Mutagenetix > Incidental Mutation

Incidental Mutation 'R6014:Lypla1'

502014

Institutional Source

Beutler Lab

Gene Symbol

Lypla1

Ensembl Gene

ENSMUSG00000025903

Gene Name

lysophospholipase 1

Synonyms

Pla1a, Gm39587

MMRRC Submission

044190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4878046-4916958 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 4878594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027036] [ENSMUST00000115529] [ENSMUST00000119612] [ENSMUST00000131119] [ENSMUST00000134384] [ENSMUST00000137887] [ENSMUST00000150971] [ENSMUST00000155020]

AlphaFold

P97823

Predicted Effect

probably benign
Transcript: ENSMUST00000027036

SMART Domains

Protein: ENSMUSP00000027036
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	226	2.5e-92	PFAM
Pfam:Abhydrolase_5	23	209	4.3e-14	PFAM
Pfam:Abhydrolase_3	82	170	2.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115529

SMART Domains

Protein: ENSMUSP00000111191
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	125	1.5e-49	PFAM
Pfam:Abhydrolase_2	122	192	2.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119612

SMART Domains

Protein: ENSMUSP00000137647
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	92	1.1e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000131119

SMART Domains

Protein: ENSMUSP00000118453
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	1	142	8.1e-56	PFAM
Pfam:Abhydrolase_5	10	141	7.8e-11	PFAM
Pfam:Abhydrolase_6	11	139	9.2e-8	PFAM
Pfam:Abhydrolase_3	20	139	4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134384

SMART Domains

Protein: ENSMUSP00000137104
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	224	5.6e-85	PFAM
Pfam:Abhydrolase_5	23	209	4e-14	PFAM
Pfam:Abhydrolase_6	24	160	2.5e-10	PFAM
Pfam:Abhydrolase_3	85	195	2.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137887

SMART Domains

Protein: ENSMUSP00000119456
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	142	5.6e-48	PFAM
Pfam:Abhydrolase_5	23	141	9.3e-10	PFAM
Pfam:Abhydrolase_6	24	141	7.2e-12	PFAM
Pfam:Abhydrolase_3	62	140	2.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150971

SMART Domains

Protein: ENSMUSP00000137248
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	215	1.3e-84	PFAM
Pfam:Abhydrolase_5	23	209	4.4e-14	PFAM
Pfam:Abhydrolase_6	24	160	3.6e-10	PFAM
Pfam:Abhydrolase_3	85	195	1.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155020

SMART Domains

Protein: ENSMUSP00000136108
Gene: ENSMUSG00000104217

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	T	2: 35,244,881 (GRCm39)	M157K	probably benign	Het
A2ml1	C	T	6: 128,548,948 (GRCm39)	C278Y	probably damaging	Het
Abcc2	A	T	19: 43,815,174 (GRCm39)	Q1187L	probably benign	Het
Adcy9	A	T	16: 4,236,683 (GRCm39)	Y6N	probably damaging	Het
Adh1	T	C	3: 137,992,559 (GRCm39)	I225T	probably benign	Het
Akap11	A	T	14: 78,749,939 (GRCm39)	I816K	probably benign	Het
Ap1b1	T	A	11: 4,969,364 (GRCm39)	M240K	possibly damaging	Het
Apex1	A	T	14: 51,162,982 (GRCm39)	T17S	probably benign	Het
Arhgap21	C	T	2: 20,886,616 (GRCm39)	G26D	probably damaging	Het
Bahcc1	A	G	11: 120,180,615 (GRCm39)	Y2613C	probably benign	Het
Baz1b	C	T	5: 135,246,248 (GRCm39)	R566W	probably damaging	Het
Casp8ap2	A	T	4: 32,641,400 (GRCm39)	Y818F	probably damaging	Het
Col3a1	T	A	1: 45,360,739 (GRCm39)	C56*	probably null	Het
Coro2a	G	A	4: 46,542,261 (GRCm39)	P371S	probably damaging	Het
Cyp2a22	T	A	7: 26,638,605 (GRCm39)		probably null	Het
Dpysl3	T	A	18: 43,494,132 (GRCm39)	I183F	probably damaging	Het
Drc1	A	T	5: 30,502,993 (GRCm39)	N172I	probably damaging	Het
Dst	T	C	1: 34,303,915 (GRCm39)	Y1378H	probably damaging	Het
Dync2i2	C	T	2: 29,921,763 (GRCm39)	A533T	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l3	A	T	17: 69,590,955 (GRCm39)	T91S	probably damaging	Het
Exoc4	T	C	6: 33,452,932 (GRCm39)	V474A	probably benign	Het
Fam229b	G	A	10: 38,994,989 (GRCm39)	T56I	probably damaging	Het
Gfm2	A	G	13: 97,288,169 (GRCm39)		probably null	Het
Git2	C	T	5: 114,871,938 (GRCm39)	E152K	probably benign	Het
Golt1b	T	A	6: 142,341,943 (GRCm39)	I109N	probably damaging	Het
Grid2ip	T	A	5: 143,373,578 (GRCm39)	M783K	possibly damaging	Het
Inpp5a	A	G	7: 139,154,898 (GRCm39)	Y339C	probably damaging	Het
Isoc2a	T	C	7: 4,894,625 (GRCm39)	S103P	probably damaging	Het
Itih4	C	A	14: 30,614,586 (GRCm39)	Q483K	probably benign	Het
Kansl2	A	G	15: 98,418,197 (GRCm39)		probably null	Het
Kdm5d	G	A	Y: 921,528 (GRCm39)	A509T	probably benign	Het
Krt13	A	T	11: 100,008,437 (GRCm39)	D433E	unknown	Het
Lat2	C	T	5: 134,632,308 (GRCm39)	V142M	probably damaging	Het
Lemd1	A	C	1: 132,184,463 (GRCm39)	*102S	probably null	Het
Lrfn2	T	C	17: 49,376,934 (GRCm39)	L5P	possibly damaging	Het
Lrrc4c	T	G	2: 97,459,557 (GRCm39)		probably null	Het
Magi2	G	A	5: 20,816,091 (GRCm39)	G744R	probably damaging	Het
Myh14	T	A	7: 44,274,502 (GRCm39)	E948V	probably null	Het
Myo5a	C	A	9: 75,074,489 (GRCm39)	Y799*	probably null	Het
Nacc1	A	C	8: 85,401,700 (GRCm39)	M371R	possibly damaging	Het
Nlrp5	T	G	7: 23,109,372 (GRCm39)	M106R	probably benign	Het
Oas1h	C	T	5: 121,005,229 (GRCm39)	H226Y	possibly damaging	Het
Obscn	A	C	11: 58,929,690 (GRCm39)	I5175R	probably damaging	Het
Pcdh7	T	A	5: 57,878,497 (GRCm39)	I684N	probably damaging	Het
Pcdhb3	T	A	18: 37,435,706 (GRCm39)	N557K	probably damaging	Het
Pde3b	T	C	7: 114,015,675 (GRCm39)	L297S	probably damaging	Het
Pigv	G	T	4: 133,392,740 (GRCm39)	H143Q	probably benign	Het
Ptk2	T	G	15: 73,176,293 (GRCm39)	Y251S	possibly damaging	Het
Ralgds	A	G	2: 28,433,673 (GRCm39)	N219S	probably damaging	Het
Sardh	C	A	2: 27,087,540 (GRCm39)		probably null	Het
Serpina3b	A	T	12: 104,097,356 (GRCm39)	K212N	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,971 (GRCm39)	N461D	probably benign	Het
Shisa2	A	T	14: 59,867,357 (GRCm39)	Q203L	probably damaging	Het
Shmt1	C	A	11: 60,688,383 (GRCm39)	G255V	probably damaging	Het
Socs1	T	A	16: 10,602,357 (GRCm39)	I127F	possibly damaging	Het
Srcap	A	T	7: 127,137,922 (GRCm39)	T1091S	probably benign	Het
Syt14	A	G	1: 192,613,003 (GRCm39)	I599T	probably damaging	Het
Tep1	A	T	14: 51,084,457 (GRCm39)	N907K	probably benign	Het
Themis2	A	G	4: 132,513,291 (GRCm39)	Y312H	probably benign	Het
Tubgcp5	T	G	7: 55,473,357 (GRCm39)	S812A	probably benign	Het
Ush2a	A	T	1: 188,582,237 (GRCm39)	I3767F	probably damaging	Het
Usp40	T	A	1: 87,907,738 (GRCm39)	E626V	probably damaging	Het
Utrn	T	C	10: 12,566,620 (GRCm39)	R1181G	probably benign	Het
Vmn2r117	T	A	17: 23,698,535 (GRCm39)	I13F	probably damaging	Het
Wdr48	G	T	9: 119,753,775 (GRCm39)	V646F	probably damaging	Het
Wdr64	T	C	1: 175,633,556 (GRCm39)	F936L	possibly damaging	Het

Other mutations in Lypla1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Lypla1	APN	1	4,898,810 (GRCm39)	missense	probably damaging	1.00
IGL01571:Lypla1	APN	1	4,915,211 (GRCm39)	missense	probably benign	0.15
IGL01592:Lypla1	APN	1	4,898,874 (GRCm39)	critical splice donor site	probably null
IGL01865:Lypla1	APN	1	4,907,259 (GRCm39)	missense	probably damaging	0.96
IGL02442:Lypla1	APN	1	4,902,610 (GRCm39)	splice site	probably benign
IGL03005:Lypla1	APN	1	4,902,613 (GRCm39)	splice site	probably benign
R0095:Lypla1	UTSW	1	4,900,550 (GRCm39)	splice site	probably benign
R2278:Lypla1	UTSW	1	4,911,321 (GRCm39)	splice site	probably null
R3766:Lypla1	UTSW	1	4,911,201 (GRCm39)	missense	probably benign	0.04
R5805:Lypla1	UTSW	1	4,900,517 (GRCm39)	missense	possibly damaging	0.54
R6027:Lypla1	UTSW	1	4,907,299 (GRCm39)	critical splice donor site	probably null
R6842:Lypla1	UTSW	1	4,902,563 (GRCm39)	missense	probably benign	0.14
R7285:Lypla1	UTSW	1	4,911,321 (GRCm39)	missense	probably benign
R7564:Lypla1	UTSW	1	4,878,590 (GRCm39)	critical splice donor site	probably null
R9105:Lypla1	UTSW	1	4,911,282 (GRCm39)	missense	probably damaging	1.00
R9496:Lypla1	UTSW	1	4,898,813 (GRCm39)	start gained	probably benign
R9582:Lypla1	UTSW	1	4,911,248 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- AATTCCGAGGTCCAGTGCTG -3'
(R):5'- GACCAGTAAGTAGCTGCACGAC -3'

Sequencing Primer
(F):5'- CGAGGTCCAGTGCTGAAACAG -3'
(R):5'- GCACGACCCCATCTCCTTAGG -3'

Posted On

2018-02-19