Mutagenetix > Incidental Mutation

Incidental Mutation 'R5644:Prkcd'

441003

Institutional Source

Beutler Lab

Gene Symbol

Prkcd

Ensembl Gene

ENSMUSG00000021948

Gene Name

protein kinase C, delta

Synonyms

PKC[d], D14Ertd420e, Pkcd, PKCdelta

MMRRC Submission

043292-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30317311-30348167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30329370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 23 (K23N)

Ref Sequence

ENSEMBL: ENSMUSP00000107822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022521] [ENSMUST00000112202] [ENSMUST00000112203] [ENSMUST00000112206] [ENSMUST00000112207] [ENSMUST00000112210] [ENSMUST00000112211]

AlphaFold

P28867

Predicted Effect

probably benign
Transcript: ENSMUST00000022521
AA Change: K138N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022521
Gene: ENSMUSG00000021948
AA Change: K138N

Domain	Start	End	E-Value	Type
C2	11	100	1.28e0	SMART
C1	159	208	1.38e-13	SMART
C1	231	280	3.19e-18	SMART
S_TKc	373	627	1.17e-97	SMART
S_TK_X	628	691	8.92e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112202
AA Change: K23N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948
AA Change: K23N

Domain	Start	End	E-Value	Type
C1	44	93	1.38e-13	SMART
C1	116	165	3.19e-18	SMART
S_TKc	258	512	1.17e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112203
AA Change: K23N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948
AA Change: K23N

Domain	Start	End	E-Value	Type
C1	44	93	1.38e-13	SMART
C1	116	165	3.19e-18	SMART
S_TKc	232	486	1.17e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112206
AA Change: K23N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948
AA Change: K23N

Domain	Start	End	E-Value	Type
C1	44	93	1.38e-13	SMART
C1	116	165	3.19e-18	SMART
S_TKc	258	512	1.17e-97	SMART
S_TK_X	513	576	8.92e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112207
AA Change: K23N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948
AA Change: K23N

Domain	Start	End	E-Value	Type
C1	44	93	1.38e-13	SMART
C1	116	165	3.19e-18	SMART
S_TKc	232	486	1.17e-97	SMART
S_TK_X	487	550	8.92e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112208

SMART Domains

Protein: ENSMUSP00000107827
Gene: ENSMUSG00000021948

Domain	Start	End	E-Value	Type
C2	11	100	1.28e0	SMART
C1	159	208	1.38e-13	SMART
C1	231	280	3.19e-18	SMART
S_TKc	347	601	1.17e-97	SMART
S_TK_X	602	665	8.92e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112210
AA Change: K138N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107829
Gene: ENSMUSG00000021948
AA Change: K138N

Domain	Start	End	E-Value	Type
C2	11	100	1.28e0	SMART
C1	159	208	1.38e-13	SMART
C1	231	280	3.19e-18	SMART
S_TKc	347	601	1.17e-97	SMART
S_TK_X	602	665	8.92e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130736

Predicted Effect

probably benign
Transcript: ENSMUST00000112211
AA Change: K138N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107830
Gene: ENSMUSG00000021948
AA Change: K138N

Domain	Start	End	E-Value	Type
C2	11	100	1.28e0	SMART
C1	159	208	1.38e-13	SMART
C1	231	280	3.19e-18	SMART
S_TKc	373	627	1.17e-97	SMART
S_TK_X	628	691	8.92e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227078

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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 the 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 distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased neutrophil cell numbers and activity, increased B cell numbers and proliferation, increased acute inflammation, and increased IgG1 and IgA serum levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,308,678 (GRCm39)	D805E	probably damaging	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384 (GRCm39)	V559F	probably damaging	Het
Apba2	A	G	7: 64,365,259 (GRCm39)	T346A	probably benign	Het
Arhgap10	C	T	8: 78,137,684 (GRCm39)	M302I	probably benign	Het
Asah1	G	T	8: 41,813,332 (GRCm39)	T27K	possibly damaging	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Cacna1a	A	G	8: 85,189,406 (GRCm39)	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Ccar1	T	C	10: 62,607,757 (GRCm39)	N302S	probably benign	Het
Ccdc93	A	G	1: 121,411,065 (GRCm39)	H446R	probably benign	Het
Cct6b	A	T	11: 82,613,281 (GRCm39)	L420Q	probably benign	Het
Cemip	T	C	7: 83,638,392 (GRCm39)	T273A	probably benign	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cfap221	A	G	1: 119,860,532 (GRCm39)	L698P	probably damaging	Het
Cfap43	T	A	19: 47,784,114 (GRCm39)	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,311,326 (GRCm39)	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,604,138 (GRCm39)	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,546,302 (GRCm39)	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,580,138 (GRCm39)	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dpp8	G	A	9: 64,953,017 (GRCm39)	W231*	probably null	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Fgd6	T	A	10: 93,969,912 (GRCm39)	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,666,409 (GRCm39)	Y875N	probably damaging	Het
Gaa	T	A	11: 119,171,361 (GRCm39)	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,450,138 (GRCm39)	D52G	probably damaging	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gpam	A	T	19: 55,077,331 (GRCm39)	D153E	probably benign	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,783,517 (GRCm39)	V297D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,680 (GRCm39)	S107T	possibly damaging	Het
Kif12	T	A	4: 63,084,130 (GRCm39)	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,322,939 (GRCm39)	D660G	probably damaging	Het
Klf13	T	C	7: 63,541,308 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lao1	T	A	4: 118,822,433 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lyst	A	T	13: 13,812,081 (GRCm39)	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,820,839 (GRCm39)	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mrgprb5	G	A	7: 47,817,955 (GRCm39)	T260I	probably benign	Het
Mybpc2	T	C	7: 44,156,477 (GRCm39)	T825A	probably benign	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Naalad2	G	T	9: 18,246,227 (GRCm39)	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,167,916 (GRCm39)	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,257,993 (GRCm39)	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or5ae1	C	A	7: 84,565,327 (GRCm39)	F113L	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or5p58	A	T	7: 107,694,011 (GRCm39)	Y255*	probably null	Het
Or5p60	A	G	7: 107,723,858 (GRCm39)	F204S	probably benign	Het
Or6c2	A	T	10: 129,362,972 (GRCm39)	N292I	probably damaging	Het
Or6c76b	T	A	10: 129,693,296 (GRCm39)	V303E	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
P2ry12	A	T	3: 59,125,516 (GRCm39)	M53K	possibly damaging	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,028,619 (GRCm39)	S175P	probably benign	Het
Pgbd1	A	G	13: 21,607,322 (GRCm39)	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Pramel16	C	T	4: 143,675,374 (GRCm39)	G484D	probably benign	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rad54l	C	T	4: 115,956,144 (GRCm39)	S561N	probably benign	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Rtl1	C	T	12: 109,558,013 (GRCm39)	M1275I	probably benign	Het
Ryr2	C	A	13: 11,610,468 (GRCm39)	E4119D	probably damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562 (GRCm39)	T8S	probably benign	Het
Slc22a30	T	C	19: 8,381,980 (GRCm39)	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Smc6	T	A	12: 11,339,995 (GRCm39)	N434K	probably benign	Het
Snap91	G	T	9: 86,672,206 (GRCm39)		probably null	Het
Srsf10	T	C	4: 135,591,131 (GRCm39)	S194P	possibly damaging	Het
St14	T	C	9: 31,017,806 (GRCm39)	M205V	probably benign	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,182,435 (GRCm39)	D163V	probably benign	Het
Trim15	T	C	17: 37,177,713 (GRCm39)	E94G	probably damaging	Het
Trit1	T	C	4: 122,942,965 (GRCm39)	I279T	probably damaging	Het
Trpm8	T	A	1: 88,287,461 (GRCm39)	F815I	possibly damaging	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,574,204 (GRCm39)	D446E	probably benign	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,403,194 (GRCm39)	L550P	probably damaging	Het

Other mutations in Prkcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Prkcd	APN	14	30,324,379 (GRCm39)	splice site	probably benign
IGL00715:Prkcd	APN	14	30,317,960 (GRCm39)	missense	probably damaging	1.00
IGL01914:Prkcd	APN	14	30,329,383 (GRCm39)	missense	possibly damaging	0.49
IGL02177:Prkcd	APN	14	30,327,844 (GRCm39)	missense	probably damaging	1.00
IGL02547:Prkcd	APN	14	30,321,426 (GRCm39)	missense	probably damaging	1.00
IGL02681:Prkcd	APN	14	30,323,190 (GRCm39)	critical splice acceptor site	probably null
Rigged	UTSW	14	30,332,258 (GRCm39)	start codon destroyed	probably null	0.99
rigged2	UTSW	14	30,321,700 (GRCm39)	missense	probably damaging	1.00
IGL03014:Prkcd	UTSW	14	30,329,294 (GRCm39)	missense	probably damaging	1.00
R0240:Prkcd	UTSW	14	30,324,045 (GRCm39)	missense	probably damaging	0.97
R0240:Prkcd	UTSW	14	30,324,045 (GRCm39)	missense	probably damaging	0.97
R1385:Prkcd	UTSW	14	30,329,362 (GRCm39)	missense	probably damaging	1.00
R1567:Prkcd	UTSW	14	30,329,405 (GRCm39)	missense	probably benign	0.35
R2114:Prkcd	UTSW	14	30,327,808 (GRCm39)	missense	probably damaging	1.00
R2983:Prkcd	UTSW	14	30,321,435 (GRCm39)	missense	probably damaging	1.00
R3716:Prkcd	UTSW	14	30,321,669 (GRCm39)	missense	probably benign	0.00
R4162:Prkcd	UTSW	14	30,323,154 (GRCm39)	missense	probably damaging	0.98
R4164:Prkcd	UTSW	14	30,323,154 (GRCm39)	missense	probably damaging	0.98
R4180:Prkcd	UTSW	14	30,332,261 (GRCm39)	utr 5 prime	probably benign
R4637:Prkcd	UTSW	14	30,320,722 (GRCm39)	missense	probably benign	0.00
R4750:Prkcd	UTSW	14	30,332,258 (GRCm39)	start codon destroyed	probably null	0.99
R4756:Prkcd	UTSW	14	30,321,623 (GRCm39)	missense	probably benign	0.00
R4849:Prkcd	UTSW	14	30,321,700 (GRCm39)	missense	probably damaging	1.00
R4850:Prkcd	UTSW	14	30,321,700 (GRCm39)	missense	probably damaging	1.00
R4893:Prkcd	UTSW	14	30,321,382 (GRCm39)	missense	probably damaging	1.00
R4914:Prkcd	UTSW	14	30,327,395 (GRCm39)	critical splice donor site	probably null
R4925:Prkcd	UTSW	14	30,329,570 (GRCm39)	missense	probably damaging	0.98
R5832:Prkcd	UTSW	14	30,327,778 (GRCm39)	missense	probably damaging	0.99
R5910:Prkcd	UTSW	14	30,317,938 (GRCm39)	missense	probably benign	0.01
R6049:Prkcd	UTSW	14	30,329,254 (GRCm39)	missense	possibly damaging	0.95
R6322:Prkcd	UTSW	14	30,321,620 (GRCm39)	missense	probably damaging	1.00
R7177:Prkcd	UTSW	14	30,321,664 (GRCm39)	missense	probably damaging	1.00
R7358:Prkcd	UTSW	14	30,327,793 (GRCm39)	missense	probably benign
R7494:Prkcd	UTSW	14	30,331,150 (GRCm39)	missense	probably benign	0.00
R7554:Prkcd	UTSW	14	30,331,220 (GRCm39)	missense	probably damaging	0.96
R7778:Prkcd	UTSW	14	30,327,772 (GRCm39)	critical splice donor site	probably null
R7810:Prkcd	UTSW	14	30,320,407 (GRCm39)	splice site	probably null
R8020:Prkcd	UTSW	14	30,331,201 (GRCm39)	missense	possibly damaging	0.58
R8145:Prkcd	UTSW	14	30,324,019 (GRCm39)	missense	probably benign	0.03
R8417:Prkcd	UTSW	14	30,331,208 (GRCm39)	missense	probably benign	0.36
R9009:Prkcd	UTSW	14	30,329,297 (GRCm39)	missense	probably damaging	0.99
R9246:Prkcd	UTSW	14	30,327,432 (GRCm39)	missense	probably damaging	1.00
R9528:Prkcd	UTSW	14	30,323,768 (GRCm39)	missense	probably damaging	1.00
R9748:Prkcd	UTSW	14	30,320,800 (GRCm39)	missense	possibly damaging	0.87
R9783:Prkcd	UTSW	14	30,321,444 (GRCm39)	missense	probably damaging	0.99
Z1176:Prkcd	UTSW	14	30,332,206 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TTGTTGAGGCCCCTGAAAG -3'
(R):5'- GAGCTCTTTTGCCAGGTCAG -3'

Sequencing Primer
(F):5'- TAAGTGAGAATGCTCCAGTCCAGTC -3'
(R):5'- CCAGGTCAGAGGCAGAGC -3'

Posted On

2016-11-08