Incidental Mutation 'R9663:Pfpl'
ID 727729
Institutional Source Beutler Lab
Gene Symbol Pfpl
Ensembl Gene ENSMUSG00000040065
Gene Name pore forming protein-like
Synonyms Epcs5, Epcs50
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R9663 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 12405290-12409474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12407459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 570 (D570V)
Ref Sequence ENSEMBL: ENSMUSP00000126346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168148]
AlphaFold Q5RKV8
Predicted Effect probably damaging
Transcript: ENSMUST00000168148
AA Change: D570V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: D570V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh6 T C 7: 30,013,371 (GRCm39) S161P probably damaging Het
Alppl2 T A 1: 87,015,753 (GRCm39) H297L probably benign Het
Angptl2 A G 2: 33,118,231 (GRCm39) R2G probably benign Het
Arhgef15 T A 11: 68,845,255 (GRCm39) N199I probably damaging Het
Asns A T 6: 7,680,132 (GRCm39) I328K probably damaging Het
Atad2 G T 15: 57,971,540 (GRCm39) T734K probably benign Het
Capn3 A C 2: 120,316,859 (GRCm39) M283L probably benign Het
Catsperd T A 17: 56,960,751 (GRCm39) C384S possibly damaging Het
Cd101 A G 3: 100,911,222 (GRCm39) V816A probably benign Het
Cd5 T G 19: 10,703,858 (GRCm39) D68A probably benign Het
Ceacam18 G A 7: 43,288,764 (GRCm39) V172M probably damaging Het
Cfap100 G A 6: 90,386,328 (GRCm39) R276C Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Creb3l2 A G 6: 37,356,926 (GRCm39) V47A probably damaging Het
Crebbp T A 16: 3,933,654 (GRCm39) E1017D probably damaging Het
Cttn T C 7: 144,011,461 (GRCm39) D116G probably damaging Het
Cyp2c65 A G 19: 39,079,070 (GRCm39) probably null Het
Dcaf13 C T 15: 38,982,178 (GRCm39) T48I possibly damaging Het
Dsc2 T A 18: 20,171,205 (GRCm39) D598V probably damaging Het
Dtx3 G A 10: 127,028,518 (GRCm39) T237I probably damaging Het
E130308A19Rik A G 4: 59,719,764 (GRCm39) E432G possibly damaging Het
Eps15 G A 4: 109,179,270 (GRCm39) V219I probably benign Het
Ext1 A G 15: 53,208,456 (GRCm39) S102P probably damaging Het
Fam151a A T 4: 106,604,894 (GRCm39) I419L possibly damaging Het
Fam89a C T 8: 125,478,436 (GRCm39) G38D probably damaging Het
Fdx2 G T 9: 20,984,717 (GRCm39) A29E probably benign Het
Hhla1 G A 15: 65,813,630 (GRCm39) T234I probably damaging Het
Hspb6 G A 7: 30,253,714 (GRCm39) V76M probably damaging Het
Ighmbp2 C A 19: 3,315,325 (GRCm39) K698N probably benign Het
Invs A G 4: 48,426,218 (GRCm39) I1002V probably damaging Het
Itga8 A C 2: 12,196,580 (GRCm39) F612L probably benign Het
Kcnma1 G T 14: 24,053,897 (GRCm39) F99L probably benign Het
Klf11 A G 12: 24,705,731 (GRCm39) Y395C probably damaging Het
Kplce A T 3: 92,776,283 (GRCm39) N133K probably benign Het
Lama4 G A 10: 38,923,944 (GRCm39) E451K probably damaging Het
Lrr1 A G 12: 69,221,884 (GRCm39) Y342C probably damaging Het
Lrrc18 A T 14: 32,731,021 (GRCm39) M187L probably benign Het
Luc7l3 A G 11: 94,187,756 (GRCm39) S311P unknown Het
Lypd3 T A 7: 24,338,349 (GRCm39) S133R probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mug1 T A 6: 121,859,699 (GRCm39) S1233T probably benign Het
Mug1 A T 6: 121,857,463 (GRCm39) E1062D probably benign Het
Myh7 T C 14: 55,221,098 (GRCm39) K942E probably damaging Het
Nedd9 T C 13: 41,469,941 (GRCm39) D404G probably damaging Het
Nisch C A 14: 30,895,625 (GRCm39) A1022S probably damaging Het
Nkx3-1 A G 14: 69,429,321 (GRCm39) D113G probably benign Het
Or1ad6 T C 11: 50,860,165 (GRCm39) F107L probably benign Het
Or6c1b A T 10: 129,272,929 (GRCm39) I83F probably damaging Het
Or6c215 A G 10: 129,637,497 (GRCm39) F299S probably benign Het
Otub1 C T 19: 7,176,813 (GRCm39) G181D probably damaging Het
Palb2 T C 7: 121,726,304 (GRCm39) H522R probably benign Het
Phyhd1 A G 2: 30,171,070 (GRCm39) N271S probably damaging Het
Ptprm T C 17: 67,498,291 (GRCm39) Q50R probably benign Het
Rfx2 C A 17: 57,087,895 (GRCm39) V499L possibly damaging Het
Sema5a C T 15: 32,673,546 (GRCm39) Q795* probably null Het
Sf3a2 A G 10: 80,637,309 (GRCm39) N49S probably damaging Het
Sft2d1 T G 17: 8,545,812 (GRCm39) S156A probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc25a33 T A 4: 149,836,913 (GRCm39) T144S probably benign Het
Slc7a13 A T 4: 19,818,818 (GRCm39) K6M possibly damaging Het
Spata31e5 G T 1: 28,816,536 (GRCm39) H499N probably benign Het
Tfap2c G A 2: 172,399,213 (GRCm39) D487N probably damaging Het
Thbs1 G A 2: 117,949,897 (GRCm39) R624Q probably damaging Het
Thsd4 A G 9: 59,890,026 (GRCm39) F857S probably damaging Het
Tnfrsf4 A G 4: 156,100,884 (GRCm39) I272V probably benign Het
Trak1 C T 9: 121,220,924 (GRCm39) R45C probably benign Het
Trpm2 A G 10: 77,756,320 (GRCm39) S1167P probably benign Het
Ttc14 A T 3: 33,855,537 (GRCm39) T161S probably benign Het
Ttll1 A G 15: 83,380,579 (GRCm39) V262A possibly damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ufsp1 C A 5: 137,293,545 (GRCm39) P165Q possibly damaging Het
Usp19 T G 9: 108,371,894 (GRCm39) L390R probably damaging Het
Vegfc G T 8: 54,634,338 (GRCm39) C339F probably damaging Het
Vmn2r6 A T 3: 64,463,549 (GRCm39) N428K possibly damaging Het
Wdr11 T G 7: 129,210,647 (GRCm39) V517G probably damaging Het
Xkr4 T A 1: 3,286,519 (GRCm39) D557V probably benign Het
Zan C A 5: 137,379,119 (GRCm39) C5327F unknown Het
Zfp770 A T 2: 114,026,949 (GRCm39) N373K probably benign Het
Other mutations in Pfpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Pfpl APN 19 12,407,009 (GRCm39) missense probably benign 0.00
IGL01298:Pfpl APN 19 12,406,037 (GRCm39) missense possibly damaging 0.68
IGL01310:Pfpl APN 19 12,405,974 (GRCm39) missense probably damaging 1.00
IGL02273:Pfpl APN 19 12,407,327 (GRCm39) missense possibly damaging 0.96
IGL02532:Pfpl APN 19 12,406,209 (GRCm39) missense probably damaging 1.00
IGL02611:Pfpl APN 19 12,407,647 (GRCm39) missense probably benign
IGL02642:Pfpl APN 19 12,407,107 (GRCm39) missense probably damaging 1.00
IGL02715:Pfpl APN 19 12,407,145 (GRCm39) nonsense probably null
IGL03087:Pfpl APN 19 12,406,241 (GRCm39) missense probably benign 0.06
IGL03223:Pfpl APN 19 12,407,438 (GRCm39) missense probably damaging 1.00
IGL03253:Pfpl APN 19 12,407,393 (GRCm39) missense probably damaging 0.99
pegged UTSW 19 12,406,374 (GRCm39) missense probably damaging 1.00
D3080:Pfpl UTSW 19 12,406,196 (GRCm39) missense probably damaging 0.98
R0276:Pfpl UTSW 19 12,406,601 (GRCm39) missense probably damaging 1.00
R0433:Pfpl UTSW 19 12,406,839 (GRCm39) missense probably damaging 1.00
R1004:Pfpl UTSW 19 12,407,789 (GRCm39) missense probably benign 0.00
R1510:Pfpl UTSW 19 12,407,060 (GRCm39) missense probably benign 0.31
R1759:Pfpl UTSW 19 12,407,224 (GRCm39) missense probably damaging 1.00
R2009:Pfpl UTSW 19 12,407,319 (GRCm39) missense possibly damaging 0.95
R2063:Pfpl UTSW 19 12,407,237 (GRCm39) missense probably damaging 1.00
R2201:Pfpl UTSW 19 12,407,843 (GRCm39) missense probably benign 0.01
R2656:Pfpl UTSW 19 12,407,600 (GRCm39) missense probably benign
R2969:Pfpl UTSW 19 12,406,907 (GRCm39) missense probably benign 0.00
R3003:Pfpl UTSW 19 12,407,690 (GRCm39) missense possibly damaging 0.90
R3428:Pfpl UTSW 19 12,407,677 (GRCm39) missense probably benign 0.37
R3904:Pfpl UTSW 19 12,407,801 (GRCm39) missense probably benign 0.00
R4049:Pfpl UTSW 19 12,407,053 (GRCm39) missense probably damaging 1.00
R4717:Pfpl UTSW 19 12,406,618 (GRCm39) missense probably benign 0.07
R5343:Pfpl UTSW 19 12,406,052 (GRCm39) missense probably damaging 0.99
R5804:Pfpl UTSW 19 12,407,027 (GRCm39) missense probably benign 0.00
R6032:Pfpl UTSW 19 12,406,747 (GRCm39) missense probably damaging 0.99
R6032:Pfpl UTSW 19 12,406,747 (GRCm39) missense probably damaging 0.99
R6047:Pfpl UTSW 19 12,406,597 (GRCm39) missense probably damaging 1.00
R6106:Pfpl UTSW 19 12,406,825 (GRCm39) missense probably damaging 0.99
R6657:Pfpl UTSW 19 12,407,290 (GRCm39) missense probably benign 0.36
R7467:Pfpl UTSW 19 12,405,878 (GRCm39) missense probably damaging 1.00
R7720:Pfpl UTSW 19 12,406,538 (GRCm39) missense probably benign 0.02
R8024:Pfpl UTSW 19 12,407,570 (GRCm39) missense possibly damaging 0.94
R8370:Pfpl UTSW 19 12,407,275 (GRCm39) missense probably damaging 0.99
R8730:Pfpl UTSW 19 12,405,944 (GRCm39) missense probably damaging 1.00
R8974:Pfpl UTSW 19 12,405,839 (GRCm39) missense probably damaging 1.00
R9147:Pfpl UTSW 19 12,405,804 (GRCm39) missense possibly damaging 0.64
R9148:Pfpl UTSW 19 12,405,804 (GRCm39) missense possibly damaging 0.64
R9248:Pfpl UTSW 19 12,406,374 (GRCm39) missense probably damaging 1.00
R9283:Pfpl UTSW 19 12,406,220 (GRCm39) missense probably damaging 1.00
R9542:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9560:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9561:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9670:Pfpl UTSW 19 12,407,107 (GRCm39) missense probably damaging 1.00
R9721:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9722:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9723:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9759:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9761:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9762:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
Z1176:Pfpl UTSW 19 12,407,305 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATGACAAATGAACCATCGTGCC -3'
(R):5'- GCAGGGTATAGGGGTCCTTAAC -3'

Sequencing Primer
(F):5'- CTCTGAAGCTGTTTGAGAACGTCAAG -3'
(R):5'- GGTCCTTAACCCAGGATATGG -3'
Posted On 2022-10-06