Incidental Mutation 'IGL02881:Pnliprp2'
ID362813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnliprp2
Ensembl Gene ENSMUSG00000025091
Gene Namepancreatic lipase-related protein 2
SynonymsPLRP2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL02881
Quality Score
Status
Chromosome19
Chromosomal Location58759723-58777533 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58771446 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 363 (D363G)
Ref Sequence ENSEMBL: ENSMUSP00000026081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026081]
Predicted Effect probably benign
Transcript: ENSMUST00000026081
AA Change: D363G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026081
Gene: ENSMUSG00000025091
AA Change: D363G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Lipase 31 367 4.1e-166 PFAM
LH2 370 482 7.49e-27 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display deficient lipid absorbtion before weaning which results in growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,555,999 probably benign Het
Aatf A G 11: 84,471,289 probably benign Het
Asap3 A T 4: 136,239,237 H542L probably benign Het
Cyp4v3 A T 8: 45,308,716 L389H probably damaging Het
Dnah17 C T 11: 118,042,118 E3605K probably damaging Het
Fry C T 5: 150,359,051 T347M probably damaging Het
Glul C A 1: 153,907,116 T191K probably benign Het
Gm6614 T C 6: 141,972,243 R636G probably benign Het
Grsf1 A T 5: 88,673,830 L125Q probably damaging Het
Hfm1 A G 5: 106,874,252 I976T probably damaging Het
Itgb5 A G 16: 33,919,905 T462A probably benign Het
Lmna G T 3: 88,502,926 R60S possibly damaging Het
Mrpl10 T A 11: 97,047,073 V89D probably damaging Het
Muc5b C T 7: 141,857,712 T1465I unknown Het
Myh15 A C 16: 49,117,265 D743A possibly damaging Het
Noxo1 C A 17: 24,699,435 L190I probably damaging Het
Noxo1 T A 17: 24,699,436 L190Q probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1025-ps1 A G 2: 85,918,116 S64G probably benign Het
Olfr1098 A G 2: 86,922,713 V273A possibly damaging Het
Olfr1226 T A 2: 89,193,641 Y131F probably damaging Het
Olfr170 A T 16: 19,606,300 Y123N probably damaging Het
Pfkfb4 A G 9: 109,007,296 T131A probably null Het
Phf20l1 T C 15: 66,594,980 probably null Het
Prpf6 C T 2: 181,632,071 T336I probably benign Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Sae1 T G 7: 16,359,118 K221N probably damaging Het
Slc45a1 T C 4: 150,638,530 K299R probably benign Het
Smad2 C A 18: 76,299,780 probably null Het
Tmem117 T C 15: 94,879,425 F152S probably damaging Het
Tmem232 C T 17: 65,450,370 C276Y probably damaging Het
Tor1b A T 2: 30,953,853 K47* probably null Het
Ttn A G 2: 76,909,803 V3464A probably benign Het
Ube3b A G 5: 114,412,884 T870A possibly damaging Het
Zscan25 T G 5: 145,290,486 L320R probably benign Het
Other mutations in Pnliprp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Pnliprp2 APN 19 58760497 missense probably benign
IGL02739:Pnliprp2 APN 19 58760509 critical splice donor site probably null
IGL03411:Pnliprp2 APN 19 58760415 missense probably benign
R0140:Pnliprp2 UTSW 19 58766363 missense probably benign 0.00
R0558:Pnliprp2 UTSW 19 58774087 missense probably benign 0.00
R1873:Pnliprp2 UTSW 19 58763389 missense probably benign 0.00
R1874:Pnliprp2 UTSW 19 58763389 missense probably benign 0.00
R1875:Pnliprp2 UTSW 19 58763389 missense probably benign 0.00
R2382:Pnliprp2 UTSW 19 58768630 missense probably benign 0.00
R3893:Pnliprp2 UTSW 19 58766273 missense probably benign 0.19
R3915:Pnliprp2 UTSW 19 58760362 missense probably damaging 1.00
R4620:Pnliprp2 UTSW 19 58762286 missense possibly damaging 0.67
R4893:Pnliprp2 UTSW 19 58771421 missense probably benign 0.08
R4957:Pnliprp2 UTSW 19 58775145 missense possibly damaging 0.72
R4959:Pnliprp2 UTSW 19 58766318 missense probably benign 0.16
R4973:Pnliprp2 UTSW 19 58766318 missense probably benign 0.16
R5346:Pnliprp2 UTSW 19 58759800 missense probably benign
R6049:Pnliprp2 UTSW 19 58760452 missense possibly damaging 0.77
R6228:Pnliprp2 UTSW 19 58763442 critical splice donor site probably null
R6394:Pnliprp2 UTSW 19 58761598 missense probably benign
R6829:Pnliprp2 UTSW 19 58759873 missense probably benign
R7235:Pnliprp2 UTSW 19 58775227 missense probably benign 0.03
R7534:Pnliprp2 UTSW 19 58775142 missense probably benign
R7834:Pnliprp2 UTSW 19 58774159 missense probably benign 0.25
R7917:Pnliprp2 UTSW 19 58774159 missense probably benign 0.25
R8015:Pnliprp2 UTSW 19 58766282 missense probably damaging 0.99
X0058:Pnliprp2 UTSW 19 58774142 missense possibly damaging 0.59
Z1088:Pnliprp2 UTSW 19 58762325 missense probably damaging 1.00
Posted On2015-12-18