Incidental Mutation 'IGL01618:Lpar6'
ID92446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpar6
Ensembl Gene ENSMUSG00000033446
Gene Namelysophosphatidic acid receptor 6
Synonyms2610302I02Rik, P2ry5, P2y5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01618
Quality Score
Status
Chromosome14
Chromosomal Location73237895-73243294 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73239066 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 156 (S156P)
Ref Sequence ENSEMBL: ENSMUSP00000042327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022701] [ENSMUST00000044405]
Predicted Effect probably benign
Transcript: ENSMUST00000022701
SMART Domains Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
low complexity region 37 53 N/A INTRINSIC
DUF3452 97 223 4.59e-25 SMART
RB_A 367 567 5.53e-92 SMART
CYCLIN 653 740 1.62e-5 SMART
Rb_C 761 920 1.28e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000044405
AA Change: S156P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042327
Gene: ENSMUSG00000033446
AA Change: S156P

DomainStartEndE-ValueType
Pfam:7tm_1 34 291 2.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170967
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,272,833 A74V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1a3 G A 7: 66,409,230 T239I probably damaging Het
Anxa9 A G 3: 95,300,536 probably null Het
Atp5k C A 5: 108,434,033 K28N probably damaging Het
C9 T G 15: 6,459,668 Y169D probably benign Het
Cbwd1 T C 19: 24,940,776 E210G possibly damaging Het
Chat T A 14: 32,446,892 probably null Het
Csmd3 C T 15: 48,011,083 E706K probably benign Het
Ctbs A G 3: 146,455,112 K145E probably benign Het
Dennd5a A G 7: 109,934,095 M156T probably damaging Het
Dhx29 A G 13: 112,965,222 Y1275C probably damaging Het
Dpp10 A T 1: 123,367,867 F517Y probably benign Het
Dst G A 1: 34,188,909 W1536* probably null Het
Galc T C 12: 98,252,081 T171A possibly damaging Het
Gsap T C 5: 21,226,248 I190T probably damaging Het
Hars2 A T 18: 36,789,577 R388* probably null Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Itgbl1 T A 14: 123,827,799 S122T possibly damaging Het
Jhy G T 9: 40,960,964 T83K possibly damaging Het
Kcne4 A T 1: 78,817,808 M58L possibly damaging Het
Lamc3 T A 2: 31,912,107 I509N probably damaging Het
Man2c1 T C 9: 57,141,556 probably benign Het
March11 T C 15: 26,409,199 I328T possibly damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Muc4 A T 16: 32,756,627 Q2167L unknown Het
Myom1 T C 17: 71,099,993 V1135A possibly damaging Het
Nectin1 C T 9: 43,791,258 R101* probably null Het
Nxpe4 T C 9: 48,394,140 S277P possibly damaging Het
Olfr1152 A C 2: 87,868,144 D51A probably damaging Het
Olfr1459 T A 19: 13,146,250 K136N probably benign Het
Olfr395 T C 11: 73,907,477 N5S probably damaging Het
Olfr437 T A 6: 43,167,703 V215E probably damaging Het
Olfr584 G A 7: 103,086,375 V281I probably benign Het
Pappa2 G T 1: 158,857,378 N730K probably damaging Het
Prepl A G 17: 85,066,281 V586A probably damaging Het
Prrc2a T C 17: 35,149,553 Y2098C probably damaging Het
Rdh16 G A 10: 127,801,307 C37Y probably damaging Het
Rnd1 A T 15: 98,673,865 M100K probably benign Het
Sema3c A G 5: 17,672,506 N204D probably damaging Het
Susd4 A G 1: 182,858,461 probably null Het
Taar7f G T 10: 24,050,341 A278S possibly damaging Het
Tle4 T A 19: 14,544,814 M122L probably benign Het
Trim9 C T 12: 70,248,351 V662I probably benign Het
Vmn2r10 C A 5: 109,002,479 C233F probably damaging Het
Vmn2r98 A C 17: 19,065,259 T114P possibly damaging Het
Zfyve21 C T 12: 111,827,813 probably benign Het
Other mutations in Lpar6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Lpar6 APN 14 73238637 missense probably damaging 1.00
IGL01611:Lpar6 APN 14 73239438 missense probably damaging 1.00
IGL01676:Lpar6 APN 14 73239570 missense probably benign 0.24
IGL03031:Lpar6 APN 14 73239442 missense possibly damaging 0.64
IGL03061:Lpar6 APN 14 73239070 missense probably benign 0.03
runningback UTSW 14 73238707 missense probably damaging 1.00
R1900:Lpar6 UTSW 14 73239139 missense probably benign 0.01
R2895:Lpar6 UTSW 14 73239276 missense probably damaging 1.00
R2896:Lpar6 UTSW 14 73239276 missense probably damaging 1.00
R3972:Lpar6 UTSW 14 73239073 missense probably benign 0.01
R4305:Lpar6 UTSW 14 73238941 missense probably damaging 1.00
R4827:Lpar6 UTSW 14 73238750 missense probably damaging 1.00
R4989:Lpar6 UTSW 14 73238707 missense probably damaging 1.00
R5024:Lpar6 UTSW 14 73239369 missense probably damaging 0.99
R5133:Lpar6 UTSW 14 73238707 missense probably damaging 1.00
R5173:Lpar6 UTSW 14 73239097 missense probably benign 0.01
R5931:Lpar6 UTSW 14 73238928 missense probably damaging 1.00
R6283:Lpar6 UTSW 14 73238857 missense probably damaging 1.00
R6316:Lpar6 UTSW 14 73239334 missense probably damaging 1.00
R7414:Lpar6 UTSW 14 73238800 missense probably damaging 1.00
Posted On2013-12-09