Incidental Mutation 'IGL01669:Ppp1r8'
ID103396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r8
Ensembl Gene ENSMUSG00000028882
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 8
SynonymsNIPP1, 6330548N22Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01669
Quality Score
Status
Chromosome4
Chromosomal Location132826929-132843169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132828169 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 246 (E246G)
Ref Sequence ENSEMBL: ENSMUSP00000101539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030702] [ENSMUST00000105919]
Predicted Effect probably benign
Transcript: ENSMUST00000030702
AA Change: E247G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030702
Gene: ENSMUSG00000028882
AA Change: E247G

DomainStartEndE-ValueType
FHA 48 101 3.6e-15 SMART
low complexity region 144 164 N/A INTRINSIC
PDB:3V4Y|H 165 216 7e-29 PDB
low complexity region 239 251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105919
AA Change: E246G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101539
Gene: ENSMUSG00000028882
AA Change: E246G

DomainStartEndE-ValueType
FHA 48 101 7.37e-13 SMART
low complexity region 144 164 N/A INTRINSIC
PDB:3V4Y|H 165 216 7e-29 PDB
low complexity region 238 250 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156777
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for knock-out allele exhibit severe growth retardation and impaired cell proliferation and die between embryonic days 6.5 and 7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 142,343,188 D313E probably damaging Het
Aifm3 A C 16: 17,503,541 K453T probably benign Het
Anks1b T C 10: 90,897,238 probably benign Het
Arfgef1 T C 1: 10,159,615 D1287G probably damaging Het
Bcl3 G A 7: 19,812,491 Q140* probably null Het
Bnipl T G 3: 95,242,734 R316S probably damaging Het
Cacna1i T A 15: 80,391,757 H1916Q probably benign Het
Ccdc171 C T 4: 83,681,195 A749V probably damaging Het
Ceacam18 G A 7: 43,645,515 G333E probably damaging Het
Cul7 G T 17: 46,658,715 M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 T144A probably benign Het
Cyp2c50 A T 19: 40,098,051 H294L probably damaging Het
D430041D05Rik T C 2: 104,254,961 K1081R probably damaging Het
D930020B18Rik A G 10: 121,683,961 K456R probably benign Het
Drd2 A G 9: 49,402,089 N186S possibly damaging Het
Fanci A T 7: 79,449,177 E1306D probably benign Het
Fbxl21 T A 13: 56,527,709 probably benign Het
Galk2 T A 2: 125,887,887 Y63N probably damaging Het
Git2 T C 5: 114,767,105 D97G probably damaging Het
Gm8258 T A 5: 104,776,074 noncoding transcript Het
Irf4 G T 13: 30,757,471 S270I probably damaging Het
Itgb3 C A 11: 104,633,390 probably benign Het
Itpr2 A C 6: 146,180,229 I2299R probably damaging Het
Lig4 T C 8: 9,973,673 I36V probably benign Het
Nedd9 A G 13: 41,338,635 V133A probably damaging Het
Nup133 A C 8: 123,939,130 Y185* probably null Het
Olfr1162 T C 2: 88,049,784 Y280C possibly damaging Het
Olfr623 A T 7: 103,660,987 F88I probably benign Het
Olfr788 A G 10: 129,473,211 H173R probably damaging Het
Pgbd5 T A 8: 124,374,399 T373S possibly damaging Het
Rmnd5b C T 11: 51,627,900 V89M probably damaging Het
Rnf123 T C 9: 108,058,356 I969V probably damaging Het
Ror2 A G 13: 53,111,088 I656T probably damaging Het
Sgsm1 T C 5: 113,263,490 E503G probably benign Het
Smgc T A 15: 91,860,684 S381T possibly damaging Het
Tlr4 T G 4: 66,841,267 F766V possibly damaging Het
Tnc T C 4: 64,000,701 T1162A probably damaging Het
Usp39 A G 6: 72,338,493 V156A probably damaging Het
Zdhhc5 A G 2: 84,691,194 Y352H probably damaging Het
Zfp646 A G 7: 127,878,965 T105A probably benign Het
Other mutations in Ppp1r8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ppp1r8 APN 4 132834681 missense probably damaging 1.00
IGL00897:Ppp1r8 APN 4 132827902 missense probably damaging 0.96
IGL02663:Ppp1r8 APN 4 132833108 missense probably damaging 1.00
R0358:Ppp1r8 UTSW 4 132834728 missense probably damaging 0.99
R1458:Ppp1r8 UTSW 4 132840631 splice site probably benign
R1630:Ppp1r8 UTSW 4 132829437 missense probably benign 0.18
R7883:Ppp1r8 UTSW 4 132834715 missense probably damaging 0.97
R7966:Ppp1r8 UTSW 4 132834715 missense probably damaging 0.97
RF006:Ppp1r8 UTSW 4 132830617 critical splice donor site probably benign
RF028:Ppp1r8 UTSW 4 132830615 critical splice donor site probably benign
Z1177:Ppp1r8 UTSW 4 132843091 missense probably benign 0.25
Posted On2014-01-21