Incidental Mutation 'R4762:Lpar1'
ID 356939
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 042403-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4762 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 58435255-58553898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 58437346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 361 (H361P)
Ref Sequence ENSEMBL: ENSMUSP00000103201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055018] [ENSMUST00000107570] [ENSMUST00000107571] [ENSMUST00000107574] [ENSMUST00000107575]
AlphaFold P61793
Predicted Effect possibly damaging
Transcript: ENSMUST00000055018
AA Change: H361P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: H361P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 5.9e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107570
AA Change: H343P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: H343P

DomainStartEndE-ValueType
Pfam:7tm_1 48 293 2.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107571
AA Change: H361P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: H361P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107574
AA Change: H361P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: H361P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107575
AA Change: H361P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: H361P

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175552
Meta Mutation Damage Score 0.1067 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (86/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik T C 1: 158,797,126 (GRCm39) noncoding transcript Het
2310030G06Rik T C 9: 50,651,967 (GRCm39) E87G probably damaging Het
Aknad1 A T 3: 108,682,547 (GRCm39) H541L possibly damaging Het
Asb15 A G 6: 24,567,236 (GRCm39) E519G possibly damaging Het
Atad2 T C 15: 57,971,758 (GRCm39) D373G probably benign Het
Bbs12 G A 3: 37,374,529 (GRCm39) V326M probably damaging Het
Birc6 T C 17: 74,936,484 (GRCm39) I2617T probably damaging Het
Brca2 A G 5: 150,454,581 (GRCm39) T115A probably benign Het
Casz1 T C 4: 149,023,438 (GRCm39) L495P probably damaging Het
Ccdc30 T A 4: 119,190,785 (GRCm39) I481F probably damaging Het
Cept1 A T 3: 106,446,677 (GRCm39) Y56* probably null Het
Cfap54 A C 10: 92,897,315 (GRCm39) probably null Het
Cyp2j8 G T 4: 96,358,886 (GRCm39) D344E probably damaging Het
Dido1 A T 2: 180,331,368 (GRCm39) W27R probably damaging Het
Disp3 A G 4: 148,356,575 (GRCm39) I95T probably damaging Het
Engase G T 11: 118,377,920 (GRCm39) V237F possibly damaging Het
Ephb6 G A 6: 41,595,094 (GRCm39) E703K probably damaging Het
Fnip1 T A 11: 54,356,997 (GRCm39) F35L probably damaging Het
Fnip1 A T 11: 54,390,352 (GRCm39) T440S probably benign Het
Fras1 T A 5: 96,879,477 (GRCm39) H2431Q probably benign Het
Fzd4 A T 7: 89,056,924 (GRCm39) T324S probably damaging Het
Gm10192 C G 4: 97,071,345 (GRCm39) S20T probably null Het
Gpr84 A T 15: 103,217,027 (GRCm39) V350E probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Gtpbp6 T C 5: 110,252,186 (GRCm39) T449A probably damaging Het
Herc2 G A 7: 55,820,388 (GRCm39) V2876I probably benign Het
Hnrnpa3 A G 2: 75,492,351 (GRCm39) I152V possibly damaging Het
Hpse2 T C 19: 42,777,510 (GRCm39) D552G possibly damaging Het
Itfg1 A G 8: 86,459,070 (GRCm39) V460A possibly damaging Het
Jhy G A 9: 40,822,494 (GRCm39) A548V probably benign Het
Klhl21 T A 4: 152,094,268 (GRCm39) L290Q possibly damaging Het
Knl1 T C 2: 118,902,417 (GRCm39) S1373P probably benign Het
Kpna2 A C 11: 106,881,085 (GRCm39) M426R probably benign Het
Krt9 C T 11: 100,081,675 (GRCm39) V285I probably damaging Het
Macf1 T C 4: 123,349,237 (GRCm39) T2100A probably benign Het
Mfsd13b T C 7: 120,590,549 (GRCm39) F97L probably damaging Het
Mmp15 A G 8: 96,098,958 (GRCm39) K595R probably benign Het
Mrps25 C T 6: 92,152,085 (GRCm39) G145D probably damaging Het
Muc4 T A 16: 32,574,916 (GRCm39) probably benign Het
Napa A T 7: 15,849,196 (GRCm39) K245N probably benign Het
Or10p1 C A 10: 129,444,043 (GRCm39) M102I probably damaging Het
Or14c39 A G 7: 86,344,329 (GRCm39) T222A probably benign Het
Or2y1c A T 11: 49,361,112 (GRCm39) I45F probably damaging Het
Or4g17 G A 2: 111,210,082 (GRCm39) V246M probably damaging Het
Or4k39 T A 2: 111,239,225 (GRCm39) noncoding transcript Het
Or5au1 T A 14: 52,272,921 (GRCm39) I216F possibly damaging Het
Or8c20 A G 9: 38,260,577 (GRCm39) Y60C probably damaging Het
Or8k35 A G 2: 86,424,381 (GRCm39) S264P possibly damaging Het
Papss2 A T 19: 32,616,378 (GRCm39) T195S probably benign Het
Parp4 T A 14: 56,848,267 (GRCm39) H694Q probably damaging Het
Patj C T 4: 98,293,807 (GRCm39) R20* probably null Het
Pcdhgb8 T A 18: 37,895,419 (GRCm39) V163E probably damaging Het
Pkd2l1 T A 19: 44,144,060 (GRCm39) T338S probably benign Het
Ppargc1b A T 18: 61,444,328 (GRCm39) S278R possibly damaging Het
Ppl T C 16: 4,906,846 (GRCm39) T1150A probably benign Het
Ralgds A G 2: 28,442,164 (GRCm39) D858G probably damaging Het
Rassf2 G A 2: 131,844,783 (GRCm39) probably benign Het
Ring1 T C 17: 34,240,971 (GRCm39) probably benign Het
Rusc1 A C 3: 88,998,949 (GRCm39) S278A probably benign Het
Samd9l T C 6: 3,375,623 (GRCm39) N546S probably benign Het
Sct A C 7: 140,858,954 (GRCm39) probably benign Het
Slc22a12 T G 19: 6,588,474 (GRCm39) H348P probably benign Het
Slc25a15 A G 8: 22,873,248 (GRCm39) S143P probably damaging Het
Slc26a11 C A 11: 119,247,657 (GRCm39) probably benign Het
Slc6a20b A G 9: 123,427,625 (GRCm39) M428T probably damaging Het
Smim17 G A 7: 6,432,321 (GRCm39) V88M probably damaging Het
Smoc1 G T 12: 81,214,425 (GRCm39) W269L probably damaging Het
Sox5 C T 6: 143,807,109 (GRCm39) probably null Het
Sp100 A G 1: 85,629,179 (GRCm39) *483W probably null Het
Sptbn5 T A 2: 119,907,703 (GRCm39) noncoding transcript Het
Sun5 G A 2: 153,707,283 (GRCm39) R132* probably null Het
Tedc2 A G 17: 24,435,354 (GRCm39) V345A probably benign Het
Tlr6 T A 5: 65,111,739 (GRCm39) R389S probably benign Het
Ttc17 G T 2: 94,202,113 (GRCm39) H396Q probably damaging Het
Ttn A G 2: 76,773,383 (GRCm39) S2340P probably damaging Het
Vmn1r219 C T 13: 23,346,999 (GRCm39) Q63* probably null Het
Vmn1r224 A G 17: 20,639,902 (GRCm39) T160A possibly damaging Het
Vmn2r11 T C 5: 109,195,436 (GRCm39) N630S probably damaging Het
Zfp1005 T A 2: 150,109,549 (GRCm39) C80S possibly damaging Het
Zfp747 A G 7: 126,973,498 (GRCm39) V224A possibly damaging Het
Zfp804b T C 5: 6,822,250 (GRCm39) N271S 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
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
Predicted Primers PCR Primer
(F):5'- ATGGGGCCTGCCAAATAAATTC -3'
(R):5'- CCTGGCCTATGAGAAGTTCTTC -3'

Sequencing Primer
(F):5'- GGGCCTGCCAAATAAATTCATCCTC -3'
(R):5'- CGAGTTCAACTCTGCTATGAAC -3'
Posted On 2015-11-11