Incidental Mutation 'IGL02970:Prf1'
ID 365775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prf1
Ensembl Gene ENSMUSG00000037202
Gene Name perforin 1 (pore forming protein)
Synonyms Pfp, Pfn, perforin, Prf-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02970
Quality Score
Status
Chromosome 10
Chromosomal Location 61133612-61140459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61135957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 78 (S78P)
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: S78P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: S78P

DomainStartEndE-ValueType
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: S78P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,226,748 (GRCm39) G5S probably damaging Het
A2ml1 A T 6: 128,546,942 (GRCm39) F396I probably damaging Het
BC051019 T A 7: 109,315,262 (GRCm39) N331I probably benign Het
Crocc G A 4: 140,757,557 (GRCm39) S912L possibly damaging Het
Dcaf4 A G 12: 83,575,989 (GRCm39) D46G probably damaging Het
Dido1 C T 2: 180,331,208 (GRCm39) R80Q probably damaging Het
Dnase2b A G 3: 146,288,261 (GRCm39) V278A probably damaging Het
Drosha C T 15: 12,914,042 (GRCm39) L1106F probably damaging Het
Dsc3 C A 18: 20,101,317 (GRCm39) W692L probably damaging Het
F2 T A 2: 91,455,896 (GRCm39) Y579F possibly damaging Het
Fam43a C T 16: 30,419,922 (GRCm39) R169C probably damaging Het
Gm9772 A G 17: 22,225,540 (GRCm39) F120S probably damaging Het
Gsdma3 T C 11: 98,523,819 (GRCm39) S251P probably benign Het
Hycc2 T C 1: 58,578,776 (GRCm39) E258G probably damaging Het
Itgam G A 7: 127,685,215 (GRCm39) E443K probably benign Het
Kif18a T C 2: 109,118,233 (GRCm39) V16A probably damaging Het
Lrrn3 T G 12: 41,502,359 (GRCm39) S653R probably benign Het
Map1b A T 13: 99,567,242 (GRCm39) Y1826* probably null Het
Mbnl1 T C 3: 60,520,844 (GRCm39) F139S probably damaging Het
Micu3 T C 8: 40,835,171 (GRCm39) Y509H possibly damaging Het
Ncmap T C 4: 135,104,329 (GRCm39) T17A probably damaging Het
Oas1h T A 5: 120,999,698 (GRCm39) M61K possibly damaging Het
Otog T A 7: 45,945,291 (GRCm39) W2183R probably benign Het
Pcdh15 T C 10: 74,126,794 (GRCm39) probably benign Het
Plekho1 C T 3: 95,898,214 (GRCm39) V150I probably damaging Het
Ppargc1b A G 18: 61,431,837 (GRCm39) S1004P probably damaging Het
Prss12 A G 3: 123,276,411 (GRCm39) S347G probably benign Het
Rai1 T C 11: 60,076,559 (GRCm39) S208P probably damaging Het
Sgms1 A G 19: 32,137,165 (GRCm39) Y134H probably damaging Het
Sult2a4 A G 7: 13,643,831 (GRCm39) probably benign Het
T C T 17: 8,654,217 (GRCm39) A134V probably damaging Het
Thoc5 A G 11: 4,854,201 (GRCm39) T187A probably damaging Het
Ticrr A G 7: 79,344,919 (GRCm39) S1595G probably benign Het
Tiprl A G 1: 165,064,315 (GRCm39) S30P probably damaging Het
Ttl T C 2: 128,917,990 (GRCm39) S151P probably damaging Het
Ttn T A 2: 76,583,334 (GRCm39) T22520S probably damaging Het
Usp54 G A 14: 20,627,540 (GRCm39) S420L probably damaging Het
Vmn1r62 T A 7: 5,678,567 (GRCm39) Y83N possibly damaging Het
Other mutations in Prf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-12-18