Mutagenetix > Incidental Mutation

Incidental Mutation 'R5619:Lpar1'

439695

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

043278-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58435255-58553898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58487155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 39 (K39E)

Ref Sequence

ENSEMBL: ENSMUSP00000123694 (fasta)

Gene Model

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

AlphaFold

P61793

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055018
AA Change: K39E

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: K39E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107570
AA Change: K21E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: K21E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107571
AA Change: K39E

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: K39E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107574
AA Change: K39E

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: K39E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107575
AA Change: K39E

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: K39E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119701

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145361
AA Change: K39E

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147354
AA Change: K39E

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155170
AA Change: K39E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121440
Gene: ENSMUSG00000038668
AA Change: K39E

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

Meta Mutation Damage Score

0.0947

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgre1	T	G	17: 57,727,437 (GRCm39)	L456V	probably benign	Het
Adgrv1	C	T	13: 81,620,619 (GRCm39)	G3943R	probably damaging	Het
Akap9	A	G	5: 4,004,760 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,106,948 (GRCm39)	I791F	probably damaging	Het
BC004004	C	G	17: 29,501,703 (GRCm39)	P81A	probably damaging	Het
Brca2	C	A	5: 150,480,579 (GRCm39)	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,719,322 (GRCm39)	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,080,603 (GRCm39)	S445F	probably benign	Het
Comt	T	C	16: 18,230,469 (GRCm39)	E80G	probably damaging	Het
Coq7	T	C	7: 118,126,709 (GRCm39)		probably benign	Het
Coro7	C	A	16: 4,494,799 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,228 (GRCm39)	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,581 (GRCm39)	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885 (GRCm39)	I2193M	probably benign	Het
Eipr1	A	G	12: 28,917,078 (GRCm39)	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,778,469 (GRCm39)	H447Q	probably benign	Het
Galk2	A	T	2: 125,817,317 (GRCm39)	R369*	probably null	Het
Gli2	G	A	1: 118,764,485 (GRCm39)	A1222V	probably benign	Het
Golim4	T	A	3: 75,813,802 (GRCm39)	K141*	probably null	Het
Gtpbp3	G	T	8: 71,943,692 (GRCm39)		probably benign	Het
Gzmd	C	T	14: 56,367,224 (GRCm39)	A223T	probably benign	Het
Igf2r	T	C	17: 12,958,221 (GRCm39)	R151G	probably damaging	Het
Itga8	T	A	2: 12,270,139 (GRCm39)	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,304,919 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,602 (GRCm39)	Y198H	probably benign	Het
Klhl29	A	T	12: 5,190,587 (GRCm39)	M136K	probably benign	Het
Lipf	A	T	19: 33,944,292 (GRCm39)	Y167F	possibly damaging	Het
Mbtd1	T	A	11: 93,820,705 (GRCm39)		probably null	Het
Myo1a	T	A	10: 127,554,413 (GRCm39)	N794K	probably benign	Het
Nmrk1	T	C	19: 18,622,452 (GRCm39)	L177P	possibly damaging	Het
Noxa1	C	T	2: 24,975,988 (GRCm39)	E401K	probably damaging	Het
Or10g9b	T	A	9: 39,918,039 (GRCm39)	M69L	probably benign	Het
Or4f53	A	T	2: 111,087,856 (GRCm39)	Y132F	probably damaging	Het
Ostm1	T	A	10: 42,555,325 (GRCm39)	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,848,800 (GRCm39)	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,489,470 (GRCm39)	K276R	probably benign	Het
Pfkp	A	T	13: 6,648,765 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,153,270 (GRCm39)	D142G	probably damaging	Het
Pkp3	T	C	7: 140,668,419 (GRCm39)	L556P	probably damaging	Het
Plb1	C	A	5: 32,490,841 (GRCm39)	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,047,012 (GRCm39)	S770G	possibly damaging	Het
Polk	A	T	13: 96,620,064 (GRCm39)	I733N	probably damaging	Het
Potegl	T	C	2: 23,147,017 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,136,156 (GRCm39)	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,066,142 (GRCm39)	T189A	probably benign	Het
Raph1	T	C	1: 60,529,414 (GRCm39)		probably benign	Het
Rbm22	T	A	18: 60,693,899 (GRCm39)	M1K	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf186	T	A	4: 138,694,715 (GRCm39)	I85N	probably benign	Het
Ryr2	C	A	13: 11,723,088 (GRCm39)	R2517L	probably damaging	Het
Sec63	T	A	10: 42,665,378 (GRCm39)	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 106,974,838 (GRCm39)	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,423,947 (GRCm39)	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Spata46	A	T	1: 170,136,490 (GRCm39)	I14F	probably damaging	Het
Speer4b	T	C	5: 27,703,815 (GRCm39)	H106R	possibly damaging	Het
Spint4	T	C	2: 164,542,761 (GRCm39)	L118P	probably benign	Het
Sptbn5	A	G	2: 119,880,613 (GRCm39)		noncoding transcript	Het
Tgfbr3	A	T	5: 107,288,380 (GRCm39)	I427N	probably benign	Het
Thbs2	C	A	17: 14,901,506 (GRCm39)	C491F	probably damaging	Het
Tmem232	T	A	17: 65,793,506 (GRCm39)	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,197 (GRCm39)	C585*	probably null	Het
Ttc13	A	T	8: 125,406,683 (GRCm39)		probably benign	Het
Tuba8	C	T	6: 121,202,854 (GRCm39)	A389V	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp25	A	G	16: 76,830,833 (GRCm39)	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,387,529 (GRCm39)	K681*	probably null	Het
Vmn2r88	A	G	14: 51,651,367 (GRCm39)	E235G	probably damaging	Het
Vps29	T	A	5: 122,492,511 (GRCm39)		probably benign	Het
Wdr1	A	C	5: 38,686,879 (GRCm39)	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,741,734 (GRCm39)	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,741,735 (GRCm39)	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,830,470 (GRCm39)	Y398H	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
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'- TCCAGCGAAGAAGTCTGCAG -3'
(R):5'- TCCCAAGTGACCAGTGTAAATTTTG -3'

Sequencing Primer
(F):5'- AAGTCTGCAGCAGCCAG -3'
(R):5'- GGGCCAGATTTTTCAAATTCTTTGC -3'

Posted On

2016-11-08