Mutagenetix > Incidental Mutation

Incidental Mutation 'R4750:Prkcd'

357524

Institutional Source

Beutler Lab

Gene Symbol

Prkcd

Ensembl Gene

ENSMUSG00000021948

Gene Name

protein kinase C, delta

Synonyms

Pkcd, D14Ertd420e, PKC[d], PKCdelta

MMRRC Submission

042031-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

R4750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30595354-30626210 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 30610301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

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 null
Transcript: ENSMUST00000022521
AA Change: M1T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022521
Gene: ENSMUSG00000021948
AA Change: M1T

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

SMART Domains

Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948

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

SMART Domains

Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948

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

SMART Domains

Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948

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

SMART Domains

Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948

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 null
Transcript: ENSMUST00000112210
AA Change: M1T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107829
Gene: ENSMUSG00000021948
AA Change: M1T

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 null
Transcript: ENSMUST00000112211
AA Change: M1T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107830
Gene: ENSMUSG00000021948
AA Change: M1T

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: ENSMUST00000130736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227078

Meta Mutation Damage Score

0.9696

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008P14Rik	C	T	2: 32,379,413		probably null	Het
1700074P13Rik	A	G	6: 40,921,021	W243R	probably damaging	Het
2510039O18Rik	T	A	4: 147,941,488	L155Q	probably damaging	Het
Aadac	T	C	3: 60,035,817	F48L	probably benign	Het
Aadat	T	A	8: 60,526,600	N165K	probably benign	Het
Acan	C	A	7: 79,092,718	D557E	probably damaging	Het
Adamts4	T	A	1: 171,251,066	V85D	probably benign	Het
Agt	A	G	8: 124,556,937	V481A	probably benign	Het
Angpt1	T	C	15: 42,676,401	N21D	probably benign	Het
Ankrd52	A	C	10: 128,378,089	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,104,365	Q247K	probably damaging	Het
Apaf1	T	C	10: 91,060,188	R341G	probably damaging	Het
Arf2	T	C	11: 103,979,759		probably null	Het
Arhgef1	A	G	7: 24,918,576		probably benign	Het
Bbox1	T	A	2: 110,265,521	Y366F	possibly damaging	Het
Bmp3	A	G	5: 98,872,558	E280G	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	T	A	15: 21,583,808	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,476,199	S282P	probably damaging	Het
Cfap46	A	G	7: 139,679,323		probably null	Het
Cfhr3	T	A	1: 139,584,828		noncoding transcript	Het
Ctrc	T	A	4: 141,841,523	Y123F	probably benign	Het
Enpp4	A	G	17: 44,102,355	M96T	probably damaging	Het
Exosc10	T	A	4: 148,562,394	S154T	possibly damaging	Het
Fbxo21	G	A	5: 118,000,468	R486H	probably benign	Het
Foxj3	C	A	4: 119,616,590	A204E	probably damaging	Het
Gas6	T	G	8: 13,476,227	D237A	probably benign	Het
Gimap8	A	G	6: 48,650,427	S112G	probably benign	Het
Gm4787	T	C	12: 81,378,367	N339S	possibly damaging	Het
Gm6185	T	C	1: 161,182,363		noncoding transcript	Het
Gramd3	A	G	18: 56,432,300	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,167,496	D169E	probably benign	Het
Isl2	T	A	9: 55,544,312	V162D	probably benign	Het
Kcns3	T	A	12: 11,091,654	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,626	P1318S	probably benign	Het
Kif12	T	A	4: 63,167,783	Q415L	probably damaging	Het
Lama3	T	A	18: 12,504,359	H45Q	probably benign	Het
Lonp2	A	T	8: 86,631,502	K117M	probably benign	Het
Loxl4	T	A	19: 42,605,004	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,735,564	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,455,480	I3187L	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Mecom	T	G	3: 29,957,530	K865Q	probably damaging	Het
Myh10	T	C	11: 68,785,314	I790T	probably damaging	Het
Nek7	C	T	1: 138,498,673	S234N	probably damaging	Het
Nepro	T	C	16: 44,730,182	L179P	probably damaging	Het
Nexn	A	G	3: 152,237,722	C649R	probably damaging	Het
Nsmf	T	C	2: 25,055,026	S34P	probably damaging	Het
Olfr1140	C	T	2: 87,746,508	T104I	probably benign	Het
Olfr1339	T	A	4: 118,734,733	V68D	possibly damaging	Het
Olfr1350	A	G	7: 6,570,851	I287V	probably benign	Het
Olfr1364	A	G	13: 21,573,743	S238P	possibly damaging	Het
Olfr354	T	A	2: 36,907,716	S257T	probably benign	Het
Olfr406	T	A	11: 74,269,420	F10L	probably benign	Het
Olfr417	A	G	1: 174,368,922	I2V	probably benign	Het
Olfr685	A	T	7: 105,180,926	I144N	probably damaging	Het
Olfr702	A	G	7: 106,824,307	F73S	probably damaging	Het
P2rx5	G	T	11: 73,164,877	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,506,131	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,211,417	H32R	unknown	Het
Pkhd1	T	A	1: 20,524,112	D1259V	possibly damaging	Het
Plekha7	A	T	7: 116,137,311	V889E	probably damaging	Het
Polr2b	A	C	5: 77,332,039	E546D	possibly damaging	Het
Ppm1l	A	G	3: 69,549,328	T193A	probably damaging	Het
Ppp1r37	G	T	7: 19,531,520	D710E	probably benign	Het
Prdm4	A	G	10: 85,899,221	F679L	probably damaging	Het
Rcor3	A	G	1: 192,130,449	Y77H	unknown	Het
Rdh5	T	C	10: 128,918,366	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,982,931	M396V	probably benign	Het
Slco5a1	T	G	1: 12,879,280	T629P	probably damaging	Het
Smarca5	A	C	8: 80,733,707	N133K	probably benign	Het
Spag5	T	C	11: 78,320,052	M927T	probably benign	Het
Spint4	A	T	2: 164,700,146	D39V	probably damaging	Het
Syt6	T	A	3: 103,630,917	*512R	probably null	Het
Tmem247	T	C	17: 86,922,342	C204R	probably damaging	Het
Tmem72	A	G	6: 116,695,434	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,876,064	V1816A	probably damaging	Het
Usp35	A	G	7: 97,310,339	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,591,052	S1075P	probably damaging	Het
Wdr34	T	C	2: 30,033,920	T198A	probably benign	Het
Xylb	G	T	9: 119,359,313	G62*	probably null	Het
Zfp142	T	C	1: 74,572,458	E623G	probably damaging	Het
Zfp239	A	G	6: 117,871,739	Y146C	probably damaging	Het

Other mutations in Prkcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Prkcd	APN	14	30602422	splice site	probably benign
IGL00715:Prkcd	APN	14	30596003	missense	probably damaging	1.00
IGL01914:Prkcd	APN	14	30607426	missense	possibly damaging	0.49
IGL02177:Prkcd	APN	14	30605887	missense	probably damaging	1.00
IGL02547:Prkcd	APN	14	30599469	missense	probably damaging	1.00
IGL02681:Prkcd	APN	14	30601233	critical splice acceptor site	probably null
Rigged	UTSW	14	30610301	start codon destroyed	probably null	0.99
rigged2	UTSW	14	30599743	missense	probably damaging	1.00
IGL03014:Prkcd	UTSW	14	30607337	missense	probably damaging	1.00
R0240:Prkcd	UTSW	14	30602088	missense	probably damaging	0.97
R0240:Prkcd	UTSW	14	30602088	missense	probably damaging	0.97
R1385:Prkcd	UTSW	14	30607405	missense	probably damaging	1.00
R1567:Prkcd	UTSW	14	30607448	missense	probably benign	0.35
R2114:Prkcd	UTSW	14	30605851	missense	probably damaging	1.00
R2983:Prkcd	UTSW	14	30599478	missense	probably damaging	1.00
R3716:Prkcd	UTSW	14	30599712	missense	probably benign	0.00
R4162:Prkcd	UTSW	14	30601197	missense	probably damaging	0.98
R4164:Prkcd	UTSW	14	30601197	missense	probably damaging	0.98
R4180:Prkcd	UTSW	14	30610304	utr 5 prime	probably benign
R4637:Prkcd	UTSW	14	30598765	missense	probably benign	0.00
R4756:Prkcd	UTSW	14	30599666	missense	probably benign	0.00
R4849:Prkcd	UTSW	14	30599743	missense	probably damaging	1.00
R4850:Prkcd	UTSW	14	30599743	missense	probably damaging	1.00
R4893:Prkcd	UTSW	14	30599425	missense	probably damaging	1.00
R4914:Prkcd	UTSW	14	30605438	critical splice donor site	probably null
R4925:Prkcd	UTSW	14	30607613	missense	probably damaging	0.98
R5644:Prkcd	UTSW	14	30607413	missense	probably benign	0.06
R5832:Prkcd	UTSW	14	30605821	missense	probably damaging	0.99
R5910:Prkcd	UTSW	14	30595981	missense	probably benign	0.01
R6049:Prkcd	UTSW	14	30607297	missense	possibly damaging	0.95
R6322:Prkcd	UTSW	14	30599663	missense	probably damaging	1.00
R7177:Prkcd	UTSW	14	30599707	missense	probably damaging	1.00
R7358:Prkcd	UTSW	14	30605836	missense	probably benign
R7494:Prkcd	UTSW	14	30609193	missense	probably benign	0.00
R7554:Prkcd	UTSW	14	30609263	missense	probably damaging	0.96
R7778:Prkcd	UTSW	14	30605815	critical splice donor site	probably null
R7810:Prkcd	UTSW	14	30598450	splice site	probably null
R8020:Prkcd	UTSW	14	30609244	missense	possibly damaging	0.58
R8145:Prkcd	UTSW	14	30602062	missense	probably benign	0.03
R8417:Prkcd	UTSW	14	30609251	missense	probably benign	0.36
R9009:Prkcd	UTSW	14	30607340	missense	probably damaging	0.99
R9246:Prkcd	UTSW	14	30605475	missense	probably damaging	1.00
R9528:Prkcd	UTSW	14	30601811	missense	probably damaging	1.00
R9748:Prkcd	UTSW	14	30598843	missense	possibly damaging	0.87
R9783:Prkcd	UTSW	14	30599487	missense	probably damaging	0.99
Z1176:Prkcd	UTSW	14	30610249	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AACTGGGTGCTTCTGTCTTC -3'
(R):5'- CCTGGCATGTACAGCTGTTC -3'

Sequencing Primer
(F):5'- ATCCTCAGCTGGGTCGTTCAG -3'
(R):5'- CTGTAATTGCCTAAGGATCACAGGC -3'

Posted On

2015-11-11