Incidental Mutation 'R8453:Pnpla1'
ID 654898
Institutional Source Beutler Lab
Gene Symbol Pnpla1
Ensembl Gene ENSMUSG00000043286
Gene Name patatin-like phospholipase domain containing 1
Synonyms
MMRRC Submission 067904-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # R8453 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 29077385-29109283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29077873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 11 (D11E)
Ref Sequence ENSEMBL: ENSMUSP00000050123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056866] [ENSMUST00000114737]
AlphaFold Q3V1D5
Predicted Effect probably benign
Transcript: ENSMUST00000056866
AA Change: D11E

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: D11E

DomainStartEndE-ValueType
Pfam:Patatin 16 183 1.4e-14 PFAM
low complexity region 443 454 N/A INTRINSIC
low complexity region 462 479 N/A INTRINSIC
low complexity region 549 564 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114737
AA Change: D11E

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: D11E

DomainStartEndE-ValueType
Pfam:Patatin 16 183 9.3e-15 PFAM
low complexity region 443 454 N/A INTRINSIC
low complexity region 462 479 N/A INTRINSIC
low complexity region 549 564 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality; shiny, red, dry, wrinkled and non-elastic skin; reduced size and weight at birth; fail to suckle; and exhibit skin defects associated with a lack of omega-O-acylceramides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik G T 9: 101,815,884 (GRCm39) C23F possibly damaging Het
Adam29 T C 8: 56,326,196 (GRCm39) H86R possibly damaging Het
Alas1 C T 9: 106,113,721 (GRCm39) R508Q possibly damaging Het
Albfm1 A T 5: 90,714,360 (GRCm39) R123S possibly damaging Het
Ark2n T C 18: 77,761,604 (GRCm39) E236G probably damaging Het
Bmp3 G A 5: 99,003,282 (GRCm39) probably null Het
Bud13 A G 9: 46,199,499 (GRCm39) T287A probably benign Het
C3 T C 17: 57,519,643 (GRCm39) E1203G probably benign Het
Carmil2 A C 8: 106,416,843 (GRCm39) Q476P probably damaging Het
Ccdc187 T A 2: 26,166,458 (GRCm39) T707S probably damaging Het
Cfap43 A T 19: 47,735,086 (GRCm39) V1435E probably damaging Het
Chrm3 A T 13: 9,927,267 (GRCm39) *590K probably null Het
Commd1 C T 11: 22,928,503 (GRCm39) probably benign Het
Creb3l1 A T 2: 91,821,274 (GRCm39) Y314* probably null Het
Ctc1 T A 11: 68,913,275 (GRCm39) S90R probably benign Het
Dixdc1 T C 9: 50,596,186 (GRCm39) Q413R probably benign Het
Dlg5 T C 14: 24,208,213 (GRCm39) T998A probably benign Het
Dnai4 A G 4: 102,917,113 (GRCm39) I577T possibly damaging Het
Eif1ad14 C T 12: 87,886,323 (GRCm39) S102N probably benign Het
Fam89b A G 19: 5,778,903 (GRCm39) S99P possibly damaging Het
Fbxo30 A G 10: 11,166,479 (GRCm39) I400M probably benign Het
Gad1 A T 2: 70,431,057 (GRCm39) M567L probably benign Het
Gemin5 T C 11: 58,016,065 (GRCm39) S1314G probably benign Het
Gm9195 T G 14: 72,678,201 (GRCm39) I2323L probably benign Het
Gria1 T A 11: 57,133,877 (GRCm39) F585L probably damaging Het
Hbs1l A T 10: 21,185,178 (GRCm39) H200L probably benign Het
Igsf5 A G 16: 96,222,996 (GRCm39) Q360R probably benign Het
Il31ra A T 13: 112,660,717 (GRCm39) V624E probably damaging Het
Iqsec3 T C 6: 121,364,779 (GRCm39) R837G probably damaging Het
Itprid2 T C 2: 79,475,129 (GRCm39) S363P probably benign Het
Lpl A G 8: 69,348,433 (GRCm39) I221V probably damaging Het
Mcf2l T C 8: 13,034,956 (GRCm39) probably null Het
Mink1 T A 11: 70,501,154 (GRCm39) D887E possibly damaging Het
Mmp10 T G 9: 7,508,203 (GRCm39) F443C probably damaging Het
Mmrn1 T A 6: 60,965,361 (GRCm39) Y1131N probably damaging Het
Mrc2 T A 11: 105,223,137 (GRCm39) V460E probably damaging Het
Nicn1 T A 9: 108,170,572 (GRCm39) F57Y probably damaging Het
Nlrp4b A G 7: 10,449,528 (GRCm39) Y577C probably damaging Het
Nrap T C 19: 56,312,352 (GRCm39) T1535A probably damaging Het
Opa1 G A 16: 29,439,686 (GRCm39) R755H probably damaging Het
P4htm C T 9: 108,457,566 (GRCm39) probably benign Het
Phldb2 A G 16: 45,645,385 (GRCm39) S354P probably benign Het
Phykpl T C 11: 51,489,121 (GRCm39) S316P probably damaging Het
Pold2 A G 11: 5,825,104 (GRCm39) F98L probably damaging Het
Prph G A 15: 98,954,657 (GRCm39) R241Q probably benign Het
Rcl1 T C 19: 29,093,159 (GRCm39) I58T possibly damaging Het
Rps6ka2 A G 17: 7,514,151 (GRCm39) N117D probably benign Het
Sars1 G A 3: 108,336,029 (GRCm39) S331L probably benign Het
Scfd1 A C 12: 51,459,374 (GRCm39) K312Q possibly damaging Het
Senp5 A G 16: 31,808,166 (GRCm39) C363R probably benign Het
Senp7 A G 16: 56,008,691 (GRCm39) I1024V probably damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sptbn4 A G 7: 27,103,663 (GRCm39) L1191P probably damaging Het
Stk40 A G 4: 126,022,766 (GRCm39) E180G probably damaging Het
Stxbp5 A T 10: 9,684,792 (GRCm39) V536E probably benign Het
Suco A T 1: 161,650,586 (GRCm39) probably benign Het
Tex15 G T 8: 34,066,899 (GRCm39) E2110* probably null Het
Thbs4 G A 13: 92,927,325 (GRCm39) P55S probably benign Het
Tmem115 T C 9: 107,411,997 (GRCm39) V107A probably benign Het
Tnfaip6 A C 2: 51,945,879 (GRCm39) I242L probably benign Het
Trabd G T 15: 88,969,616 (GRCm39) A270S possibly damaging Het
Trim30d T A 7: 104,136,947 (GRCm39) I86F probably damaging Het
Trpc7 A G 13: 56,970,372 (GRCm39) V404A probably benign Het
Vmn1r61 A G 7: 5,613,886 (GRCm39) Y143H probably benign Het
Vmn2r18 T A 5: 151,485,373 (GRCm39) D707V probably damaging Het
Vnn3 G A 10: 23,745,443 (GRCm39) R464H probably benign Het
Wdr27 T C 17: 15,112,751 (GRCm39) T652A probably benign Het
Yeats2 C T 16: 20,041,637 (GRCm39) R1176* probably null Het
Other mutations in Pnpla1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Pnpla1 APN 17 29,096,416 (GRCm39) missense probably damaging 1.00
IGL01713:Pnpla1 APN 17 29,100,579 (GRCm39) missense possibly damaging 0.46
IGL02972:Pnpla1 APN 17 29,105,921 (GRCm39) missense probably null 0.65
IGL03350:Pnpla1 APN 17 29,095,966 (GRCm39) missense probably damaging 1.00
R0335:Pnpla1 UTSW 17 29,105,852 (GRCm39) missense possibly damaging 0.48
R1727:Pnpla1 UTSW 17 29,097,508 (GRCm39) missense probably benign 0.30
R3620:Pnpla1 UTSW 17 29,096,362 (GRCm39) missense probably damaging 1.00
R3621:Pnpla1 UTSW 17 29,096,362 (GRCm39) missense probably damaging 1.00
R4831:Pnpla1 UTSW 17 29,097,518 (GRCm39) missense probably benign 0.28
R5011:Pnpla1 UTSW 17 29,104,558 (GRCm39) missense possibly damaging 0.57
R5042:Pnpla1 UTSW 17 29,100,021 (GRCm39) missense probably benign
R5068:Pnpla1 UTSW 17 29,098,397 (GRCm39) splice site probably null
R5690:Pnpla1 UTSW 17 29,097,346 (GRCm39) missense probably damaging 1.00
R5886:Pnpla1 UTSW 17 29,095,837 (GRCm39) missense possibly damaging 0.63
R6269:Pnpla1 UTSW 17 29,100,342 (GRCm39) missense probably benign 0.00
R6270:Pnpla1 UTSW 17 29,100,342 (GRCm39) missense probably benign 0.00
R6271:Pnpla1 UTSW 17 29,100,342 (GRCm39) missense probably benign 0.00
R6272:Pnpla1 UTSW 17 29,100,342 (GRCm39) missense probably benign 0.00
R6369:Pnpla1 UTSW 17 29,097,455 (GRCm39) missense probably damaging 1.00
R6611:Pnpla1 UTSW 17 29,100,021 (GRCm39) missense probably benign
R6962:Pnpla1 UTSW 17 29,097,455 (GRCm39) missense probably damaging 1.00
R7359:Pnpla1 UTSW 17 29,100,159 (GRCm39) missense probably benign 0.25
R7400:Pnpla1 UTSW 17 29,077,950 (GRCm39) missense probably damaging 1.00
R7444:Pnpla1 UTSW 17 29,097,455 (GRCm39) missense possibly damaging 0.95
R7507:Pnpla1 UTSW 17 29,095,791 (GRCm39) missense probably damaging 1.00
R7513:Pnpla1 UTSW 17 29,077,781 (GRCm39) start gained probably benign
R8134:Pnpla1 UTSW 17 29,097,443 (GRCm39) missense probably damaging 0.99
R8271:Pnpla1 UTSW 17 29,100,579 (GRCm39) missense probably benign 0.26
R8353:Pnpla1 UTSW 17 29,077,873 (GRCm39) missense probably benign 0.20
R8880:Pnpla1 UTSW 17 29,098,438 (GRCm39) missense probably damaging 1.00
R9471:Pnpla1 UTSW 17 29,099,973 (GRCm39) missense probably benign 0.16
X0019:Pnpla1 UTSW 17 29,100,041 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- CTCAGCAGAGCTAAACAGGC -3'
(R):5'- CCAGGGTCTGTTCTGAGAAG -3'

Sequencing Primer
(F):5'- CTAAACAGGCCCAGGCAGTG -3'
(R):5'- GTCTGTTCTGAGAAGCCCCC -3'
Posted On 2020-10-20