Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Lypla2'

620401

Institutional Source

Beutler Lab

Gene Symbol

Lypla2

Ensembl Gene

ENSMUSG00000028670

Gene Name

lysophospholipase 2

Synonyms

LysoII, lysophospholipase II

MMRRC Submission

067508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R8074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135695535-135699937 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 135697112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067567] [ENSMUST00000102540] [ENSMUST00000102541] [ENSMUST00000105852] [ENSMUST00000143304] [ENSMUST00000149636]

AlphaFold

Q9WTL7

Predicted Effect

probably null
Transcript: ENSMUST00000067567

SMART Domains

Protein: ENSMUSP00000064204
Gene: ENSMUSG00000028670

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	11	228	4.8e-89	PFAM
Pfam:Abhydrolase_5	26	211	2.6e-12	PFAM
Pfam:Abhydrolase_6	27	167	6.5e-13	PFAM
Pfam:Abhydrolase_3	80	170	3.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102540

SMART Domains

Protein: ENSMUSP00000099599
Gene: ENSMUSG00000028671

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	1	194	1.9e-14	PFAM
Pfam:adh_short	2	142	4.4e-14	PFAM
Pfam:KR	3	146	3.6e-10	PFAM
Pfam:Polysacc_synt_2	4	193	8.8e-14	PFAM
Pfam:NAD_binding_10	4	213	1.1e-11	PFAM
Pfam:Epimerase	4	269	3.7e-55	PFAM
Pfam:3Beta_HSD	5	171	3.6e-18	PFAM
Pfam:NAD_binding_4	6	230	1.6e-11	PFAM
Pfam:Epimerase_Csub	282	343	3.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102541

SMART Domains

Protein: ENSMUSP00000099600
Gene: ENSMUSG00000028671

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	1	184	3.5e-14	PFAM
Pfam:KR	3	144	9.5e-10	PFAM
Pfam:Polysacc_synt_2	4	193	7.6e-14	PFAM
Pfam:Epimerase	4	269	3.5e-54	PFAM
Pfam:3Beta_HSD	5	172	2e-18	PFAM
Pfam:GDP_Man_Dehyd	5	332	2.5e-60	PFAM
Pfam:NAD_binding_4	62	233	2.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105852

SMART Domains

Protein: ENSMUSP00000101478
Gene: ENSMUSG00000028670

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	11	228	2.3e-92	PFAM
Pfam:Abhydrolase_5	26	211	3.1e-12	PFAM
Pfam:Abhydrolase_6	27	225	1.2e-7	PFAM
Pfam:DLH	85	223	4.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143304

SMART Domains

Protein: ENSMUSP00000119514
Gene: ENSMUSG00000028671

Domain	Start	End	E-Value	Type
Pfam:Epimerase	4	55	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149636

SMART Domains

Protein: ENSMUSP00000117923
Gene: ENSMUSG00000028671

Domain	Start	End	E-Value	Type
Pfam:Epimerase	4	58	1.3e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,320 (GRCm39)	I1380L	probably benign	Het
Adcy3	T	C	12: 4,184,420 (GRCm39)	V32A	probably benign	Het
Ano3	T	A	2: 110,780,577 (GRCm39)		probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Cd300lg	T	G	11: 101,932,427 (GRCm39)	L4R	probably damaging	Het
Cfap57	T	A	4: 118,426,822 (GRCm39)	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,390,213 (GRCm39)	M132I	probably benign	Het
Clec18a	T	G	8: 111,798,230 (GRCm39)	D489A	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Efna4	G	A	3: 89,242,633 (GRCm39)	T87M	probably benign	Het
Fam229b	T	C	10: 38,996,255 (GRCm39)	R42G	probably null	Het
Gm17175	C	T	14: 51,809,080 (GRCm39)	M95I	probably damaging	Het
Grk4	A	G	5: 34,833,482 (GRCm39)	E96G	probably benign	Het
Helb	A	C	10: 119,925,321 (GRCm39)	F1019V	probably benign	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,513,582 (GRCm39)	F342L	probably benign	Het
Idua	C	A	5: 108,828,441 (GRCm39)	A265E	possibly damaging	Het
Jup	T	G	11: 100,277,113 (GRCm39)	T32P	probably damaging	Het
Kidins220	A	G	12: 25,107,715 (GRCm39)	K1632E	probably benign	Het
Lef1	G	A	3: 130,997,954 (GRCm39)		probably null	Het
Mall	A	G	2: 127,571,785 (GRCm39)	M1T	probably null	Het
Mettl25	G	T	10: 105,661,941 (GRCm39)	A343E	probably benign	Het
Mpdz	T	C	4: 81,267,324 (GRCm39)	N940S	probably benign	Het
Nsun4	A	T	4: 115,908,631 (GRCm39)	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,224,109 (GRCm39)	F70Y	possibly damaging	Het
Or1e17	T	A	11: 73,831,213 (GRCm39)	V47D	possibly damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or52e8	A	T	7: 104,624,934 (GRCm39)	I90N	probably damaging	Het
Or5ac20	A	G	16: 59,104,549 (GRCm39)	F104L	probably benign	Het
Or8g32	A	T	9: 39,305,242 (GRCm39)	I49F	probably damaging	Het
Or8k3	C	G	2: 86,058,473 (GRCm39)	V281L	possibly damaging	Het
Pabpc4	A	T	4: 123,180,508 (GRCm39)	M77L	probably benign	Het
Phactr3	A	G	2: 177,944,589 (GRCm39)	E429G	probably damaging	Het
Polr3b	A	G	10: 84,549,523 (GRCm39)	D915G	probably damaging	Het
Pramel14	A	T	4: 143,718,424 (GRCm39)	F340I	probably benign	Het
Prkcg	T	A	7: 3,372,037 (GRCm39)	M501K	probably damaging	Het
Prkch	G	A	12: 73,747,041 (GRCm39)	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,769,581 (GRCm39)	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,448,263 (GRCm39)	D373E	probably damaging	Het
Scfd2	G	T	5: 74,680,257 (GRCm39)	Q299K	probably benign	Het
Septin2	A	G	1: 93,433,283 (GRCm39)	D315G	probably benign	Het
Sf3a1	T	A	11: 4,125,435 (GRCm39)	Y408*	probably null	Het
Siglecf	A	T	7: 43,001,214 (GRCm39)	N61Y	possibly damaging	Het
Sis	A	T	3: 72,824,531 (GRCm39)	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,391,658 (GRCm39)	T307S	possibly damaging	Het
Spag9	T	A	11: 94,002,877 (GRCm39)	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,808,064 (GRCm39)	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,840,990 (GRCm39)	K12T	probably damaging	Het
Stam2	A	T	2: 52,596,438 (GRCm39)	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,057,216 (GRCm39)		probably null	Het
Tmem121b	T	C	6: 120,469,869 (GRCm39)	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,868,850 (GRCm39)	E473G	probably damaging	Het
Tnxb	T	A	17: 34,922,955 (GRCm39)	S2513T	probably benign	Het
Ttc16	A	T	2: 32,664,135 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,799,578 (GRCm39)	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,417,475 (GRCm39)	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,312,904 (GRCm39)	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,455,064 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,398,321 (GRCm39)	I941L	probably benign	Het
Zbtb24	A	G	10: 41,327,228 (GRCm39)	D38G	probably damaging	Het
Zfp628	T	C	7: 4,923,205 (GRCm39)	C476R	probably damaging	Het
Zfp831	A	C	2: 174,486,528 (GRCm39)	N401T	possibly damaging	Het

Other mutations in Lypla2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02089:Lypla2	APN	4	135,696,932 (GRCm39)	missense	probably benign
R1353:Lypla2	UTSW	4	135,697,778 (GRCm39)	missense	probably null	0.15
R2171:Lypla2	UTSW	4	135,697,915 (GRCm39)	splice site	probably null
R4177:Lypla2	UTSW	4	135,696,403 (GRCm39)	unclassified	probably benign
R6692:Lypla2	UTSW	4	135,698,173 (GRCm39)	missense	probably benign	0.00
X0024:Lypla2	UTSW	4	135,696,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGGAATCCCGTTCTTCATC -3'
(R):5'- CTAAGATGTTCTGGCCCTCC -3'

Sequencing Primer
(F):5'- CTCATGTTCAATCAAAGCCTTGACTG -3'
(R):5'- ACATGAAGATGGTGATGCCCTCC -3'

Posted On

2020-01-23