Incidental Mutation 'R1875:Pnliprp2'
ID 211193
Institutional Source Beutler Lab
Gene Symbol Pnliprp2
Ensembl Gene ENSMUSG00000025091
Gene Name pancreatic lipase-related protein 2
Synonyms PLRP2
MMRRC Submission 039897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1875 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 58748155-58765966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58751821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 189 (V189L)
Ref Sequence ENSEMBL: ENSMUSP00000026081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026081]
AlphaFold P17892
Predicted Effect probably benign
Transcript: ENSMUST00000026081
AA Change: V189L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026081
Gene: ENSMUSG00000025091
AA Change: V189L

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 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 98% (85/87)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,847,190 (GRCm39) M685L possibly damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam26a C A 8: 44,022,888 (GRCm39) V201L probably benign Het
Adamts20 G T 15: 94,229,277 (GRCm39) D947E probably benign Het
Ankrd26 A G 6: 118,517,410 (GRCm39) probably null Het
Apol11a C A 15: 77,397,766 (GRCm39) T39N possibly damaging Het
Arhgef38 T A 3: 132,839,501 (GRCm39) probably null Het
Armh4 T C 14: 49,919,815 (GRCm39) D772G probably damaging Het
Atp11b T C 3: 35,893,296 (GRCm39) L883P probably damaging Het
Btnl10 T A 11: 58,814,586 (GRCm39) I422N probably damaging Het
C2cd3 A G 7: 100,056,232 (GRCm39) K547E possibly damaging Het
Cdh2 T A 18: 16,757,934 (GRCm39) L549F probably benign Het
Celsr3 T C 9: 108,713,037 (GRCm39) V1825A probably benign Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cimap2 G A 4: 106,470,453 (GRCm39) probably benign Het
Csmd1 T C 8: 15,979,101 (GRCm39) K2828E probably damaging Het
Ddah2 T C 17: 35,279,821 (GRCm39) F137S probably damaging Het
Ddx21 A G 10: 62,429,847 (GRCm39) I299T probably damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Elmod1 A G 9: 53,843,151 (GRCm39) I9T probably benign Het
Epha2 A G 4: 141,036,290 (GRCm39) E242G probably benign Het
Erbb3 T C 10: 128,410,335 (GRCm39) H641R possibly damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fli1 T C 9: 32,335,209 (GRCm39) M408V probably benign Het
Fmo4 T C 1: 162,631,187 (GRCm39) N260S possibly damaging Het
Fry A G 5: 150,249,597 (GRCm39) E136G probably damaging Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gm8258 A G 5: 104,924,320 (GRCm39) noncoding transcript Het
Gpr68 T A 12: 100,845,049 (GRCm39) D165V probably damaging Het
Htt T A 5: 34,951,456 (GRCm39) M139K probably benign Het
Jup A G 11: 100,263,120 (GRCm39) probably null Het
Kifc5b G A 17: 27,136,264 (GRCm39) probably null Het
Krba1 T A 6: 48,390,983 (GRCm39) probably null Het
Lamp1 G A 8: 13,217,257 (GRCm39) G89R probably damaging Het
Lrrc17 C T 5: 21,765,650 (GRCm39) S44F possibly damaging Het
Mdga1 T C 17: 30,071,581 (GRCm39) T347A probably damaging Het
Mical3 A T 6: 121,019,025 (GRCm39) W66R probably damaging Het
Mpl A G 4: 118,314,026 (GRCm39) Y73H probably benign Het
Mterf1b T A 5: 4,247,364 (GRCm39) I335N possibly damaging Het
Mylk3 A G 8: 86,079,494 (GRCm39) I388T probably damaging Het
Myo15a C T 11: 60,398,354 (GRCm39) R2775W probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Ndrg1 T C 15: 66,802,940 (GRCm39) T137A possibly damaging Het
Neil3 G T 8: 54,052,454 (GRCm39) N381K probably damaging Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Or2b4 A G 17: 38,115,996 (GRCm39) probably benign Het
Or6b6 G A 7: 106,571,389 (GRCm39) S54F possibly damaging Het
Otogl T C 10: 107,735,451 (GRCm39) D111G probably damaging Het
Parp10 T C 15: 76,127,051 (GRCm39) E103G probably damaging Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Pcdh18 A T 3: 49,709,154 (GRCm39) F720L probably damaging Het
Phf3 T C 1: 30,869,704 (GRCm39) E448G possibly damaging Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Pik3c2a A T 7: 116,017,206 (GRCm39) S184T probably benign Het
Pkd1l1 A G 11: 8,794,670 (GRCm39) probably benign Het
Plch2 G A 4: 155,082,965 (GRCm39) S485F probably damaging Het
Plxnd1 G T 6: 115,955,045 (GRCm39) probably null Het
Prl8a2 T C 13: 27,535,037 (GRCm39) V103A probably benign Het
Psg23 G A 7: 18,344,375 (GRCm39) T360I probably benign Het
Rad51c A T 11: 87,279,469 (GRCm39) I323N probably damaging Het
Rsbn1l C T 5: 21,156,696 (GRCm39) E30K probably benign Het
Serpina3c C A 12: 104,118,145 (GRCm39) L64F probably damaging Het
Shroom1 A G 11: 53,356,502 (GRCm39) D392G probably damaging Het
Slc26a5 T A 5: 22,020,725 (GRCm39) I540L probably benign Het
Slc37a4 A G 9: 44,312,808 (GRCm39) T321A probably damaging Het
Slc41a2 A G 10: 83,091,949 (GRCm39) L438S probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Spef2 C T 15: 9,597,487 (GRCm39) G1390R possibly damaging Het
Spmap2l A T 5: 77,202,431 (GRCm39) K284M probably benign Het
Synj2 G T 17: 6,078,825 (GRCm39) A740S possibly damaging Het
Tigd4 A C 3: 84,502,394 (GRCm39) D437A probably benign Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem106a CAGCTCAACACGACGGTA CAGCTCAACACGACGGTAAGCTCAACACGACGGTA 11: 101,477,204 (GRCm39) probably benign Het
Tmem131l A T 3: 83,812,383 (GRCm39) C1313* probably null Het
Tmem86b A T 7: 4,632,698 (GRCm39) I47N possibly damaging Het
Tspan13 T C 12: 36,070,550 (GRCm39) probably null Het
Vps54 A G 11: 21,250,251 (GRCm39) T396A probably benign Het
Zfp106 A T 2: 120,344,096 (GRCm39) probably null Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null Het
Zfp809 A T 9: 22,150,027 (GRCm39) R175* 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
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
R4957:Pnliprp2 UTSW 19 58,763,577 (GRCm39) missense possibly damaging 0.72
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'- CATGTAGGAGCAGGGAATCTTTTC -3'
(R):5'- TCAGGACATCACCTAATATAAGGAGG -3'

Sequencing Primer
(F):5'- GGAATCTTTTCCCCTGGAGTC -3'
(R):5'- CATCACCTAATATAAGGAGGAGAAGG -3'
Posted On 2014-06-30