Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Pfpl'

730818

Institutional Source

Beutler Lab

Gene Symbol

Pfpl

Ensembl Gene

ENSMUSG00000040065

Gene Name

pore forming protein-like

Synonyms

Epcs5, Epcs50

MMRRC Submission

Accession Numbers

Genbank: NM_019540; MGI: 1860266

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12427905-12432110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 12428933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 183 (E183Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126346 (fasta)

Gene Model

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

AlphaFold

Q5RKV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000168148
AA Change: E183Q

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

SMART Domains

Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: E183Q

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,419,283	Y120N	probably benign	Het
2410089E03Rik	A	G	15: 8,225,409	T27A	unknown	Het
4931428F04Rik	A	T	8: 105,283,188	D376E	probably benign	Het
AI314180	A	T	4: 58,850,938	S412T	probably benign	Het
Alox8	T	A	11: 69,197,085	H131L	probably benign	Het
Atp13a1	A	G	8: 69,799,437	E588G	probably damaging	Het
AU040320	G	A	4: 126,839,648	V654M	probably damaging	Het
Bicra	A	G	7: 15,979,176	L982P	probably damaging	Het
Cdh11	A	T	8: 102,679,625	V72E	probably damaging	Het
Cfap65	T	C	1: 74,919,342	T869A	probably benign	Het
Ddx19a	A	G	8: 110,978,475	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,815,078	V219E	probably damaging	Het
Dhx33	A	G	11: 71,001,598	V115A	probably damaging	Het
Dst	A	G	1: 34,192,785	D3153G	probably benign	Het
Eif5b	T	C	1: 38,037,659		probably null	Het
Ep300	A	G	15: 81,608,315	N284S	unknown	Het
Fam83a	A	G	15: 57,986,117	N19S	probably benign	Het
Fgd5	A	T	6: 91,988,297	T504S	probably benign	Het
Flt4	G	A	11: 49,644,433		probably null	Het
Ggta1	G	T	2: 35,413,406	D91E	probably benign	Het
Gls	A	G	1: 52,212,268	V310A	probably damaging	Het
Gm13178	A	T	4: 144,703,372	V349D	possibly damaging	Het
Gm5414	A	T	15: 101,628,147	C14*	probably null	Het
Gm906	T	C	13: 50,246,652	Y546C	possibly damaging	Het
Gm9887	C	G	12: 69,371,855	A202P	unknown	Het
Ifi214	T	C	1: 173,527,913	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,839,689	R293G	probably benign	Het
Itpr1	A	T	6: 108,406,102	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,293,055	S225P	probably damaging	Het
Kif21a	A	T	15: 90,971,127	I678N	probably damaging	Het
Klf11	T	A	12: 24,660,241	D429E	probably damaging	Het
Kntc1	A	G	5: 123,801,885	T1581A	probably benign	Het
Lama2	T	C	10: 27,467,342	N45D	possibly damaging	Het
Lrrk1	T	C	7: 66,274,875	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,307,385	R365W	probably damaging	Het
Malrd1	C	T	2: 15,696,827	T751I	unknown	Het
Mgat5b	T	C	11: 116,966,769	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,298,675	S535R	possibly damaging	Het
Nckap5	C	T	1: 126,027,280	D512N	probably damaging	Het
Ngef	T	A	1: 87,479,135	D637V	probably damaging	Het
Nup93	T	C	8: 94,303,685	Y391H	probably damaging	Het
Olfr1215	T	C	2: 89,001,716	T191A		Het
Olfr1406	C	A	1: 173,184,348	V29F	probably benign	Het
Olfr1469	A	T	19: 13,410,970	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,309,852	D738E	possibly damaging	Het
Phactr3	G	A	2: 178,256,250	E86K	probably damaging	Het
Psd	C	T	19: 46,323,189	D351N	probably benign	Het
Pzp	A	G	6: 128,495,191		probably null	Het
Rerg	T	A	6: 137,056,417	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,234,978	Y8*	probably null	Het
Spn	A	G	7: 127,136,265	S357P	probably benign	Het
Tek	T	G	4: 94,804,302	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,889,398	H531L	probably benign	Het
Trpm6	A	G	19: 18,829,972	M1027V	probably benign	Het
Tsc2	G	A	17: 24,599,642	R1408*	probably null	Het
Unc13b	A	G	4: 43,101,869	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,179,026	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,549,020	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,434,845	Q1035K	unknown	Het
Zcchc11	T	A	4: 108,555,581	M1493K	probably benign	Het
Zfp14	A	T	7: 30,039,184	S125R	probably benign	Het

Other mutations in Pfpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03087:Pfpl	APN	19	12428877	missense	probably benign	0.06
IGL03223:Pfpl	APN	19	12430074	missense	probably damaging	1.00
IGL03253:Pfpl	APN	19	12430029	missense	probably damaging	0.99
pegged	UTSW	19	12429010	missense	probably damaging	1.00
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
R8730:Pfpl	UTSW	19	12428580	missense	probably damaging	1.00
R8974:Pfpl	UTSW	19	12428475	missense	probably damaging	1.00
R9147:Pfpl	UTSW	19	12428440	missense	possibly damaging	0.64
R9148:Pfpl	UTSW	19	12428440	missense	possibly damaging	0.64
R9248:Pfpl	UTSW	19	12429010	missense	probably damaging	1.00
R9283:Pfpl	UTSW	19	12428856	missense	probably damaging	1.00
R9542:Pfpl	UTSW	19	12428933	missense	probably damaging	1.00
R9560:Pfpl	UTSW	19	12428933	missense	probably damaging	1.00
R9561:Pfpl	UTSW	19	12428933	missense	probably damaging	1.00
R9663:Pfpl	UTSW	19	12430095	missense	probably damaging	1.00
R9670:Pfpl	UTSW	19	12429743	missense	probably damaging	1.00
R9722:Pfpl	UTSW	19	12428933	missense	probably damaging	1.00
R9723:Pfpl	UTSW	19	12428933	missense	probably damaging	1.00
R9759:Pfpl	UTSW	19	12428933	missense	probably damaging	1.00
R9761:Pfpl	UTSW	19	12428933	missense	probably damaging	1.00
R9762:Pfpl	UTSW	19	12428933	missense	probably damaging	1.00
Z1176:Pfpl	UTSW	19	12429941	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTCGATTATCGTCCCAGAGTC -3'
(R):5'- TTGAAGTTCACAACCTTTGCG -3'

Sequencing Primer
(F):5'- AGTCAACGGCAAGTTCTCTTCTGAG -3'
(R):5'- CTTTGCGAAAGTAAATCCAGCAG -3'

Posted On

2022-10-06