Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Lypla1'

480083

Institutional Source

Beutler Lab

Gene Symbol

Lypla1

Ensembl Gene

ENSMUSG00000025903

Gene Name

lysophospholipase 1

Synonyms

Pla1a, Gm39587

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4878046-4916958 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 4907299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137248 (fasta)

Gene Model

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

AlphaFold

P97823

Predicted Effect

probably null
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 null
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 null
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 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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000141278

Predicted Effect

probably null
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 null
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

0.9753

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,289,003 (GRCm39)	V2299A	probably benign	Het
Acacb	A	G	5: 114,303,661 (GRCm39)	D28G	probably benign	Het
Adamts6	G	A	13: 104,616,043 (GRCm39)	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,073,078 (GRCm39)	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ank2	T	C	3: 126,791,528 (GRCm39)	T763A	possibly damaging	Het
Armc9	G	C	1: 86,172,389 (GRCm39)	L105F	probably damaging	Het
Asah2	T	C	19: 32,022,351 (GRCm39)	N228D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,390,794 (GRCm39)	V693G	probably damaging	Het
Bptf	T	C	11: 106,965,771 (GRCm39)	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,563,860 (GRCm39)		probably null	Het
Csmd2	G	A	4: 128,453,739 (GRCm39)	D3475N	unknown	Het
Dctn5	T	C	7: 121,732,564 (GRCm39)		probably benign	Het
Dhrs4	A	G	14: 55,723,580 (GRCm39)	K18E	probably benign	Het
Eci2	A	T	13: 35,169,930 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,851,922 (GRCm39)	F319L	probably benign	Het
Elane	A	T	10: 79,722,852 (GRCm39)	H86L	probably damaging	Het
Endod1	A	T	9: 14,268,893 (GRCm39)	Y197*	probably null	Het
Eno4	A	G	19: 58,935,262 (GRCm39)	D158G	probably damaging	Het
Fam217a	T	A	13: 35,094,977 (GRCm39)	T170S	possibly damaging	Het
Fbxo7	A	G	10: 85,883,950 (GRCm39)	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,120,692 (GRCm39)	A2E	possibly damaging	Het
Gan	A	G	8: 117,885,034 (GRCm39)	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,293,531 (GRCm39)	N194K	possibly damaging	Het
Gnptab	A	G	10: 88,269,087 (GRCm39)	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,678,646 (GRCm39)	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,823,499 (GRCm39)	H56N	probably damaging	Het
Kank3	C	T	17: 34,037,088 (GRCm39)	P131S	possibly damaging	Het
Kif14	T	C	1: 136,410,797 (GRCm39)		probably null	Het
Kif1a	A	T	1: 92,953,365 (GRCm39)	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Man2b1	C	T	8: 85,823,381 (GRCm39)	T905I	probably damaging	Het
Mmp15	C	A	8: 96,098,804 (GRCm39)	H544N	probably benign	Het
Myh7	A	T	14: 55,208,259 (GRCm39)	N1933K	probably benign	Het
Ndst4	G	T	3: 125,507,025 (GRCm39)	A730S	probably benign	Het
Nmur1	G	A	1: 86,315,053 (GRCm39)	Q238*	probably null	Het
Nwd2	C	T	5: 63,965,563 (GRCm39)	P1716S	possibly damaging	Het
Or13c7c	A	G	4: 43,835,842 (GRCm39)	V216A	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k38	T	G	2: 86,488,148 (GRCm39)	Y218S	probably damaging	Het
P2ry6	T	G	7: 100,587,715 (GRCm39)	M215L	probably benign	Het
Parp4	G	A	14: 56,866,615 (GRCm39)	E1060K	probably benign	Het
Pde10a	A	G	17: 9,183,509 (GRCm39)	I822V	possibly damaging	Het
Pira13	T	C	7: 3,827,638 (GRCm39)	Y173C	possibly damaging	Het
Pkd1l1	C	A	11: 8,866,272 (GRCm39)	G528*	probably null	Het
Ptk2	T	A	15: 73,101,762 (GRCm39)	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613 (GRCm38)	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,276,187 (GRCm39)	Y68H	probably benign	Het
Ripk4	A	G	16: 97,545,274 (GRCm39)	W458R	probably damaging	Het
Ros1	G	T	10: 52,040,064 (GRCm39)	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,497,808 (GRCm39)		probably benign	Het
Sarm1	T	A	11: 78,374,384 (GRCm39)	M577L	probably benign	Het
Scin	T	C	12: 40,127,515 (GRCm39)	Y425C	probably damaging	Het
Serpina12	T	A	12: 103,997,336 (GRCm39)	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,571,291 (GRCm39)	Y69*	probably null	Het
Skint6	T	C	4: 112,953,761 (GRCm39)		probably null	Het
Slc7a1	A	C	5: 148,270,774 (GRCm39)	I564S	possibly damaging	Het
Smc6	T	A	12: 11,356,179 (GRCm39)	Y933N	probably benign	Het
Sp110	T	C	1: 85,505,039 (GRCm39)	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,581,399 (GRCm39)	R114S	probably damaging	Het
Trim11	C	T	11: 58,869,289 (GRCm39)	A75V	possibly damaging	Het
Tufm	T	A	7: 126,086,920 (GRCm39)	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,993,503 (GRCm39)	D194E	probably benign	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
R6014:Lypla1	UTSW	1	4,878,594 (GRCm39)	splice 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'- TCCTGTAGAGTCTGAGGAGTC -3'
(R):5'- GGGCAGAAATTATTTCCAGTCC -3'

Sequencing Primer
(F):5'- GAATTGAACTCAGGACCTCTGGATC -3'
(R):5'- GGCAGAAATTATTTCCAGTCCAATCC -3'

Posted On

2017-06-26