Incidental Mutation 'R6817:Pirt'
ID 537389
Institutional Source Beutler Lab
Gene Symbol Pirt
Ensembl Gene ENSMUSG00000048070
Gene Name phosphoinositide-interacting regulator of transient receptor potential channels
Synonyms A530088H08Rik, Pirt
MMRRC Submission 044929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6817 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 66802807-66820702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66816737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 16 (E16G)
Ref Sequence ENSEMBL: ENSMUSP00000128117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123434]
AlphaFold Q8BFY0
Predicted Effect probably damaging
Transcript: ENSMUST00000123434
AA Change: E16G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128117
Gene: ENSMUSG00000048070
AA Change: E16G

DomainStartEndE-ValueType
Pfam:PIRT 5 135 8.3e-68 PFAM
Meta Mutation Damage Score 0.0985 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to thermal and capsaicin nociception. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Arhgap21 A C 2: 20,885,107 (GRCm39) L690R probably benign Het
Asxl3 A G 18: 22,656,637 (GRCm39) N1549S probably benign Het
Cast T C 13: 74,847,277 (GRCm39) T670A possibly damaging Het
Cd109 A G 9: 78,622,237 (GRCm39) D1409G probably benign Het
Cemip A G 7: 83,637,200 (GRCm39) F311S probably damaging Het
Cfap43 T A 19: 47,744,524 (GRCm39) I1210F possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cops5 G A 1: 10,100,829 (GRCm39) L256F probably benign Het
Cux1 T C 5: 136,402,027 (GRCm39) probably null Het
Dab1 A G 4: 104,536,743 (GRCm39) K178E probably damaging Het
Ddc A G 11: 11,774,854 (GRCm39) Y346H probably damaging Het
Dlg2 T G 7: 91,614,872 (GRCm39) D225E probably benign Het
Dsg1b A T 18: 20,527,462 (GRCm39) I198F probably damaging Het
Ect2l T C 10: 18,049,807 (GRCm39) H155R probably benign Het
Epha2 A G 4: 141,036,305 (GRCm39) H247R probably damaging Het
Esrp1 A G 4: 11,357,552 (GRCm39) V355A probably damaging Het
Fam78b A G 1: 166,906,419 (GRCm39) M193V possibly damaging Het
Gdpd4 A G 7: 97,607,037 (GRCm39) T4A probably benign Het
Gm17175 T C 14: 51,810,478 (GRCm39) N50D possibly damaging Het
Kcnt2 A G 1: 140,173,931 (GRCm39) probably benign Het
Lpo T C 11: 87,700,067 (GRCm39) N525D probably benign Het
Lrrc41 G A 4: 115,946,502 (GRCm39) E406K possibly damaging Het
Lrrc59 G C 11: 94,520,891 (GRCm39) D21H probably damaging Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Mroh7 C T 4: 106,571,312 (GRCm39) A14T probably benign Het
Muc5b T C 7: 141,416,650 (GRCm39) S3199P probably benign Het
Muc6 T A 7: 141,237,326 (GRCm39) Y270F probably damaging Het
Myo18b T A 5: 112,978,104 (GRCm39) T1273S probably benign Het
Nos2 A T 11: 78,836,092 (GRCm39) E385V possibly damaging Het
Nsl1 T G 1: 190,795,471 (GRCm39) probably null Het
Nup93 T C 8: 95,041,310 (GRCm39) probably null Het
Or5d45 A T 2: 88,153,107 (GRCm39) M314K probably benign Het
Pcna-ps2 T G 19: 9,260,861 (GRCm39) M40R probably damaging Het
Pik3r5 A G 11: 68,377,407 (GRCm39) E148G probably damaging Het
Pkp4 T C 2: 59,148,944 (GRCm39) Y566H probably damaging Het
Psg17 A C 7: 18,548,565 (GRCm39) V402G probably damaging Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Rassf7 A G 7: 140,797,360 (GRCm39) E191G probably damaging Het
Rnf213 T C 11: 119,353,111 (GRCm39) probably null Het
Slc34a2 C T 5: 53,221,370 (GRCm39) T272I probably damaging Het
Sos2 T C 12: 69,664,935 (GRCm39) E332G probably benign Het
Spdye4c T C 2: 128,438,430 (GRCm39) Y263H probably damaging Het
Tmprss11f C T 5: 86,704,793 (GRCm39) V42I probably benign Het
Trpv5 T A 6: 41,634,941 (GRCm39) N463Y possibly damaging Het
Ush2a A T 1: 188,595,061 (GRCm39) Q3831L probably benign Het
Wdr41 C A 13: 95,133,812 (GRCm39) probably null Het
Zfand1 A G 3: 10,405,884 (GRCm39) C246R probably benign Het
Other mutations in Pirt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Pirt APN 11 66,816,772 (GRCm39) missense probably damaging 1.00
IGL01845:Pirt APN 11 66,816,794 (GRCm39) missense probably damaging 1.00
R0617:Pirt UTSW 11 66,816,998 (GRCm39) missense probably damaging 1.00
R2567:Pirt UTSW 11 66,816,985 (GRCm39) missense probably damaging 1.00
R6818:Pirt UTSW 11 66,816,719 (GRCm39) missense possibly damaging 0.91
R7625:Pirt UTSW 11 66,816,769 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCCCCTCTACTGAGAGCC -3'
(R):5'- ATCATCCTGAGCACTTGCAC -3'

Sequencing Primer
(F):5'- CCTCTACTGAGAGCCAGGCTG -3'
(R):5'- GAGCACTTGCACAACTTTATGC -3'
Posted On 2018-10-18