Mutagenetix > Incidental Mutation

Incidental Mutation 'R5999:Prf1'

480729

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

044178-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5999 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61133612-61140459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61138807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 255 (D255G)

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: D255G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: D255G

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: D255G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.2685

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

98% (55/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	G	12: 84,122,328 (GRCm39)	D304G	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Akap9	A	G	5: 4,093,925 (GRCm39)	N2149S	probably damaging	Het
Akp3	T	A	1: 87,055,263 (GRCm39)	Y437N	probably damaging	Het
Anks1b	C	T	10: 90,194,910 (GRCm39)	T530I	probably damaging	Het
Bltp2	T	C	11: 78,176,294 (GRCm39)	F1799L	probably damaging	Het
Bnc2	C	T	4: 84,474,137 (GRCm39)	R3H	probably benign	Het
Cald1	A	T	6: 34,723,273 (GRCm39)		probably benign	Het
Capn9	A	G	8: 125,315,817 (GRCm39)	T87A	probably damaging	Het
Ccdc88c	A	G	12: 100,934,613 (GRCm39)	L175P	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Cd44	A	T	2: 102,675,742 (GRCm39)	N310K	probably benign	Het
Cenpc1	T	A	5: 86,160,122 (GRCm39)	K905N	probably damaging	Het
Cept1	A	T	3: 106,440,759 (GRCm39)	D133E	probably damaging	Het
Cltc	T	C	11: 86,594,955 (GRCm39)	H1381R	possibly damaging	Het
Col4a4	T	A	1: 82,470,340 (GRCm39)	T730S	unknown	Het
Col6a4	A	T	9: 105,945,120 (GRCm39)	M998K	probably benign	Het
Cpne6	T	C	14: 55,750,516 (GRCm39)	V119A	probably benign	Het
Ddx54	G	T	5: 120,761,645 (GRCm39)	A474S	probably benign	Het
Dmbx1	G	T	4: 115,775,373 (GRCm39)	N302K	probably damaging	Het
Dnah8	A	G	17: 30,882,279 (GRCm39)	E617G	probably benign	Het
Ei24	A	G	9: 36,704,603 (GRCm39)	V10A	probably benign	Het
Elp3	A	G	14: 65,768,989 (GRCm39)	V543A	probably benign	Het
Frmd3	T	C	4: 74,088,928 (GRCm39)	I375T	possibly damaging	Het
Gm6408	A	G	5: 146,421,067 (GRCm39)	D232G	possibly damaging	Het
Inmt	A	T	6: 55,151,933 (GRCm39)	Y12*	probably null	Het
Inpp5k	G	T	11: 75,523,926 (GRCm39)	A44S	probably damaging	Het
Kalrn	T	A	16: 34,177,713 (GRCm39)	T169S	probably damaging	Het
Kif28	A	T	1: 179,523,355 (GRCm39)	F992I	probably damaging	Het
Kmt2c	A	T	5: 25,489,203 (GRCm39)	Y1199N	probably damaging	Het
Large2	C	T	2: 92,196,403 (GRCm39)	E475K	probably benign	Het
Mroh2b	T	A	15: 4,942,366 (GRCm39)		probably null	Het
Mrpl42	T	C	10: 95,336,341 (GRCm39)		probably benign	Het
Muc5b	A	T	7: 141,411,116 (GRCm39)	H1354L	unknown	Het
Myof	C	A	19: 37,928,304 (GRCm39)	E1095*	probably null	Het
Ncor2	A	G	5: 125,110,505 (GRCm39)	V1385A	probably damaging	Het
Nr5a2	T	C	1: 136,773,280 (GRCm39)	Y474C	probably damaging	Het
Or1j10	A	G	2: 36,267,322 (GRCm39)	D178G	probably damaging	Het
Or5a21	C	T	19: 12,311,008 (GRCm39)	D71N	probably damaging	Het
Or5l13	A	T	2: 87,780,145 (GRCm39)		probably null	Het
Pogz	A	G	3: 94,763,428 (GRCm39)	T67A	possibly damaging	Het
Prep	T	A	10: 44,948,225 (GRCm39)		probably null	Het
Psme2	A	G	14: 55,827,539 (GRCm39)	L24P	probably damaging	Het
Scmh1	T	A	4: 120,362,712 (GRCm39)		probably null	Het
Scpep1	A	G	11: 88,820,139 (GRCm39)	V383A	possibly damaging	Het
Slc4a10	A	T	2: 62,073,775 (GRCm39)	N279I	probably benign	Het
Sphkap	T	C	1: 83,245,126 (GRCm39)	S1498G	probably benign	Het
Spinkl	C	A	18: 44,301,206 (GRCm39)	S44I	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tle5	T	C	10: 81,397,098 (GRCm39)	S25P	probably damaging	Het
Tmem213	A	G	6: 38,086,386 (GRCm39)	Q14R	probably benign	Het
Tns1	A	T	1: 73,967,256 (GRCm39)	Y1172*	probably null	Het
Ugt2b37	A	C	5: 87,402,036 (GRCm39)	I198M	probably benign	Het
Usp17lb	A	C	7: 104,489,552 (GRCm39)	I457M	probably damaging	Het
Usp6nl	G	T	2: 6,446,150 (GRCm39)	R709L	probably damaging	Het
Zer1	A	G	2: 29,995,009 (GRCm39)	L462P	probably damaging	Het
Zfhx2	A	G	14: 55,311,462 (GRCm39)	S411P	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
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
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'- CCACAGTTTTCGCCTGGTAC -3'
(R):5'- ATCATGCGTGGAGTCCAGAG -3'

Sequencing Primer
(F):5'- TTGACTTCAAAAAGGCGCTCAG -3'
(R):5'- AGAGGGCCACCAAGTACTTCG -3'

Posted On

2017-06-26