Incidental Mutation 'R6271:Pnpla1'
ID 507366
Institutional Source Beutler Lab
Gene Symbol Pnpla1
Ensembl Gene ENSMUSG00000043286
Gene Name patatin-like phospholipase domain containing 1
Synonyms
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 29077385-29109283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29100342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 403 (G403E)
Ref Sequence ENSEMBL: ENSMUSP00000110385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056866] [ENSMUST00000114737]
AlphaFold Q3V1D5
Predicted Effect probably benign
Transcript: ENSMUST00000056866
AA Change: G403E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: G403E

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: G403E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: G403E

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign 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
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
R8453: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'- GACACCTGAATCTGGGTGCAAG -3'
(R):5'- TCCAAGTGTTGCCCTGGATG -3'

Sequencing Primer
(F):5'- CAAGGAGTCTGTGGAATCACCC -3'
(R):5'- TGGATGCTGTGGCTCCC -3'
Posted On 2018-03-15