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

Ufd3, D4Ertd618e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

94455751-94491481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94470844 bp (GRCm39)

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: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,233,662 (GRCm39)		probably benign	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Aplnr	A	G	2: 84,967,985 (GRCm39)	S337G	probably benign	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Irak3	C	T	10: 120,013,972 (GRCm39)		probably null	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,598,982 (GRCm39)	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,253,273 (GRCm39)	E327G	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Sim2	T	A	16: 93,915,803 (GRCm39)	Y255*	probably null	Het
Snx9	A	G	17: 5,949,636 (GRCm39)	N112S	probably benign	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,831,109 (GRCm39)	T299S	possibly damaging	Het

Other mutations in Plaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Plaa	APN	4	94,462,284 (GRCm39)	missense	probably benign
IGL01695:Plaa	APN	4	94,462,274 (GRCm39)	nonsense	probably null
IGL01984:Plaa	APN	4	94,459,922 (GRCm39)	splice site	probably null
IGL02430:Plaa	APN	4	94,470,810 (GRCm39)	missense	probably benign	0.09
IGL02552:Plaa	APN	4	94,470,717 (GRCm39)	critical splice donor site	probably null
IGL03238:Plaa	APN	4	94,472,133 (GRCm39)	missense	probably benign	0.23
R1353:Plaa	UTSW	4	94,459,926 (GRCm39)	missense	possibly damaging	0.69
R2937:Plaa	UTSW	4	94,457,696 (GRCm39)	missense	probably damaging	1.00
R3076:Plaa	UTSW	4	94,458,042 (GRCm39)	missense	probably benign
R3078:Plaa	UTSW	4	94,458,042 (GRCm39)	missense	probably benign
R3801:Plaa	UTSW	4	94,458,125 (GRCm39)	missense	probably damaging	1.00
R3802:Plaa	UTSW	4	94,458,125 (GRCm39)	missense	probably damaging	1.00
R3804:Plaa	UTSW	4	94,458,125 (GRCm39)	missense	probably damaging	1.00
R3836:Plaa	UTSW	4	94,475,159 (GRCm39)	critical splice acceptor site	probably null
R4767:Plaa	UTSW	4	94,474,495 (GRCm39)	unclassified	probably benign
R4855:Plaa	UTSW	4	94,474,645 (GRCm39)	missense	probably damaging	1.00
R4978:Plaa	UTSW	4	94,478,169 (GRCm39)	missense	possibly damaging	0.81
R5284:Plaa	UTSW	4	94,457,874 (GRCm39)	missense	probably benign	0.03
R5557:Plaa	UTSW	4	94,472,244 (GRCm39)	splice site	probably null
R5834:Plaa	UTSW	4	94,471,706 (GRCm39)	missense	probably damaging	1.00
R5856:Plaa	UTSW	4	94,471,724 (GRCm39)	missense	probably benign	0.00
R6053:Plaa	UTSW	4	94,478,121 (GRCm39)	missense	probably benign	0.00
R6145:Plaa	UTSW	4	94,472,229 (GRCm39)	missense	probably damaging	0.99
R6646:Plaa	UTSW	4	94,478,215 (GRCm39)	missense	probably benign
R7008:Plaa	UTSW	4	94,457,586 (GRCm39)	makesense	probably null
R7058:Plaa	UTSW	4	94,458,060 (GRCm39)	nonsense	probably null
R7078:Plaa	UTSW	4	94,462,288 (GRCm39)	missense	probably benign
R7120:Plaa	UTSW	4	94,470,919 (GRCm39)	missense	possibly damaging	0.91
R7651:Plaa	UTSW	4	94,470,876 (GRCm39)	missense	probably damaging	1.00
R8163:Plaa	UTSW	4	94,457,640 (GRCm39)	missense	probably benign	0.01
R8188:Plaa	UTSW	4	94,474,586 (GRCm39)	missense	probably damaging	1.00
R8354:Plaa	UTSW	4	94,457,714 (GRCm39)	missense	probably damaging	1.00
R8454:Plaa	UTSW	4	94,457,714 (GRCm39)	missense	probably damaging	1.00
R8838:Plaa	UTSW	4	94,471,791 (GRCm39)	missense	probably benign	0.37
R9457:Plaa	UTSW	4	94,475,120 (GRCm39)	missense	possibly damaging	0.65
R9730:Plaa	UTSW	4	94,466,660 (GRCm39)	missense	probably benign

Posted On

2012-04-20