Incidental Mutation 'IGL00340:Ppp1r8'
ID6562
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 #IGL00340
Quality Score
Status
Chromosome4
Chromosomal Location132826929-132843169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132834681 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 76 (Y76C)
Ref Sequence ENSEMBL: ENSMUSP00000101539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030702] [ENSMUST00000105919]
Predicted Effect probably damaging
Transcript: ENSMUST00000030702
AA Change: Y76C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030702
Gene: ENSMUSG00000028882
AA Change: Y76C

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 damaging
Transcript: ENSMUST00000105919
AA Change: Y76C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101539
Gene: ENSMUSG00000028882
AA Change: Y76C

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: ENSMUST00000148228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158365
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G T 2: 111,220,762 L230I probably damaging Het
Adamts3 G A 5: 89,701,666 H632Y probably damaging Het
Adgre5 T A 8: 83,728,401 M221L probably benign Het
Apba2 A T 7: 64,736,941 I439F possibly damaging Het
Arid1b C A 17: 5,321,284 N632K probably damaging Het
Bcas3 A T 11: 85,365,591 I60L probably damaging Het
Brd9 T C 13: 73,938,547 S56P probably damaging Het
Ccdc57 T A 11: 120,860,469 D925V possibly damaging Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Cdhr3 T C 12: 33,052,209 T410A probably benign Het
Ddx60 G T 8: 61,958,646 D511Y probably damaging Het
Drc7 C A 8: 95,056,001 probably benign Het
Dysf A G 6: 84,141,951 E1290G probably benign Het
Fam168b T C 1: 34,836,802 M1V probably null Het
Farsa A G 8: 84,864,257 K208R probably damaging Het
Fnip2 A G 3: 79,518,061 probably benign Het
Gm17535 A T 9: 3,035,111 H170L probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm5852 T C 3: 93,727,194 noncoding transcript Het
Gnb2 T C 5: 137,530,706 probably benign Het
Gpr158 A G 2: 21,368,683 N143S probably damaging Het
Hcn1 C A 13: 117,602,977 Q92K unknown Het
Helb T C 10: 120,098,245 I678V possibly damaging Het
Hnrnpl C A 7: 28,813,373 A118D probably damaging Het
Klhl14 G A 18: 21,651,864 P169S probably benign Het
Kndc1 T C 7: 139,901,988 probably benign Het
Lmod2 A G 6: 24,598,052 E57G probably damaging Het
Lrch4 T C 5: 137,637,747 I300T possibly damaging Het
Lrp6 A G 6: 134,456,090 V1426A probably benign Het
Lrrc39 A G 3: 116,570,981 probably benign Het
Mamstr G A 7: 45,644,285 V262I probably benign Het
Mob1b A T 5: 88,756,155 T217S probably benign Het
Mocs3 G A 2: 168,231,491 R286H possibly damaging Het
Mpo A T 11: 87,802,617 Q27L probably benign Het
Ncdn A T 4: 126,747,188 D506E probably benign Het
Noxa1 A G 2: 25,094,902 I8T probably benign Het
Olfr46 T A 7: 140,610,753 S196T probably damaging Het
Olfr514 C T 7: 108,825,073 V309I probably benign Het
Olfr878 A G 9: 37,919,050 Y131C probably damaging Het
Oma1 G T 4: 103,319,368 A110S probably benign Het
Pde4a A C 9: 21,211,061 K694T probably benign Het
Phc1 A G 6: 122,322,999 probably benign Het
Pias1 A G 9: 62,923,296 V187A probably damaging Het
Pifo A G 3: 106,014,508 V33A probably benign Het
Pigf C A 17: 87,020,448 L130F probably null Het
Pkd1 G T 17: 24,580,095 V2763L probably damaging Het
Ppp6r3 C A 19: 3,518,324 G158V probably damaging Het
Ptpn13 A G 5: 103,551,058 I1136V probably damaging Het
Ptprq T C 10: 107,576,929 I1770V probably damaging Het
Rhpn2 A T 7: 35,370,760 I148F probably damaging Het
Stard3 T C 11: 98,377,459 Y239H probably damaging Het
Stau1 T C 2: 166,950,809 Y412C probably benign Het
Sucnr1 A G 3: 60,086,632 I194V probably benign Het
Tanc1 A G 2: 59,790,841 T335A possibly damaging Het
Tmem126a T C 7: 90,452,755 T79A probably benign Het
Trav9-2 A T 14: 53,591,383 Y70F probably benign Het
Tspear A G 10: 77,873,236 E432G probably benign Het
Ube2o T C 11: 116,544,754 R403G probably benign Het
Unc80 C A 1: 66,606,459 S1431R possibly damaging Het
Usp24 G A 4: 106,401,139 C1578Y probably damaging Het
Vsig10 A T 5: 117,351,587 M473L probably benign Het
Xpot T A 10: 121,605,644 M559L probably benign Het
Other mutations in Ppp1r8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Ppp1r8 APN 4 132827902 missense probably damaging 0.96
IGL01669:Ppp1r8 APN 4 132828169 missense probably benign 0.02
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
Posted On2012-04-20