Incidental Mutation 'IGL03061:Lpar6'
ID409453
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 #IGL03061
Quality Score
Status
Chromosome14
Chromosomal Location73237895-73243294 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 73239070 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 157 (T157I)
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 benign
Transcript: ENSMUST00000044405
AA Change: T157I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000042327
Gene: ENSMUSG00000033446
AA Change: T157I

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,508,337 N106K probably damaging Het
Ak8 T C 2: 28,742,755 probably benign Het
BC016579 C T 16: 45,629,486 G190S probably damaging Het
C4bp A G 1: 130,636,717 V410A probably damaging Het
Cacna2d3 T C 14: 29,058,431 T658A probably damaging Het
Cadps2 T C 6: 23,287,660 probably null Het
Car10 G T 11: 93,490,525 V105F probably damaging Het
Car15 C T 16: 17,835,385 C306Y possibly damaging Het
Casr C T 16: 36,495,888 A530T probably benign Het
Col5a3 A G 9: 20,797,572 probably null Het
Creld1 A G 6: 113,488,097 E95G probably damaging Het
Dcstamp T A 15: 39,760,397 D366E possibly damaging Het
Dnah11 T C 12: 117,903,121 Y4095C probably damaging Het
Eps8l2 A G 7: 141,357,235 probably benign Het
Gsn T C 2: 35,282,459 probably benign Het
Ifi27 T C 12: 103,435,544 V30A possibly damaging Het
Ifit1bl2 C T 19: 34,619,724 R164Q probably benign Het
Impg2 T C 16: 56,268,416 S1102P probably damaging Het
Kif24 G T 4: 41,394,323 P984Q possibly damaging Het
Krtap29-1 T A 11: 99,978,629 Q142L possibly damaging Het
Lrrc32 A T 7: 98,499,422 T470S probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mroh9 A T 1: 163,026,502 H776Q probably damaging Het
Myh7 T C 14: 54,991,204 probably benign Het
Myh7b A G 2: 155,620,111 N309S possibly damaging Het
Myo5b A T 18: 74,634,559 T313S probably benign Het
Myo5b G A 18: 74,580,544 probably benign Het
Npas4 C T 19: 4,986,337 V600M probably damaging Het
Nrxn3 T A 12: 89,511,928 Y557* probably null Het
Olfr169 T C 16: 19,566,713 T57A possibly damaging Het
Olfr552 A G 7: 102,604,739 I128M probably damaging Het
Olfr968 T A 9: 39,772,162 T213S probably benign Het
Pcdh15 A G 10: 74,317,011 I383V probably damaging Het
Pdzrn3 C A 6: 101,151,855 D617Y probably damaging Het
Prodh2 A T 7: 30,512,833 K408* probably null Het
Ptprs T C 17: 56,418,830 I1052V probably damaging Het
Rpl14 T C 9: 120,572,127 V12A probably damaging Het
Sf3a1 C T 11: 4,175,493 R428C probably damaging Het
Sgsm2 G T 11: 74,851,136 N1009K probably damaging Het
Slc28a2 A T 2: 122,454,499 I323F probably damaging Het
Snx19 T A 9: 30,433,632 F676I probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tg A C 15: 66,671,405 D56A probably damaging Het
Tln1 G T 4: 43,545,694 A928E probably damaging Het
Tmem94 T C 11: 115,792,421 S677P possibly damaging Het
Ttc41 C A 10: 86,736,857 H698N possibly damaging Het
Vcan T C 13: 89,703,275 T1189A probably benign Het
Vmn1r215 G T 13: 23,075,918 V43F probably damaging Het
Vmn2r28 A T 7: 5,484,016 N549K probably damaging Het
Zfp598 T C 17: 24,679,592 V455A 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
IGL01618:Lpar6 APN 14 73239066 missense probably damaging 0.96
IGL01676:Lpar6 APN 14 73239570 missense probably benign 0.24
IGL03031:Lpar6 APN 14 73239442 missense possibly damaging 0.64
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
R7868:Lpar6 UTSW 14 73238995 missense probably damaging 1.00
Posted On2016-08-02