Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Plaa'

6630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plaa

Ensembl Gene

ENSMUSG00000028577

Gene Name

phospholipase A2, activating protein

Synonyms

D4Ertd618e, Ufd3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

94567514-94603244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94582607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 431 (Y431H)

Ref Sequence

ENSEMBL: ENSMUSP00000102724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107107]

AlphaFold

P27612

Predicted Effect

probably benign
Transcript: ENSMUST00000107107
AA Change: Y431H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: Y431H

Domain	Start	End	E-Value	Type
WD40	7	47	4.46e-1	SMART
WD40	54	98	8.49e-3	SMART
WD40	101	139	1.72e-3	SMART
WD40	140	179	8.81e-10	SMART
WD40	180	218	3.22e-3	SMART
WD40	220	259	7.33e-7	SMART
WD40	260	298	6.79e-2	SMART
Pfam:PFU	345	459	2.3e-43	PFAM
Pfam:PUL	535	789	1.4e-69	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000127656
AA Change: Y60H

SMART Domains

Protein: ENSMUSP00000116530
Gene: ENSMUSG00000028577
AA Change: Y60H

Domain	Start	End	E-Value	Type
Pfam:PFU	1	89	2.6e-34	PFAM
Pfam:PUL	142	214	7.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136669

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous KO is embryonic lethal. A hypomorphic homozygous point mutation affects neuromuscular junctions and Purkinje cell development, causing early-onset neurodysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Plaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Plaa	APN	4	94574047	missense	probably benign
IGL01695:Plaa	APN	4	94574037	nonsense	probably null
IGL01984:Plaa	APN	4	94571685	splice site	probably null
IGL02430:Plaa	APN	4	94582573	missense	probably benign	0.09
IGL02552:Plaa	APN	4	94582480	critical splice donor site	probably null
IGL03238:Plaa	APN	4	94583896	missense	probably benign	0.23
R1353:Plaa	UTSW	4	94571689	missense	possibly damaging	0.69
R2937:Plaa	UTSW	4	94569459	missense	probably damaging	1.00
R3076:Plaa	UTSW	4	94569805	missense	probably benign
R3078:Plaa	UTSW	4	94569805	missense	probably benign
R3801:Plaa	UTSW	4	94569888	missense	probably damaging	1.00
R3802:Plaa	UTSW	4	94569888	missense	probably damaging	1.00
R3804:Plaa	UTSW	4	94569888	missense	probably damaging	1.00
R3836:Plaa	UTSW	4	94586922	critical splice acceptor site	probably null
R4767:Plaa	UTSW	4	94586258	unclassified	probably benign
R4855:Plaa	UTSW	4	94586408	missense	probably damaging	1.00
R4978:Plaa	UTSW	4	94589932	missense	possibly damaging	0.81
R5284:Plaa	UTSW	4	94569637	missense	probably benign	0.03
R5557:Plaa	UTSW	4	94584007	splice site	probably null
R5834:Plaa	UTSW	4	94583469	missense	probably damaging	1.00
R5856:Plaa	UTSW	4	94583487	missense	probably benign	0.00
R6053:Plaa	UTSW	4	94589884	missense	probably benign	0.00
R6145:Plaa	UTSW	4	94583992	missense	probably damaging	0.99
R6646:Plaa	UTSW	4	94589978	missense	probably benign
R7008:Plaa	UTSW	4	94569349	makesense	probably null
R7058:Plaa	UTSW	4	94569823	nonsense	probably null
R7078:Plaa	UTSW	4	94574051	missense	probably benign
R7120:Plaa	UTSW	4	94582682	missense	possibly damaging	0.91
R7651:Plaa	UTSW	4	94582639	missense	probably damaging	1.00
R8163:Plaa	UTSW	4	94569403	missense	probably benign	0.01
R8188:Plaa	UTSW	4	94586349	missense	probably damaging	1.00
R8354:Plaa	UTSW	4	94569477	missense	probably damaging	1.00
R8454:Plaa	UTSW	4	94569477	missense	probably damaging	1.00
R8838:Plaa	UTSW	4	94583554	missense	probably benign	0.37
R9457:Plaa	UTSW	4	94586883	missense	possibly damaging	0.65
R9730:Plaa	UTSW	4	94578423	missense	probably benign

Posted On

2012-04-20