Incidental Mutation 'R6962:Pnpla1'
ID 541852
Institutional Source Beutler Lab
Gene Symbol Pnpla1
Ensembl Gene ENSMUSG00000043286
Gene Name patatin-like phospholipase domain containing 1
Synonyms
MMRRC Submission 045072-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # R6962 (G1)
Quality Score 208.009
Status Validated
Chromosome 17
Chromosomal Location 29077385-29109283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29097455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 207 (I207N)
Ref Sequence ENSEMBL: ENSMUSP00000110385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056866] [ENSMUST00000114737]
AlphaFold Q3V1D5
Predicted Effect probably damaging
Transcript: ENSMUST00000056866
AA Change: I207N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: I207N

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 damaging
Transcript: ENSMUST00000114737
AA Change: I207N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: I207N

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 0.2086 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 96% (74/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,150 (GRCm39) K1016E probably benign Het
Abca3 T C 17: 24,583,700 (GRCm39) F30L probably benign Het
Arhgap17 C T 7: 122,895,655 (GRCm39) G490R probably damaging Het
Arsg T A 11: 109,412,495 (GRCm39) L140H probably damaging Het
Bmp2k T A 5: 97,179,097 (GRCm39) C130* probably null Het
C4b T C 17: 34,951,140 (GRCm39) probably null Het
Cdk5r2 A G 1: 74,894,975 (GRCm39) Y240C probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Col27a1 A G 4: 63,237,738 (GRCm39) probably benign Het
Cubn G A 2: 13,352,840 (GRCm39) S1966F probably benign Het
Dnajc13 T C 9: 104,058,208 (GRCm39) Y1509C probably benign Het
Dpp4 A G 2: 62,203,174 (GRCm39) V265A probably benign Het
Dync2i1 A T 12: 116,175,398 (GRCm39) D926E probably damaging Het
Fbxl8 C A 8: 105,995,338 (GRCm39) N283K possibly damaging Het
Fev T A 1: 74,921,299 (GRCm39) Q122L probably benign Het
Fgd4 T A 16: 16,301,951 (GRCm39) probably null Het
Fnip2 A C 3: 79,396,610 (GRCm39) L439R probably damaging Het
Git1 C A 11: 77,395,469 (GRCm39) Q389K probably benign Het
Gm10509 C G 17: 21,909,833 (GRCm39) I53M possibly damaging Het
Gm5773 A T 3: 93,681,234 (GRCm39) H302L possibly damaging Het
Greb1l G T 18: 10,547,327 (GRCm39) R1515L probably damaging Het
Gsc2 T C 16: 17,732,902 (GRCm39) Y2C possibly damaging Het
H60b A G 10: 22,162,053 (GRCm39) N93D probably benign Het
Hgf G A 5: 16,820,752 (GRCm39) R633Q probably benign Het
Hmgb1 C T 5: 148,985,633 (GRCm39) probably benign Het
Hmmr T C 11: 40,598,242 (GRCm39) T657A probably damaging Het
Htt G T 5: 35,057,115 (GRCm39) probably null Het
Ift80 G A 3: 68,901,878 (GRCm39) probably benign Het
Kcnq5 G T 1: 21,576,017 (GRCm39) T229K probably damaging Het
Kcp C T 6: 29,482,839 (GRCm39) R1410Q probably benign Het
Klhl30 T G 1: 91,285,137 (GRCm39) V331G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc37 G A 11: 103,505,126 (GRCm39) P105S possibly damaging Het
Macf1 C T 4: 123,334,515 (GRCm39) R2849Q probably benign Het
Mex3b T G 7: 82,518,473 (GRCm39) S263A probably benign Het
Mrgpre A G 7: 143,334,799 (GRCm39) S235P probably damaging Het
Myh14 A T 7: 44,307,363 (GRCm39) V226D probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nudt8 G T 19: 4,051,831 (GRCm39) L147F probably damaging Het
Or2aj5 T A 16: 19,424,672 (GRCm39) I249L probably benign Het
Or52e8 T A 7: 104,624,580 (GRCm39) N208I probably benign Het
Or5w17 A G 2: 87,584,071 (GRCm39) Y89H probably benign Het
Or6z7 A T 7: 6,484,008 (GRCm39) I49N probably benign Het
P4htm C A 9: 108,456,394 (GRCm39) A469S possibly damaging Het
Pld4 A T 12: 112,733,288 (GRCm39) H288L probably benign Het
Ppcs T G 4: 119,279,375 (GRCm39) N59T probably damaging Het
Ppm1k A T 6: 57,492,645 (GRCm39) C214S probably damaging Het
Psg25 C T 7: 18,263,679 (GRCm39) G48E probably damaging Het
Rassf7 A G 7: 140,797,503 (GRCm39) T239A possibly damaging Het
Rgs3 G T 4: 62,618,952 (GRCm39) probably benign Het
Scaper T C 9: 55,767,055 (GRCm39) T465A probably benign Het
Slc4a7 G T 14: 14,746,021 (GRCm38) G405C probably damaging Het
Smpd3 T C 8: 106,991,851 (GRCm39) D234G probably benign Het
Spata31f1e T C 4: 42,793,323 (GRCm39) T270A probably damaging Het
Ssc4d A G 5: 135,991,775 (GRCm39) probably null Het
Sugct G T 13: 17,032,606 (GRCm39) probably null Het
Taok2 C A 7: 126,466,088 (GRCm39) probably null Het
Tbx20 A G 9: 24,681,036 (GRCm39) V152A probably damaging Het
Tbx4 A G 11: 85,781,085 (GRCm39) E66G probably benign Het
Thbs2 T C 17: 14,902,082 (GRCm39) E382G probably benign Het
Ticrr T G 7: 79,315,645 (GRCm39) S300A possibly damaging Het
Trim46 A G 3: 89,146,303 (GRCm39) L396P probably damaging Het
Trim56 A G 5: 137,141,501 (GRCm39) F672L probably damaging Het
Ttf2 A G 3: 100,858,453 (GRCm39) L712S probably damaging Het
Unc93b1 T G 19: 3,986,303 (GRCm39) D112E possibly damaging Het
Usp17lc T C 7: 103,068,118 (GRCm39) L471P probably benign Het
Vmn2r85 A G 10: 130,261,452 (GRCm39) I295T probably damaging Het
Vmn2r96 T G 17: 18,818,283 (GRCm39) I812S probably damaging Het
Wdr7 G A 18: 63,998,359 (GRCm39) C1102Y possibly damaging Het
Wnt9b G T 11: 103,624,515 (GRCm39) Q92K probably null Het
Zbtb26 A T 2: 37,326,106 (GRCm39) M310K possibly damaging Het
Zdhhc1 T C 8: 106,210,279 (GRCm39) H46R probably damaging Het
Zfp628 G T 7: 4,922,549 (GRCm39) R257L probably benign Het
Zfp747l1 A T 7: 126,983,487 (GRCm39) D538E possibly damaging Het
Zmat4 A G 8: 24,392,181 (GRCm39) T46A probably benign Het
Zmiz2 T A 11: 6,352,455 (GRCm39) W637R probably damaging 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
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'- ACCAACCACCATTTATCTTGGGG -3'
(R):5'- AAAACCATGGGCCCTCTGAG -3'

Sequencing Primer
(F):5'- GCAAAAGGTGTCTCTTCCATGGC -3'
(R):5'- CTCTGAGGGGAGAGGCAC -3'
Posted On 2018-11-28