Incidental Mutation 'R8185:Lpar1'
ID 634809
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 067608-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8185 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 58435255-58553898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58486509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 254 (M254K)
Ref Sequence ENSEMBL: ENSMUSP00000052581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055018] [ENSMUST00000107570] [ENSMUST00000107571] [ENSMUST00000107574] [ENSMUST00000107575] [ENSMUST00000145361] [ENSMUST00000147354] [ENSMUST00000155170]
AlphaFold P61793
Predicted Effect probably damaging
Transcript: ENSMUST00000055018
AA Change: M254K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: M254K

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 5.9e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107570
AA Change: M236K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: M236K

DomainStartEndE-ValueType
Pfam:7tm_1 48 293 2.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107571
AA Change: M254K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: M254K

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107574
AA Change: M254K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: M254K

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107575
AA Change: M254K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: M254K

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145361
Predicted Effect probably benign
Transcript: ENSMUST00000147354
Predicted Effect probably benign
Transcript: ENSMUST00000155170
SMART Domains Protein: ENSMUSP00000121440
Gene: ENSMUSG00000038668

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T C 5: 88,120,011 (GRCm39) V256A possibly damaging Het
Ackr3 G A 1: 90,141,666 (GRCm39) V42M probably benign Het
C9 T A 15: 6,520,878 (GRCm39) I441N probably damaging Het
Cd44 G A 2: 102,654,665 (GRCm39) A667V possibly damaging Het
Cdc23 T C 18: 34,774,197 (GRCm39) N322D probably benign Het
Chrm2 A G 6: 36,500,824 (GRCm39) N227S probably benign Het
Cnot1 C T 8: 96,487,979 (GRCm39) R559Q probably damaging Het
Cntnap4 A G 8: 113,391,897 (GRCm39) N121D probably damaging Het
Cog7 A G 7: 121,576,969 (GRCm39) L63P probably damaging Het
Cpne7 C T 8: 123,854,168 (GRCm39) A285V probably benign Het
Cpsf7 C T 19: 10,514,224 (GRCm39) R343* probably null Het
Cubn T G 2: 13,299,129 (GRCm39) K3181N probably benign Het
Dsg1a C T 18: 20,473,669 (GRCm39) T914I probably damaging Het
Ebf3 A T 7: 136,827,607 (GRCm39) C255S possibly damaging Het
Eif1ad5 T A 12: 87,940,433 (GRCm39) W46R noncoding transcript Het
Fasn A T 11: 120,702,969 (GRCm39) I1658N probably benign Het
Fcgr2b A G 1: 170,794,020 (GRCm39) V210A probably damaging Het
Flvcr1 G A 1: 190,747,681 (GRCm39) P305S probably damaging Het
Frem3 G T 8: 81,338,933 (GRCm39) E409* probably null Het
Gabrr2 T A 4: 33,082,330 (GRCm39) D213E probably damaging Het
Ggt1 T A 10: 75,421,040 (GRCm39) D418E possibly damaging Het
Immt C T 6: 71,849,835 (GRCm39) Q530* probably null Het
Ints10 T C 8: 69,249,370 (GRCm39) F67L possibly damaging Het
Kdm4c C T 4: 74,291,821 (GRCm39) H813Y probably benign Het
Klhl5 T A 5: 65,313,471 (GRCm39) M395K probably damaging Het
Klk1b11 T C 7: 43,426,332 (GRCm39) I49T probably damaging Het
Lmln A T 16: 32,909,690 (GRCm39) N357I probably damaging Het
Macc1 T C 12: 119,410,894 (GRCm39) V554A probably damaging Het
Melk G A 4: 44,360,965 (GRCm39) V582I probably benign Het
Mmp27 A G 9: 7,573,492 (GRCm39) T195A unknown Het
Nedd4l T C 18: 65,342,769 (GRCm39) F781L probably damaging Het
Nvl G A 1: 180,971,739 (GRCm39) probably benign Het
Nxpe4 G A 9: 48,304,509 (GRCm39) D199N possibly damaging Het
Or2k2 T C 4: 58,785,542 (GRCm39) Y60C probably damaging Het
Or8b8 A C 9: 37,809,531 (GRCm39) Y277S probably damaging Het
Ovol1 T C 19: 5,601,542 (GRCm39) D160G probably damaging Het
Ppp1r13l C T 7: 19,106,863 (GRCm39) P453S probably benign Het
Ppp1r37 C T 7: 19,266,873 (GRCm39) G373S probably damaging Het
Slc7a9 T C 7: 35,151,842 (GRCm39) S46P probably damaging Het
Sntn A G 14: 13,679,014 (GRCm38) I63V probably benign Het
Syde2 T C 3: 145,694,667 (GRCm39) V305A probably benign Het
Tpp1 A T 7: 105,398,430 (GRCm39) probably null Het
Vmn1r179 A T 7: 23,628,163 (GRCm39) N118I possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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
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'- AGAACAGTAAGCTGACATTGCC -3'
(R):5'- GATATCGATCACTGTTCCAACATGG -3'

Sequencing Primer
(F):5'- GTAAGCTGACATTGCCATAGAC -3'
(R):5'- ATGGCACCCCTCTACAGTG -3'
Posted On 2020-07-13