Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Prkcb'

506397

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

044374-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121888327-122233625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122167386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 365 (D365E)

Ref Sequence

ENSEMBL: ENSMUSP00000138788 (fasta)

Gene Model

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

AlphaFold

P68404

Predicted Effect

probably benign
Transcript: ENSMUST00000064921
AA Change: D365E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064812
Gene: ENSMUSG00000052889
AA Change: D365E

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 benign
Transcript: ENSMUST00000064989
AA Change: D365E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070019
Gene: ENSMUSG00000052889
AA Change: D365E

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
AA Change: D365E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138788
Gene: ENSMUSG00000052889
AA Change: D365E

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

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
Abcf1	A	T	17: 36,272,074 (GRCm39)	N313K	probably benign	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Adamts6	A	T	13: 104,598,790 (GRCm39)	Q877L	probably benign	Het
Adgre4	C	T	17: 56,109,133 (GRCm39)	T380I	possibly damaging	Het
Aspm	A	G	1: 139,409,791 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,102 (GRCm39)		probably null	Het
Bcl6b	C	T	11: 70,116,878 (GRCm39)	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,258,580 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,641,364 (GRCm39)	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Ccser1	A	G	6: 61,350,946 (GRCm39)	D501G	probably damaging	Het
Ccser1	A	G	6: 62,356,769 (GRCm39)	T736A	probably benign	Het
Cd164l2	T	A	4: 132,948,345 (GRCm39)	C19S	unknown	Het
Cdk15	G	A	1: 59,296,264 (GRCm39)		probably null	Het
Cebpz	T	C	17: 79,243,261 (GRCm39)	E131G	probably benign	Het
Ces1d	T	C	8: 93,893,025 (GRCm39)	D519G	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Chd1	T	G	17: 15,950,465 (GRCm39)		probably null	Het
Chil4	T	A	3: 106,111,412 (GRCm39)	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,300,080 (GRCm39)	S173T	probably damaging	Het
Cpd	A	T	11: 76,703,496 (GRCm39)	F456I	probably benign	Het
Cst8	C	A	2: 148,647,365 (GRCm39)	A125E	probably damaging	Het
Dars2	G	T	1: 160,869,398 (GRCm39)	P617Q	probably damaging	Het
Defb26	A	G	2: 152,349,860 (GRCm39)	V140A	unknown	Het
Dntt	T	G	19: 41,041,501 (GRCm39)	V395G	probably damaging	Het
Dock10	G	A	1: 80,481,413 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,474,914 (GRCm39)	N1216S	possibly damaging	Het
En1	A	T	1: 120,531,636 (GRCm39)	D292V	unknown	Het
Erbb4	A	T	1: 68,435,432 (GRCm39)	L155Q	probably damaging	Het
Erbin	T	C	13: 103,998,796 (GRCm39)	T197A	probably benign	Het
Fat2	A	G	11: 55,153,407 (GRCm39)	F3602L	probably benign	Het
Fcsk	A	T	8: 111,617,177 (GRCm39)	C365S	probably benign	Het
Gm3443	A	T	19: 21,533,075 (GRCm39)	D13V	unknown	Het
Gm6401	T	C	14: 41,789,828 (GRCm39)	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,677,623 (GRCm39)	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H2-T24	T	A	17: 36,325,574 (GRCm39)	T305S	probably benign	Het
Ksr2	A	T	5: 117,552,909 (GRCm39)	M6L	probably benign	Het
Lama2	A	G	10: 26,862,895 (GRCm39)	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,951,557 (GRCm39)	T123A	probably benign	Het
Lrp1b	T	A	2: 40,486,981 (GRCm39)		probably null	Het
Ltn1	G	A	16: 87,208,662 (GRCm39)	A812V	possibly damaging	Het
Maml2	C	T	9: 13,531,722 (GRCm39)	S312L	probably damaging	Het
Myo7b	T	A	18: 32,146,468 (GRCm39)	N106Y	probably damaging	Het
Nacc2	A	T	2: 25,950,420 (GRCm39)	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,570,173 (GRCm39)	I224T	probably damaging	Het
Nf1	A	T	11: 79,440,317 (GRCm39)	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,784,349 (GRCm39)		probably null	Het
Nup155	C	T	15: 8,180,282 (GRCm39)	R1120*	probably null	Het
Oas3	C	A	5: 120,899,200 (GRCm39)		probably benign	Het
Ocln	T	C	13: 100,676,017 (GRCm39)	I159V	probably benign	Het
Or1p1c	T	C	11: 74,160,833 (GRCm39)	V206A	probably damaging	Het
Or2t45	T	A	11: 58,669,829 (GRCm39)	V292E	probably damaging	Het
Os9	A	C	10: 126,955,006 (GRCm39)	C181G	probably damaging	Het
Phldb1	C	T	9: 44,607,437 (GRCm39)	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,892,195 (GRCm39)	T208I	probably benign	Het
Plppr4	T	C	3: 117,116,228 (GRCm39)	Q485R	possibly damaging	Het
Ptprz1	T	A	6: 22,959,639 (GRCm39)	N45K	probably damaging	Het
Rbl2	T	C	8: 91,842,306 (GRCm39)	L987P	probably damaging	Het
Runx1	T	A	16: 92,492,799 (GRCm39)		probably benign	Het
Septin4	C	A	11: 87,481,175 (GRCm39)	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Sri	T	A	5: 8,109,596 (GRCm39)		probably null	Het
St3gal3	C	T	4: 117,964,875 (GRCm39)		probably benign	Het
Tfpt	A	T	7: 3,632,566 (GRCm39)	L3*	probably null	Het
Tgfb3	T	C	12: 86,124,615 (GRCm39)	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,987 (GRCm39)	C678*	probably null	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,462,297 (GRCm39)		probably benign	Het
Tmprss15	A	T	16: 78,769,113 (GRCm39)	V769E	probably damaging	Het
Trak1	C	T	9: 121,275,821 (GRCm39)	R175C	probably damaging	Het
Trak1	G	T	9: 121,196,290 (GRCm39)	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,039,375 (GRCm39)	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,699,835 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,732,099 (GRCm39)	C158*	probably null	Het
Vmn2r79	A	T	7: 86,651,778 (GRCm39)	L392F	probably benign	Het
Zfp536	T	A	7: 37,179,830 (GRCm39)	D925V	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
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
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'- CAAAGTCTGAGGTGGTTGCG -3'
(R):5'- CAGGATGGCAACTGTTACTGG -3'

Sequencing Primer
(F):5'- CTGAGGTGGTTGCGAAGTGTTAC -3'
(R):5'- TGTTACTGGCCCAAACCCG -3'

Posted On

2018-03-15