Incidental Mutation 'R0038:Pnpla5'
ID 32840
Institutional Source Beutler Lab
Gene Symbol Pnpla5
Ensembl Gene ENSMUSG00000018868
Gene Name patatin-like phospholipase domain containing 5
Synonyms GS2L, 4833426H19Rik
MMRRC Submission 038332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0038 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 83996557-84007376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84006714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 90 (Y90H)
Ref Sequence ENSEMBL: ENSMUSP00000155268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019012] [ENSMUST00000230566]
AlphaFold Q32LZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000019012
AA Change: Y90H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019012
Gene: ENSMUSG00000018868
AA Change: Y90H

DomainStartEndE-ValueType
Pfam:Patatin 12 180 2.6e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000230566
AA Change: Y90H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231019
Meta Mutation Damage Score 0.4501 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,863,823 (GRCm39) probably benign Het
Ankrd28 A T 14: 31,429,992 (GRCm39) M892K probably damaging Het
Arhgef25 T C 10: 127,022,734 (GRCm39) probably benign Het
Arl9 G A 5: 77,154,322 (GRCm39) E17K probably benign Het
Bbs9 G A 9: 22,415,390 (GRCm39) V105I probably benign Het
Celsr1 A T 15: 85,813,620 (GRCm39) N1997K possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cldn8 A G 16: 88,359,922 (GRCm39) M1T probably null Het
Clec11a A G 7: 43,955,906 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col19a1 A T 1: 24,598,825 (GRCm39) L56Q unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyp2b10 G A 7: 25,614,287 (GRCm39) A254T probably benign Het
Ddx39a T C 8: 84,449,127 (GRCm39) L305P probably damaging Het
Depdc5 A G 5: 33,026,197 (GRCm39) E60G probably benign Het
Eif2ak2 T A 17: 79,171,384 (GRCm39) M340L probably benign Het
Etl4 A T 2: 20,748,385 (GRCm39) H39L probably damaging Het
Fat3 T C 9: 15,826,306 (GRCm39) T4549A probably damaging Het
Fbxw28 A T 9: 109,167,608 (GRCm39) W50R probably damaging Het
Ggt7 T C 2: 155,344,701 (GRCm39) D214G probably benign Het
Gramd1b G A 9: 40,228,822 (GRCm39) T252M probably damaging Het
Grin1 T C 2: 25,187,471 (GRCm39) N613S probably null Het
Hcrtr2 A T 9: 76,166,963 (GRCm39) S125T probably benign Het
Hr T C 14: 70,805,525 (GRCm39) L1091P probably damaging Het
Htr2a T G 14: 74,943,687 (GRCm39) S422R probably benign Het
Ighmbp2 A G 19: 3,312,097 (GRCm39) S886P probably damaging Het
Iqcg C A 16: 32,866,012 (GRCm39) L110F probably benign Het
Kirrel3 T A 9: 34,823,066 (GRCm39) probably null Het
Kremen1 A C 11: 5,157,703 (GRCm39) probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Lin52 C G 12: 84,576,499 (GRCm39) L111V probably damaging Het
Myh15 T C 16: 48,891,504 (GRCm39) probably benign Het
Ncor1 A G 11: 62,283,377 (GRCm39) F437L probably damaging Het
Nlrp1b A G 11: 71,062,997 (GRCm39) S685P possibly damaging Het
Oog4 T C 4: 143,165,514 (GRCm39) D211G probably benign Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
Pdzd8 A G 19: 59,288,028 (GRCm39) I1124T possibly damaging Het
Pgm3 A T 9: 86,446,726 (GRCm39) probably benign Het
Polr1b C T 2: 128,957,588 (GRCm39) R548* probably null Het
Ptprg T A 14: 12,213,710 (GRCm38) M1026K probably damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rapgef2 T C 3: 78,976,703 (GRCm39) I1368V probably benign Het
Rnf168 T C 16: 32,117,813 (GRCm39) V458A probably benign Het
Rnf32 T C 5: 29,410,652 (GRCm39) probably benign Het
Sclt1 T C 3: 41,583,943 (GRCm39) probably benign Het
Serpina12 A G 12: 104,004,216 (GRCm39) F139L probably damaging Het
Sos2 T G 12: 69,643,467 (GRCm39) Q971P probably damaging Het
Stag3 T A 5: 138,299,298 (GRCm39) probably null Het
Stard5 T C 7: 83,285,951 (GRCm39) probably benign Het
Stard9 T A 2: 120,526,313 (GRCm39) C857S probably benign Het
Suclg1 A G 6: 73,237,486 (GRCm39) E77G probably benign Het
Trpm7 A G 2: 126,637,388 (GRCm39) S204P probably damaging Het
Ush2a G T 1: 188,358,809 (GRCm39) G2112C probably benign Het
Vmn2r15 T A 5: 109,441,010 (GRCm39) T283S possibly damaging Het
Wdr6 A T 9: 108,450,168 (GRCm39) V1120D probably damaging Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A probably benign Het
Other mutations in Pnpla5
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4151001:Pnpla5 UTSW 15 84,002,827 (GRCm39) missense probably damaging 1.00
R0038:Pnpla5 UTSW 15 84,006,714 (GRCm39) missense probably damaging 1.00
R0135:Pnpla5 UTSW 15 83,998,150 (GRCm39) missense probably damaging 1.00
R0321:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0322:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0384:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0385:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0386:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0801:Pnpla5 UTSW 15 83,998,121 (GRCm39) missense probably benign 0.45
R6410:Pnpla5 UTSW 15 84,004,880 (GRCm39) missense probably damaging 1.00
R6425:Pnpla5 UTSW 15 84,006,836 (GRCm39) splice site probably null
R6523:Pnpla5 UTSW 15 83,999,912 (GRCm39) missense possibly damaging 0.49
R8790:Pnpla5 UTSW 15 84,002,819 (GRCm39) missense probably damaging 1.00
R9030:Pnpla5 UTSW 15 83,998,087 (GRCm39) missense possibly damaging 0.76
Z1088:Pnpla5 UTSW 15 84,007,272 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATCCCGAGTGGCAAAATCGGTG -3'
(R):5'- AGCCTTTGAATCTGAGGACCCCTG -3'

Sequencing Primer
(F):5'- GGTGACTATGAAATTCTTGCCATCAG -3'
(R):5'- GGtgttttggttttgtttttgttttg -3'
Posted On 2013-05-09