Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Plaa'

366205

Institutional Source

Beutler Lab

Gene Symbol

Plaa

Ensembl Gene

ENSMUSG00000028577

Gene Name

phospholipase A2, activating protein

Synonyms

D4Ertd618e, Ufd3

MMRRC Submission

042408-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94567514-94603244 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 94586258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P27612

Predicted Effect

probably benign
Transcript: ENSMUST00000107107

SMART Domains

Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577

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

probably benign
Transcript: ENSMUST00000127656

SMART Domains

Protein: ENSMUSP00000116530
Gene: ENSMUSG00000028577

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146118

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

95% (62/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,138,977		probably null	Het
Aig1	T	C	10: 13,801,858	N130S	probably damaging	Het
Alx1	A	T	10: 103,025,186	Y160*	probably null	Het
Ap4e1	T	C	2: 127,060,438	I755T	probably benign	Het
Apoc3	C	A	9: 46,234,535	E21*	probably null	Het
Atp9b	G	T	18: 80,753,070	H919Q	probably damaging	Het
Cemip	T	G	7: 83,973,306	Y555S	probably damaging	Het
Cic	T	C	7: 25,271,600	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,611,507	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,202,856	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,969,128	S318P	probably benign	Het
Ddx21	A	G	10: 62,591,972	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,474	T974I	probably benign	Het
Duox1	A	G	2: 122,333,441	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,023,283	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,614,185	Q92L	possibly damaging	Het
Ercc4	C	A	16: 13,122,095	A73D	probably damaging	Het
Eva1c	A	T	16: 90,904,347	Y290F	probably damaging	Het
Galnt5	T	A	2: 58,028,144	V798E	possibly damaging	Het
Haus4	T	C	14: 54,548,885	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,630,936	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Lama3	T	C	18: 12,500,563	V1584A	probably benign	Het
Lamb1	A	G	12: 31,308,011	E1119G	probably damaging	Het
Lao1	T	C	4: 118,967,988	L335P	probably damaging	Het
Mindy4	A	G	6: 55,260,565	D375G	probably damaging	Het
Myo5a	T	C	9: 75,144,076	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,570,466	V128I	probably benign	Het
Nlrp2	C	T	7: 5,328,024	D458N	probably damaging	Het
Olfr107	T	A	17: 37,406,200	C217*	probably null	Het
Olfr1497	A	T	19: 13,795,045	C189S	probably damaging	Het
Olfr347	A	T	2: 36,734,323	M1L	probably benign	Het
Olfr76	G	T	19: 12,119,936	H247N	probably damaging	Het
Olfr938	T	C	9: 39,078,692	T18A	possibly damaging	Het
Parp8	T	C	13: 116,868,536	H663R	probably damaging	Het
Pax6	T	C	2: 105,695,360	S377P	probably benign	Het
Pi15	A	G	1: 17,602,766	D63G	probably benign	Het
Rbm5	C	A	9: 107,745,213	W546C	probably damaging	Het
Rnf123	C	A	9: 108,052,089	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,432,551	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,904,497	S241P	possibly damaging	Het
Slfn8	G	A	11: 83,003,197	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,104,773		probably null	Het
Sox14	A	T	9: 99,875,633	W18R	probably damaging	Het
Spata31d1a	T	C	13: 59,701,155	E1053G	probably benign	Het
Syne1	T	A	10: 5,344,866	K1246*	probably null	Het
Tbrg4	A	C	11: 6,620,909	S188A	probably benign	Het
Thnsl2	A	T	6: 71,134,295	D196E	probably damaging	Het
Tmem266	C	T	9: 55,380,741	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,486,098	R111L	probably benign	Het
Tpr	T	C	1: 150,430,529		probably benign	Het
Trpc6	T	C	9: 8,643,686	S491P	probably damaging	Het
Tspan10	A	T	11: 120,446,166	N254I	probably damaging	Het
Ubox5	A	T	2: 130,591,894	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 24,055,106		probably null	Het
Vmn2r4	C	T	3: 64,390,976	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,455,737	M53K	probably benign	Het
Zfp948	T	A	17: 21,588,307	I587N	possibly damaging	Het

Other mutations in Plaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Plaa	APN	4	94582607	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACACAGAACATTCACTTCTAAAGGG -3'
(R):5'- GTGACCACTGCAGAAGACAG -3'

Sequencing Primer
(F):5'- CTTCTCCAGAAAGTTTTTCCATAGAG -3'
(R):5'- ACTGCAGAAGACAGATCTCTAAG -3'

Posted On

2015-12-21