Incidental Mutation 'R5059:Prkcsh'
ID 386522
Institutional Source Beutler Lab
Gene Symbol Prkcsh
Ensembl Gene ENSMUSG00000003402
Gene Name protein kinase C substrate 80K-H
Synonyms 80K-H, hepatocystin
MMRRC Submission 042649-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5059 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 21914284-21925541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21924046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 439 (L439Q)
Ref Sequence ENSEMBL: ENSMUSP00000149936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003493] [ENSMUST00000003501] [ENSMUST00000115331] [ENSMUST00000216344]
AlphaFold O08795
Predicted Effect probably damaging
Transcript: ENSMUST00000003493
AA Change: L439Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003493
Gene: ENSMUSG00000003402
AA Change: L439Q

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: L446Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110987
Gene: ENSMUSG00000003402
AA Change: L446Q

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000216344
AA Change: L439Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T A 8: 43,973,637 (GRCm39) N455I probably damaging Het
Alg12 A G 15: 88,695,659 (GRCm39) F279S probably damaging Het
Angpt4 A G 2: 151,776,360 (GRCm39) D296G probably damaging Het
Ank1 T A 8: 23,586,204 (GRCm39) S437T probably damaging Het
Apol7a G A 15: 77,274,012 (GRCm39) probably benign Het
Arhgef38 T A 3: 132,843,175 (GRCm39) Y465F probably damaging Het
Atp8a2 T G 14: 59,928,986 (GRCm39) T1023P probably benign Het
Cdh20 C A 1: 109,993,430 (GRCm39) A295E probably damaging Het
Cela3b T C 4: 137,152,181 (GRCm39) E92G probably benign Het
Cntnap5a T C 1: 116,356,224 (GRCm39) S752P probably benign Het
Dlx2 T C 2: 71,376,585 (GRCm39) H51R probably damaging Het
Dnm2 T C 9: 21,415,874 (GRCm39) I736T probably damaging Het
Dst A G 1: 34,202,427 (GRCm39) T252A possibly damaging Het
Fbxo40 T C 16: 36,790,658 (GRCm39) R151G possibly damaging Het
Gapdhs C T 7: 30,431,410 (GRCm39) A357T probably benign Het
Gon4l T A 3: 88,807,319 (GRCm39) M1671K probably benign Het
Gpi1 T C 7: 33,907,113 (GRCm39) Y327C probably damaging Het
Gucy2g T C 19: 55,214,503 (GRCm39) R542G probably benign Het
Hectd3 A G 4: 116,854,361 (GRCm39) K308E possibly damaging Het
Hip1 A G 5: 135,478,675 (GRCm39) F178S probably damaging Het
Hydin A G 8: 111,232,401 (GRCm39) D1640G probably damaging Het
Il18r1 G A 1: 40,520,227 (GRCm39) probably null Het
Kdm3b T C 18: 34,910,250 (GRCm39) S23P possibly damaging Het
Lactb T C 9: 66,882,426 (GRCm39) E83G probably benign Het
Larp4 A T 15: 99,903,171 (GRCm39) D414V probably damaging Het
Map2k5 T C 9: 63,164,296 (GRCm39) H336R probably benign Het
Mast4 T C 13: 102,887,071 (GRCm39) E1006G probably damaging Het
Mbd5 T C 2: 49,146,467 (GRCm39) S226P probably damaging Het
Micall1 A T 15: 79,007,034 (GRCm39) probably benign Het
Mtpap T A 18: 4,375,827 (GRCm39) probably benign Het
Or52ae7 A T 7: 103,119,488 (GRCm39) K81* probably null Het
Or5p58 A G 7: 107,694,522 (GRCm39) L85P probably damaging Het
Pnrc1 G A 4: 33,246,072 (GRCm39) Q296* probably null Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Pramel28 A G 4: 143,691,565 (GRCm39) V386A probably damaging Het
Prkdc T C 16: 15,655,882 (GRCm39) L3970P probably damaging Het
Ptcd1 G A 5: 145,089,034 (GRCm39) P542L probably benign Het
Rps6ka5 G A 12: 100,520,634 (GRCm39) T631I probably damaging Het
Rxfp1 T C 3: 79,570,619 (GRCm39) N271S probably benign Het
Taf6 A G 5: 138,177,709 (GRCm39) M541T probably benign Het
Tek T A 4: 94,692,551 (GRCm39) C169S probably benign Het
Tgfbr3l T A 8: 4,299,343 (GRCm39) probably null Het
Trpv3 A G 11: 73,186,149 (GRCm39) N647D probably benign Het
Ube3c A G 5: 29,836,293 (GRCm39) K638R probably null Het
Vmn1r191 G A 13: 22,363,163 (GRCm39) A197V probably damaging Het
Vmn2r6 T C 3: 64,445,044 (GRCm39) T894A possibly damaging Het
Vstm4 T G 14: 32,585,687 (GRCm39) Y85D probably damaging Het
Wnt7a A G 6: 91,371,482 (GRCm39) I160T probably benign Het
Zc3h7a TAGAGAG TAGAGAGAG 16: 10,978,985 (GRCm39) probably null Het
Zfp988 A T 4: 147,416,372 (GRCm39) K269* probably null Het
Other mutations in Prkcsh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AACCTACAGCTTGTATCTGCG -3'
(R):5'- TAGGCACTCACTGTGGTGGATC -3'

Sequencing Primer
(F):5'- GGCCAACTTCAGCATATGTG -3'
(R):5'- ACTCACTGTGGTGGATCGGTTG -3'
Posted On 2016-06-06