Incidental Mutation 'R2323:Liph'
ID 244821
Institutional Source Beutler Lab
Gene Symbol Liph
Ensembl Gene ENSMUSG00000044626
Gene Name lipase, member H
Synonyms C130037N08Rik, Lpdlr, PLA1B, mPA-PLA1, LPDLR, D16Wsu119e
MMRRC Submission 040314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2323 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 21772567-21814408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21802754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000156378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060673] [ENSMUST00000074230] [ENSMUST00000231682] [ENSMUST00000231766]
AlphaFold Q8CIV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000060673
AA Change: V105A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: V105A

DomainStartEndE-ValueType
Pfam:Lipase 11 326 6.8e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000074230
AA Change: V105A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: V105A

DomainStartEndE-ValueType
Pfam:Lipase 15 214 1.5e-45 PFAM
Pfam:Abhydrolase_6 73 296 2.3e-6 PFAM
Pfam:Lipase 209 296 1.7e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231682
AA Change: V105A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000231766
AA Change: V105A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit wavy vibrissae and wavy and matted coats associated with impaired inner rooth sheath formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G T 2: 25,335,187 (GRCm39) M2008I probably benign Het
Adgrv1 A G 13: 81,743,298 (GRCm39) S68P probably damaging Het
Albfm1 T A 5: 90,732,711 (GRCm39) Y507* probably null Het
Anks3 T C 16: 4,768,634 (GRCm39) probably null Het
Asap2 T C 12: 21,253,969 (GRCm39) I160T probably damaging Het
Asb15 T A 6: 24,556,600 (GRCm39) F32I probably benign Het
Catip A T 1: 74,402,437 (GRCm39) M103L probably benign Het
Cela2a G C 4: 141,553,390 (GRCm39) probably benign Het
Crebrf T C 17: 26,982,581 (GRCm39) probably benign Het
Dnah10 T C 5: 124,819,064 (GRCm39) M450T probably damaging Het
Dst T C 1: 34,267,518 (GRCm39) S5165P possibly damaging Het
Esrp2 T A 8: 106,860,934 (GRCm39) D196V probably benign Het
Hmox2 A T 16: 4,583,720 (GRCm39) K263* probably null Het
Ints10 A G 8: 69,271,997 (GRCm39) H566R probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Myo1e T A 9: 70,286,040 (GRCm39) Y941* probably null Het
Myo7b T C 18: 32,104,398 (GRCm39) E1450G probably damaging Het
Myt1 G T 2: 181,448,350 (GRCm39) A594S probably damaging Het
Npas3 T A 12: 54,115,129 (GRCm39) Y666N probably damaging Het
Npsr1 A G 9: 24,211,732 (GRCm39) K240E probably damaging Het
Or52h7 T C 7: 104,213,826 (GRCm39) F133L probably benign Het
Rtkn2 A G 10: 67,837,764 (GRCm39) I102M probably damaging Het
Rundc1 T C 11: 101,316,101 (GRCm39) F58L probably damaging Het
Snrpc T G 17: 28,066,948 (GRCm39) M91R unknown Het
Tgfbr2 T C 9: 115,939,212 (GRCm39) K205R possibly damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tnfrsf21 C A 17: 43,396,420 (GRCm39) S568* probably null Het
Tulp1 C T 17: 28,581,456 (GRCm39) G239D probably damaging Het
Vmn1r234 T C 17: 21,449,965 (GRCm39) I293T probably benign Het
Vmn1r26 T C 6: 57,985,842 (GRCm39) K116E probably damaging Het
Vmn2r98 T A 17: 19,286,081 (GRCm39) I193K probably benign Het
Wnk4 T A 11: 101,159,307 (GRCm39) S575T probably damaging Het
Zfp558 A T 9: 18,380,573 (GRCm39) probably null Het
Zscan18 T C 7: 12,509,386 (GRCm39) probably benign Het
Other mutations in Liph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Liph APN 16 21,786,890 (GRCm39) missense probably damaging 1.00
babyback UTSW 16 21,802,707 (GRCm39) missense probably damaging 0.97
PIT4131001:Liph UTSW 16 21,814,119 (GRCm39) start codon destroyed probably null 0.59
R0004:Liph UTSW 16 21,802,944 (GRCm39) nonsense probably null
R0045:Liph UTSW 16 21,786,803 (GRCm39) missense probably damaging 1.00
R0045:Liph UTSW 16 21,786,803 (GRCm39) missense probably damaging 1.00
R0348:Liph UTSW 16 21,786,730 (GRCm39) splice site probably null
R0689:Liph UTSW 16 21,786,818 (GRCm39) missense probably damaging 1.00
R0715:Liph UTSW 16 21,814,100 (GRCm39) missense probably benign 0.05
R1104:Liph UTSW 16 21,802,898 (GRCm39) missense possibly damaging 0.82
R1779:Liph UTSW 16 21,786,800 (GRCm39) missense probably benign 0.01
R3913:Liph UTSW 16 21,781,009 (GRCm39) splice site probably benign
R4402:Liph UTSW 16 21,795,000 (GRCm39) missense probably damaging 1.00
R4454:Liph UTSW 16 21,803,018 (GRCm39) missense probably benign 0.11
R4672:Liph UTSW 16 21,802,806 (GRCm39) missense probably benign 0.14
R4681:Liph UTSW 16 21,802,777 (GRCm39) missense probably benign 0.02
R5111:Liph UTSW 16 21,802,820 (GRCm39) missense probably damaging 1.00
R5135:Liph UTSW 16 21,774,915 (GRCm39) nonsense probably null
R5235:Liph UTSW 16 21,802,785 (GRCm39) missense probably damaging 1.00
R5642:Liph UTSW 16 21,784,745 (GRCm39) missense possibly damaging 0.61
R5810:Liph UTSW 16 21,786,860 (GRCm39) missense probably damaging 1.00
R6188:Liph UTSW 16 21,803,018 (GRCm39) missense probably benign 0.11
R6557:Liph UTSW 16 21,802,670 (GRCm39) missense possibly damaging 0.60
R6734:Liph UTSW 16 21,802,707 (GRCm39) missense probably damaging 0.97
R7011:Liph UTSW 16 21,802,847 (GRCm39) missense probably damaging 0.98
R7038:Liph UTSW 16 21,795,009 (GRCm39) missense probably damaging 1.00
R7178:Liph UTSW 16 21,795,078 (GRCm39) missense probably damaging 1.00
R7185:Liph UTSW 16 21,814,089 (GRCm39) missense probably benign 0.00
R7198:Liph UTSW 16 21,784,772 (GRCm39) missense probably damaging 1.00
R7775:Liph UTSW 16 21,777,664 (GRCm39) missense probably damaging 1.00
R7832:Liph UTSW 16 21,780,986 (GRCm39) missense probably benign 0.01
R7993:Liph UTSW 16 21,777,562 (GRCm39) missense probably benign 0.03
R8264:Liph UTSW 16 21,802,721 (GRCm39) missense possibly damaging 0.94
R8551:Liph UTSW 16 21,800,158 (GRCm39) missense probably damaging 1.00
R9311:Liph UTSW 16 21,802,680 (GRCm39) missense probably benign 0.01
R9311:Liph UTSW 16 21,774,913 (GRCm39) missense probably damaging 1.00
R9794:Liph UTSW 16 21,774,862 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ATTCGGATTCGCACAAGGTTAC -3'
(R):5'- ACACAGAGAGACCAGACCTGTG -3'

Sequencing Primer
(F):5'- TCGGATTCGCACAAGGTTACAAAATG -3'
(R):5'- GAGACCAGACCTGTGCACAG -3'
Posted On 2014-10-30