Mutagenetix > Incidental Mutation

Incidental Mutation 'R1980:Prkcsh'

222158

Institutional Source

Beutler Lab

Gene Symbol

Prkcsh

Ensembl Gene

ENSMUSG00000003402

Gene Name

protein kinase C substrate 80K-H

Synonyms

80K-H, hepatocystin

MMRRC Submission

039992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1980 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

21914284-21925541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21924164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 458 (D458G)

Ref Sequence

ENSEMBL: ENSMUSP00000110987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003493] [ENSMUST00000003501] [ENSMUST00000115331] [ENSMUST00000216344]

AlphaFold

O08795

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003493
AA Change: D451G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003493
Gene: ENSMUSG00000003402
AA Change: D451G

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: ENSMUST00000003501

SMART Domains

Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410

Domain	Start	End	E-Value	Type
low complexity region	14	33	N/A	INTRINSIC
RRM	40	113	9.99e-24	SMART
RRM	126	201	2.81e-18	SMART
low complexity region	266	283	N/A	INTRINSIC
RRM	285	358	1.79e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115331
AA Change: D458G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110987
Gene: ENSMUSG00000003402
AA Change: D458G

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: ENSMUST00000213700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214565

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216344
AA Change: D451G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.2256

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,386,702 (GRCm39)	I620S	possibly damaging	Het
Acot8	A	G	2: 164,636,964 (GRCm39)	F262S	probably damaging	Het
Adgb	C	T	10: 10,309,242 (GRCm39)	V246I	probably benign	Het
Akap9	T	A	5: 4,022,771 (GRCm39)	M1200K	probably damaging	Het
Alg11	T	A	8: 22,551,903 (GRCm39)	F16I	possibly damaging	Het
Apol7c	A	G	15: 77,410,244 (GRCm39)	V234A	probably benign	Het
Arhgap19	T	G	19: 41,776,784 (GRCm39)	I122L	possibly damaging	Het
Arhgef37	A	G	18: 61,641,767 (GRCm39)	S201P	probably damaging	Het
Asgr1	A	T	11: 69,945,772 (GRCm39)	D16V	probably damaging	Het
Camta2	A	T	11: 70,573,308 (GRCm39)	C227S	probably benign	Het
Cd22	A	T	7: 30,572,658 (GRCm39)	L317Q	probably damaging	Het
Cenpf	A	T	1: 189,386,112 (GRCm39)	I2056K	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Ciapin1	C	T	8: 95,559,161 (GRCm39)	V43I	probably benign	Het
Cox5b-ps	T	G	13: 21,685,294 (GRCm39)	T99P	possibly damaging	Het
Dach1	A	G	14: 98,068,777 (GRCm39)	L601P	probably damaging	Het
Ddx11	T	A	17: 66,455,734 (GRCm39)	L711Q	probably damaging	Het
Dsg1a	A	T	18: 20,471,707 (GRCm39)	N653I	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Galnt5	T	C	2: 57,914,735 (GRCm39)		probably null	Het
Gemin5	A	G	11: 58,027,743 (GRCm39)	L935P	probably damaging	Het
Gm9507	A	T	10: 77,647,519 (GRCm39)	C53*	probably null	Het
Irgm2	A	G	11: 58,110,902 (GRCm39)	I198V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	A	C	14: 100,387,162 (GRCm39)		probably null	Het
Lpp	C	T	16: 24,480,451 (GRCm39)	P73L	probably damaging	Het
Lrrc34	G	A	3: 30,696,890 (GRCm39)	H127Y	probably benign	Het
Lyar	T	C	5: 38,382,053 (GRCm39)	S12P	probably damaging	Het
Maml3	A	G	3: 52,011,473 (GRCm39)	I31T	unknown	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Minar2	T	A	18: 59,208,739 (GRCm39)	M129K	probably damaging	Het
Mysm1	A	T	4: 94,840,450 (GRCm39)	N655K	probably benign	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrxn1	A	G	17: 91,395,746 (GRCm39)	W137R	probably benign	Het
Numb	C	T	12: 83,844,118 (GRCm39)		probably null	Het
Obsl1	A	G	1: 75,482,480 (GRCm39)	F130S	probably damaging	Het
Or2h1	T	G	17: 37,404,295 (GRCm39)	Q157P	probably damaging	Het
Or4k47	T	A	2: 111,451,586 (GRCm39)	I278F	probably benign	Het
Pbx4	T	C	8: 70,322,776 (GRCm39)	V294A	probably benign	Het
Pde4dip	A	C	3: 97,664,312 (GRCm39)	L524R	possibly damaging	Het
Plppr1	G	A	4: 49,337,655 (GRCm39)	A319T	probably benign	Het
Ppid	A	T	3: 79,500,925 (GRCm39)	I32F	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Prr27	A	G	5: 87,991,261 (GRCm39)	E291G	probably benign	Het
Psme4	A	T	11: 30,782,615 (GRCm39)	K923N	possibly damaging	Het
Rab25	T	C	3: 88,450,765 (GRCm39)	T45A	probably damaging	Het
Rapgef1	C	T	2: 29,612,239 (GRCm39)	P630S	probably benign	Het
Rasa2	T	C	9: 96,452,821 (GRCm39)	D355G	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rtn4	A	T	11: 29,658,634 (GRCm39)	E929D	probably benign	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Slk	T	G	19: 47,600,428 (GRCm39)	I151S	probably damaging	Het
Spin1	T	A	13: 51,298,506 (GRCm39)	V175D	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tmem151b	G	C	17: 45,856,387 (GRCm39)	P351R	possibly damaging	Het
Tmod1	A	C	4: 46,061,043 (GRCm39)	Y10S	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	T	C	7: 63,858,182 (GRCm39)	Y225H	possibly damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Tyro3	A	G	2: 119,639,298 (GRCm39)	D335G	probably benign	Het
Unc79	C	A	12: 102,977,538 (GRCm39)	Y180*	probably null	Het
Upp1	A	T	11: 9,084,872 (GRCm39)	D197V	possibly damaging	Het
Vmn1r226	T	A	17: 20,908,308 (GRCm39)	M180K	possibly damaging	Het
Vtn	T	A	11: 78,392,724 (GRCm39)	I434N	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp819	A	G	7: 43,265,885 (GRCm39)	T47A	probably benign	Het
Zyg11b	G	A	4: 108,123,127 (GRCm39)	T280I	probably 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
R0306:Prkcsh	UTSW	9	21,917,822 (GRCm39)	splice site	probably benign
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
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'- GCTTTGCCCCTTCAAACTGG -3'
(R):5'- CTGGTGTCATCAGCTCCATGAG -3'

Sequencing Primer
(F):5'- GTCTCCCAGAAACCCAAACATGG -3'
(R):5'- AGGTACTCACAGCGACTGG -3'

Posted On

2014-08-25