Mutagenetix > Incidental Mutation

Incidental Mutation 'R1793:Lpar1'

201903

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

039823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58435255-58553898 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 58486798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 158 (R158*)

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 null
Transcript: ENSMUST00000055018
AA Change: R158*

SMART Domains

Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: R158*

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

Predicted Effect

probably null
Transcript: ENSMUST00000107570
AA Change: R140*

SMART Domains

Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: R140*

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

Predicted Effect

probably null
Transcript: ENSMUST00000107571
AA Change: R158*

SMART Domains

Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: R158*

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

Predicted Effect

probably null
Transcript: ENSMUST00000107574
AA Change: R158*

SMART Domains

Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: R158*

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

Predicted Effect

probably null
Transcript: ENSMUST00000107575
AA Change: R158*

SMART Domains

Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: R158*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

100% (122/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,144 (GRCm39)	H571Q	probably damaging	Het
Abcf2	T	A	5: 24,773,774 (GRCm39)	M372L	probably benign	Het
Acaca	A	C	11: 84,206,795 (GRCm39)	T1552P	probably damaging	Het
Acaca	A	G	11: 84,229,219 (GRCm39)	D1682G	probably damaging	Het
Acvr1b	T	C	15: 101,091,906 (GRCm39)	V62A	probably benign	Het
Aimp1	C	T	3: 132,379,825 (GRCm39)	V97M	probably benign	Het
Aldh1l1	C	T	6: 90,554,813 (GRCm39)	T557I	possibly damaging	Het
Alpk1	T	C	3: 127,471,447 (GRCm39)	T1012A	probably damaging	Het
Amot	G	A	X: 144,233,585 (GRCm39)		probably benign	Het
Arap1	T	A	7: 101,037,829 (GRCm39)	H477Q	probably benign	Het
Arhgap18	T	A	10: 26,736,732 (GRCm39)		probably benign	Het
Arhgef10l	C	T	4: 140,242,684 (GRCm39)	V862M	probably damaging	Het
Arl4d	A	G	11: 101,557,554 (GRCm39)	I27V	probably benign	Het
Asb18	G	A	1: 89,942,277 (GRCm39)	P8L	probably damaging	Het
Ash1l	A	G	3: 88,977,616 (GRCm39)	H2682R	probably damaging	Het
Aspm	T	A	1: 139,385,079 (GRCm39)	V241E	probably benign	Het
Atf7ip	G	T	6: 136,586,217 (GRCm39)		probably benign	Het
AY358078	T	G	14: 52,042,051 (GRCm39)	M142R	unknown	Het
C3	T	A	17: 57,526,592 (GRCm39)	K796N	possibly damaging	Het
Ceacam16	T	C	7: 19,590,041 (GRCm39)	T301A	probably damaging	Het
Ceacam5	T	G	7: 17,481,320 (GRCm39)	Y356D	probably benign	Het
Cep192	C	T	18: 67,984,838 (GRCm39)	A1616V	possibly damaging	Het
Cfap91	T	A	16: 38,141,781 (GRCm39)	N384Y	possibly damaging	Het
Cherp	A	T	8: 73,216,994 (GRCm39)	H645Q	probably benign	Het
CK137956	T	C	4: 127,845,242 (GRCm39)	D167G	probably benign	Het
Clcn1	T	A	6: 42,275,860 (GRCm39)		probably null	Het
Cntn1	C	T	15: 92,189,552 (GRCm39)	T625I	possibly damaging	Het
Cpn2	T	A	16: 30,078,142 (GRCm39)	N520Y	probably damaging	Het
Crocc	G	A	4: 140,746,620 (GRCm39)	R1762W	probably damaging	Het
Cts3	C	A	13: 61,715,967 (GRCm39)	V100F	probably benign	Het
Ddx56	A	T	11: 6,216,934 (GRCm39)	V87D	probably damaging	Het
Dnah9	C	T	11: 66,010,420 (GRCm39)		probably null	Het
Dock1	T	A	7: 134,700,456 (GRCm39)		probably null	Het
Dst	T	A	1: 34,191,552 (GRCm39)	Y291*	probably null	Het
Eif4g3	T	C	4: 137,898,442 (GRCm39)	I1071T	probably damaging	Het
Fblim1	T	C	4: 141,322,549 (GRCm39)	Q78R	probably damaging	Het
Fcamr	C	T	1: 130,739,284 (GRCm39)	P195S	probably benign	Het
Fcho1	G	A	8: 72,161,666 (GRCm39)	Q835*	probably null	Het
Frem3	A	G	8: 81,339,741 (GRCm39)	N678S	probably benign	Het
Frk	G	A	10: 34,483,878 (GRCm39)	R413H	probably benign	Het
Gm10619	C	A	7: 73,459,758 (GRCm39)		noncoding transcript	Het
Gm12185	G	A	11: 48,806,583 (GRCm39)	R203*	probably null	Het
Gm12886	A	G	4: 121,280,174 (GRCm39)	V34A	probably benign	Het
Gna12	A	T	5: 140,746,707 (GRCm39)	I246N	probably damaging	Het
Gpm6a	T	C	8: 55,507,867 (GRCm39)	M201T	probably benign	Het
Gpsm2	T	G	3: 108,608,225 (GRCm39)	D220A	probably benign	Het
Grip2	C	G	6: 91,760,623 (GRCm39)	V325L	probably benign	Het
Grk5	C	A	19: 61,065,200 (GRCm39)	A288D	probably damaging	Het
Herpud2	G	A	9: 25,021,953 (GRCm39)	A231V	possibly damaging	Het
Hmcn1	T	C	1: 150,624,834 (GRCm39)	S1024G	probably benign	Het
Hp1bp3	A	G	4: 137,957,820 (GRCm39)	D295G	probably damaging	Het
Igsf21	T	C	4: 139,761,703 (GRCm39)	H325R	probably damaging	Het
Ing2	T	A	8: 48,122,364 (GRCm39)	L61F	probably damaging	Het
Jak3	T	C	8: 72,138,590 (GRCm39)		probably benign	Het
Kcnn3	T	A	3: 89,516,712 (GRCm39)	C374S	probably benign	Het
Klk1b22	A	G	7: 43,765,775 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,940,764 (GRCm39)	M630T	possibly damaging	Het
Lhx5	T	A	5: 120,572,725 (GRCm39)	C115S	probably damaging	Het
Lmcd1	C	A	6: 112,305,712 (GRCm39)	T271K	probably benign	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Map3k8	G	A	18: 4,332,389 (GRCm39)	Q441*	probably null	Het
Mboat1	T	C	13: 30,403,633 (GRCm39)	V144A	probably damaging	Het
Mcur1	C	T	13: 43,713,491 (GRCm39)	G38S	unknown	Het
Med13	T	A	11: 86,220,177 (GRCm39)	M276L	probably benign	Het
Mefv	A	G	16: 3,526,528 (GRCm39)	S699P	possibly damaging	Het
Mfsd4a	C	A	1: 131,987,077 (GRCm39)	A62S	probably damaging	Het
Mmp27	A	G	9: 7,571,459 (GRCm39)	M1V	probably null	Het
Myo1c	C	T	11: 75,548,415 (GRCm39)	T58I	probably damaging	Het
Myom3	A	T	4: 135,538,066 (GRCm39)	D1316V	probably benign	Het
Naa25	T	A	5: 121,555,478 (GRCm39)	C235S	possibly damaging	Het
Naa25	C	A	5: 121,558,656 (GRCm39)	R333S	probably damaging	Het
Nav3	G	A	10: 109,539,233 (GRCm39)	T2056I	probably benign	Het
Nol4	A	G	18: 22,902,878 (GRCm39)	Y378H	probably damaging	Het
Npat	G	A	9: 53,463,589 (GRCm39)	R124Q	probably damaging	Het
Npr3	T	A	15: 11,848,665 (GRCm39)	E434V	probably benign	Het
Nptx2	A	G	5: 144,485,130 (GRCm39)	T208A	probably benign	Het
Obscn	C	T	11: 58,968,606 (GRCm39)	V2798M	probably damaging	Het
Odad4	C	A	11: 100,460,679 (GRCm39)		probably null	Het
Or10j7	A	T	1: 173,011,976 (GRCm39)	H8Q	probably benign	Het
Or52r1	A	G	7: 102,537,250 (GRCm39)	Y37H	probably benign	Het
Or5b122	C	T	19: 13,562,779 (GRCm39)	T37I	probably benign	Het
Padi1	G	A	4: 140,541,967 (GRCm39)	P652S	probably damaging	Het
Pcdh1	G	T	18: 38,331,938 (GRCm39)	P355Q	probably damaging	Het
Pck2	G	A	14: 55,781,422 (GRCm39)	R189H	possibly damaging	Het
Pcsk5	T	A	19: 17,432,114 (GRCm39)	K1500N	possibly damaging	Het
Phc3	A	T	3: 31,002,865 (GRCm39)	S218T	probably damaging	Het
Piezo2	T	A	18: 63,239,355 (GRCm39)	M510L	possibly damaging	Het
Polr1g	T	C	7: 19,091,904 (GRCm39)	T68A	possibly damaging	Het
Ppp1r3a	A	T	6: 14,754,717 (GRCm39)	Y177N	probably damaging	Het
Psme2b	A	T	11: 48,836,361 (GRCm39)	D195E	probably damaging	Het
Ptprr	T	C	10: 116,088,827 (GRCm39)	V463A	probably damaging	Het
Pwwp2b	G	A	7: 138,836,281 (GRCm39)	R574Q	probably damaging	Het
Rap1gds1	T	A	3: 138,756,314 (GRCm39)	T14S	possibly damaging	Het
Rbm11	A	T	16: 75,397,685 (GRCm39)	K205M	probably damaging	Het
Rfx1	T	A	8: 84,793,050 (GRCm39)		probably benign	Het
Rnasel	C	A	1: 153,630,169 (GRCm39)	H228Q	probably damaging	Het
Sap130	T	A	18: 31,831,640 (GRCm39)	I710K	probably benign	Het
Slc27a4	C	A	2: 29,695,733 (GRCm39)	D89E	probably benign	Het
Spata31d1b	T	C	13: 59,863,779 (GRCm39)	V309A	probably benign	Het
Syt7	T	G	19: 10,421,354 (GRCm39)	Y420D	probably damaging	Het
Tanc2	A	G	11: 105,515,859 (GRCm39)		probably null	Het
Tbc1d10b	A	G	7: 126,802,930 (GRCm39)	S333P	possibly damaging	Het
Tenm2	G	A	11: 35,914,209 (GRCm39)	P2442S	probably damaging	Het
Tenm3	C	T	8: 49,127,579 (GRCm39)	C33Y	probably damaging	Het
Timmdc1	A	G	16: 38,319,419 (GRCm39)	L245P	possibly damaging	Het
Tlr5	T	C	1: 182,800,012 (GRCm39)	F5L	probably benign	Het
Ttll4	T	A	1: 74,726,999 (GRCm39)	F784L	possibly damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Txndc17	T	A	11: 72,099,571 (GRCm39)	N81K	probably benign	Het
Ubr3	C	T	2: 69,830,895 (GRCm39)		probably benign	Het
Uri1	A	C	7: 37,681,116 (GRCm39)	V96G	probably damaging	Het
Uspl1	T	A	5: 149,150,246 (GRCm39)	I482N	probably damaging	Het
Vmn1r229	A	G	17: 21,034,974 (GRCm39)	N73S	possibly damaging	Het
Vwa7	G	T	17: 35,243,388 (GRCm39)	G689*	probably null	Het
Zfp114	T	A	7: 23,877,164 (GRCm39)		probably null	Het
Zfp618	A	G	4: 63,051,474 (GRCm39)	S659G	probably damaging	Het
Zfp872	A	G	9: 22,111,349 (GRCm39)	K275R	probably damaging	Het
Zzef1	C	T	11: 72,777,535 (GRCm39)	P1789S	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
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
R6593:Lpar1	UTSW	4	58,486,605 (GRCm39)	missense	probably damaging	1.00
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'- ATGTGAGCGTAGAGAACCACC -3'
(R):5'- ACTTCTTCGCTGGATTGGC -3'

Sequencing Primer
(F):5'- CCACAAAGGTCACCAGGTTG -3'
(R):5'- GGATTGGCCTACTTCTACCTGATG -3'

Posted On

2014-06-23