Mutagenetix > Incidental Mutation

Incidental Mutation 'R6692:Lypla2'

527907

Institutional Source

Beutler Lab

Gene Symbol

Lypla2

Ensembl Gene

ENSMUSG00000028670

Gene Name

lysophospholipase 2

Synonyms

LysoII, lysophospholipase II

MMRRC Submission

044810-MU

Accession Numbers

Essential gene?

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

Stock #

R6692 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135695535-135699937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 135698173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 26 (A26S)

Ref Sequence

ENSEMBL: ENSMUSP00000101478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067567] [ENSMUST00000102540] [ENSMUST00000102541] [ENSMUST00000105851] [ENSMUST00000105852]

AlphaFold

Q9WTL7

Predicted Effect

probably benign
Transcript: ENSMUST00000067567
AA Change: A26S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000064204
Gene: ENSMUSG00000028670
AA Change: A26S

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: ENSMUST00000105851

SMART Domains

Protein: ENSMUSP00000101477
Gene: ENSMUSG00000028669

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:PITH	31	175	1.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105852
AA Change: A26S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101478
Gene: ENSMUSG00000028670
AA Change: A26S

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

noncoding transcript
Transcript: ENSMUST00000128929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150430

Meta Mutation Damage Score

0.1417

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (38/38)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl1	C	T	3: 107,582,401 (GRCm39)	G54D	probably damaging	Het
Aldh1b1	T	C	4: 45,803,427 (GRCm39)	C322R	probably damaging	Het
Cdc14b	T	C	13: 64,363,377 (GRCm39)	I258V	probably damaging	Het
Cenph	T	C	13: 100,909,243 (GRCm39)	I55V	probably benign	Het
Cep290	T	A	10: 100,405,006 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,563,919 (GRCm39)	Y431C	probably damaging	Het
Cyp4f17	T	C	17: 32,725,950 (GRCm39)	S28P	possibly damaging	Het
Cyp4f40	C	G	17: 32,894,716 (GRCm39)	T427S	possibly damaging	Het
Exoc2	A	G	13: 31,119,490 (GRCm39)	I137T	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
G3bp1	T	A	11: 55,384,335 (GRCm39)	D168E	probably benign	Het
Impg2	T	A	16: 56,072,696 (GRCm39)	L376H	probably damaging	Het
Kdm4d	A	T	9: 14,374,361 (GRCm39)	M499K	probably benign	Het
Lonp1	C	T	17: 56,926,230 (GRCm39)	V426M	probably damaging	Het
Map3k13	T	C	16: 21,723,987 (GRCm39)	V323A	possibly damaging	Het
Mdfic2	T	G	6: 98,225,169 (GRCm39)	H38P	possibly damaging	Het
Mov10	A	G	3: 104,725,360 (GRCm39)	L83P	probably damaging	Het
Mphosph9	G	T	5: 124,398,179 (GRCm39)	A1039D	probably damaging	Het
Nedd1	T	C	10: 92,534,199 (GRCm39)	K317R	possibly damaging	Het
Or10ag55-ps1	A	G	2: 87,139,336 (GRCm39)	T68A	possibly damaging	Het
Pde3a	T	A	6: 141,425,072 (GRCm39)	S623T	probably damaging	Het
Pld1	T	A	3: 28,095,348 (GRCm39)	M227K	probably benign	Het
Rell1	T	G	5: 64,095,210 (GRCm39)	K85N	probably damaging	Het
Rhbdf1	T	C	11: 32,165,652 (GRCm39)	T93A	probably damaging	Het
Sccpdh	T	A	1: 179,511,792 (GRCm39)	M88K	possibly damaging	Het
Siae	T	G	9: 37,554,095 (GRCm39)		probably null	Het
Slc22a16	G	A	10: 40,479,901 (GRCm39)	E637K	unknown	Het
Stk19	C	T	17: 35,043,770 (GRCm39)	G95S	probably benign	Het
Stpg2	G	A	3: 139,228,738 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,358,057 (GRCm39)	F30I	probably damaging	Het
Svil	A	G	18: 5,082,853 (GRCm39)	E748G	probably damaging	Het
Swap70	T	A	7: 109,869,126 (GRCm39)	H306Q	probably benign	Het
Try10	G	A	6: 41,334,755 (GRCm39)	G227D	probably damaging	Het
Ttn	T	C	2: 76,726,713 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,749,436 (GRCm39)	H3871L	probably benign	Het
Vmn1r231	T	C	17: 21,110,745 (GRCm39)	I57V	possibly damaging	Het
Vpreb1a	A	G	16: 16,686,666 (GRCm39)	S75P	probably damaging	Het
Zkscan5	A	G	5: 145,157,894 (GRCm39)		probably null	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
R8074:Lypla2	UTSW	4	135,697,112 (GRCm39)	critical splice donor site	probably null
X0024:Lypla2	UTSW	4	135,696,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCACCCTGTGTCTCCAAG -3'
(R):5'- TAAACCAGGAAGGCTTCTCTC -3'

Sequencing Primer
(F):5'- AATGAGACAGGCAGGTCCCC -3'
(R):5'- AGGAAGGCTTCTCTCCCCTG -3'

Posted On

2018-07-23