Incidental Mutation 'IGL01860:Ppm1j'
ID178279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1j
Ensembl Gene ENSMUSG00000002228
Gene Nameprotein phosphatase 1J
Synonyms2310008J22Rik, Ppp2cz, PP2Czeta
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01860
Quality Score
Status
Chromosome3
Chromosomal Location104781056-104786018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104784092 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 299 (T299A)
Ref Sequence ENSEMBL: ENSMUSP00000002298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002298] [ENSMUST00000002303] [ENSMUST00000106787] [ENSMUST00000176347] [ENSMUST00000196817]
Predicted Effect probably damaging
Transcript: ENSMUST00000002298
AA Change: T299A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002298
Gene: ENSMUSG00000002228
AA Change: T299A

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
PP2Cc 93 497 1.44e-32 SMART
PP2C_SIG 119 499 1.51e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000002303
SMART Domains Protein: ENSMUSP00000002303
Gene: ENSMUSG00000002233

DomainStartEndE-ValueType
RHO 8 181 9.45e-130 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106787
SMART Domains Protein: ENSMUSP00000102399
Gene: ENSMUSG00000002233

DomainStartEndE-ValueType
RHO 8 181 9.45e-130 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162644
Predicted Effect probably benign
Transcript: ENSMUST00000176347
SMART Domains Protein: ENSMUSP00000135659
Gene: ENSMUSG00000002233

DomainStartEndE-ValueType
RHO 8 148 7.45e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196817
SMART Domains Protein: ENSMUSP00000142697
Gene: ENSMUSG00000002233

DomainStartEndE-ValueType
RHO 8 181 9.45e-130 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197264
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 encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,416 N248Y possibly damaging Het
Adamts13 G A 2: 26,978,011 V128M probably damaging Het
Agl A T 3: 116,772,526 probably benign Het
Arfgef1 A T 1: 10,154,396 M1405K probably damaging Het
Atp6v1a G T 16: 44,099,956 L426M probably damaging Het
Cdc123 A G 2: 5,803,941 probably benign Het
Cept1 A G 3: 106,531,128 probably benign Het
Cipc T A 12: 86,960,273 D60E probably damaging Het
Exosc3 A G 4: 45,319,659 I121T probably benign Het
Fam155a A T 8: 9,207,831 V439E probably damaging Het
Fam26f A G 10: 34,126,565 V174A probably damaging Het
Fbln5 A G 12: 101,809,869 Y89H probably damaging Het
Fhod3 T A 18: 24,903,948 I154N probably damaging Het
Fhod3 T C 18: 24,897,681 F128L probably damaging Het
Fpgt T C 3: 155,086,846 T515A probably benign Het
Gas2l2 G A 11: 83,422,080 T802I probably benign Het
Gm10424 G A 5: 95,270,651 T162I probably benign Het
Gm10710 T A 3: 83,127,849 probably benign Het
Gm11639 T C 11: 104,690,921 S30P probably benign Het
Hdac4 A G 1: 91,933,695 M1051T probably benign Het
Heatr5b A G 17: 78,808,480 V849A probably damaging Het
Helb T C 10: 120,102,833 I579V probably damaging Het
Hspa1l A G 17: 34,978,811 I609V probably benign Het
Itgam C A 7: 128,070,943 Q136K probably benign Het
Kcnc1 T C 7: 46,428,130 L452P probably damaging Het
Ltbp4 T A 7: 27,319,646 T1083S probably damaging Het
Mki67 T C 7: 135,698,957 I1449M probably damaging Het
Mpp5 T C 12: 78,830,907 V531A possibly damaging Het
P2rx5 T A 11: 73,165,559 V103E probably damaging Het
Pappa A G 4: 65,205,092 D888G possibly damaging Het
Pcdhb21 G T 18: 37,514,905 M362I probably benign Het
Pde1a A G 2: 79,875,284 S333P probably damaging Het
Ptdss2 A G 7: 141,152,836 E168G probably damaging Het
Rspry1 A G 8: 94,649,816 N322S probably benign Het
Slc7a9 T A 7: 35,457,060 V309E probably damaging Het
Slco6c1 A G 1: 97,075,823 probably benign Het
Tas2r120 T A 6: 132,657,264 M103K probably damaging Het
Tbxas1 T A 6: 38,948,627 F59I probably damaging Het
Tfpi A G 2: 84,444,034 S203P probably benign Het
Tram2 T C 1: 21,003,859 N285S possibly damaging Het
Trio T A 15: 27,846,810 D980V probably damaging Het
Trpv5 T A 6: 41,660,295 H419L probably damaging Het
Usp28 C T 9: 49,032,243 R361* probably null Het
Vmn1r6 T A 6: 57,002,689 L112* probably null Het
Vmn2r12 A T 5: 109,092,159 N179K probably benign Het
Vmn2r82 G T 10: 79,378,857 A225S probably benign Het
Zcchc4 A G 5: 52,808,356 Y334C probably damaging Het
Zfp609 T C 9: 65,702,834 E949G possibly damaging Het
Other mutations in Ppm1j
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Ppm1j APN 3 104785409 nonsense probably null
R0350:Ppm1j UTSW 3 104783371 missense probably benign 0.01
R5042:Ppm1j UTSW 3 104782720 missense probably null 0.67
R5113:Ppm1j UTSW 3 104784674 missense possibly damaging 0.80
R5870:Ppm1j UTSW 3 104785495 missense possibly damaging 0.95
R6145:Ppm1j UTSW 3 104781379 missense probably damaging 0.99
R6221:Ppm1j UTSW 3 104785776 missense possibly damaging 0.95
R6458:Ppm1j UTSW 3 104781244 missense probably benign
R6695:Ppm1j UTSW 3 104785486 missense probably damaging 1.00
R7084:Ppm1j UTSW 3 104784960 missense probably damaging 0.99
R7323:Ppm1j UTSW 3 104784113 missense probably damaging 1.00
R7617:Ppm1j UTSW 3 104783743 nonsense probably null
Posted On2014-05-07