Incidental Mutation 'IGL01735:Lpar1'
ID105666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpar1
Ensembl Gene ENSMUSG00000038668
Gene Namelysophosphatidic acid receptor 1
SynonymsGpcr26, vzg-1, Kdt2, Edg2, LPA1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01735
Quality Score
Status
Chromosome4
Chromosomal Location58435255-58553898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58437407 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 341 (S341P)
Ref Sequence ENSEMBL: ENSMUSP00000103201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055018] [ENSMUST00000107570] [ENSMUST00000107571] [ENSMUST00000107574] [ENSMUST00000107575]
Predicted Effect probably damaging
Transcript: ENSMUST00000055018
AA Change: S341P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: S341P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 5.9e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107570
AA Change: S323P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: S323P

DomainStartEndE-ValueType
Pfam:7tm_1 48 293 2.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107571
AA Change: S341P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: S341P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107574
AA Change: S341P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: S341P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107575
AA Change: S341P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: S341P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175552
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mutations cause partial peri- and postnatal lethality, growth defects, craniofacial anomalies, and wide set eyes. Additional phenotypes include altered brain 5-HT and amino acids, reduced prepulse inhibition, impaired suckling, and increased apoptosis in sciatic nerve Schwann cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A T 12: 4,201,213 M612L probably benign Het
Adhfe1 C A 1: 9,548,148 T19K possibly damaging Het
Atxn1 C T 13: 45,566,722 V566M probably damaging Het
Bag6 T C 17: 35,145,761 probably benign Het
Cdkl1 T G 12: 69,750,740 Y258S probably benign Het
Chil6 A T 3: 106,388,688 probably null Het
Clcn7 T C 17: 25,151,116 F326L probably benign Het
Cngb3 A G 4: 19,415,648 Y386C probably damaging Het
Dnah6 C A 6: 73,076,660 E2916* probably null Het
Dnhd1 A G 7: 105,713,754 E3841G probably benign Het
Fat1 G T 8: 45,036,239 V3493L probably benign Het
Gm13103 A G 4: 143,851,831 I220M probably damaging Het
Irx5 A T 8: 92,360,703 H421L probably damaging Het
Kbtbd6 T C 14: 79,453,449 V465A probably damaging Het
Kcp T A 6: 29,498,879 N340I probably damaging Het
Klhdc2 A G 12: 69,300,279 M73V probably benign Het
Lrba G A 3: 86,327,661 V838I probably benign Het
Med12l A G 3: 59,263,254 I1652V probably damaging Het
Myo5c A T 9: 75,301,438 D1677V probably damaging Het
Ncoa2 A T 1: 13,164,903 N935K probably benign Het
Nfrkb T C 9: 31,410,139 S711P possibly damaging Het
Olfr1140 A G 2: 87,746,306 I37V probably benign Het
Olfr352 C A 2: 36,869,686 T40K possibly damaging Het
Olfr608 T C 7: 103,470,323 F95L probably damaging Het
Prl7d1 A G 13: 27,714,389 F47L possibly damaging Het
Ptprd A C 4: 76,136,820 probably null Het
Rsph14 C A 10: 75,025,160 G103C probably damaging Het
Slco1a4 A G 6: 141,817,751 F413S probably benign Het
Slfn9 A G 11: 82,982,332 Y582H probably damaging Het
Tcirg1 A T 19: 3,904,210 probably benign Het
Trac G A 14: 54,222,981 probably benign Het
Wbp2nl G T 15: 82,313,816 V185L probably benign Het
Other mutations in Lpar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
bijou UTSW 4 58487155 missense possibly damaging 0.81
frenzied UTSW 4 58437346 missense possibly damaging 0.94
helper UTSW 4 58486875 missense possibly damaging 0.95
R0403:Lpar1 UTSW 4 58487191 missense probably damaging 1.00
R1793:Lpar1 UTSW 4 58486798 nonsense probably null
R2312:Lpar1 UTSW 4 58487168 nonsense probably null
R4279:Lpar1 UTSW 4 58487115 missense possibly damaging 0.73
R4762:Lpar1 UTSW 4 58437346 missense possibly damaging 0.94
R5391:Lpar1 UTSW 4 58486902 missense probably damaging 1.00
R5500:Lpar1 UTSW 4 58486573 missense probably benign 0.26
R5619:Lpar1 UTSW 4 58487155 missense possibly damaging 0.81
R6208:Lpar1 UTSW 4 58504630 nonsense probably null
R6304:Lpar1 UTSW 4 58487013 missense probably damaging 1.00
R6464:Lpar1 UTSW 4 58486875 missense possibly damaging 0.95
R6593:Lpar1 UTSW 4 58486605 missense probably damaging 1.00
R7267:Lpar1 UTSW 4 58486857 missense possibly damaging 0.89
Posted On2014-01-21