Mutagenetix > Incidental Mutation

Incidental Mutation 'R0306:Prkcsh'

35805

Institutional Source

Beutler Lab

Gene Symbol

Prkcsh

Ensembl Gene

ENSMUSG00000003402

Gene Name

protein kinase C substrate 80K-H

Synonyms

80K-H, hepatocystin

MMRRC Submission

038517-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0306 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

21914284-21925541 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 21917822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003493] [ENSMUST00000044926] [ENSMUST00000115331] [ENSMUST00000115336] [ENSMUST00000215795] [ENSMUST00000216344]

AlphaFold

O08795

Predicted Effect

probably benign
Transcript: ENSMUST00000003493

SMART Domains

Protein: ENSMUSP00000003493
Gene: ENSMUSG00000003402

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
LDLa	32	72	3.01e-2	SMART
internal_repeat_1	91	105	3.48e-7	PROSPERO
low complexity region	177	191	N/A	INTRINSIC
Pfam:EF-hand_5	214	236	5.5e-5	PFAM
Pfam:EF-hand_5	239	257	4.4e-4	PFAM
low complexity region	290	341	N/A	INTRINSIC
Pfam:PRKCSH_1	366	512	4.3e-23	PFAM
Pfam:PRKCSH	406	464	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044926

SMART Domains

Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632

Domain	Start	End	E-Value	Type
coiled coil region	88	286	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
coiled coil region	378	420	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	550	565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115331

SMART Domains

Protein: ENSMUSP00000110987
Gene: ENSMUSG00000003402

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
LDLa	32	72	3.01e-2	SMART
internal_repeat_1	91	105	1.7e-7	PROSPERO
low complexity region	177	191	N/A	INTRINSIC
Pfam:EF-hand_5	215	236	3.2e-5	PFAM
Pfam:EF-hand_5	239	257	1.2e-3	PFAM
low complexity region	290	352	N/A	INTRINSIC
Pfam:PRKCSH_1	373	519	4.4e-23	PFAM
Pfam:PRKCSH	413	471	4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115336

SMART Domains

Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632

Domain	Start	End	E-Value	Type
coiled coil region	88	286	N/A	INTRINSIC
low complexity region	335	346	N/A	INTRINSIC
coiled coil region	379	421	N/A	INTRINSIC
low complexity region	496	515	N/A	INTRINSIC
low complexity region	551	566	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214565

Predicted Effect

probably benign
Transcript: ENSMUST00000215795

Predicted Effect

probably benign
Transcript: ENSMUST00000216344

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	T	C	6: 48,953,020 (GRCm39)	V315A	probably damaging	Het
BC028528	C	T	3: 95,797,132 (GRCm39)		probably benign	Het
Bspry	T	C	4: 62,414,394 (GRCm39)	F329S	probably damaging	Het
Cd209a	A	G	8: 3,795,535 (GRCm39)	Y120H	probably benign	Het
Ces1f	T	C	8: 94,003,172 (GRCm39)		probably benign	Het
Cfap52	T	C	11: 67,844,896 (GRCm39)	N58D	probably benign	Het
Cfap74	G	A	4: 155,549,896 (GRCm39)		probably benign	Het
Chst8	T	C	7: 34,374,723 (GRCm39)	E372G	probably benign	Het
Cplane1	T	C	15: 8,209,373 (GRCm39)	V270A	probably damaging	Het
Ddx49	A	G	8: 70,747,322 (GRCm39)		probably benign	Het
Ddx52	G	T	11: 83,835,474 (GRCm39)	L133F	probably benign	Het
Defb26	T	A	2: 152,349,888 (GRCm39)	I131F	unknown	Het
Dip2c	T	A	13: 9,654,635 (GRCm39)	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Dytn	G	A	1: 63,724,272 (GRCm39)	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,437,050 (GRCm39)		probably benign	Het
Gal3st1	T	A	11: 3,948,546 (GRCm39)	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,438,300 (GRCm39)		probably benign	Het
Il15	T	A	8: 83,061,083 (GRCm39)		probably benign	Het
Jag1	C	T	2: 136,927,855 (GRCm39)	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,744,530 (GRCm39)		probably benign	Het
Kdm3b	C	A	18: 34,937,070 (GRCm39)	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,403,283 (GRCm39)	I469F	probably damaging	Het
Mep1a	A	T	17: 43,813,534 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,944,986 (GRCm39)	F70S	probably damaging	Het
Nav2	C	A	7: 49,195,651 (GRCm39)	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,796,094 (GRCm39)	Y334C	probably damaging	Het
Nsun4	A	T	4: 115,910,019 (GRCm39)	Y180*	probably null	Het
Nup210l	T	C	3: 90,114,675 (GRCm39)	I1750T	probably benign	Het
Or51s1	A	T	7: 102,559,010 (GRCm39)	I12N	probably benign	Het
Or5p53	A	T	7: 107,532,907 (GRCm39)	Y60F	probably damaging	Het
Or8u9	T	A	2: 86,002,060 (GRCm39)	I34F	possibly damaging	Het
Parp14	A	G	16: 35,676,944 (GRCm39)	L1008P	probably benign	Het
Paxbp1	A	G	16: 90,819,003 (GRCm39)	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,227,520 (GRCm39)	Q42K	probably damaging	Het
Psmg1	A	G	16: 95,788,540 (GRCm39)	C138R	probably damaging	Het
Ptprb	T	C	10: 116,179,893 (GRCm39)	M1437T	probably benign	Het
Ryr3	A	G	2: 112,606,000 (GRCm39)		probably null	Het
Serpinf1	T	C	11: 75,304,761 (GRCm39)	Y200C	probably damaging	Het
Shox2	T	C	3: 66,881,167 (GRCm39)	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,881,485 (GRCm39)	F335L	probably benign	Het
Slc44a5	A	G	3: 153,975,638 (GRCm39)	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,019,987 (GRCm39)	T519S	probably benign	Het
Smarca2	T	A	19: 26,618,013 (GRCm39)	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,332,855 (GRCm39)	D521G	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Srp19	T	C	18: 34,467,629 (GRCm39)		probably benign	Het
Stk35	T	A	2: 129,643,683 (GRCm39)	Y222*	probably null	Het
Syt10	T	G	15: 89,711,191 (GRCm39)	K114T	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,478,180 (GRCm39)	V662A	probably benign	Het
Ttll4	G	A	1: 74,735,916 (GRCm39)	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,168,000 (GRCm39)		probably benign	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Vmn1r230	T	A	17: 21,066,895 (GRCm39)	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,915,616 (GRCm39)	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,609,341 (GRCm39)	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,266,621 (GRCm39)	A292E	possibly damaging	Het

Other mutations in Prkcsh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Prkcsh	APN	9	21,917,861 (GRCm39)	missense	possibly damaging	0.95
R0376:Prkcsh	UTSW	9	21,921,547 (GRCm39)	splice site	probably benign
R1690:Prkcsh	UTSW	9	21,921,871 (GRCm39)	missense	probably damaging	1.00
R1834:Prkcsh	UTSW	9	21,919,634 (GRCm39)	missense	probably damaging	0.98
R1856:Prkcsh	UTSW	9	21,915,871 (GRCm39)	missense	possibly damaging	0.55
R1980:Prkcsh	UTSW	9	21,924,164 (GRCm39)	missense	probably damaging	0.99
R1981:Prkcsh	UTSW	9	21,924,164 (GRCm39)	missense	probably damaging	0.99
R1982:Prkcsh	UTSW	9	21,924,164 (GRCm39)	missense	probably damaging	0.99
R2184:Prkcsh	UTSW	9	21,916,028 (GRCm39)	missense	probably damaging	1.00
R3625:Prkcsh	UTSW	9	21,922,548 (GRCm39)	missense	probably null	1.00
R4798:Prkcsh	UTSW	9	21,923,034 (GRCm39)	missense	probably damaging	1.00
R5059:Prkcsh	UTSW	9	21,924,046 (GRCm39)	missense	probably damaging	1.00
R5580:Prkcsh	UTSW	9	21,922,551 (GRCm39)	critical splice donor site	probably null
R7055:Prkcsh	UTSW	9	21,924,457 (GRCm39)	makesense	probably null
R8712:Prkcsh	UTSW	9	21,924,375 (GRCm39)	missense	probably damaging	0.99
R9463:Prkcsh	UTSW	9	21,923,982 (GRCm39)	missense	probably damaging	0.99
Z1176:Prkcsh	UTSW	9	21,924,351 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGACAGGCAAGCTTTGTGTGCTC -3'
(R):5'- TTGGGAAATGCTCAGCCAACCAC -3'

Sequencing Primer
(F):5'- TCTTAGGGACAGATCCGAGGC -3'
(R):5'- AACATTCAATGTTCACTCTACCG -3'

Posted On

2013-05-09