Incidental Mutation 'IGL03087:Pfpl'
ID418139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pfpl
Ensembl Gene ENSMUSG00000040065
Gene Namepore forming protein-like
SynonymsEpcs5, Epcs50
Accession Numbers

Genbank: NM_019540; MGI: 1860266

Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL03087
Quality Score
Status
Chromosome19
Chromosomal Location12427905-12432110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12428877 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 164 (N164S)
Ref Sequence ENSEMBL: ENSMUSP00000126346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168148]
Predicted Effect probably benign
Transcript: ENSMUST00000168148
AA Change: N164S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: N164S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
MACPF 144 343 6.26e-33 SMART
transmembrane domain 643 665 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap1g2 G A 14: 55,103,036 T331I probably damaging Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Bphl A T 13: 34,073,711 H275L probably damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Eno4 A G 19: 58,962,816 H420R possibly damaging Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Golim4 A T 3: 75,878,673 H598Q possibly damaging Het
Hnrnpdl T A 5: 100,037,601 E149D probably damaging Het
Ifngr2 G T 16: 91,563,004 *333L probably null Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pi4kb A G 3: 94,984,764 R264G probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Trmt1 A G 8: 84,695,233 Y213C probably damaging Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Pfpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Pfpl APN 19 12429645 missense probably benign 0.00
IGL01298:Pfpl APN 19 12428673 missense possibly damaging 0.68
IGL01310:Pfpl APN 19 12428610 missense probably damaging 1.00
IGL02273:Pfpl APN 19 12429963 missense possibly damaging 0.96
IGL02532:Pfpl APN 19 12428845 missense probably damaging 1.00
IGL02611:Pfpl APN 19 12430283 missense probably benign
IGL02642:Pfpl APN 19 12429743 missense probably damaging 1.00
IGL02715:Pfpl APN 19 12429781 nonsense probably null
IGL03223:Pfpl APN 19 12430074 missense probably damaging 1.00
IGL03253:Pfpl APN 19 12430029 missense probably damaging 0.99
D3080:Pfpl UTSW 19 12428832 missense probably damaging 0.98
R0276:Pfpl UTSW 19 12429237 missense probably damaging 1.00
R0433:Pfpl UTSW 19 12429475 missense probably damaging 1.00
R1004:Pfpl UTSW 19 12430425 missense probably benign 0.00
R1510:Pfpl UTSW 19 12429696 missense probably benign 0.31
R1759:Pfpl UTSW 19 12429860 missense probably damaging 1.00
R2009:Pfpl UTSW 19 12429955 missense possibly damaging 0.95
R2063:Pfpl UTSW 19 12429873 missense probably damaging 1.00
R2201:Pfpl UTSW 19 12430479 missense probably benign 0.01
R2656:Pfpl UTSW 19 12430236 missense probably benign
R2969:Pfpl UTSW 19 12429543 missense probably benign 0.00
R3003:Pfpl UTSW 19 12430326 missense possibly damaging 0.90
R3428:Pfpl UTSW 19 12430313 missense probably benign 0.37
R3904:Pfpl UTSW 19 12430437 missense probably benign 0.00
R4049:Pfpl UTSW 19 12429689 missense probably damaging 1.00
R4717:Pfpl UTSW 19 12429254 missense probably benign 0.07
R5343:Pfpl UTSW 19 12428688 missense probably damaging 0.99
R5804:Pfpl UTSW 19 12429663 missense probably benign 0.00
R6032:Pfpl UTSW 19 12429383 missense probably damaging 0.99
R6032:Pfpl UTSW 19 12429383 missense probably damaging 0.99
R6047:Pfpl UTSW 19 12429233 missense probably damaging 1.00
R6106:Pfpl UTSW 19 12429461 missense probably damaging 0.99
R6657:Pfpl UTSW 19 12429926 missense probably benign 0.36
R7467:Pfpl UTSW 19 12428514 missense probably damaging 1.00
R7720:Pfpl UTSW 19 12429174 missense probably benign 0.02
R8024:Pfpl UTSW 19 12430206 missense possibly damaging 0.94
R8370:Pfpl UTSW 19 12429911 missense probably damaging 0.99
Z1176:Pfpl UTSW 19 12429941 nonsense probably null
Posted On2016-08-02