Mutagenetix > Incidental Mutation

Incidental Mutation 'R2969:Pfpl'

256072

Institutional Source

Beutler Lab

Gene Symbol

Pfpl

Ensembl Gene

ENSMUSG00000040065

Gene Name

pore forming protein-like

Synonyms

Epcs5, Epcs50

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12405290-12409474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12406907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 386 (R386L)

Ref Sequence

ENSEMBL: ENSMUSP00000126346 (fasta)

Gene Model

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

AlphaFold

Q5RKV8

Predicted Effect

probably benign
Transcript: ENSMUST00000168148
AA Change: R386L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: R386L

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,830,225 (GRCm39)	T137A	probably damaging	Het
Antxr2	A	T	5: 98,178,275 (GRCm39)	L45*	probably null	Het
Armc1	T	C	3: 19,189,024 (GRCm39)	S214G	probably benign	Het
Arsj	T	C	3: 126,233,021 (GRCm39)	I589T	probably benign	Het
C8a	A	G	4: 104,710,974 (GRCm39)	S230P	probably damaging	Het
Cnga3	A	G	1: 37,300,159 (GRCm39)	Y331C	probably damaging	Het
Gm21976	A	G	13: 98,423,790 (GRCm39)	Y33C	unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gtf2i	A	G	5: 134,280,746 (GRCm39)	V556A	probably damaging	Het
Ighv8-12	C	T	12: 115,611,570 (GRCm39)	R118Q	probably benign	Het
Ing4	A	G	6: 125,024,288 (GRCm39)	K131E	probably benign	Het
Mrgprb5	T	A	7: 47,818,317 (GRCm39)	R139S	probably damaging	Het
Nap1l2	A	T	X: 102,229,254 (GRCm39)	D221E	probably benign	Het
Nepn	A	T	10: 52,276,983 (GRCm39)	R179*	probably null	Het
Nrxn3	G	A	12: 89,321,241 (GRCm39)	C383Y	probably damaging	Het
Rere	A	G	4: 150,654,673 (GRCm39)	K402E	unknown	Het
Serpina3n	C	T	12: 104,375,333 (GRCm39)	T135M	probably benign	Het
Slc43a1	C	T	2: 84,687,679 (GRCm39)	T395I	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn1r128	T	A	7: 21,084,046 (GRCm39)	V250D	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
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
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'- TCAAACCTGAAAAGCTTCCTGC -3'
(R):5'- TTGGCCACTCTGAACTCATC -3'

Sequencing Primer
(F):5'- ACTTGGTGGAGCAACTGGC -3'
(R):5'- CTCATCTTTACACGATGTACGACAG -3'

Posted On

2014-12-29