Incidental Mutation 'R4279:Lpar1'
ID 322792
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 041079-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4279 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 58435255-58553898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58487115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 52 (V52A)
Ref Sequence ENSEMBL: ENSMUSP00000123694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055018] [ENSMUST00000107570] [ENSMUST00000107571] [ENSMUST00000107574] [ENSMUST00000107575] [ENSMUST00000147354] [ENSMUST00000155170] [ENSMUST00000145361]
AlphaFold P61793
Predicted Effect possibly damaging
Transcript: ENSMUST00000055018
AA Change: V52A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: V52A

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 5.9e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107570
AA Change: V34A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: V34A

DomainStartEndE-ValueType
Pfam:7tm_1 48 293 2.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107571
AA Change: V52A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: V52A

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107574
AA Change: V52A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: V52A

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107575
AA Change: V52A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: V52A

DomainStartEndE-ValueType
Pfam:7tm_1 66 311 1.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119701
Predicted Effect possibly damaging
Transcript: ENSMUST00000147354
AA Change: V52A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000155170
AA Change: V52A

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121440
Gene: ENSMUSG00000038668
AA Change: V52A

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145361
Meta Mutation Damage Score 0.1410 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (40/41)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T A 15: 96,269,637 (GRCm39) L1250Q probably damaging Het
Ccdc73 A T 2: 104,815,355 (GRCm39) N364Y possibly damaging Het
Ccl25 T A 8: 4,399,829 (GRCm39) L56Q probably damaging Het
Ctnnd2 C A 15: 30,905,966 (GRCm39) A871E probably damaging Het
Cyp2b23 C T 7: 26,365,452 (GRCm39) S461N possibly damaging Het
Dgat2 C A 7: 98,813,912 (GRCm39) G120V probably damaging Het
Dsp A T 13: 38,369,207 (GRCm39) I768F probably damaging Het
Dzank1 T C 2: 144,333,765 (GRCm39) E356G probably benign Het
Fam120a A T 13: 49,042,734 (GRCm39) V889D probably benign Het
Fxyd5 C A 7: 30,734,811 (GRCm39) D139Y probably null Het
Gcnt2 T C 13: 41,041,666 (GRCm39) V275A probably benign Het
Gimap4 A G 6: 48,667,511 (GRCm39) I89V probably benign Het
Gm6578 G A 6: 12,100,187 (GRCm39) noncoding transcript Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Jmy G C 13: 93,635,390 (GRCm39) P142R probably damaging Het
Jmy C A 13: 93,635,781 (GRCm39) D12Y probably damaging Het
Kif13b G T 14: 65,016,805 (GRCm39) A1324S probably damaging Het
Klhl31 T C 9: 77,563,121 (GRCm39) S629P unknown Het
Lrp5 A G 19: 3,641,778 (GRCm39) S1395P possibly damaging Het
Mogs T C 6: 83,093,048 (GRCm39) L132P probably damaging Het
Ncam1 C A 9: 49,418,259 (GRCm39) probably benign Het
Ndufs8 A T 19: 3,961,014 (GRCm39) F88I probably damaging Het
Nos2 T A 11: 78,820,602 (GRCm39) L69Q probably benign Het
Or51a6 T A 7: 102,604,292 (GRCm39) Q179L probably benign Het
Pls3 A T X: 74,846,138 (GRCm39) I192N probably benign Het
Psmd6 T C 14: 14,112,297 (GRCm38) N388S possibly damaging Het
Rrbp1 T C 2: 143,805,028 (GRCm39) T1046A probably benign Het
Scn11a T C 9: 119,583,428 (GRCm39) E1729G probably benign Het
Slc6a3 A G 13: 73,692,953 (GRCm39) D191G possibly damaging Het
Slc9a1 T C 4: 133,139,400 (GRCm39) F206S probably benign Het
Tmc5 A G 7: 118,273,886 (GRCm39) *968W probably null Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc13a T C 8: 72,119,311 (GRCm39) K9R probably damaging Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vmn1r119 T A 7: 20,745,786 (GRCm39) M199L probably benign Het
Vnn1 A T 10: 23,774,410 (GRCm39) D151V possibly damaging Het
Zfp365 A T 10: 67,733,431 (GRCm39) F254I 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
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
Predicted Primers PCR Primer
(F):5'- TCTCCGGGTATTAGGTCCTG -3'
(R):5'- AGAGTCCCAAGTGACCAGTG -3'

Sequencing Primer
(F):5'- AGGTCCTGTATTGAACATCAGG -3'
(R):5'- CCCAAGTGACCAGTGTAAATTTTGG -3'
Posted On 2015-06-20