Mutagenetix > Incidental Mutation

Incidental Mutation 'R6047:Pfpl'

483362

Institutional Source

Beutler Lab

Gene Symbol

Pfpl

Ensembl Gene

ENSMUSG00000040065

Gene Name

pore forming protein-like

Synonyms

Epcs5, Epcs50

MMRRC Submission

044215-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R6047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12405290-12409474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12406597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 283 (F283L)

Ref Sequence

ENSEMBL: ENSMUSP00000126346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168148]

AlphaFold

Q5RKV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000168148
AA Change: F283L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: F283L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
MACPF	144	343	6.26e-33	SMART
transmembrane domain	643	665	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,856,066 (GRCm39)	I58T	probably damaging	Het
Adgrb2	G	T	4: 129,912,498 (GRCm39)	G1208C	probably damaging	Het
Antxrl	T	C	14: 33,775,433 (GRCm39)		probably benign	Het
Appl2	C	T	10: 83,448,765 (GRCm39)		probably null	Het
Bloc1s2	T	C	19: 44,130,629 (GRCm39)	I112V	possibly damaging	Het
Cblb	G	T	16: 51,932,611 (GRCm39)		probably null	Het
Cdk9	T	C	2: 32,598,285 (GRCm39)		probably null	Het
Dok7	G	A	5: 35,236,651 (GRCm39)	G206D	probably damaging	Het
Ftsj3	C	T	11: 106,143,144 (GRCm39)	R390H	probably damaging	Het
Gpr179	G	T	11: 97,229,242 (GRCm39)	P971Q	probably damaging	Het
Hic1	A	T	11: 75,057,675 (GRCm39)	S405T	possibly damaging	Het
Ifngr1	T	C	10: 19,482,061 (GRCm39)	L217P	probably damaging	Het
Insrr	A	G	3: 87,711,483 (GRCm39)	K468E	probably damaging	Het
Lce1j	G	C	3: 92,696,503 (GRCm39)	R92G	unknown	Het
Lrp12	T	C	15: 39,735,463 (GRCm39)	E823G	probably damaging	Het
Lrp1b	A	G	2: 40,527,787 (GRCm39)	I98T	probably benign	Het
Mbd3l2	A	T	9: 18,356,212 (GRCm39)	H179L	possibly damaging	Het
Med24	A	T	11: 98,598,591 (GRCm39)	C691*	probably null	Het
Mical1	T	C	10: 41,357,703 (GRCm39)		probably null	Het
Msantd2	A	T	9: 37,434,738 (GRCm39)	Y326F	probably damaging	Het
Nfyc	T	A	4: 120,636,314 (GRCm39)		probably null	Het
Nrg3	T	A	14: 38,119,309 (GRCm39)		probably null	Het
Nt5c3	G	A	6: 56,859,964 (GRCm39)	S291L	probably damaging	Het
Pak4	A	G	7: 28,262,461 (GRCm39)	Y384H	probably benign	Het
Pdia5	T	C	16: 35,217,848 (GRCm39)	K512E	probably damaging	Het
Pick1	A	G	15: 79,139,895 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,814,059 (GRCm39)	V4143A	probably damaging	Het
Ptprc	C	T	1: 138,028,779 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,451,897 (GRCm39)	F1342S	probably benign	Het
Slc17a7	A	T	7: 44,822,830 (GRCm39)	I436F	probably benign	Het
Slc34a1	G	T	13: 55,559,884 (GRCm39)	A403S	probably damaging	Het
Stmn3	A	T	2: 180,950,952 (GRCm39)	Y35N	possibly damaging	Het
Tldc2	A	G	2: 156,938,382 (GRCm39)	E207G	probably damaging	Het
Unc79	A	G	12: 103,027,717 (GRCm39)	N436S	probably damaging	Het
Uty	G	T	Y: 1,158,288 (GRCm39)	P538Q	probably damaging	Het
Zzef1	A	G	11: 72,756,921 (GRCm39)	D1142G	probably damaging	Het

Other mutations in Pfpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9663:Pfpl	UTSW	19	12,407,459 (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'- ATCACTAGTGTGGATGCTGG -3'
(R):5'- AGCTTTCCGCAGCAGTTTCC -3'

Sequencing Primer
(F):5'- TCAGGAGGATCATGTAAAGTCCTCC -3'
(R):5'- AGTTTCCACTGTCTTTGCCAG -3'

Posted On

2017-07-14