Mutagenetix > Incidental Mutation

Incidental Mutation 'R0526:Prf1'

48939

Institutional Source

Beutler Lab

Gene Symbol

Prf1

Ensembl Gene

ENSMUSG00000037202

Gene Name

perforin 1 (pore forming protein)

Synonyms

Pfp, Pfn, perforin, Prf-1

MMRRC Submission

038719-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0526 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

61133612-61140459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61136033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 103 (R103H)

Ref Sequence

ENSEMBL: ENSMUSP00000151354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035419] [ENSMUST00000219375]

AlphaFold

P10820

Predicted Effect

probably benign
Transcript: ENSMUST00000035419
AA Change: R103H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: R103H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
MACPF	165	368	1.84e-80	SMART
C2	415	516	1.59e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219375
AA Change: R103H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit increased susceptibility to viral infection and defective cytotoxic T cell cytolysis and NK cell cytolysis. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted(7)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,535 (GRCm39)	N230I	possibly damaging	Het
4933427D14Rik	G	T	11: 72,060,609 (GRCm39)	Q687K	probably damaging	Het
Actrt2	A	G	4: 154,751,869 (GRCm39)	L89P	probably damaging	Het
Adamts1	A	C	16: 85,599,260 (GRCm39)	S113R	probably benign	Het
Agxt2	G	T	15: 10,373,948 (GRCm39)	C118F	probably damaging	Het
Akap8	G	A	17: 32,536,266 (GRCm39)	T49I	probably benign	Het
Alk	A	T	17: 72,176,748 (GRCm39)	W1519R	probably damaging	Het
Atf7ip	T	A	6: 136,536,803 (GRCm39)	F12Y	probably damaging	Het
Atp13a5	A	G	16: 29,167,558 (GRCm39)	C131R	probably damaging	Het
Atp8b4	A	G	2: 126,269,283 (GRCm39)	L168P	probably damaging	Het
Blm	G	T	7: 80,155,641 (GRCm39)	S346*	probably null	Het
Ccnt2	T	G	1: 127,727,182 (GRCm39)	C199G	probably damaging	Het
Cd151	A	T	7: 141,050,504 (GRCm39)	H219L	probably damaging	Het
Cd200r2	A	T	16: 44,735,410 (GRCm39)	R248S	probably damaging	Het
Cdh3	A	G	8: 107,282,078 (GRCm39)	D822G	possibly damaging	Het
Clec4b1	T	C	6: 123,046,729 (GRCm39)		probably null	Het
Cluh	C	A	11: 74,556,812 (GRCm39)	L951I	probably benign	Het
Cog7	A	T	7: 121,562,494 (GRCm39)		probably null	Het
Col25a1	C	A	3: 130,270,043 (GRCm39)	P197Q	probably damaging	Het
Csde1	T	A	3: 102,963,742 (GRCm39)	S636R	possibly damaging	Het
Ect2l	C	A	10: 18,075,688 (GRCm39)	C66F	possibly damaging	Het
Elac2	T	C	11: 64,890,262 (GRCm39)	M671T	probably benign	Het
Evi5	T	C	5: 107,969,614 (GRCm39)	N143S	probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fbxo38	A	G	18: 62,639,051 (GRCm39)	Y1084H	probably damaging	Het
Fcgr4	T	A	1: 170,856,760 (GRCm39)	L209Q	probably damaging	Het
Fgd3	C	T	13: 49,450,000 (GRCm39)	S83N	probably benign	Het
Gigyf2	T	A	1: 87,349,215 (GRCm39)	M664K	probably benign	Het
Il27ra	A	T	8: 84,766,128 (GRCm39)	S219T	probably benign	Het
Itprid2	A	G	2: 79,487,690 (GRCm39)	D591G	probably benign	Het
Kif15	T	C	9: 122,826,862 (GRCm39)	V800A	probably damaging	Het
Lmo7	T	A	14: 102,137,996 (GRCm39)	D666E	probably damaging	Het
Lrp5	T	C	19: 3,678,295 (GRCm39)	D520G	probably damaging	Het
Lrriq3	T	A	3: 154,893,934 (GRCm39)	M545K	probably benign	Het
Lsm5	T	A	6: 56,680,310 (GRCm39)	D44V	probably damaging	Het
Man1c1	G	T	4: 134,296,379 (GRCm39)	Y430*	probably null	Het
Map4	T	A	9: 109,866,346 (GRCm39)		probably null	Het
Megf6	A	G	4: 154,343,398 (GRCm39)	K561R	probably benign	Het
Myo1e	T	C	9: 70,229,680 (GRCm39)	Y173H	probably damaging	Het
Myo6	T	A	9: 80,190,823 (GRCm39)	S791R	possibly damaging	Het
Nol11	C	A	11: 107,075,597 (GRCm39)	E144*	probably null	Het
Ntng2	C	T	2: 29,087,074 (GRCm39)	R416Q	probably damaging	Het
Nxpe3	T	A	16: 55,686,880 (GRCm39)	I43F	possibly damaging	Het
Or4g17	T	A	2: 111,209,837 (GRCm39)	V164E	possibly damaging	Het
Or5t5	A	T	2: 86,616,691 (GRCm39)	T206S	possibly damaging	Het
Pkd1l2	T	C	8: 117,808,999 (GRCm39)	I64V	probably damaging	Het
Rest	A	G	5: 77,428,874 (GRCm39)	D431G	probably damaging	Het
Serpina10	A	T	12: 103,583,127 (GRCm39)	L439Q	probably damaging	Het
Sgk3	T	G	1: 9,951,804 (GRCm39)	V176G	probably damaging	Het
Slc19a3	A	G	1: 83,000,454 (GRCm39)	S188P	probably damaging	Het
Sorbs1	A	G	19: 40,338,392 (GRCm39)	I336T	probably damaging	Het
Strip1	C	T	3: 107,527,355 (GRCm39)		probably null	Het
Syt4	T	C	18: 31,576,799 (GRCm39)	E185G	possibly damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tgfbr3l	G	T	8: 4,299,439 (GRCm39)	R74L	possibly damaging	Het
Thoc7	A	G	14: 13,949,282 (GRCm38)	M194T	probably benign	Het
Thsd7b	T	C	1: 129,879,129 (GRCm39)	Y989H	probably damaging	Het
Tmem156	C	T	5: 65,233,161 (GRCm39)	V134I	probably benign	Het
Tnks	A	T	8: 35,320,457 (GRCm39)	V738E	probably benign	Het
Trpm6	A	T	19: 18,770,240 (GRCm39)	I342F	probably damaging	Het
Vmn2r69	A	T	7: 85,060,711 (GRCm39)	V291D	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,928,953 (GRCm39)	T1292A	probably damaging	Het
Yes1	T	A	5: 32,812,584 (GRCm39)	C285S	probably benign	Het
Zbed6	T	C	1: 133,586,472 (GRCm39)	I288M	probably damaging	Het
Zbtb49	T	C	5: 38,371,263 (GRCm39)	N206S	probably benign	Het

Other mutations in Prf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02970:Prf1	APN	10	61,135,957 (GRCm39)	missense	probably benign
prime	UTSW	10	61,139,501 (GRCm39)	nonsense	probably null
PIT4802001:Prf1	UTSW	10	61,135,972 (GRCm39)	missense	probably benign	0.01
R0594:Prf1	UTSW	10	61,139,501 (GRCm39)	nonsense	probably null
R1237:Prf1	UTSW	10	61,139,428 (GRCm39)	missense	probably benign	0.00
R1508:Prf1	UTSW	10	61,139,329 (GRCm39)	missense	probably damaging	1.00
R1553:Prf1	UTSW	10	61,138,948 (GRCm39)	missense	probably damaging	1.00
R1665:Prf1	UTSW	10	61,138,666 (GRCm39)	missense	probably benign	0.29
R1716:Prf1	UTSW	10	61,136,231 (GRCm39)	missense	probably benign	0.01
R1817:Prf1	UTSW	10	61,138,762 (GRCm39)	missense	probably damaging	1.00
R1818:Prf1	UTSW	10	61,138,762 (GRCm39)	missense	probably damaging	1.00
R2014:Prf1	UTSW	10	61,139,674 (GRCm39)	missense	probably benign	0.41
R2307:Prf1	UTSW	10	61,138,942 (GRCm39)	missense	possibly damaging	0.80
R2901:Prf1	UTSW	10	61,136,098 (GRCm39)	missense	probably damaging	0.96
R2902:Prf1	UTSW	10	61,136,098 (GRCm39)	missense	probably damaging	0.96
R4724:Prf1	UTSW	10	61,139,487 (GRCm39)	missense	probably damaging	1.00
R4781:Prf1	UTSW	10	61,136,203 (GRCm39)	missense	probably damaging	1.00
R5327:Prf1	UTSW	10	61,136,037 (GRCm39)	missense	probably benign	0.00
R5850:Prf1	UTSW	10	61,135,972 (GRCm39)	missense	probably benign	0.00
R5999:Prf1	UTSW	10	61,138,807 (GRCm39)	missense	probably damaging	1.00
R7356:Prf1	UTSW	10	61,139,059 (GRCm39)	missense	possibly damaging	0.61
R7508:Prf1	UTSW	10	61,135,934 (GRCm39)	missense	possibly damaging	0.89
R7714:Prf1	UTSW	10	61,135,934 (GRCm39)	missense	possibly damaging	0.89
R7716:Prf1	UTSW	10	61,135,934 (GRCm39)	missense	possibly damaging	0.89
R8162:Prf1	UTSW	10	61,138,749 (GRCm39)	missense	probably damaging	1.00
R8749:Prf1	UTSW	10	61,138,948 (GRCm39)	missense	probably damaging	1.00
R9170:Prf1	UTSW	10	61,136,216 (GRCm39)	missense	probably damaging	1.00
Z1177:Prf1	UTSW	10	61,139,619 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGCAGAAGCACAAGTTCGTGCC -3'
(R):5'- ACTGGTCCTGATAGGTCTTCTCAGC -3'

Sequencing Primer
(F):5'- ACAAGTTCGTGCCAGGTG -3'
(R):5'- CTGCAAAATTGGCTACCTTGGAG -3'

Posted On

2013-06-12