Mutagenetix > Incidental Mutation

Incidental Mutation 'R9748:Prkcd'

732351

Institutional Source

Beutler Lab

Gene Symbol

Prkcd

Ensembl Gene

ENSMUSG00000021948

Gene Name

protein kinase C, delta

Synonyms

PKC[d], D14Ertd420e, Pkcd, PKCdelta

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30317311-30348167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30320800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 607 (F607I)

Ref Sequence

ENSEMBL: ENSMUSP00000022521 (fasta)

Gene Model

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

AlphaFold

P28867

PDB Structure

PROTEIN KINASE C DELTA CYS2 DOMAIN [X-RAY DIFFRACTION]
PROTEIN KINASE C DELTA CYS2 DOMAIN COMPLEXED WITH PHORBOL-13-ACETATE [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase Cdelta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase Cdelta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase Cdelta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase C delta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase C delta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase C delta [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022521
AA Change: F607I

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022521
Gene: ENSMUSG00000021948
AA Change: F607I

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

possibly damaging
Transcript: ENSMUST00000112202
AA Change: F492I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948
AA Change: F492I

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

possibly damaging
Transcript: ENSMUST00000112203
AA Change: F466I

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948
AA Change: F466I

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

possibly damaging
Transcript: ENSMUST00000112206
AA Change: F492I

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948
AA Change: F492I

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

possibly damaging
Transcript: ENSMUST00000112207
AA Change: F466I

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948
AA Change: F466I

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

possibly damaging
Transcript: ENSMUST00000112210
AA Change: F581I

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107829
Gene: ENSMUSG00000021948
AA Change: F581I

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

possibly damaging
Transcript: ENSMUST00000112211
AA Change: F607I

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107830
Gene: ENSMUSG00000021948
AA Change: F607I

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,301,068 (GRCm39)	T221A	probably benign	Het
Adamts12	G	A	15: 11,310,628 (GRCm39)	V962I	probably damaging	Het
Ano3	T	A	2: 110,488,640 (GRCm39)	I931F	probably damaging	Het
Anxa2r2	T	A	13: 120,488,200 (GRCm39)	E116D	possibly damaging	Het
Arih1	T	G	9: 59,300,581 (GRCm39)	D555A	possibly damaging	Het
Arsg	A	G	11: 109,381,452 (GRCm39)	D65G	probably damaging	Het
Atp8b3	G	A	10: 80,364,407 (GRCm39)	T567I	probably damaging	Het
Camkk2	G	C	5: 122,872,182 (GRCm39)	R575G	probably benign	Het
Ccdc168	G	T	1: 44,095,824 (GRCm39)	S1758Y	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,461 (GRCm39)	L494M	probably damaging	Het
Cdc7	A	G	5: 107,123,405 (GRCm39)	K317E	possibly damaging	Het
Cfh	A	G	1: 140,090,687 (GRCm39)		probably null	Het
Cp	T	G	3: 20,043,335 (GRCm39)	V1041G	possibly damaging	Het
Cpeb3	A	G	19: 37,151,926 (GRCm39)	V150A	probably benign	Het
Cyp7a1	T	A	4: 6,269,216 (GRCm39)	E352V	probably damaging	Het
Dnah9	T	A	11: 65,976,290 (GRCm39)	H1253L	possibly damaging	Het
Dsg3	T	C	18: 20,672,761 (GRCm39)	S811P	possibly damaging	Het
Efcab5	A	T	11: 77,007,022 (GRCm39)	Y867*	probably null	Het
Eif2ak1	A	G	5: 143,819,031 (GRCm39)	T231A	probably damaging	Het
Eif2ak4	T	A	2: 118,247,730 (GRCm39)	C256S	probably benign	Het
Eif5b	A	G	1: 38,090,241 (GRCm39)	N1140S	possibly damaging	Het
Etnppl	A	T	3: 130,414,002 (GRCm39)	M34L	probably benign	Het
Fcrl5	T	G	3: 87,364,469 (GRCm39)	C549W	possibly damaging	Het
Fhod1	G	A	8: 106,058,323 (GRCm39)	A811V	probably damaging	Het
Flcn	C	T	11: 59,692,980 (GRCm39)	S198N	probably benign	Het
Fndc1	T	A	17: 7,991,929 (GRCm39)	H589L	unknown	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Hcn4	C	T	9: 58,730,996 (GRCm39)	R68W	unknown	Het
Igfn1	A	G	1: 135,926,336 (GRCm39)	L38P	possibly damaging	Het
Il1r1	A	G	1: 40,349,496 (GRCm39)	T351A	probably benign	Het
Ildr2	T	C	1: 166,096,889 (GRCm39)	L36P	probably damaging	Het
Itgb1bp1	C	T	12: 21,324,876 (GRCm39)	C60Y	probably damaging	Het
Jrk	A	G	15: 74,579,225 (GRCm39)	L20P	probably damaging	Het
Kif5c	C	T	2: 49,584,859 (GRCm39)	A194V	probably damaging	Het
Lrp4	C	T	2: 91,316,116 (GRCm39)	L745F	probably damaging	Het
Ly9	A	T	1: 171,428,722 (GRCm39)	D299E	possibly damaging	Het
Mfsd1	C	T	3: 67,499,910 (GRCm39)	T185I	possibly damaging	Het
Mprip	A	G	11: 59,656,348 (GRCm39)	Y808C	probably damaging	Het
Mrps2	C	A	2: 28,359,594 (GRCm39)	H150Q	possibly damaging	Het
Mtcl3	A	T	10: 29,024,398 (GRCm39)	D438V	probably damaging	Het
Mturn	A	T	6: 54,665,989 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nckap5	G	A	1: 125,953,939 (GRCm39)	P871L	probably damaging	Het
Ndst3	T	A	3: 123,421,631 (GRCm39)	I401F	probably benign	Het
Nek4	G	A	14: 30,709,114 (GRCm39)	V723M	possibly damaging	Het
Nfe2l2	A	G	2: 75,506,667 (GRCm39)	S478P	probably damaging	Het
Nol6	T	C	4: 41,123,538 (GRCm39)	Y70C	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Oas1h	A	T	5: 121,005,088 (GRCm39)	N179Y	probably damaging	Het
Or1o11	T	G	17: 37,756,595 (GRCm39)	V61G	probably benign	Het
Or8b39	T	A	9: 37,996,353 (GRCm39)	S74T	probably benign	Het
Otof	T	C	5: 30,540,998 (GRCm39)	D847G	probably damaging	Het
Pak1	C	A	7: 97,547,842 (GRCm39)	D331E	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,555 (GRCm39)	W1374R	probably benign	Het
Pkdrej	G	T	15: 85,704,871 (GRCm39)	T355K	possibly damaging	Het
Pramel27	A	G	4: 143,579,892 (GRCm39)	*492W	probably null	Het
Prrc2c	A	G	1: 162,535,435 (GRCm39)	S775P	unknown	Het
Prss16	G	T	13: 22,192,504 (GRCm39)	H154N	possibly damaging	Het
Psme2b	T	C	11: 48,836,779 (GRCm39)	D56G	possibly damaging	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rptn	A	G	3: 93,304,761 (GRCm39)	D698G	possibly damaging	Het
Rragc	T	C	4: 123,818,658 (GRCm39)	V291A	possibly damaging	Het
Rras2	A	G	7: 113,716,629 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scyl2	A	C	10: 89,476,794 (GRCm39)	M777R	probably benign	Het
Serhl	G	T	15: 82,998,597 (GRCm39)	V235L	probably benign	Het
Sh2b3	T	C	5: 121,955,874 (GRCm39)	Y536C	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,093 (GRCm39)	M570V	probably benign	Het
Slamf8	C	T	1: 172,411,800 (GRCm39)	V232M	probably benign	Het
Slc6a21	T	A	7: 44,929,941 (GRCm39)	L143Q	probably damaging	Het
Snx9	T	A	17: 5,949,670 (GRCm39)	D123E	probably benign	Het
Spopfm2	G	A	3: 94,083,155 (GRCm39)	H219Y	probably damaging	Het
Supt6	C	A	11: 78,108,767 (GRCm39)	R1178L	probably damaging	Het
Sycp2	T	G	2: 178,025,304 (GRCm39)	E379D	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tg	A	G	15: 66,719,008 (GRCm39)	M2655V	possibly damaging	Het
Tiam2	C	T	17: 3,561,440 (GRCm39)	T1335I	probably benign	Het
Tmem154	T	A	3: 84,573,693 (GRCm39)	L12Q	possibly damaging	Het
Trpv3	A	T	11: 73,174,499 (GRCm39)	I289F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,758 (GRCm39)	L365P	probably damaging	Het
Tulp4	T	C	17: 6,291,480 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,142,072 (GRCm39)	S163P	possibly damaging	Het
Usp42	A	T	5: 143,713,533 (GRCm39)		probably null	Het
Vmn2r94	A	G	17: 18,463,989 (GRCm39)	M767T	probably benign	Het
Wasl	A	G	6: 24,619,533 (GRCm39)	V329A	unknown	Het
Wdr62	T	A	7: 29,953,466 (GRCm39)	M635L	possibly damaging	Het
Wee1	G	T	7: 109,721,722 (GRCm39)	E56*	probably null	Het
Zc3h12c	C	T	9: 52,055,231 (GRCm39)	G193S	probably damaging	Het
Zfp236	T	A	18: 82,637,008 (GRCm39)	Q1426L	possibly damaging	Het
Zfp74	T	C	7: 29,634,751 (GRCm39)	Y319C	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
R5644:Prkcd	UTSW	14	30,329,370 (GRCm39)	missense	probably benign	0.06
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
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'- ATACACAGCATGCCAGGAGG -3'
(R):5'- ACTGTCTCAGAATTGCTAGAAGC -3'

Sequencing Primer
(F):5'- GCAGGCTTGCTGGAAGG -3'
(R):5'- GCTAGAAGCACATAGAAACCCC -3'

Posted On

2022-11-14