Incidental Mutation 'R5110:Pptc7'
ID393793
Institutional Source Beutler Lab
Gene Symbol Pptc7
Ensembl Gene ENSMUSG00000038582
Gene NamePTC7 protein phosphatase homolog
Synonyms
MMRRC Submission 042698-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.238) question?
Stock #R5110 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location122284365-122324281 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122308249 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 17 (N17K)
Ref Sequence ENSEMBL: ENSMUSP00000113194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053426] [ENSMUST00000119015]
Predicted Effect probably benign
Transcript: ENSMUST00000053426
AA Change: N120K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000051838
Gene: ENSMUSG00000038582
AA Change: N120K

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 benign
Transcript: ENSMUST00000119015
AA Change: N17K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113194
Gene: ENSMUSG00000038582
AA Change: N17K

DomainStartEndE-ValueType
PP2C_SIG 9 202 1.91e-1 SMART
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,295,357 probably null Het
2310016G11Rik G A 7: 44,677,862 noncoding transcript Het
Abi2 G A 1: 60,450,121 V98I probably benign Het
Adam21 T C 12: 81,560,215 T258A probably benign Het
Adam33 A T 2: 131,053,770 C542S probably damaging Het
Adamts15 A G 9: 30,921,444 V265A probably benign Het
Ahnak A T 19: 9,014,759 D4469V probably damaging Het
Aicda A G 6: 122,561,185 N101D probably benign Het
Als2 A T 1: 59,185,441 D1040E probably damaging Het
Car15 T C 16: 17,835,347 R319G possibly damaging Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Col1a1 T C 11: 94,941,593 probably null Het
Col25a1 A G 3: 130,584,725 *594W probably null Het
Cwf19l2 A G 9: 3,450,012 probably null Het
Dctn4 C T 18: 60,546,315 P236S probably damaging Het
Ehmt1 C A 2: 24,852,790 C459F probably benign Het
Enox1 T C 14: 77,707,687 probably null Het
Fam136b-ps A G 15: 31,276,710 probably benign Het
Fzd1 T C 5: 4,756,448 D378G probably benign Het
Golga5 G A 12: 102,472,077 R17Q probably benign Het
Hk1 A T 10: 62,286,651 Y422N probably damaging Het
Hsf4 A G 8: 105,272,795 D255G probably benign Het
Ift81 A G 5: 122,551,058 V665A probably benign Het
Igkv13-84 T C 6: 68,939,608 F3L probably benign Het
Kcnh1 T A 1: 192,337,747 S433R possibly damaging Het
Ktn1 A G 14: 47,704,287 probably benign Het
Lrp4 A T 2: 91,497,072 D1471V possibly damaging Het
Macf1 A T 4: 123,368,008 D6990E probably damaging Het
Map3k6 G A 4: 133,247,548 probably benign Het
Miox T A 15: 89,335,556 D82E probably benign Het
Olfr722 T G 14: 49,895,575 I76L possibly damaging Het
Ovgp1 G C 3: 105,977,783 R133P probably damaging Het
Per2 G A 1: 91,429,515 T642I possibly damaging Het
Pparg T C 6: 115,473,003 V321A probably damaging Het
Prpf19 T C 19: 10,899,287 probably benign Het
Rai14 T C 15: 10,690,410 probably benign Het
Sardh T C 2: 27,189,547 D911G probably benign Het
Sbf2 T A 7: 110,364,657 T994S probably benign Het
Slc1a1 G A 19: 28,911,808 E494K probably benign Het
Smarcc1 A G 9: 110,197,784 K771E possibly damaging Het
St5 A G 7: 109,542,490 S556P probably benign Het
Stim1 T C 7: 102,268,422 V3A unknown Het
Syne3 G A 12: 104,943,370 R736C probably benign Het
Synj2 T C 17: 6,037,715 V986A probably benign Het
Tinag A G 9: 76,952,007 S440P probably damaging Het
Tshz2 A G 2: 169,884,197 T238A possibly damaging Het
Ttc8 T C 12: 98,942,303 M17T probably benign Het
Tubgcp5 G A 7: 55,808,637 R432Q probably damaging Het
Ugt1a10 T A 1: 88,056,252 probably null Het
Usp4 T A 9: 108,362,678 I202N probably damaging Het
Vmn1r194 T G 13: 22,245,000 S262R probably benign Het
Vmn2r101 T C 17: 19,611,635 F631S possibly damaging Het
Vps13b T A 15: 35,770,809 S2133T probably damaging Het
Zfp13 C A 17: 23,580,860 V77F probably benign Het
Zscan10 T A 17: 23,609,632 C306S probably damaging Het
Other mutations in Pptc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Pptc7 APN 5 122313602 missense probably damaging 1.00
IGL02606:Pptc7 APN 5 122313588 splice site probably benign
R0632:Pptc7 UTSW 5 122313591 splice site probably benign
R1829:Pptc7 UTSW 5 122313616 missense probably damaging 1.00
R4899:Pptc7 UTSW 5 122284717 missense possibly damaging 0.51
R5119:Pptc7 UTSW 5 122313781 missense possibly damaging 0.92
R5600:Pptc7 UTSW 5 122320855 missense probably damaging 1.00
R7214:Pptc7 UTSW 5 122313777 missense probably benign 0.01
R7497:Pptc7 UTSW 5 122284879 missense possibly damaging 0.51
R7513:Pptc7 UTSW 5 122308129 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCTAAGTTCTCAGCCAATGATC -3'
(R):5'- AAGGATCTGGCAATGACAACC -3'

Sequencing Primer
(F):5'- CTCAGCCAATGATCATGGTCTGAAG -3'
(R):5'- TTTAATCCTAGCACTCAGGAGGCAG -3'
Posted On2016-06-15