Incidental Mutation 'R5850:Prf1'
ID 454629
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 043226-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5850 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 61133612-61140459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 61135972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 83 (A83S)
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: A83S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: A83S

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: A83S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Abhd14a A C 9: 106,317,548 (GRCm39) L225R probably damaging Het
Apbb1 A G 7: 105,216,790 (GRCm39) S39P probably damaging Het
Apc T C 18: 34,451,116 (GRCm39) S2637P possibly damaging Het
Apold1 T C 6: 134,961,058 (GRCm39) F171L probably damaging Het
Ascc3 T C 10: 50,587,049 (GRCm39) M967T probably damaging Het
Atf7ip T C 6: 136,543,785 (GRCm39) probably null Het
Bcl2l15 T A 3: 103,743,432 (GRCm39) V111D possibly damaging Het
Bsn A T 9: 107,992,149 (GRCm39) M1201K probably damaging Het
Ccdc141 T A 2: 76,859,747 (GRCm39) N965Y probably damaging Het
Cnn3 T C 3: 121,245,577 (GRCm39) Y98H probably damaging Het
Cnot1 G A 8: 96,460,775 (GRCm39) R117* probably null Het
Dlgap1 G A 17: 71,094,087 (GRCm39) V803M probably damaging Het
Drd3 A C 16: 43,638,695 (GRCm39) M299L probably benign Het
Ergic2 C A 6: 148,084,605 (GRCm39) M34I possibly damaging Het
Ext2 A T 2: 93,644,004 (GRCm39) D92E possibly damaging Het
Fmnl1 A G 11: 103,086,111 (GRCm39) probably benign Het
Ganab C T 19: 8,889,071 (GRCm39) R591W probably damaging Het
Kdsr A T 1: 106,683,172 (GRCm39) probably null Het
Macf1 T C 4: 123,401,099 (GRCm39) E813G probably damaging Het
Nlrc5 A G 8: 95,247,675 (GRCm39) T1621A probably benign Het
Nmnat1 G A 4: 149,554,124 (GRCm39) Q139* probably null Het
Os9 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 10: 126,934,348 (GRCm39) probably benign Het
Oxa1l T G 14: 54,605,121 (GRCm39) V11G possibly damaging Het
Padi1 A G 4: 140,542,141 (GRCm39) Y594H probably benign Het
Polr1a T A 6: 71,903,667 (GRCm39) F327I probably benign Het
Ptgs2 A G 1: 149,981,127 (GRCm39) E470G probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc19a2 A G 1: 164,091,025 (GRCm39) I278V probably benign Het
Smco1 A T 16: 32,092,674 (GRCm39) N115I probably damaging Het
Smyd3 G A 1: 178,871,420 (GRCm39) L320F probably damaging Het
Svil T A 18: 5,098,900 (GRCm39) probably null Het
Syne2 A G 12: 76,144,749 (GRCm39) D1566G probably damaging Het
Tpm2 T C 4: 43,523,296 (GRCm39) D20G probably damaging Het
Ubap1l A G 9: 65,281,045 (GRCm39) Y241C probably damaging Het
Usp15 A G 10: 122,960,417 (GRCm39) probably null Het
Wdr45b A G 11: 121,221,923 (GRCm39) probably benign Het
Zc3h14 A G 12: 98,745,414 (GRCm39) I468V probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Prf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACTCGGTCAGAATGCAAGCAG -3'
(R):5'- TCAGCTGCAAAATTGGCTACC -3'

Sequencing Primer
(F):5'- TGCAAGCAGAAGCACAAGTTC -3'
(R):5'- CTGCAAAATTGGCTACCTTGGAG -3'
Posted On 2017-02-10