Incidental Mutation 'R5500:Lpar1'
ID 430557
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 043061-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5500 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 58435255-58553898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58486573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 233 (R233C)
Ref Sequence ENSEMBL: ENSMUSP00000103201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055018] [ENSMUST00000107570] [ENSMUST00000107571] [ENSMUST00000107574] [ENSMUST00000107575] [ENSMUST00000145361] [ENSMUST00000147354] [ENSMUST00000155170]
AlphaFold P61793
Predicted Effect probably benign
Transcript: ENSMUST00000055018
AA Change: R233C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: R233C

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 5.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107570
AA Change: R215C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: R215C

DomainStartEndE-ValueType
Pfam:7tm_1 48 293 2.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107571
AA Change: R233C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: R233C

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107574
AA Change: R233C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: R233C

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107575
AA Change: R233C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: R233C

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: 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: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,451,508 (GRCm39) Q864L probably benign Het
AI182371 A G 2: 34,990,650 (GRCm39) S16P probably damaging Het
Amy1 A T 3: 113,356,371 (GRCm39) Y262N probably damaging Het
Cdh23 T C 10: 60,150,090 (GRCm39) D2583G probably damaging Het
Ddx60 A G 8: 62,403,485 (GRCm39) K303E probably benign Het
Dis3l2 T C 1: 86,948,841 (GRCm39) probably null Het
Evi5l T A 8: 4,241,658 (GRCm39) M329K probably damaging Het
Fam169b A G 7: 68,000,117 (GRCm39) D221G probably damaging Het
Farsb T C 1: 78,447,761 (GRCm39) D126G probably damaging Het
Gm4847 A G 1: 166,462,611 (GRCm39) I293T probably damaging Het
Ighmbp2 T C 19: 3,318,687 (GRCm39) H463R possibly damaging Het
Iigp1c G A 18: 60,379,092 (GRCm39) R209H probably damaging Het
Kank1 A T 19: 25,401,696 (GRCm39) D1101V possibly damaging Het
Kcnh8 G A 17: 53,033,008 (GRCm39) M98I probably benign Het
Kdsr A G 1: 106,687,374 (GRCm39) probably benign Het
Kif18b A T 11: 102,806,526 (GRCm39) V107E probably damaging Het
Klhl41 A G 2: 69,513,873 (GRCm39) E584G probably damaging Het
Kpnb1 G A 11: 97,063,937 (GRCm39) A389V possibly damaging Het
Krtap31-2 A G 11: 99,827,173 (GRCm39) T2A possibly damaging Het
Lama3 A T 18: 12,589,821 (GRCm39) I784F possibly damaging Het
Neb C A 2: 52,052,079 (GRCm39) probably null Het
Neo1 A G 9: 58,824,337 (GRCm39) I697T possibly damaging Het
Ntaq1 T C 15: 58,016,006 (GRCm39) V85A possibly damaging Het
Pgm2l1 T G 7: 99,917,340 (GRCm39) S486A probably benign Het
Prpf40a A T 2: 53,035,296 (GRCm39) S748R probably benign Het
Recql4 A G 15: 76,589,778 (GRCm39) probably benign Het
Rhbdl1 T C 17: 26,055,528 (GRCm39) T20A possibly damaging Het
Ric8a T C 7: 140,438,228 (GRCm39) Y156H probably benign Het
Rnf111 C A 9: 70,383,325 (GRCm39) G203C possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc2a12 G A 10: 22,541,036 (GRCm39) G297E probably damaging Het
Slc35f1 A T 10: 52,809,318 (GRCm39) I102F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slitrk3 T C 3: 72,957,680 (GRCm39) Y364C probably damaging Het
Tdrd9 T C 12: 111,989,702 (GRCm39) Y505H probably benign Het
Tlr1 G T 5: 65,084,441 (GRCm39) D45E probably benign Het
Upp1 G A 11: 9,081,774 (GRCm39) V104M probably damaging Het
Usp9y A G Y: 1,341,875 (GRCm39) V1330A probably damaging Het
Zbed5 T A 5: 129,930,823 (GRCm39) Y257* 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
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'- CTGCATAGACACCTGGTGAATG -3'
(R):5'- TCATCTGGACTATGGCCATTG -3'

Sequencing Primer
(F):5'- TGTTCACATTCTTGTTTACTACGATC -3'
(R):5'- CATCTGGACTATGGCCATTGTGATG -3'
Posted On 2016-10-05