Mutagenetix > Incidental Mutation

Incidental Mutation 'R2895:Lpar6'

260761

Institutional Source

Beutler Lab

Gene Symbol

Lpar6

Ensembl Gene

ENSMUSG00000033446

Gene Name

lysophosphatidic acid receptor 6

Synonyms

2610302I02Rik, P2ry5, P2y5

MMRRC Submission

040483-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2895 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73475331-73477798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73476716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 226 (K226E)

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: K226E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042327
Gene: ENSMUSG00000033446
AA Change: K226E

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

Meta Mutation Damage Score

0.6045

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,093,252 (GRCm39)	V1007A	probably benign	Het
Abhd14b	C	T	9: 106,327,313 (GRCm39)	R32C	probably benign	Het
Akirin1	T	C	4: 123,631,864 (GRCm39)	E168G	probably damaging	Het
Apol7e	A	T	15: 77,598,667 (GRCm39)	D44V	possibly damaging	Het
Asic1	A	G	15: 99,594,483 (GRCm39)	I310V	probably benign	Het
Atp6v0a1	A	G	11: 100,935,424 (GRCm39)	H661R	probably benign	Het
Caskin1	A	G	17: 24,708,016 (GRCm39)	R25G	probably damaging	Het
Cd96	G	T	16: 45,938,168 (GRCm39)	T99K	probably benign	Het
Cep250	C	A	2: 155,834,042 (GRCm39)	A1989D	probably benign	Het
Clasp1	T	G	1: 118,387,568 (GRCm39)	V78G	probably damaging	Het
Cmklr2	T	A	1: 63,222,321 (GRCm39)	I305L	probably benign	Het
Col15a1	T	C	4: 47,312,091 (GRCm39)	V1302A	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyb5r4	C	T	9: 86,922,452 (GRCm39)	Q154*	probably null	Het
Dnah7b	T	C	1: 46,178,901 (GRCm39)	F858S	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Igkv1-135	T	A	6: 67,587,332 (GRCm39)	S68T	probably benign	Het
Kmt2d	G	A	15: 98,741,820 (GRCm39)		probably benign	Het
Lonp1	A	G	17: 56,922,562 (GRCm39)	L688P	probably damaging	Het
Map3k19	T	C	1: 127,749,835 (GRCm39)	D968G	possibly damaging	Het
Med16	G	A	10: 79,739,005 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrps7	A	G	11: 115,495,865 (GRCm39)	M98V	probably benign	Het
Ms4a14	A	T	19: 11,281,595 (GRCm39)	I321N	possibly damaging	Het
Muc5ac	A	G	7: 141,344,877 (GRCm39)	D116G	possibly damaging	Het
Neu1	A	G	17: 35,151,758 (GRCm39)	D184G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Or11h23	T	C	14: 50,947,973 (GRCm39)	F62S	probably damaging	Het
Pcdh19	CTGTCTCCTCCA	C	X: 132,582,057 (GRCm39)		probably null	Het
Pcdh19	TGTCTCCTCCACGTC	TGTC	X: 132,582,058 (GRCm39)		probably null	Het
Plcz1	A	G	6: 139,968,877 (GRCm39)	I187T	possibly damaging	Het
Pot1b	A	T	17: 55,994,939 (GRCm39)	I241N	probably damaging	Het
Ppp4r3c1	A	G	X: 88,976,005 (GRCm39)	M64T	possibly damaging	Het
Ptpre	G	A	7: 135,245,587 (GRCm39)	W11*	probably null	Het
Rgsl1	T	A	1: 153,703,294 (GRCm39)	E154V	probably damaging	Het
Rnasel	T	C	1: 153,636,522 (GRCm39)	I634T	probably damaging	Het
Scn10a	A	T	9: 119,490,467 (GRCm39)	S492T	probably benign	Het
Sec24d	T	A	3: 123,136,800 (GRCm39)	V511E	probably damaging	Het
Slc7a1	A	G	5: 148,277,402 (GRCm39)	I371T	probably benign	Het
Smg1	A	G	7: 117,788,366 (GRCm39)		probably benign	Het
Sntg2	A	T	12: 30,276,845 (GRCm39)	S402R	probably benign	Het
Stfa3	C	A	16: 36,272,522 (GRCm39)	L59F	probably benign	Het
Tlr3	T	C	8: 45,850,629 (GRCm39)	E756G	possibly damaging	Het
Ttll4	T	A	1: 74,724,517 (GRCm39)	H562Q	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGTCGACCCACTCTCAG -3'
(R):5'- TAGGGTCAAAGCAGCAGTTG -3'

Sequencing Primer
(F):5'- ATACCTCAGAAGCCTGCTTTGAG -3'
(R):5'- TCAAAGCAGCAGTTGGAAAC -3'

Posted On

2015-01-23