Incidental Mutation 'IGL02663:Ppp1r8'
ID302630
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 #IGL02663
Quality Score
Status
Chromosome4
Chromosomal Location132826929-132843169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 132833108 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 94 (T94I)
Ref Sequence ENSEMBL: ENSMUSP00000101539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030702] [ENSMUST00000105919]
Predicted Effect probably damaging
Transcript: ENSMUST00000030702
AA Change: T94I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030702
Gene: ENSMUSG00000028882
AA Change: T94I

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: T94I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101539
Gene: ENSMUSG00000028882
AA Change: T94I

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A C 3: 97,205,332 F1269C probably damaging Het
Cdc20b T A 13: 113,056,131 probably null Het
Chrna1 A G 2: 73,574,316 probably benign Het
Creb5 A G 6: 53,680,961 H236R probably damaging Het
Cyp17a1 A G 19: 46,672,566 F93S probably damaging Het
Cyp4a32 T A 4: 115,610,590 L257H probably damaging Het
Fahd1 C T 17: 24,849,504 G200R probably damaging Het
Ifit1 A G 19: 34,640,980 probably benign Het
Mfhas1 G T 8: 35,589,906 V512L probably damaging Het
Myh13 C T 11: 67,354,927 Q1095* probably null Het
Nfia A G 4: 98,041,619 T339A probably benign Het
Npas3 T C 12: 54,068,908 L840P probably damaging Het
Nsf T C 11: 103,930,815 T2A probably benign Het
Olfr116 A T 17: 37,624,044 I197K probably benign Het
Olfr1465 A G 19: 13,313,379 V302A probably benign Het
Olfr740 A G 14: 50,453,852 T267A probably benign Het
P2rx2 G T 5: 110,340,186 probably null Het
P2rx2 C T 5: 110,340,249 E480K possibly damaging Het
S100a11 A T 3: 93,524,157 E33D probably damaging Het
Sec31b C A 19: 44,534,278 A92S probably damaging Het
Serpina3g C T 12: 104,239,140 T46I possibly damaging Het
Sgo2b A T 8: 63,943,114 I36N probably damaging Het
Slc35e1 A G 8: 72,488,209 L223P probably damaging Het
St14 T C 9: 31,100,382 probably null Het
Sult2a8 A G 7: 14,425,443 Y84H possibly damaging Het
Tas1r2 T C 4: 139,660,282 Y322H probably benign Het
Tmem59 T C 4: 107,197,541 L181P probably damaging Het
Trp73 A G 4: 154,062,506 probably null Het
Ube2h A G 6: 30,241,413 V86A probably damaging Het
Vmn2r22 A T 6: 123,649,158 H106Q probably benign Het
Wdr63 A T 3: 146,054,557 M692K possibly damaging Het
Xirp2 T C 2: 67,509,458 V681A possibly damaging 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
IGL01669:Ppp1r8 APN 4 132828169 missense probably benign 0.02
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 On2015-04-16