Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01611:Lpar6'

92101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lpar6

Ensembl Gene

ENSMUSG00000033446

Gene Name

lysophosphatidic acid receptor 6

Synonyms

2610302I02Rik, P2ry5, P2y5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01611

Quality Score

Status

Chromosome

Chromosomal Location

73475331-73477798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73476878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 280 (A280S)

Ref Sequence

ENSEMBL: ENSMUSP00000042327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022701] [ENSMUST00000044405]

AlphaFold

Q8BMC0

Predicted Effect

probably benign
Transcript: ENSMUST00000022701

SMART Domains

Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105

Domain	Start	End	E-Value	Type
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: A280S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042327
Gene: ENSMUSG00000033446
AA Change: A280S

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,954,644 (GRCm39)	L209S	possibly damaging	Het
Abcc2	G	T	19: 43,815,068 (GRCm39)	V1152F	probably damaging	Het
Adam9	C	T	8: 25,457,212 (GRCm39)	V639I	probably benign	Het
Cdc6	A	G	11: 98,805,989 (GRCm39)	I388V	probably benign	Het
Chrm5	C	T	2: 112,310,651 (GRCm39)	W155*	probably null	Het
Chrna9	A	G	5: 66,128,287 (GRCm39)	D161G	probably damaging	Het
Det1	A	G	7: 78,477,702 (GRCm39)	V541A	possibly damaging	Het
Efhc1	G	T	1: 21,060,911 (GRCm39)	*649L	probably null	Het
Ehbp1	C	T	11: 22,122,883 (GRCm39)	V146M	probably damaging	Het
Enam	A	C	5: 88,651,608 (GRCm39)	D1039A	probably damaging	Het
Fam20b	A	T	1: 156,530,035 (GRCm39)	V133E	probably benign	Het
Frem2	T	A	3: 53,563,130 (GRCm39)	Q459L	probably benign	Het
Gapdhs	C	T	7: 30,429,866 (GRCm39)		probably benign	Het
Gm3404	T	A	5: 146,465,157 (GRCm39)	V299D	possibly damaging	Het
Gorasp2	C	A	2: 70,519,604 (GRCm39)	H310N	possibly damaging	Het
Gpr157	T	C	4: 150,186,094 (GRCm39)	S219P	possibly damaging	Het
Gpt2	T	A	8: 86,246,167 (GRCm39)	C375*	probably null	Het
Gtf2h3	T	C	5: 124,733,748 (GRCm39)	S274P	probably damaging	Het
Hmg20b	C	T	10: 81,183,309 (GRCm39)	V83M	probably benign	Het
Igf2r	G	T	17: 12,944,302 (GRCm39)	Y400*	probably null	Het
Ipo9	A	T	1: 135,314,431 (GRCm39)	W942R	possibly damaging	Het
Iqch	T	C	9: 63,403,519 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,383 (GRCm39)	L393P	probably benign	Het
Kcnk12	T	A	17: 88,104,495 (GRCm39)	I130L	probably benign	Het
Lcorl	T	C	5: 45,904,434 (GRCm39)	T205A	probably damaging	Het
Mgarp	A	T	3: 51,296,570 (GRCm39)	V152E	probably damaging	Het
Pard3b	A	G	1: 62,677,021 (GRCm39)	D1184G	probably damaging	Het
Pcnt	A	G	10: 76,272,258 (GRCm39)		probably null	Het
Pde6b	A	G	5: 108,551,262 (GRCm39)	N182S	possibly damaging	Het
Pom121	T	C	5: 135,412,526 (GRCm39)	K516E	unknown	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn18	T	C	1: 34,498,898 (GRCm39)		probably benign	Het
Rapgef5	C	T	12: 117,717,154 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,606,202 (GRCm39)	L4460S	possibly damaging	Het
Sema6b	T	C	17: 56,436,969 (GRCm39)		probably null	Het
Serpinb6d	T	A	13: 33,850,375 (GRCm39)	C67*	probably null	Het
Sorbs2	T	G	8: 46,248,381 (GRCm39)	V510G	probably null	Het
Spic	T	A	10: 88,511,864 (GRCm39)	I131F	possibly damaging	Het
Spire2	T	C	8: 124,086,137 (GRCm39)	S290P	probably damaging	Het
Tas2r117	C	T	6: 132,780,447 (GRCm39)	S195F	probably benign	Het
Tas2r117	T	C	6: 132,780,450 (GRCm39)	V196A	probably damaging	Het
Tff1	C	T	17: 31,381,703 (GRCm39)	G58D	probably damaging	Het
Tmprss11g	T	C	5: 86,638,640 (GRCm39)	T283A	probably benign	Het
Toporsl	T	A	4: 52,610,794 (GRCm39)	L229H	probably damaging	Het
Vmn2r80	G	A	10: 79,007,488 (GRCm39)	G488D	probably damaging	Het
Vps54	T	A	11: 21,261,082 (GRCm39)	V583D	probably damaging	Het
Vwa1	T	C	4: 155,855,255 (GRCm39)	E286G	possibly damaging	Het
Vwde	A	T	6: 13,219,977 (GRCm39)	I58N	probably damaging	Het
Zbtb11	T	C	16: 55,800,973 (GRCm39)	V109A	probably damaging	Het
Zfp319	C	T	8: 96,055,540 (GRCm39)	R221Q	probably benign	Het

Other mutations in Lpar6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Lpar6	APN	14	73,476,077 (GRCm39)	missense	probably damaging	1.00
IGL01618:Lpar6	APN	14	73,476,506 (GRCm39)	missense	probably damaging	0.96
IGL01676:Lpar6	APN	14	73,477,010 (GRCm39)	missense	probably benign	0.24
IGL03031:Lpar6	APN	14	73,476,882 (GRCm39)	missense	possibly damaging	0.64
IGL03061:Lpar6	APN	14	73,476,510 (GRCm39)	missense	probably benign	0.03
R1900:Lpar6	UTSW	14	73,476,579 (GRCm39)	missense	probably benign	0.01
R2895:Lpar6	UTSW	14	73,476,716 (GRCm39)	missense	probably damaging	1.00
R2896:Lpar6	UTSW	14	73,476,716 (GRCm39)	missense	probably damaging	1.00
R3972:Lpar6	UTSW	14	73,476,513 (GRCm39)	missense	probably benign	0.01
R4305:Lpar6	UTSW	14	73,476,381 (GRCm39)	missense	probably damaging	1.00
R4827:Lpar6	UTSW	14	73,476,190 (GRCm39)	missense	probably damaging	1.00
R4989:Lpar6	UTSW	14	73,476,147 (GRCm39)	missense	probably damaging	1.00
R5024:Lpar6	UTSW	14	73,476,809 (GRCm39)	missense	probably damaging	0.99
R5133:Lpar6	UTSW	14	73,476,147 (GRCm39)	missense	probably damaging	1.00
R5173:Lpar6	UTSW	14	73,476,537 (GRCm39)	missense	probably benign	0.01
R5931:Lpar6	UTSW	14	73,476,368 (GRCm39)	missense	probably damaging	1.00
R6283:Lpar6	UTSW	14	73,476,297 (GRCm39)	missense	probably damaging	1.00
R6316:Lpar6	UTSW	14	73,476,774 (GRCm39)	missense	probably damaging	1.00
R7414:Lpar6	UTSW	14	73,476,240 (GRCm39)	missense	probably damaging	1.00
R7868:Lpar6	UTSW	14	73,476,435 (GRCm39)	missense	probably damaging	1.00
R8749:Lpar6	UTSW	14	73,476,950 (GRCm39)	missense	probably benign
R9098:Lpar6	UTSW	14	73,476,233 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09