Incidental Mutation 'R4957:Pnliprp2'
ID 381688
Institutional Source Beutler Lab
Gene Symbol Pnliprp2
Ensembl Gene ENSMUSG00000025091
Gene Name pancreatic lipase-related protein 2
Synonyms PLRP2
MMRRC Submission 042554-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4957 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 58748155-58765966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58763577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 409 (L409F)
Ref Sequence ENSEMBL: ENSMUSP00000026081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026081]
AlphaFold P17892
Predicted Effect possibly damaging
Transcript: ENSMUST00000026081
AA Change: L409F

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026081
Gene: ENSMUSG00000025091
AA Change: L409F

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Lipase 31 367 4.1e-166 PFAM
LH2 370 482 7.49e-27 SMART
Meta Mutation Damage Score 0.3445 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (80/81)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
6820408C15Rik T A 2: 152,286,013 (GRCm39) V342D probably damaging Het
Arhgap33 C T 7: 30,231,786 (GRCm39) G101R probably damaging Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Cacnb4 T C 2: 52,448,303 (GRCm39) H8R probably damaging Het
Ccdc150 T A 1: 54,404,027 (GRCm39) probably benign Het
Cd74 A G 18: 60,942,109 (GRCm39) N113D probably benign Het
Cdc25b T C 2: 131,035,525 (GRCm39) V341A possibly damaging Het
Clptm1l T A 13: 73,759,315 (GRCm39) I245N possibly damaging Het
Clptm1l T C 13: 73,760,547 (GRCm39) I310T probably damaging Het
Creb5 A T 6: 53,670,907 (GRCm39) probably null Het
Crebbp T C 16: 3,935,231 (GRCm39) Q460R probably benign Het
Dnah17 A T 11: 117,965,124 (GRCm39) I2306N probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Elovl1 A T 4: 118,289,120 (GRCm39) H215L probably damaging Het
Enkd1 A G 8: 106,431,121 (GRCm39) I202T probably benign Het
Epha7 C T 4: 28,871,892 (GRCm39) A407V probably damaging Het
Ercc3 G T 18: 32,376,170 (GRCm39) G130W probably damaging Het
Fbxl8 A G 8: 105,994,827 (GRCm39) E113G probably damaging Het
Frmpd1 T G 4: 45,273,099 (GRCm39) N339K probably damaging Het
Frrs1 G A 3: 116,678,897 (GRCm39) D240N probably benign Het
Gemin2 A G 12: 59,063,954 (GRCm39) S105G probably benign Het
Glra1 T A 11: 55,418,224 (GRCm39) I257F probably damaging Het
Gmcl1 G A 6: 86,687,503 (GRCm39) P354S probably damaging Het
Gpr15 G T 16: 58,538,537 (GRCm39) A184E probably damaging Het
Grm7 G A 6: 111,335,824 (GRCm39) G745E probably damaging Het
H2-T10 T A 17: 36,428,308 (GRCm39) probably benign Het
Hdac5 C A 11: 102,096,082 (GRCm39) probably benign Het
Ift22 G A 5: 136,937,070 (GRCm39) probably benign Het
Ighg3 T C 12: 113,324,750 (GRCm39) E34G unknown Het
Itga11 A T 9: 62,674,930 (GRCm39) T821S probably benign Het
Lmod2 T C 6: 24,603,871 (GRCm39) V282A possibly damaging Het
Maml2 A G 9: 13,531,572 (GRCm39) K262R probably damaging Het
Mme T A 3: 63,250,910 (GRCm39) probably benign Het
Mnat1 A G 12: 73,170,652 (GRCm39) Y14C probably damaging Het
Mtdh A T 15: 34,083,281 (GRCm39) T34S possibly damaging Het
Ncaph T C 2: 126,963,177 (GRCm39) D352G possibly damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4f17-ps1 C A 2: 111,358,569 (GRCm39) N321K probably benign Het
Or5m9b T A 2: 85,905,854 (GRCm39) Y257N probably damaging Het
Or9g8 T C 2: 85,607,459 (GRCm39) F177S probably damaging Het
Pcdhb13 T A 18: 37,577,837 (GRCm39) D738E possibly damaging Het
Pla2g4f C T 2: 120,130,980 (GRCm39) R825Q probably benign Het
Prlr G T 15: 10,319,281 (GRCm39) C70F probably damaging Het
Ptpn14 C T 1: 189,583,469 (GRCm39) T772I probably benign Het
Ryr2 T C 13: 11,799,966 (GRCm39) Q927R probably damaging Het
Scarf1 A G 11: 75,416,460 (GRCm39) E634G probably benign Het
Scart1 T C 7: 139,808,435 (GRCm39) V782A probably damaging Het
Skic3 T G 13: 76,333,232 (GRCm39) probably null Het
Slc39a14 A T 14: 70,553,260 (GRCm39) S158R probably damaging Het
Slc9c1 A T 16: 45,365,194 (GRCm39) T176S probably benign Het
Srsf10 T C 4: 135,583,541 (GRCm39) S2P probably damaging Het
Tcam1 T A 11: 106,173,705 (GRCm39) C50S probably damaging Het
Tcf7l2 A G 19: 55,919,864 (GRCm39) probably null Het
Tdrd3 T A 14: 87,743,223 (GRCm39) H390Q probably benign Het
Tlk2 T C 11: 105,144,185 (GRCm39) probably null Het
Tnc G C 4: 63,894,793 (GRCm39) P1531R probably damaging Het
Tnfrsf1b C A 4: 144,973,327 (GRCm39) Q15H probably damaging Het
Tnfrsf1b T G 4: 144,973,328 (GRCm39) Q15P possibly damaging Het
Tssk4 A T 14: 55,889,266 (GRCm39) E264V probably damaging Het
Ugt3a1 G A 15: 9,365,274 (GRCm39) V296I probably benign Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r8 T G 5: 108,947,129 (GRCm39) E541A probably benign Het
Ybx1 A T 4: 119,136,135 (GRCm39) probably benign Het
Zfp39 T A 11: 58,782,057 (GRCm39) Y235F possibly damaging Het
Zfp422 T A 6: 116,603,904 (GRCm39) K32* probably null Het
Zpbp2 T A 11: 98,442,150 (GRCm39) probably null Het
Other mutations in Pnliprp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Pnliprp2 APN 19 58,748,929 (GRCm39) missense probably benign
IGL02739:Pnliprp2 APN 19 58,748,941 (GRCm39) critical splice donor site probably null
IGL02881:Pnliprp2 APN 19 58,759,878 (GRCm39) missense probably benign 0.01
IGL03411:Pnliprp2 APN 19 58,748,847 (GRCm39) missense probably benign
R0140:Pnliprp2 UTSW 19 58,754,795 (GRCm39) missense probably benign 0.00
R0558:Pnliprp2 UTSW 19 58,762,519 (GRCm39) missense probably benign 0.00
R1873:Pnliprp2 UTSW 19 58,751,821 (GRCm39) missense probably benign 0.00
R1874:Pnliprp2 UTSW 19 58,751,821 (GRCm39) missense probably benign 0.00
R1875:Pnliprp2 UTSW 19 58,751,821 (GRCm39) missense probably benign 0.00
R2382:Pnliprp2 UTSW 19 58,757,062 (GRCm39) missense probably benign 0.00
R3893:Pnliprp2 UTSW 19 58,754,705 (GRCm39) missense probably benign 0.19
R3915:Pnliprp2 UTSW 19 58,748,794 (GRCm39) missense probably damaging 1.00
R4620:Pnliprp2 UTSW 19 58,750,718 (GRCm39) missense possibly damaging 0.67
R4893:Pnliprp2 UTSW 19 58,759,853 (GRCm39) missense probably benign 0.08
R4959:Pnliprp2 UTSW 19 58,754,750 (GRCm39) missense probably benign 0.16
R4973:Pnliprp2 UTSW 19 58,754,750 (GRCm39) missense probably benign 0.16
R5346:Pnliprp2 UTSW 19 58,748,232 (GRCm39) missense probably benign
R6049:Pnliprp2 UTSW 19 58,748,884 (GRCm39) missense possibly damaging 0.77
R6228:Pnliprp2 UTSW 19 58,751,874 (GRCm39) critical splice donor site probably null
R6394:Pnliprp2 UTSW 19 58,750,030 (GRCm39) missense probably benign
R6829:Pnliprp2 UTSW 19 58,748,305 (GRCm39) missense probably benign
R7235:Pnliprp2 UTSW 19 58,763,659 (GRCm39) missense probably benign 0.03
R7534:Pnliprp2 UTSW 19 58,763,574 (GRCm39) missense probably benign
R7834:Pnliprp2 UTSW 19 58,762,591 (GRCm39) missense probably benign 0.25
R8015:Pnliprp2 UTSW 19 58,754,714 (GRCm39) missense probably damaging 0.99
R8508:Pnliprp2 UTSW 19 58,751,806 (GRCm39) missense probably damaging 1.00
R9000:Pnliprp2 UTSW 19 58,762,555 (GRCm39) missense probably benign 0.00
R9560:Pnliprp2 UTSW 19 58,762,523 (GRCm39) missense possibly damaging 0.94
X0058:Pnliprp2 UTSW 19 58,762,574 (GRCm39) missense possibly damaging 0.59
Z1088:Pnliprp2 UTSW 19 58,750,757 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGGCATCTTTCAACCAAAG -3'
(R):5'- GTCAGATACGTACTCTTTCCCG -3'

Sequencing Primer
(F):5'- GTCCTGTAGCAAACTTAGAGCTC -3'
(R):5'- GTCTTTACCGCGTTGCACTGTG -3'
Posted On 2016-04-27