Incidental Mutation 'R6695:Ppm1j'
ID 528528
Institutional Source Beutler Lab
Gene Symbol Ppm1j
Ensembl Gene ENSMUSG00000002228
Gene Name protein phosphatase 1J
Synonyms 2310008J22Rik, PP2Czeta, Ppp2cz
MMRRC Submission 044813-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6695 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 104688372-104693334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104692802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 437 (D437G)
Ref Sequence ENSEMBL: ENSMUSP00000002298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002298] [ENSMUST00000002303] [ENSMUST00000106787] [ENSMUST00000176347] [ENSMUST00000196817] [ENSMUST00000199824]
AlphaFold Q149T7
Predicted Effect probably damaging
Transcript: ENSMUST00000002298
AA Change: D437G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000002298
Gene: ENSMUSG00000002228
AA Change: D437G

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
Predicted Effect probably benign
Transcript: ENSMUST00000199824
SMART Domains Protein: ENSMUSP00000142855
Gene: ENSMUSG00000002233

DomainStartEndE-ValueType
RHO 8 118 1.4e-68 SMART
Meta Mutation Damage Score 0.4004 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,497 (GRCm39) L179H probably benign Het
Cacna1h C A 17: 25,612,714 (GRCm39) A370S probably damaging Het
Cc2d2a A T 5: 43,876,019 (GRCm39) I1053F probably damaging Het
Csmd3 A G 15: 47,721,230 (GRCm39) V1467A probably damaging Het
Cyp4f15 T A 17: 32,911,586 (GRCm39) L156* probably null Het
Dmwd T A 7: 18,814,652 (GRCm39) L434Q probably damaging Het
Dtx4 T A 19: 12,450,599 (GRCm39) R538* probably null Het
Fcgbp T A 7: 27,785,695 (GRCm39) C377* probably null Het
Galntl6 G T 8: 58,880,804 (GRCm39) H116Q probably damaging Het
Herc1 T A 9: 66,391,148 (GRCm39) probably null Het
Hydin T G 8: 111,053,092 (GRCm39) S255A probably benign Het
Knstrn G A 2: 118,644,723 (GRCm39) A48T probably damaging Het
Lonrf2 T C 1: 38,852,470 (GRCm39) D127G probably benign Het
Luzp1 T C 4: 136,272,609 (GRCm39) S12P possibly damaging Het
Man2c1 A T 9: 57,048,875 (GRCm39) H822L probably benign Het
Map3k13 G T 16: 21,741,028 (GRCm39) G785V probably benign Het
Mia2 A G 12: 59,219,366 (GRCm39) H454R probably damaging Het
Mib2 G A 4: 155,745,629 (GRCm39) R61C probably damaging Het
Muc15 A T 2: 110,561,616 (GRCm39) L17F probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nav2 A G 7: 49,114,652 (GRCm39) I879V probably benign Het
Nomo1 T A 7: 45,715,885 (GRCm39) S751T probably benign Het
Or1j10 A T 2: 36,267,117 (GRCm39) S110C probably benign Het
Or5b24 A T 19: 12,912,764 (GRCm39) I221L possibly damaging Het
Or5g27 A G 2: 85,409,793 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,256 (GRCm39) N412S probably benign Het
Plk5 T C 10: 80,196,035 (GRCm39) S235P probably benign Het
Rab11fip1 T C 8: 27,633,262 (GRCm39) E1148G probably damaging Het
Rad9b T C 5: 122,489,754 (GRCm39) N43S probably damaging Het
Rc3h2 A C 2: 37,304,673 (GRCm39) I29S possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spta1 A T 1: 174,071,608 (GRCm39) probably null Het
Stk32c A T 7: 138,702,880 (GRCm39) V53E probably damaging Het
Strc A T 2: 121,207,705 (GRCm39) F555L probably benign Het
Sugct T G 13: 17,497,815 (GRCm39) N286T possibly damaging Het
Swsap1 A T 9: 21,867,971 (GRCm39) probably null Het
Thbs2 T A 17: 14,894,426 (GRCm39) D807V possibly damaging Het
Tnrc6b A G 15: 80,763,974 (GRCm39) D492G probably damaging Het
Tonsl A T 15: 76,514,018 (GRCm39) S1184T possibly damaging Het
Tpp2 T A 1: 44,022,436 (GRCm39) Y945N probably benign Het
Usp54 G T 14: 20,610,937 (GRCm39) A1293D possibly damaging Het
Vps52 A T 17: 34,182,173 (GRCm39) K516* probably null Het
Zbtb17 T A 4: 141,189,110 (GRCm39) V10D probably damaging Het
Zfp607b T C 7: 27,403,464 (GRCm39) V640A probably benign Het
Other mutations in Ppm1j
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01860:Ppm1j APN 3 104,691,408 (GRCm39) missense probably damaging 1.00
IGL03088:Ppm1j APN 3 104,692,725 (GRCm39) nonsense probably null
R0350:Ppm1j UTSW 3 104,690,687 (GRCm39) missense probably benign 0.01
R5042:Ppm1j UTSW 3 104,690,036 (GRCm39) missense probably null 0.67
R5113:Ppm1j UTSW 3 104,691,990 (GRCm39) missense possibly damaging 0.80
R5870:Ppm1j UTSW 3 104,692,811 (GRCm39) missense possibly damaging 0.95
R6145:Ppm1j UTSW 3 104,688,695 (GRCm39) missense probably damaging 0.99
R6221:Ppm1j UTSW 3 104,693,092 (GRCm39) missense possibly damaging 0.95
R6458:Ppm1j UTSW 3 104,688,560 (GRCm39) missense probably benign
R7084:Ppm1j UTSW 3 104,692,276 (GRCm39) missense probably damaging 0.99
R7323:Ppm1j UTSW 3 104,691,429 (GRCm39) missense probably damaging 1.00
R7617:Ppm1j UTSW 3 104,691,059 (GRCm39) nonsense probably null
R9301:Ppm1j UTSW 3 104,691,057 (GRCm39) missense probably damaging 1.00
R9513:Ppm1j UTSW 3 104,693,134 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGTGAGCACACCTTCTTTC -3'
(R):5'- ACCTGCCAGGAGTACATGTG -3'

Sequencing Primer
(F):5'- AGTGAGCACACCTTCTTTCCTTTTAG -3'
(R):5'- TACGTATATGAGAAGACAGATACACG -3'
Posted On 2018-07-24