Mutagenetix > Incidental Mutation

Incidental Mutation 'R1553:Prf1'

170095

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

039592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61133612-61140459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61138948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 302 (V302A)

Ref Sequence

ENSEMBL: ENSMUSP00000151354 (fasta)

Gene Model

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

AlphaFold

P10820

Predicted Effect

probably damaging
Transcript: ENSMUST00000035419
AA Change: V302A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: V302A

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 damaging
Transcript: ENSMUST00000219375
AA Change: V302A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	G	T	5: 24,613,748 (GRCm39)	A649S	probably damaging	Het
Adam6a	T	A	12: 113,508,835 (GRCm39)	C403S	probably damaging	Het
Adgrg3	T	C	8: 95,766,896 (GRCm39)	F417S	possibly damaging	Het
Ago1	T	C	4: 126,334,194 (GRCm39)	E439G	probably damaging	Het
Alox15	A	G	11: 70,240,458 (GRCm39)	V241A	possibly damaging	Het
Arhgap6	A	G	X: 168,048,480 (GRCm39)	H566R	probably damaging	Het
Asap1	A	T	15: 64,024,701 (GRCm39)	F345I	probably benign	Het
Atp1b2	A	G	11: 69,493,678 (GRCm39)	Y134H	probably damaging	Het
Atp8b3	G	A	10: 80,368,376 (GRCm39)	T199M	probably damaging	Het
Calb1	A	T	4: 15,895,656 (GRCm39)	S115C	probably damaging	Het
Ccdc68	A	T	18: 70,073,192 (GRCm39)	I47F	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,540 (GRCm39)	N560I	probably benign	Het
Cdhr3	T	C	12: 33,092,370 (GRCm39)	D747G	probably benign	Het
Cdk5rap1	T	G	2: 154,194,171 (GRCm39)	N378T	probably damaging	Het
Chil4	T	G	3: 106,111,006 (GRCm39)	N296T	probably benign	Het
Cryaa	G	A	17: 31,898,533 (GRCm39)	V87I	probably damaging	Het
Csk	G	A	9: 57,538,225 (GRCm39)	L28F	probably damaging	Het
Cspp1	A	G	1: 10,156,122 (GRCm39)	N444D	possibly damaging	Het
Cyp2j8	A	G	4: 96,363,794 (GRCm39)	Y290H	probably benign	Het
Eps8l1	A	T	7: 4,480,448 (GRCm39)	D563V	probably damaging	Het
Fam111a	A	T	19: 12,564,682 (GRCm39)	S144C	possibly damaging	Het
Fam135a	A	T	1: 24,060,951 (GRCm39)	S1145R	probably damaging	Het
Fpr2	T	A	17: 18,113,856 (GRCm39)	V284D	possibly damaging	Het
Furin	A	G	7: 80,048,340 (GRCm39)		probably null	Het
Gatd1	T	C	7: 140,989,806 (GRCm39)	T135A	probably benign	Het
Gdf3	A	G	6: 122,586,724 (GRCm39)	S68P	probably benign	Het
Gm6871	T	C	7: 41,195,822 (GRCm39)	H305R	probably benign	Het
Grip1	A	G	10: 119,890,756 (GRCm39)	S917G	probably damaging	Het
Hdac10	T	A	15: 89,009,718 (GRCm39)	E388V	possibly damaging	Het
Hectd1	T	C	12: 51,820,661 (GRCm39)	N1176S	probably damaging	Het
Hectd4	A	G	5: 121,487,322 (GRCm39)	D3439G	probably benign	Het
Kcna4	T	C	2: 107,127,032 (GRCm39)	Y589H	probably benign	Het
Kcnk5	A	T	14: 20,192,462 (GRCm39)	L233Q	probably damaging	Het
Kcnt1	T	C	2: 25,790,397 (GRCm39)	I453T	probably damaging	Het
Kifc3	A	G	8: 95,833,170 (GRCm39)	I440T	possibly damaging	Het
Krt10	C	A	11: 99,276,806 (GRCm39)	G40*	probably null	Het
Lce1i	A	T	3: 92,685,102 (GRCm39)	C25S	unknown	Het
Met	A	G	6: 17,491,460 (GRCm39)	N74S	probably benign	Het
Naa35	G	A	13: 59,766,093 (GRCm39)		probably null	Het
Naalad2	T	C	9: 18,289,965 (GRCm39)	N221S	probably benign	Het
Nolc1	AGCG	AGCGGCG	19: 46,069,814 (GRCm39)		probably benign	Het
Nsmf	T	C	2: 24,950,271 (GRCm39)	V181A	probably damaging	Het
Nwd2	T	A	5: 63,957,848 (GRCm39)	S393T	probably benign	Het
Or12j3	T	A	7: 139,952,951 (GRCm39)	T191S	probably damaging	Het
Or2d3c	A	T	7: 106,526,201 (GRCm39)	V155E	possibly damaging	Het
Or51a6	T	A	7: 102,604,425 (GRCm39)	I128L	possibly damaging	Het
Papola	T	A	12: 105,786,669 (GRCm39)	S453R	probably benign	Het
Paqr9	A	G	9: 95,442,262 (GRCm39)	N84S	probably damaging	Het
Pde5a	T	C	3: 122,572,585 (GRCm39)	V290A	probably benign	Het
Psg18	T	C	7: 18,087,406 (GRCm39)	Y84C	probably benign	Het
Rasgrf2	C	T	13: 92,038,783 (GRCm39)	R1021H	probably damaging	Het
Rnf114	G	T	2: 167,354,522 (GRCm39)	R201L	possibly damaging	Het
Rp1l1	A	G	14: 64,269,343 (GRCm39)	E1643G	probably benign	Het
Scg3	T	A	9: 75,576,586 (GRCm39)	E263V	probably null	Het
Scn2a	C	T	2: 65,544,180 (GRCm39)	R854*	probably null	Het
Setdb2	T	C	14: 59,654,934 (GRCm39)	K319E	probably benign	Het
Stub1	A	T	17: 26,051,097 (GRCm39)	V95E	probably damaging	Het
Tas2r140	T	A	6: 133,032,471 (GRCm39)	N96Y	probably damaging	Het
Tecta	T	A	9: 42,259,482 (GRCm39)	D1467V	probably damaging	Het
Tenm3	T	A	8: 48,689,456 (GRCm39)	T2044S	probably damaging	Het
Tlr2	T	A	3: 83,744,770 (GRCm39)	M438L	probably benign	Het
Tmem179	T	C	12: 112,471,094 (GRCm39)	Y106C	probably benign	Het
Tspan7	A	G	X: 10,451,854 (GRCm39)	H187R	probably benign	Het
Ttn	T	C	2: 76,757,619 (GRCm39)	D3332G	probably damaging	Het
Upp2	T	C	2: 58,680,152 (GRCm39)	F326S	probably damaging	Het
Usp2	T	A	9: 44,003,452 (GRCm39)	D224E	probably damaging	Het
Vmn1r5	T	A	6: 56,962,483 (GRCm39)	F53I	probably benign	Het
Wapl	T	A	14: 34,451,147 (GRCm39)	L727H	probably damaging	Het
Wipf1	T	C	2: 73,267,870 (GRCm39)	D176G	possibly damaging	Het
Xpnpep1	G	T	19: 52,994,769 (GRCm39)	D243E	probably benign	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	possibly damaging	Het
Zfyve26	G	A	12: 79,334,535 (GRCm39)	P161L	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
R0526:Prf1	UTSW	10	61,136,033 (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
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'- TGATGAGGTAGGAGACTGCCTGAAC -3'
(R):5'- TGACCTTTGAATCCTGGCACTCAC -3'

Sequencing Primer
(F):5'- GACTGCCTGAACGTGGAG -3'
(R):5'- ACTGGCATGAATCATGGCTACTC -3'

Posted On

2014-04-13