Incidental Mutation 'R0578:Pi15'
ID 56284
Institutional Source Beutler Lab
Gene Symbol Pi15
Ensembl Gene ENSMUSG00000067780
Gene Name peptidase inhibitor 15
Synonyms P25TI, P24TI, SugarCrisp
MMRRC Submission 038768-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0578 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 17672125-17701163 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 17673073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 91 (K91*)
Ref Sequence ENSEMBL: ENSMUSP00000085826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088476]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000088476
AA Change: K91*
SMART Domains Protein: ENSMUSP00000085826
Gene: ENSMUSG00000067780
AA Change: K91*

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
SCP 76 230 9.32e-37 SMART
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,943,556 (GRCm39) Y56C possibly damaging Het
Abca5 A T 11: 110,167,315 (GRCm39) C1500* probably null Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Adam18 T C 8: 25,131,863 (GRCm39) D416G possibly damaging Het
Afap1l2 T A 19: 56,904,214 (GRCm39) Y691F probably benign Het
Akna A G 4: 63,289,147 (GRCm39) S1259P probably benign Het
Atad2 G A 15: 57,968,964 (GRCm39) T525I probably damaging Het
Atp2a1 T G 7: 126,049,315 (GRCm39) M576L probably benign Het
B4galt6 T C 18: 20,861,013 (GRCm39) probably benign Het
Best3 A G 10: 116,844,904 (GRCm39) D353G probably benign Het
Btg3 A T 16: 78,161,834 (GRCm39) D125E probably benign Het
Cabin1 A T 10: 75,549,444 (GRCm39) D1320E probably damaging Het
Cachd1 A C 4: 100,852,039 (GRCm39) probably benign Het
Cad T C 5: 31,216,120 (GRCm39) V151A probably benign Het
Capns1 A T 7: 29,893,453 (GRCm39) probably benign Het
Catsperg2 T A 7: 29,404,116 (GRCm39) T860S possibly damaging Het
Ccdc61 T C 7: 18,637,400 (GRCm39) T76A probably benign Het
Cdipt T A 7: 126,578,702 (GRCm39) probably null Het
Cyp2d12 G A 15: 82,440,584 (GRCm39) probably benign Het
Dennd4c C A 4: 86,730,659 (GRCm39) P852Q probably damaging Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dusp16 G C 6: 134,695,284 (GRCm39) L516V probably damaging Het
Eif2ak4 T G 2: 118,305,472 (GRCm39) probably benign Het
Faf2 C T 13: 54,769,658 (GRCm39) A2V possibly damaging Het
Gas2l3 A G 10: 89,252,937 (GRCm39) I236T probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Got1 G T 19: 43,504,222 (GRCm39) S66R probably benign Het
Gpr149 T A 3: 62,510,110 (GRCm39) H335L possibly damaging Het
Hadhb A G 5: 30,383,804 (GRCm39) I342M probably benign Het
Helz T A 11: 107,577,226 (GRCm39) V1859D unknown Het
Htr1a T A 13: 105,581,595 (GRCm39) N278K probably damaging Het
Inppl1 T C 7: 101,480,795 (GRCm39) E355G probably damaging Het
Isl2 A G 9: 55,452,319 (GRCm39) Y297C probably damaging Het
Kat7 T C 11: 95,182,350 (GRCm39) H250R probably benign Het
Klhl30 A T 1: 91,282,074 (GRCm39) D225V probably benign Het
Mtch2 T C 2: 90,683,174 (GRCm39) probably benign Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Ncoa7 A C 10: 30,577,913 (GRCm39) probably null Het
Nuf2 T A 1: 169,338,118 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,261,017 (GRCm39) D52G probably benign Het
Or6c8 A G 10: 128,915,062 (GRCm39) Y257H probably damaging Het
Pced1a T A 2: 130,261,763 (GRCm39) S297C probably damaging Het
Pla2g4e C T 2: 120,075,162 (GRCm39) probably benign Het
Plce1 A T 19: 38,766,383 (GRCm39) H2136L probably damaging Het
Plec A G 15: 76,061,084 (GRCm39) L2973P probably damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pramel32 T A 4: 88,552,376 (GRCm39) I2F probably benign Het
R3hdm1 C T 1: 128,159,174 (GRCm39) Q950* probably null Het
Rxra C T 2: 27,649,582 (GRCm39) A429V probably damaging Het
Scnn1a G A 6: 125,299,207 (GRCm39) G96S probably damaging Het
Senp5 T A 16: 31,808,163 (GRCm39) T337S possibly damaging Het
Smg9 A G 7: 24,114,468 (GRCm39) D269G probably damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Tmtc1 C T 6: 148,256,716 (GRCm39) probably benign Het
Vmn2r19 T C 6: 123,312,931 (GRCm39) V667A probably damaging Het
Other mutations in Pi15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Pi15 APN 1 17,691,747 (GRCm39) missense probably damaging 1.00
IGL00844:Pi15 APN 1 17,691,764 (GRCm39) splice site probably benign
IGL03388:Pi15 APN 1 17,673,001 (GRCm39) missense probably benign
R0554:Pi15 UTSW 1 17,691,872 (GRCm39) missense probably benign 0.06
R1524:Pi15 UTSW 1 17,690,076 (GRCm39) missense probably benign 0.01
R1665:Pi15 UTSW 1 17,691,726 (GRCm39) missense probably damaging 1.00
R1791:Pi15 UTSW 1 17,672,945 (GRCm39) missense probably benign 0.02
R4767:Pi15 UTSW 1 17,672,990 (GRCm39) missense probably benign
R7804:Pi15 UTSW 1 17,695,137 (GRCm39) nonsense probably null
R7850:Pi15 UTSW 1 17,673,105 (GRCm39) nonsense probably null
R8914:Pi15 UTSW 1 17,691,962 (GRCm39) missense probably damaging 1.00
R8974:Pi15 UTSW 1 17,691,675 (GRCm39) missense possibly damaging 0.82
R8977:Pi15 UTSW 1 17,690,126 (GRCm39) critical splice donor site probably null
R9254:Pi15 UTSW 1 17,695,180 (GRCm39) missense probably benign 0.00
R9567:Pi15 UTSW 1 17,695,178 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCTGCCAGCCAATAACTTCACTG -3'
(R):5'- CAAGAAAGGGAAGAGTCACCTTGCC -3'

Sequencing Primer
(F):5'- TTCACTGATACTGAAGCCGC -3'
(R):5'- acaaacaaacaaacaaacaaacaaac -3'
Posted On 2013-07-11