I2067T	probably benign	Het
Upk1a	T	C	7: 30,306,311 (GRCm39)	I152V	probably benign	Het
Vmn2r39	T	G	7: 9,017,955 (GRCm39)	T794P	probably damaging	Het
Wnk2	G	A	13: 49,210,708 (GRCm39)	P1704S	probably damaging	Het
Zfp609	T	C	9: 65,610,593 (GRCm39)	E790G	possibly damaging	Het
Zmym1	G	T	4: 126,942,405 (GRCm39)	T563K	probably damaging	Het
Zranb1	T	A	7: 132,551,745 (GRCm39)	F132Y	probably benign	Het
Zranb3	C	T	1: 128,019,599 (GRCm39)	A48T	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
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
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'- CAGCAGCCATTGTAACCTTGCAC -3'
(R):5'- TGGAAGAGTTCATCCTCATCCTCCC -3'

Sequencing Primer
(F):5'- TGTAACCTTGCACAAAAGGTCAG -3'
(R):5'- CAGTCCCAAGCTGAGGTTAC -3'

Posted On

2014-03-28