Incidental Mutation 'R7617:Ppm1j'
ID 588948
Institutional Source Beutler Lab
Gene Symbol Ppm1j
Ensembl Gene ENSMUSG00000002228
Gene Name protein phosphatase 1J
Synonyms 2310008J22Rik, PP2Czeta, Ppp2cz
MMRRC Submission 045684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7617 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 104688372-104693334 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 104691059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 274 (Y274*)
Ref Sequence ENSEMBL: ENSMUSP00000002298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002298] [ENSMUST00000196817]
AlphaFold Q149T7
Predicted Effect probably null
Transcript: ENSMUST00000002298
AA Change: Y274*
SMART Domains Protein: ENSMUSP00000002298
Gene: ENSMUSG00000002228
AA Change: Y274*

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: ENSMUST00000196817
SMART Domains Protein: ENSMUSP00000142697
Gene: ENSMUSG00000002233

DomainStartEndE-ValueType
RHO 8 181 9.45e-130 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (41/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,102,694 (GRCm39) Y864* probably null Het
Abhd2 T C 7: 78,998,032 (GRCm39) M188T probably benign Het
Adamtsl3 T A 7: 82,206,054 (GRCm39) probably null Het
Ankrd36 G T 11: 5,637,348 (GRCm39) V1306L probably benign Het
Ankrd50 C A 3: 38,538,831 (GRCm39) probably benign Het
Btbd2 T C 10: 80,482,226 (GRCm39) D258G probably damaging Het
Cabin1 C T 10: 75,568,277 (GRCm39) R75K possibly damaging Het
Carmil3 A G 14: 55,735,348 (GRCm39) N507S probably benign Het
Cntn1 A G 15: 92,143,970 (GRCm39) E311G probably damaging Het
Csnk1a1 T C 18: 61,718,387 (GRCm39) M371T unknown Het
Dnah1 A T 14: 31,006,739 (GRCm39) V2192E possibly damaging Het
Entrep3 T A 3: 89,092,278 (GRCm39) I199N probably damaging Het
Grip2 A C 6: 91,742,031 (GRCm39) probably null Het
Gxylt2 G T 6: 100,760,146 (GRCm39) W227L probably damaging Het
Ighv6-5 G T 12: 114,380,626 (GRCm39) probably benign Het
Jak1 T A 4: 101,031,408 (GRCm39) probably null Het
Jakmip1 A G 5: 37,328,345 (GRCm39) D393G possibly damaging Het
Klf10 A T 15: 38,297,080 (GRCm39) V320E probably damaging Het
Krt87 A T 15: 101,336,426 (GRCm39) C76S probably benign Het
Myh1 A G 11: 67,106,701 (GRCm39) D1261G possibly damaging Het
Myo18b A C 5: 112,905,319 (GRCm39) probably null Het
Or4c124 T A 2: 89,155,723 (GRCm39) D267V probably damaging Het
Oxct2a A C 4: 123,217,150 (GRCm39) L77R probably damaging Het
P2rx2 A T 5: 110,489,950 (GRCm39) C172S probably damaging Het
P3h3 A G 6: 124,832,969 (GRCm39) Y195H probably damaging Het
Pex11b T C 3: 96,544,107 (GRCm39) probably null Het
Scn9a A T 2: 66,370,893 (GRCm39) D562E possibly damaging Het
Slc14a2 A G 18: 78,203,156 (GRCm39) V557A probably benign Het
Slc9b2 T C 3: 135,042,221 (GRCm39) I500T probably damaging Het
Sult2a3 C T 7: 13,806,981 (GRCm39) V234I probably benign Het
Tcp10c T G 17: 13,576,100 (GRCm39) L27V probably damaging Het
Tktl2 A G 8: 66,965,651 (GRCm39) D403G probably benign Het
Tmprss13 G A 9: 45,244,858 (GRCm39) W212* probably null Het
Tspoap1 T G 11: 87,654,451 (GRCm39) S244A probably benign Het
Upb1 A C 10: 75,260,368 (GRCm39) T136P probably benign Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Wwp1 T C 4: 19,662,188 (GRCm39) T136A probably benign Het
Zfp354a A G 11: 50,960,751 (GRCm39) T320A probably benign Het
Zfyve16 A G 13: 92,641,070 (GRCm39) Y1225H probably damaging 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
R6695:Ppm1j UTSW 3 104,692,802 (GRCm39) missense probably damaging 1.00
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
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'- ACACTGCCTTTGAGAGCCTG -3'
(R):5'- CCGTGGATATGGCAACCTTTCC -3'

Sequencing Primer
(F):5'- GGAGCTTGGTCCTGTTACCC -3'
(R):5'- GGATATGGCAACCTTTCCTTATATC -3'
Posted On 2019-10-24