Incidental Mutation 'R5391:Lpar1'
ID 425837
Institutional Source Beutler Lab
Gene Symbol Lpar1
Ensembl Gene ENSMUSG00000038668
Gene Name lysophosphatidic acid receptor 1
Synonyms Edg2, LPA1, vzg-1, Kdt2, Gpcr26
MMRRC Submission 042963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5391 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 58435255-58553898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58486902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 105 (L105P)
Ref Sequence ENSEMBL: ENSMUSP00000103196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055018] [ENSMUST00000107570] [ENSMUST00000107571] [ENSMUST00000107574] [ENSMUST00000107575] [ENSMUST00000145361] [ENSMUST00000155170] [ENSMUST00000147354]
AlphaFold P61793
Predicted Effect probably benign
Transcript: ENSMUST00000055018
AA Change: L123P

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: L123P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 5.9e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107570
AA Change: L105P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: L105P

DomainStartEndE-ValueType
Pfam:7tm_1 48 293 2.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107571
AA Change: L123P

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: L123P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107574
AA Change: L123P

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: L123P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107575
AA Change: L123P

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: L123P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119701
Predicted Effect probably benign
Transcript: ENSMUST00000145361
Predicted Effect probably benign
Transcript: ENSMUST00000155170
SMART Domains Protein: ENSMUSP00000121440
Gene: ENSMUSG00000038668

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147354
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,855,481 (GRCm39) M38I probably null Het
Actl7a A G 4: 56,743,661 (GRCm39) T63A probably benign Het
Amfr G A 8: 94,702,676 (GRCm39) P497S probably damaging Het
Ankrd33b T C 15: 31,325,352 (GRCm39) I122V probably damaging Het
Asap1 G T 15: 63,965,901 (GRCm39) T1011K possibly damaging Het
Cbfa2t3 G A 8: 123,360,134 (GRCm39) R506* probably null Het
Ccs C G 19: 4,883,510 (GRCm39) C96S probably benign Het
Cpt1a A G 19: 3,399,260 (GRCm39) D20G probably damaging Het
Ctdspl2 G A 2: 121,834,629 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,510 (GRCm39) Y365C probably damaging Het
Dnah3 C T 7: 119,689,299 (GRCm39) M38I probably benign Het
Dnajc6 T C 4: 101,485,355 (GRCm39) probably null Het
Elac2 A G 11: 64,885,120 (GRCm39) S450G probably benign Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Il12rb2 T C 6: 67,269,404 (GRCm39) N803S probably benign Het
Itgb4 T A 11: 115,875,894 (GRCm39) M477K probably benign Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Krt78 C A 15: 101,860,263 (GRCm39) E218* probably null Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Mov10 G A 3: 104,709,849 (GRCm39) H346Y probably benign Het
Nfia A G 4: 97,671,538 (GRCm39) I83V probably damaging Het
Or5b101 G T 19: 13,005,150 (GRCm39) A181E probably damaging Het
Or6d15 T C 6: 116,559,808 (GRCm39) Y33C probably damaging Het
Pcdhgb6 T G 18: 37,875,640 (GRCm39) I116S probably damaging Het
Pdcd6ip G T 9: 113,520,586 (GRCm39) Q133K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Pik3cd A T 4: 149,743,588 (GRCm39) V207E probably damaging Het
Ptov1 T C 7: 44,513,008 (GRCm39) Q397R probably damaging Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rasl12 G T 9: 65,305,949 (GRCm39) A35S probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sec16a A G 2: 26,330,044 (GRCm39) V657A possibly damaging Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Tbce T C 13: 14,180,550 (GRCm39) I293M probably damaging Het
Tektl1 G A 10: 78,588,688 (GRCm39) Q41* probably null Het
Tmem176a T C 6: 48,821,630 (GRCm39) L204P probably damaging Het
Tmem87a A G 2: 120,193,358 (GRCm39) probably null Het
Tns1 A T 1: 74,029,568 (GRCm39) probably null Het
Usf3 T A 16: 44,037,826 (GRCm39) S769T probably benign Het
Vmn2r82 A G 10: 79,192,491 (GRCm39) T23A probably null Het
Vps26a A G 10: 62,292,526 (GRCm39) *328Q probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wwc2 A T 8: 48,316,906 (GRCm39) I729K unknown Het
Zbtb44 A G 9: 30,964,601 (GRCm39) probably null Het
Zfp800 A T 6: 28,242,992 (GRCm39) S658T probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zfp935 G T 13: 62,602,632 (GRCm39) Y189* probably null Het
Zkscan1 T A 5: 138,095,363 (GRCm39) H203Q probably benign Het
Zkscan14 T C 5: 145,132,604 (GRCm39) D309G probably benign Het
Other mutations in Lpar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01735:Lpar1 APN 4 58,437,407 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GATCGATATCACAGATGCAGTTCC -3'
(R):5'- GCGTGTTCATCATGTTGGCC -3'

Sequencing Primer
(F):5'- TGCAGTTCCAGCCCACACTG -3'
(R):5'- CCAATCTCCTGGTCATGGTGG -3'
Posted On 2016-08-04