Mutagenetix > Incidental Mutation

Incidental Mutation 'R6593:Lpar1'

523464

Institutional Source

Beutler Lab

Gene Symbol

Lpar1

Ensembl Gene

ENSMUSG00000038668

Gene Name

lysophosphatidic acid receptor 1

Synonyms

Edg2, LPA1, vzg-1, Kdt2, Gpcr26

MMRRC Submission

044717-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6593 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58435255-58553898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58486605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 222 (V222E)

Ref Sequence

ENSEMBL: ENSMUSP00000103201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055018] [ENSMUST00000107570] [ENSMUST00000107571] [ENSMUST00000107574] [ENSMUST00000107575] [ENSMUST00000145361] [ENSMUST00000147354] [ENSMUST00000155170]

AlphaFold

P61793

Predicted Effect

probably damaging
Transcript: ENSMUST00000055018
AA Change: V222E

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

SMART Domains

Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: V222E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	66	311	5.9e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107570
AA Change: V204E

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

SMART Domains

Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: V204E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	48	293	2.3e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107571
AA Change: V222E

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

SMART Domains

Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: V222E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	66	311	1.3e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107574
AA Change: V222E

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

SMART Domains

Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: V222E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	66	311	1.3e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107575
AA Change: V222E

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

SMART Domains

Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: V222E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	66	311	1.3e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119701

Predicted Effect

probably benign
Transcript: ENSMUST00000145361

Predicted Effect

probably benign
Transcript: ENSMUST00000147354

Predicted Effect

probably benign
Transcript: ENSMUST00000155170

SMART Domains

Protein: ENSMUSP00000121440
Gene: ENSMUSG00000038668

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 96.6%
20x: 89.6%

Validation Efficiency

100% (37/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mutations cause partial peri- and postnatal lethality, growth defects, craniofacial anomalies, and wide set eyes. Additional phenotypes include altered brain 5-HT and amino acids, reduced prepulse inhibition, impaired suckling, and increased apoptosis in sciatic nerve Schwann cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,903,491 (GRCm39)	N1047K	probably benign	Het
AI597479	C	A	1: 43,150,408 (GRCm39)	Q173K	probably damaging	Het
Arhgef10	T	C	8: 15,012,522 (GRCm39)	L282P	probably damaging	Het
Arhgef10	T	C	8: 15,012,564 (GRCm39)	I296T	possibly damaging	Het
Atg2b	A	G	12: 105,611,107 (GRCm39)	S1275P	probably damaging	Het
Cep290	T	C	10: 100,344,638 (GRCm39)	M485T	probably benign	Het
Clca3a2	A	G	3: 144,514,338 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,095,226 (GRCm39)	S731N	probably benign	Het
Clic6	A	G	16: 92,325,005 (GRCm39)	I388V	possibly damaging	Het
Cpsf4l	G	T	11: 113,600,192 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,200,720 (GRCm39)	H1350Y	probably benign	Het
Dnase2b	T	C	3: 146,292,666 (GRCm39)	Y169C	probably damaging	Het
Elavl3	C	T	9: 21,929,843 (GRCm39)	V354M	possibly damaging	Het
Farp2	A	C	1: 93,497,662 (GRCm39)	I231L	possibly damaging	Het
Gcc2	T	A	10: 58,107,329 (GRCm39)	M755K	probably damaging	Het
Gpr88	T	C	3: 116,046,273 (GRCm39)	T13A	unknown	Het
Gstm3	T	A	3: 107,875,511 (GRCm39)	N40Y	probably benign	Het
Krtap5-2	A	T	7: 141,728,697 (GRCm39)	C328S	unknown	Het
Neto2	A	G	8: 86,396,175 (GRCm39)	S192P	probably damaging	Het
Odad1	T	A	7: 45,596,808 (GRCm39)	D378E	probably damaging	Het
Or52n3	C	T	7: 104,530,640 (GRCm39)	T242I	probably damaging	Het
Pcdhgb1	G	T	18: 37,815,134 (GRCm39)	D542Y	probably damaging	Het
Phldb2	G	A	16: 45,645,790 (GRCm39)	Q264*	probably null	Het
Ptgs2	G	A	1: 149,976,784 (GRCm39)	D6N	possibly damaging	Het
Rasef	G	T	4: 73,663,327 (GRCm39)	H167N	probably damaging	Het
Rbbp4	A	G	4: 129,216,168 (GRCm39)	L193S	probably damaging	Het
Rigi	T	C	4: 40,226,651 (GRCm39)	I169V	probably benign	Het
Sec24d	T	C	3: 123,147,061 (GRCm39)	F673S	probably damaging	Het
Slc9b1	T	C	3: 135,063,219 (GRCm39)	M1T	probably null	Het
Stra6	A	G	9: 58,059,262 (GRCm39)	T542A	probably benign	Het
Stt3b	T	C	9: 115,081,579 (GRCm39)	Y569C	probably damaging	Het
Traf3ip1	A	G	1: 91,455,417 (GRCm39)	K626R	possibly damaging	Het
Washc2	T	A	6: 116,236,210 (GRCm39)	I1227N	probably damaging	Het
Xpo7	G	A	14: 70,919,802 (GRCm39)	A671V	probably damaging	Het
Zfp799	A	G	17: 33,038,764 (GRCm39)	Y501H	probably damaging	Het

Other mutations in Lpar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Lpar1	APN	4	58,437,407 (GRCm39)	missense	probably damaging	1.00
bijou	UTSW	4	58,487,155 (GRCm39)	missense	possibly damaging	0.81
frenzied	UTSW	4	58,437,346 (GRCm39)	missense	possibly damaging	0.94
helper	UTSW	4	58,486,875 (GRCm39)	missense	possibly damaging	0.95
R0403:Lpar1	UTSW	4	58,487,191 (GRCm39)	missense	probably damaging	1.00
R1793:Lpar1	UTSW	4	58,486,798 (GRCm39)	nonsense	probably null
R2312:Lpar1	UTSW	4	58,487,168 (GRCm39)	nonsense	probably null
R4279:Lpar1	UTSW	4	58,487,115 (GRCm39)	missense	possibly damaging	0.73
R4762:Lpar1	UTSW	4	58,437,346 (GRCm39)	missense	possibly damaging	0.94
R5391:Lpar1	UTSW	4	58,486,902 (GRCm39)	missense	probably damaging	1.00
R5500:Lpar1	UTSW	4	58,486,573 (GRCm39)	missense	probably benign	0.26
R5619:Lpar1	UTSW	4	58,487,155 (GRCm39)	missense	possibly damaging	0.81
R6208:Lpar1	UTSW	4	58,504,630 (GRCm39)	nonsense	probably null
R6304:Lpar1	UTSW	4	58,487,013 (GRCm39)	missense	probably damaging	1.00
R6464:Lpar1	UTSW	4	58,486,875 (GRCm39)	missense	possibly damaging	0.95
R7267:Lpar1	UTSW	4	58,486,857 (GRCm39)	missense	possibly damaging	0.89
R7712:Lpar1	UTSW	4	58,486,795 (GRCm39)	missense	probably benign	0.09
R8185:Lpar1	UTSW	4	58,486,509 (GRCm39)	missense	probably damaging	0.99
R8995:Lpar1	UTSW	4	58,486,954 (GRCm39)	missense	probably damaging	0.98
R9292:Lpar1	UTSW	4	58,486,558 (GRCm39)	missense	probably benign	0.03
R9787:Lpar1	UTSW	4	58,437,349 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TGTATGTGGCCATTTGACAAC -3'
(R):5'- ATGCAGCTCCATACACGAATG -3'

Sequencing Primer
(F):5'- TGGCCATTTGACAACATTGG -3'
(R):5'- TACACGAATGAGCAACCGG -3'

Posted On

2018-06-22