Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01676:Lpar6'

103642

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 #

IGL01676

Quality Score

Status

Chromosome

Chromosomal Location

73475331-73477798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73477010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 324 (N324D)

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 benign
Transcript: ENSMUST00000044405
AA Change: N324D

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000042327
Gene: ENSMUSG00000033446
AA Change: N324D

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	T	7: 119,307,866 (GRCm39)	R334S	probably benign	Het
Adamts3	A	T	5: 89,825,613 (GRCm39)	F1075L	probably benign	Het
Adamts3	A	G	5: 90,029,402 (GRCm39)	V30A	possibly damaging	Het
Bpifb5	A	G	2: 154,070,969 (GRCm39)	N223D	possibly damaging	Het
Cacna1e	T	C	1: 154,274,222 (GRCm39)	R2228G	probably damaging	Het
Cacna1e	T	C	1: 154,288,196 (GRCm39)	E1894G	probably damaging	Het
Calr4	A	G	4: 109,101,447 (GRCm39)	K110E	probably damaging	Het
Catsperz	G	T	19: 6,902,421 (GRCm39)	Y24*	probably null	Het
Clec9a	T	G	6: 129,398,118 (GRCm39)	S219A	probably benign	Het
Csrnp3	T	A	2: 65,779,336 (GRCm39)	I16N	probably damaging	Het
Ddx19a	A	G	8: 111,707,621 (GRCm39)		probably null	Het
Diaph1	G	A	18: 37,989,241 (GRCm39)	Q905*	probably null	Het
Dnah10	T	C	5: 124,880,392 (GRCm39)	M2743T	possibly damaging	Het
Ears2	A	T	7: 121,643,781 (GRCm39)	D392E	probably benign	Het
Fsip1	T	C	2: 118,070,865 (GRCm39)		probably benign	Het
Ighv1-74	T	C	12: 115,766,323 (GRCm39)	Y98C	possibly damaging	Het
Igsf10	T	C	3: 59,233,432 (GRCm39)	K1767R	probably benign	Het
Igsf10	C	T	3: 59,236,756 (GRCm39)	A1142T	probably benign	Het
Lrit1	T	A	14: 36,779,394 (GRCm39)	L109Q	probably damaging	Het
Nlrp4f	A	T	13: 65,342,933 (GRCm39)	D237E	possibly damaging	Het
Oas1h	G	T	5: 121,009,897 (GRCm39)	G324V	probably damaging	Het
Pak1	T	G	7: 97,532,738 (GRCm39)	D179E	probably benign	Het
Prop1	T	A	11: 50,842,956 (GRCm39)	Q77L	probably damaging	Het
Scn10a	A	T	9: 119,501,231 (GRCm39)	Y184*	probably null	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Trim67	A	T	8: 125,541,899 (GRCm39)	I366F	possibly damaging	Het
Vmn2r94	T	G	17: 18,477,272 (GRCm39)	M380L	probably benign	Het
Vmn2r-ps158	A	G	7: 42,674,133 (GRCm39)	N397S	probably damaging	Het
Zfand3	T	G	17: 30,354,337 (GRCm39)	S51R	possibly damaging	Het
Zfp36l3	T	C	X: 52,777,624 (GRCm39)	S197G	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
IGL01611:Lpar6	APN	14	73,476,878 (GRCm39)	missense	probably damaging	1.00
IGL01618:Lpar6	APN	14	73,476,506 (GRCm39)	missense	probably damaging	0.96
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

2014-01-21