Mutagenetix > Incidental Mutation

Incidental Mutation 'R6208:Lpar1'

503250

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

044342-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58435255-58553898 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 58504630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 13 (Q13*)

Ref Sequence

ENSEMBL: ENSMUSP00000121440 (fasta)

Gene Model

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

AlphaFold

P61793

Predicted Effect

probably null
Transcript: ENSMUST00000055018
AA Change: Q13*

SMART Domains

Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: Q13*

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

Predicted Effect

probably null
Transcript: ENSMUST00000107571
AA Change: Q13*

SMART Domains

Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: Q13*

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

Predicted Effect

probably null
Transcript: ENSMUST00000107574
AA Change: Q13*

SMART Domains

Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: Q13*

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

Predicted Effect

probably null
Transcript: ENSMUST00000107575
AA Change: Q13*

SMART Domains

Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: Q13*

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

Predicted Effect

probably null
Transcript: ENSMUST00000145361
AA Change: Q13*

Predicted Effect

probably null
Transcript: ENSMUST00000147354
AA Change: Q13*

Predicted Effect

probably null
Transcript: ENSMUST00000155170
AA Change: Q13*

SMART Domains

Protein: ENSMUSP00000121440
Gene: ENSMUSG00000038668
AA Change: Q13*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	T	3: 32,766,043 (GRCm39)	I18F	probably benign	Het
Apol11a	C	T	15: 77,401,241 (GRCm39)	R243C	probably damaging	Het
Asap3	A	G	4: 135,968,508 (GRCm39)	M687V	probably benign	Het
Axdnd1	C	T	1: 156,220,426 (GRCm39)		probably benign	Het
Baz2b	A	G	2: 59,755,150 (GRCm39)	F1026S	probably damaging	Het
Bsg	T	C	10: 79,544,672 (GRCm39)	L70P	probably damaging	Het
Col10a1	A	G	10: 34,270,582 (GRCm39)	N185D	possibly damaging	Het
Col6a2	T	A	10: 76,450,891 (GRCm39)	N50I	possibly damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Defa25	A	G	8: 21,575,197 (GRCm39)		probably null	Het
Emc1	G	T	4: 139,081,582 (GRCm39)	R70L	probably damaging	Het
Fat1	T	C	8: 45,480,650 (GRCm39)	F3028S	probably damaging	Het
Fhit	T	C	14: 9,573,435 (GRCm38)	E205G	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm20830	T	G	Y: 6,916,792 (GRCm39)	E109A	probably benign	Homo
Grm1	A	T	10: 10,595,690 (GRCm39)	F646Y	probably damaging	Het
Hp1bp3	A	G	4: 137,944,481 (GRCm39)		probably benign	Het
Lce1d	G	A	3: 92,593,312 (GRCm39)	P34S	unknown	Het
Lrrc61	C	T	6: 48,545,839 (GRCm39)	R221*	probably null	Het
Map2	A	G	1: 66,470,749 (GRCm39)	N328D	probably damaging	Het
Mndal	T	A	1: 173,684,988 (GRCm39)	D527V	possibly damaging	Het
Mycbp2	T	G	14: 103,532,664 (GRCm39)	N430T	probably benign	Het
Myo1e	A	G	9: 70,283,887 (GRCm39)	Y861C	probably damaging	Het
Nav2	A	G	7: 49,213,851 (GRCm39)	T1622A	probably damaging	Het
Nom1	A	T	5: 29,654,617 (GRCm39)	H773L	possibly damaging	Het
Npc2	G	T	12: 84,803,919 (GRCm39)	P144Q	probably damaging	Het
Npnt	A	G	3: 132,655,774 (GRCm39)		probably benign	Het
Nxpe4	A	T	9: 48,304,678 (GRCm39)	Y255F	probably benign	Het
Obscn	G	A	11: 58,958,474 (GRCm39)	A3769V	possibly damaging	Het
Optc	T	C	1: 133,832,737 (GRCm39)	D121G	probably damaging	Het
Pard6a	T	C	8: 106,428,866 (GRCm39)	F26L	probably damaging	Het
Pcdhga4	T	A	18: 37,819,762 (GRCm39)	I437N	probably damaging	Het
Phf12	G	T	11: 77,914,417 (GRCm39)	V71F	probably damaging	Het
Phf21b	T	A	15: 84,679,317 (GRCm39)	S282C	probably damaging	Het
Pou5f1	T	C	17: 35,821,357 (GRCm39)	F323S	possibly damaging	Het
Psmd5	A	T	2: 34,757,023 (GRCm39)	I67N	probably damaging	Het
Pyroxd1	A	G	6: 142,303,182 (GRCm39)	K273R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpusd1	A	T	17: 25,949,352 (GRCm39)	H174L	probably damaging	Het
Ryr2	T	C	13: 11,910,106 (GRCm39)	K94R	probably benign	Het
Scn2b	A	G	9: 45,029,328 (GRCm39)	R3G	probably benign	Het
Sf3b2	A	T	19: 5,325,126 (GRCm39)	M782K	possibly damaging	Het
Skint7	A	G	4: 111,842,073 (GRCm39)		probably null	Het
Slc43a1	A	G	2: 84,687,184 (GRCm39)	I319V	possibly damaging	Het
Snupn	T	A	9: 56,890,247 (GRCm39)	M356K	probably damaging	Het
Spata31d1a	C	A	13: 59,848,378 (GRCm39)	R1250M	probably damaging	Het
Sprr2h	T	C	3: 92,294,216 (GRCm39)	V21A	unknown	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Stk36	A	T	1: 74,650,591 (GRCm39)	Q327L	probably benign	Het
Syne3	A	G	12: 104,909,622 (GRCm39)	I738T	probably benign	Het
Tcea3	A	T	4: 135,975,360 (GRCm39)	M1L	probably damaging	Het
Tead2	G	T	7: 44,867,526 (GRCm39)	R85L	probably damaging	Het
Thap7	T	C	16: 17,346,300 (GRCm39)	N228D	possibly damaging	Het
Trip11	T	A	12: 101,865,154 (GRCm39)	E173V	probably damaging	Het
Ttc38	T	A	15: 85,725,698 (GRCm39)	M187K	possibly damaging	Het
Vmn1r193	T	A	13: 22,403,138 (GRCm39)	T285S	possibly damaging	Het
Vmn2r106	T	C	17: 20,488,591 (GRCm39)	T603A	probably damaging	Het
Vps39	A	T	2: 120,163,897 (GRCm39)	M355K	probably damaging	Het
Wnt5b	G	T	6: 119,423,473 (GRCm39)	L51I	probably damaging	Het
Xxylt1	A	G	16: 30,826,626 (GRCm39)	Y230H	probably benign	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
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'- GGCCAGCTCATTTTCTCAGC -3'
(R):5'- AGATGGTGACCTTTCCTTGCC -3'

Sequencing Primer
(F):5'- TCTCAGCTGCTTCCCAAACAC -3'
(R):5'- ACTCATTCTGGGATTCCTTGTG -3'

Posted On

2018-02-27