Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Prkcd'

232961

Institutional Source

Beutler Lab

Gene Symbol

Prkcd

Ensembl Gene

ENSMUSG00000021948

Gene Name

protein kinase C, delta

Synonyms

PKC[d], D14Ertd420e, Pkcd, PKCdelta

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

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

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30317311-30348167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30327808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 208 (C208R)

Ref Sequence

ENSEMBL: ENSMUSP00000107830 (fasta)

Gene Model

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

AlphaFold

P28867

Predicted Effect

probably damaging
Transcript: ENSMUST00000022521
AA Change: C208R

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

SMART Domains

Protein: ENSMUSP00000022521
Gene: ENSMUSG00000021948
AA Change: C208R

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 damaging
Transcript: ENSMUST00000112202
AA Change: C93R

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

SMART Domains

Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948
AA Change: C93R

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 damaging
Transcript: ENSMUST00000112203
AA Change: C93R

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

SMART Domains

Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948
AA Change: C93R

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 damaging
Transcript: ENSMUST00000112206
AA Change: C93R

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

SMART Domains

Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948
AA Change: C93R

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 damaging
Transcript: ENSMUST00000112207
AA Change: C93R

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

SMART Domains

Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948
AA Change: C93R

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 damaging
Transcript: ENSMUST00000112210
AA Change: C208R

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

SMART Domains

Protein: ENSMUSP00000107829
Gene: ENSMUSG00000021948
AA Change: C208R

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 damaging
Transcript: ENSMUST00000112211
AA Change: C208R

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

SMART Domains

Protein: ENSMUSP00000107830
Gene: ENSMUSG00000021948
AA Change: C208R

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: ENSMUST00000135714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227078

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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 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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,340,998 (GRCm39)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,719,473 (GRCm39)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,650,421 (GRCm39)	M4T	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Rusc1	T	C	3: 88,999,014 (GRCm39)	D256G	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcf3	C	A	10: 80,246,040 (GRCm39)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	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
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
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'- TTGTCAGAGGCCTAACAGGG -3'
(R):5'- TTTTCAGGCTGCTCTGGAAAG -3'

Sequencing Primer
(F):5'- TAACAGGGCTCCACCAAGGTC -3'
(R):5'- TGCTCTGGAAAGGCTAGCG -3'

Posted On

2014-09-18