Mutagenetix > Incidental Mutation

Incidental Mutation 'R2278:Lypla1'

242881

Institutional Source

Beutler Lab

Gene Symbol

Lypla1

Ensembl Gene

ENSMUSG00000025903

Gene Name

lysophospholipase 1

Synonyms

Pla1a, Gm39587

MMRRC Submission

040277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4878046-4916958 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 4911321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137647 (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
AA Change: I202S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027036
Gene: ENSMUSG00000025903
AA Change: I202S

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
AA Change: I168S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111191
Gene: ENSMUSG00000025903
AA Change: I168S

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: 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 benign
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
AA Change: I202S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137104
Gene: ENSMUSG00000025903
AA Change: I202S

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

noncoding transcript
Transcript: ENSMUST00000141278

Predicted Effect

probably benign
Transcript: ENSMUST00000150971
AA Change: I202S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137248
Gene: ENSMUSG00000025903
AA Change: I202S

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,201,400 (GRCm39)	D251G	probably damaging	Het
Aqp3	T	C	4: 41,093,836 (GRCm39)	D219G	probably damaging	Het
Arhgef15	C	A	11: 68,842,517 (GRCm39)	W404C	probably damaging	Het
Bdp1	T	A	13: 100,197,847 (GRCm39)	E846V	probably damaging	Het
Bdp1	C	A	13: 100,197,838 (GRCm39)	S849I	probably benign	Het
Bmp5	T	A	9: 75,683,830 (GRCm39)	N152K	possibly damaging	Het
Bpifb2	C	T	2: 153,720,399 (GRCm39)	Q53*	probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a1	A	G	3: 144,463,785 (GRCm39)	V164A	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gcn1	T	C	5: 115,749,234 (GRCm39)	I1922T	probably damaging	Het
Gnpat	A	G	8: 125,603,659 (GRCm39)	D179G	probably benign	Het
Hook1	A	G	4: 95,886,957 (GRCm39)	Q188R	probably benign	Het
Hsf4	G	A	8: 105,996,628 (GRCm39)	D18N	probably null	Het
Ifi44	T	C	3: 151,438,025 (GRCm39)	N421D	probably benign	Het
Igdcc4	C	T	9: 65,038,025 (GRCm39)	T801I	probably damaging	Het
Itgad	T	C	7: 127,804,342 (GRCm39)	S107P	possibly damaging	Het
Kank2	C	A	9: 21,681,080 (GRCm39)	M816I	probably damaging	Het
Kcnk18	T	C	19: 59,223,926 (GRCm39)	I357T	probably damaging	Het
Kcnma1	T	A	14: 23,593,151 (GRCm39)	R120*	probably null	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Mknk1	C	T	4: 115,732,690 (GRCm39)	A306V	probably damaging	Het
Ncoa6	A	T	2: 155,249,570 (GRCm39)	S1245T	possibly damaging	Het
Npas3	T	A	12: 53,687,285 (GRCm39)	V122E	possibly damaging	Het
Nrxn2	G	C	19: 6,531,883 (GRCm39)	Q789H	probably damaging	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Or3a1	T	C	11: 74,225,991 (GRCm39)	E22G	probably benign	Het
Or5p69	T	C	7: 107,967,288 (GRCm39)	V197A	probably benign	Het
Or5w12	A	G	2: 87,502,289 (GRCm39)	C141R	possibly damaging	Het
Otog	G	A	7: 45,949,468 (GRCm39)	V2369M	probably damaging	Het
Pfkp	T	C	13: 6,669,245 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prune2	A	G	19: 17,095,919 (GRCm39)	I474M	possibly damaging	Het
Psg22	C	A	7: 18,460,762 (GRCm39)	Q464K	possibly damaging	Het
Rp1	C	T	1: 4,418,250 (GRCm39)	S954N	possibly damaging	Het
Rps27l	T	A	9: 66,854,208 (GRCm39)	D34E	probably benign	Het
Sae1	A	C	7: 16,104,291 (GRCm39)	L106R	probably damaging	Het
Siglec1	T	A	2: 130,913,257 (GRCm39)	Q1553L	probably benign	Het
Slc11a2	A	G	15: 100,307,962 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,203,159 (GRCm39)	M556K	probably benign	Het
Slk	T	G	19: 47,608,188 (GRCm39)	I380M	probably damaging	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tiam2	G	A	17: 3,477,495 (GRCm39)	V573M	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tmem255b	C	T	8: 13,501,081 (GRCm39)	A106V	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Vps13c	A	G	9: 67,846,354 (GRCm39)	M2141V	probably benign	Het
Vwa5a	T	C	9: 38,634,503 (GRCm39)	Y143H	probably damaging	Het
Zfp280d	T	A	9: 72,246,055 (GRCm39)	C707*	probably null	Het
Zfp668	A	T	7: 127,465,998 (GRCm39)	N395K	probably benign	Het
Znhit6	G	T	3: 145,281,991 (GRCm39)		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
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
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'- GGCACAGTGCTTTATGTATCTGATAC -3'
(R):5'- CAATGCTCATTTGTAAAAGGCGATC -3'

Sequencing Primer
(F):5'- ACATAACATTGCCTTTGTGTTTGTC -3'
(R):5'- GTAAAAGGCGATCAGATTTTTAA -3'

Posted On

2014-10-16