Incidental Mutation 'IGL01870:Pptc7'
ID 178691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pptc7
Ensembl Gene ENSMUSG00000038582
Gene Name PTC7 protein phosphatase homolog
Synonyms 9130017A15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # IGL01870
Quality Score
Status
Chromosome 5
Chromosomal Location 122422461-122462344 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122451665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 40 (S40R)
Ref Sequence ENSEMBL: ENSMUSP00000113194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053426] [ENSMUST00000119015]
AlphaFold Q6NVE9
Predicted Effect probably damaging
Transcript: ENSMUST00000053426
AA Change: S143R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051838
Gene: ENSMUSG00000038582
AA Change: S143R

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
PP2Cc 44 303 1.88e-5 SMART
PP2C_SIG 66 305 4.6e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119015
AA Change: S40R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113194
Gene: ENSMUSG00000038582
AA Change: S40R

DomainStartEndE-ValueType
PP2C_SIG 9 202 1.91e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A G 13: 30,565,310 (GRCm39) D125G probably damaging Het
Arhgap31 T C 16: 38,438,604 (GRCm39) K300E probably damaging Het
Cma2 C A 14: 56,211,194 (GRCm39) S162Y probably benign Het
Cntn4 A G 6: 106,466,676 (GRCm39) T193A possibly damaging Het
Col22a1 T A 15: 71,824,377 (GRCm39) M556L probably benign Het
Dld A G 12: 31,385,466 (GRCm39) S292P possibly damaging Het
Dnah6 A T 6: 73,009,552 (GRCm39) D3746E probably benign Het
Eea1 A G 10: 95,809,848 (GRCm39) T9A probably damaging Het
Eeig1 T C 2: 32,456,294 (GRCm39) S319P probably benign Het
Gbf1 A G 19: 46,274,108 (GRCm39) K1714R probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
H2-M1 A T 17: 36,980,955 (GRCm39) M327K probably benign Het
Ifnz T A 4: 88,701,548 (GRCm39) S176T possibly damaging Het
Irak4 T C 15: 94,445,751 (GRCm39) Y10H probably benign Het
Irx5 T C 8: 93,086,405 (GRCm39) F163L probably damaging Het
Jak3 C T 8: 72,133,434 (GRCm39) P376S probably damaging Het
Lrrc25 T C 8: 71,070,437 (GRCm39) S73P possibly damaging Het
Macf1 C T 4: 123,367,906 (GRCm39) G2285D probably damaging Het
Muc4 A T 16: 32,574,624 (GRCm39) T1025S probably benign Het
Mylk2 A G 2: 152,757,134 (GRCm39) N303S probably benign Het
Or5v1b G A 17: 37,841,555 (GRCm39) R229H probably benign Het
Pcnx1 T C 12: 82,022,667 (GRCm39) V1512A probably benign Het
Phlda3 A G 1: 135,694,376 (GRCm39) S64G probably benign Het
Pramel19 T A 4: 101,797,887 (GRCm39) L95H probably benign Het
Ptpn4 A C 1: 119,603,277 (GRCm39) probably null Het
Slc10a1 T C 12: 81,007,302 (GRCm39) M160V probably benign Het
Stac T C 9: 111,401,400 (GRCm39) I349V probably benign Het
Synm A G 7: 67,385,866 (GRCm39) S157P possibly damaging Het
Tbc1d9b T C 11: 50,052,915 (GRCm39) L924P probably damaging Het
Tcaf2 C T 6: 42,601,411 (GRCm39) V883I possibly damaging Het
Upp1 T C 11: 9,075,700 (GRCm39) probably null Het
Whamm C T 7: 81,245,722 (GRCm39) T726I probably damaging Het
Other mutations in Pptc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02606:Pptc7 APN 5 122,451,651 (GRCm39) splice site probably benign
R0632:Pptc7 UTSW 5 122,451,654 (GRCm39) splice site probably benign
R1829:Pptc7 UTSW 5 122,451,679 (GRCm39) missense probably damaging 1.00
R4899:Pptc7 UTSW 5 122,422,780 (GRCm39) missense possibly damaging 0.51
R5110:Pptc7 UTSW 5 122,446,312 (GRCm39) missense probably benign 0.03
R5119:Pptc7 UTSW 5 122,451,844 (GRCm39) missense possibly damaging 0.92
R5600:Pptc7 UTSW 5 122,458,918 (GRCm39) missense probably damaging 1.00
R7214:Pptc7 UTSW 5 122,451,840 (GRCm39) missense probably benign 0.01
R7497:Pptc7 UTSW 5 122,422,942 (GRCm39) missense possibly damaging 0.51
R7513:Pptc7 UTSW 5 122,446,192 (GRCm39) critical splice acceptor site probably null
R8175:Pptc7 UTSW 5 122,457,882 (GRCm39) missense probably benign 0.42
Posted On 2014-05-07