Mutagenetix > Incidental Mutation

Incidental Mutation 'R1981:Prkcsh'

222334

Institutional Source

Beutler Lab

Gene Symbol

Prkcsh

Ensembl Gene

ENSMUSG00000003402

Gene Name

protein kinase C substrate 80K-H

Synonyms

80K-H, hepatocystin

MMRRC Submission

039993-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1981 (G1)

Quality Score

211

Status

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks1	T	C	17: 28,204,095 (GRCm39)	V181A	probably damaging	Het
Aqp4	T	C	18: 15,526,608 (GRCm39)	D291G	probably damaging	Het
Atad1	G	T	19: 32,673,210 (GRCm39)	D224E	probably benign	Het
Atp1a3	T	G	7: 24,700,400 (GRCm39)	E33A	probably benign	Het
Baz2b	A	G	2: 59,754,024 (GRCm39)	F1100L	possibly damaging	Het
Car7	C	T	8: 105,275,009 (GRCm39)		probably benign	Het
Casp8	C	A	1: 58,868,121 (GRCm39)		probably null	Het
Cdh23	A	T	10: 60,214,530 (GRCm39)	L1495H	probably damaging	Het
Ceacam9	T	G	7: 16,459,232 (GRCm39)	L177R	probably benign	Het
Col16a1	C	G	4: 129,959,236 (GRCm39)	P346A	unknown	Het
Cyp2c29	A	G	19: 39,296,216 (GRCm39)		probably null	Het
Cyp3a13	T	C	5: 137,910,118 (GRCm39)	S139G	probably damaging	Het
Dapk2	A	G	9: 66,176,180 (GRCm39)	H327R	probably benign	Het
Ddx19b	T	C	8: 111,735,975 (GRCm39)	T357A	possibly damaging	Het
Dnah2	A	G	11: 69,365,151 (GRCm39)	Y1944H	probably damaging	Het
Dnai2	T	A	11: 114,623,755 (GRCm39)	V6E	probably damaging	Het
Eipr1	T	C	12: 28,913,024 (GRCm39)	Y242H	probably damaging	Het
Fam149a	T	G	8: 45,834,778 (GRCm39)	D7A	probably damaging	Het
Fam217a	T	A	13: 35,100,737 (GRCm39)	D140V	probably benign	Het
Fat4	G	A	3: 39,045,813 (GRCm39)	C3944Y	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Gcsam	A	T	16: 45,440,337 (GRCm39)	T127S	probably damaging	Het
Git2	C	T	5: 114,887,620 (GRCm39)		probably benign	Het
Gm1527	T	C	3: 28,969,984 (GRCm39)		probably null	Het
Gtf3c1	A	G	7: 125,243,444 (GRCm39)	L1720P	possibly damaging	Het
H2-T9	T	A	17: 36,439,614 (GRCm39)	D122V	probably damaging	Het
Hat1	A	G	2: 71,220,321 (GRCm39)	T28A	probably benign	Het
Igf2r	G	A	17: 12,952,790 (GRCm39)	Q219*	probably null	Het
Impdh1	T	A	6: 29,206,450 (GRCm39)	D129V	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Ltbp3	A	G	19: 5,808,107 (GRCm39)	Q1250R	probably benign	Het
Mansc4	T	A	6: 146,977,173 (GRCm39)	I148F	probably benign	Het
Mast2	T	C	4: 116,172,037 (GRCm39)	Y569C	probably damaging	Het
Mcoln3	A	T	3: 145,846,345 (GRCm39)	K552*	probably null	Het
Mctp2	T	C	7: 71,814,446 (GRCm39)	Q601R	probably benign	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Myo19	A	T	11: 84,782,996 (GRCm39)	Q170L	possibly damaging	Het
Myo1h	T	C	5: 114,491,898 (GRCm39)	F676S	probably damaging	Het
Myo9a	A	G	9: 59,801,429 (GRCm39)	T1876A	probably benign	Het
Nav3	G	T	10: 109,554,951 (GRCm39)		probably benign	Het
Ndor1	T	C	2: 25,145,236 (GRCm39)	Y43C	probably damaging	Het
Nlrp1a	A	G	11: 70,989,764 (GRCm39)	V1102A	probably damaging	Het
Nmnat3	T	C	9: 98,292,352 (GRCm39)	I199T	possibly damaging	Het
Nsun7	T	C	5: 66,418,557 (GRCm39)	S96P	probably damaging	Het
Ntng1	A	G	3: 109,842,326 (GRCm39)	V149A	possibly damaging	Het
Oas3	T	C	5: 120,899,900 (GRCm39)		probably benign	Het
Or10v9	T	G	19: 11,832,371 (GRCm39)	Q315H	possibly damaging	Het
Or4k47	T	A	2: 111,451,586 (GRCm39)	I278F	probably benign	Het
Or5bw2	A	G	7: 6,573,557 (GRCm39)	D189G	probably benign	Het
Or6z7	T	C	7: 6,483,931 (GRCm39)	M75V	probably benign	Het
Or8b3	T	C	9: 38,315,031 (GRCm39)	L287P	probably damaging	Het
Or8k53	A	T	2: 86,177,486 (GRCm39)	I208N	possibly damaging	Het
Pax2	G	A	19: 44,806,904 (GRCm39)	D301N	probably damaging	Het
Pcsk4	T	A	10: 80,161,613 (GRCm39)	E176V	probably damaging	Het
Pkhd1	G	A	1: 20,187,284 (GRCm39)	P3675S	probably benign	Het
Plekho2	A	T	9: 65,465,974 (GRCm39)	L138Q	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Prr11	T	A	11: 86,994,116 (GRCm39)	D100V	probably damaging	Het
Qars1	A	G	9: 108,392,227 (GRCm39)	N136D	probably damaging	Het
Rbm15b	A	G	9: 106,758,822 (GRCm39)		probably benign	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rsrc1	A	G	3: 67,257,338 (GRCm39)	D250G	probably benign	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Scn2a	C	A	2: 65,520,514 (GRCm39)	N503K	probably damaging	Het
Sh2d6	G	A	6: 72,494,527 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,976,157 (GRCm39)	T475A	probably benign	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Tbx20	T	A	9: 24,682,209 (GRCm39)	K48N	possibly damaging	Het
Tead1	C	A	7: 112,490,952 (GRCm39)	D231E	probably benign	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tjp1	A	T	7: 64,962,603 (GRCm39)	F1111L	probably damaging	Het
Tlr11	T	A	14: 50,599,445 (GRCm39)	I477K	possibly damaging	Het
Ttc13	A	G	8: 125,440,926 (GRCm39)		probably null	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Usp15	T	A	10: 122,960,946 (GRCm39)		probably benign	Het
Usp18	A	G	6: 121,229,476 (GRCm39)	K32E	probably benign	Het
Vmn1r12	A	T	6: 57,136,646 (GRCm39)	M248L	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp930	T	A	8: 69,680,824 (GRCm39)	L172H	probably damaging	Het
Zfp976	G	A	7: 42,263,046 (GRCm39)	H264Y	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
R1980: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'- TTAGGTACGTCTACCGGCTTTG -3'
(R):5'- GTCATCAGCTCCATGAGGTAC -3'

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

Posted On

2014-08-25