Incidental Mutation 'IGL01735:Lpar1'
ID 105666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpar1
Ensembl Gene ENSMUSG00000038668
Gene Name lysophosphatidic acid receptor 1
Synonyms Edg2, LPA1, vzg-1, Kdt2, Gpcr26
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01735
Quality Score
Status
Chromosome 4
Chromosomal Location 58435255-58553898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58437407 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P61793
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: 4,251,213 (GRCm39) M612L probably benign Het
Adhfe1 C A 1: 9,618,373 (GRCm39) T19K possibly damaging Het
Atxn1 C T 13: 45,720,198 (GRCm39) V566M probably damaging Het
Bag6 T C 17: 35,364,737 (GRCm39) probably benign Het
Cdkl1 T G 12: 69,797,514 (GRCm39) Y258S probably benign Het
Chil6 A T 3: 106,296,004 (GRCm39) probably null Het
Clcn7 T C 17: 25,370,090 (GRCm39) F326L probably benign Het
Cngb3 A G 4: 19,415,648 (GRCm39) Y386C probably damaging Het
Dnah6 C A 6: 73,053,643 (GRCm39) E2916* probably null Het
Dnhd1 A G 7: 105,362,961 (GRCm39) E3841G probably benign Het
Fat1 G T 8: 45,489,276 (GRCm39) V3493L probably benign Het
Irx5 A T 8: 93,087,331 (GRCm39) H421L probably damaging Het
Kbtbd6 T C 14: 79,690,889 (GRCm39) V465A probably damaging Het
Kcp T A 6: 29,498,878 (GRCm39) N340I probably damaging Het
Klhdc2 A G 12: 69,347,053 (GRCm39) M73V probably benign Het
Lrba G A 3: 86,234,968 (GRCm39) V838I probably benign Het
Med12l A G 3: 59,170,675 (GRCm39) I1652V probably damaging Het
Myo5c A T 9: 75,208,720 (GRCm39) D1677V probably damaging Het
Ncoa2 A T 1: 13,235,127 (GRCm39) N935K probably benign Het
Nfrkb T C 9: 31,321,435 (GRCm39) S711P possibly damaging Het
Or1j20 C A 2: 36,759,698 (GRCm39) T40K possibly damaging Het
Or52ae7 T C 7: 103,119,530 (GRCm39) F95L probably damaging Het
Or5w16 A G 2: 87,576,650 (GRCm39) I37V probably benign Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Prl7d1 A G 13: 27,898,372 (GRCm39) F47L possibly damaging Het
Ptprd A C 4: 76,055,057 (GRCm39) probably null Het
Rsph14 C A 10: 74,860,992 (GRCm39) G103C probably damaging Het
Slco1a4 A G 6: 141,763,477 (GRCm39) F413S probably benign Het
Slfn9 A G 11: 82,873,158 (GRCm39) Y582H probably damaging Het
Tcirg1 A T 19: 3,954,210 (GRCm39) probably benign Het
Trac G A 14: 54,460,438 (GRCm39) probably benign Het
Wbp2nl G T 15: 82,198,017 (GRCm39) V185L probably benign Het
Other mutations in Lpar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
bijou UTSW 4 58,487,155 (GRCm39) missense possibly damaging 0.81
frenzied UTSW 4 58,437,346 (GRCm39) missense possibly damaging 0.94
helper UTSW 4 58,486,875 (GRCm39) missense possibly damaging 0.95
R0403:Lpar1 UTSW 4 58,487,191 (GRCm39) missense probably damaging 1.00
R1793:Lpar1 UTSW 4 58,486,798 (GRCm39) nonsense probably null
R2312:Lpar1 UTSW 4 58,487,168 (GRCm39) nonsense probably null
R4279:Lpar1 UTSW 4 58,487,115 (GRCm39) missense possibly damaging 0.73
R4762:Lpar1 UTSW 4 58,437,346 (GRCm39) missense possibly damaging 0.94
R5391:Lpar1 UTSW 4 58,486,902 (GRCm39) missense probably damaging 1.00
R5500:Lpar1 UTSW 4 58,486,573 (GRCm39) missense probably benign 0.26
R5619:Lpar1 UTSW 4 58,487,155 (GRCm39) missense possibly damaging 0.81
R6208:Lpar1 UTSW 4 58,504,630 (GRCm39) nonsense probably null
R6304:Lpar1 UTSW 4 58,487,013 (GRCm39) missense probably damaging 1.00
R6464:Lpar1 UTSW 4 58,486,875 (GRCm39) missense possibly damaging 0.95
R6593:Lpar1 UTSW 4 58,486,605 (GRCm39) missense probably damaging 1.00
R7267:Lpar1 UTSW 4 58,486,857 (GRCm39) missense possibly damaging 0.89
R7712:Lpar1 UTSW 4 58,486,795 (GRCm39) missense probably benign 0.09
R8185:Lpar1 UTSW 4 58,486,509 (GRCm39) missense probably damaging 0.99
R8995:Lpar1 UTSW 4 58,486,954 (GRCm39) missense probably damaging 0.98
R9292:Lpar1 UTSW 4 58,486,558 (GRCm39) missense probably benign 0.03
R9787:Lpar1 UTSW 4 58,437,349 (GRCm39) missense probably benign 0.11
Posted On 2014-01-21