Incidental Mutation 'IGL01669:Ppp1r8'
ID 103396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r8
Ensembl Gene ENSMUSG00000028882
Gene Name protein phosphatase 1, regulatory subunit 8
Synonyms 6330548N22Rik, NIPP1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01669
Quality Score
Status
Chromosome 4
Chromosomal Location 132554240-132570480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132555480 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R3G1
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: 141,126,184 (GRCm39) D313E probably damaging Het
Aifm3 A C 16: 17,321,405 (GRCm39) K453T probably benign Het
Anks1b T C 10: 90,733,100 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,229,840 (GRCm39) D1287G probably damaging Het
Bcl3 G A 7: 19,546,416 (GRCm39) Q140* probably null Het
Bnipl T G 3: 95,150,045 (GRCm39) R316S probably damaging Het
Cacna1i T A 15: 80,275,958 (GRCm39) H1916Q probably benign Het
Ccdc171 C T 4: 83,599,432 (GRCm39) A749V probably damaging Het
Ceacam18 G A 7: 43,294,939 (GRCm39) G333E probably damaging Het
Cul7 G T 17: 46,969,641 (GRCm39) M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 (GRCm39) T144A probably benign Het
Cyp2c50 A T 19: 40,086,495 (GRCm39) H294L probably damaging Het
D430041D05Rik T C 2: 104,085,306 (GRCm39) K1081R probably damaging Het
D930020B18Rik A G 10: 121,519,866 (GRCm39) K456R probably benign Het
Drd2 A G 9: 49,313,389 (GRCm39) N186S possibly damaging Het
Fanci A T 7: 79,098,925 (GRCm39) E1306D probably benign Het
Fbxl21 T A 13: 56,675,522 (GRCm39) probably benign Het
Galk2 T A 2: 125,729,807 (GRCm39) Y63N probably damaging Het
Git2 T C 5: 114,905,166 (GRCm39) D97G probably damaging Het
Gm8258 T A 5: 104,923,940 (GRCm39) noncoding transcript Het
Irf4 G T 13: 30,941,454 (GRCm39) S270I probably damaging Het
Itgb3 C A 11: 104,524,216 (GRCm39) probably benign Het
Itpr2 A C 6: 146,081,727 (GRCm39) I2299R probably damaging Het
Lig4 T C 8: 10,023,673 (GRCm39) I36V probably benign Het
Nedd9 A G 13: 41,492,111 (GRCm39) V133A probably damaging Het
Nup133 A C 8: 124,665,869 (GRCm39) Y185* probably null Het
Or51b6b A T 7: 103,310,194 (GRCm39) F88I probably benign Het
Or5d14 T C 2: 87,880,128 (GRCm39) Y280C possibly damaging Het
Or6c3 A G 10: 129,309,080 (GRCm39) H173R probably damaging Het
Pgbd5 T A 8: 125,101,138 (GRCm39) T373S possibly damaging Het
Rmnd5b C T 11: 51,518,727 (GRCm39) V89M probably damaging Het
Rnf123 T C 9: 107,935,555 (GRCm39) I969V probably damaging Het
Ror2 A G 13: 53,265,124 (GRCm39) I656T probably damaging Het
Sgsm1 T C 5: 113,411,356 (GRCm39) E503G probably benign Het
Smgc T A 15: 91,744,882 (GRCm39) S381T possibly damaging Het
Tlr4 T G 4: 66,759,504 (GRCm39) F766V possibly damaging Het
Tnc T C 4: 63,918,938 (GRCm39) T1162A probably damaging Het
Usp39 A G 6: 72,315,476 (GRCm39) V156A probably damaging Het
Zdhhc5 A G 2: 84,521,538 (GRCm39) Y352H probably damaging Het
Zfp646 A G 7: 127,478,137 (GRCm39) T105A probably benign Het
Other mutations in Ppp1r8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ppp1r8 APN 4 132,561,992 (GRCm39) missense probably damaging 1.00
IGL00897:Ppp1r8 APN 4 132,555,213 (GRCm39) missense probably damaging 0.96
IGL02663:Ppp1r8 APN 4 132,560,419 (GRCm39) missense probably damaging 1.00
R0358:Ppp1r8 UTSW 4 132,562,039 (GRCm39) missense probably damaging 0.99
R1458:Ppp1r8 UTSW 4 132,567,942 (GRCm39) splice site probably benign
R1630:Ppp1r8 UTSW 4 132,556,748 (GRCm39) missense probably benign 0.18
R7883:Ppp1r8 UTSW 4 132,562,026 (GRCm39) missense probably damaging 0.97
R8701:Ppp1r8 UTSW 4 132,557,953 (GRCm39) missense possibly damaging 0.53
R9667:Ppp1r8 UTSW 4 132,570,407 (GRCm39) missense probably benign 0.02
RF006:Ppp1r8 UTSW 4 132,557,928 (GRCm39) critical splice donor site probably benign
RF028:Ppp1r8 UTSW 4 132,557,926 (GRCm39) critical splice donor site probably benign
Z1177:Ppp1r8 UTSW 4 132,570,402 (GRCm39) missense probably benign 0.25
Posted On 2014-01-21