Mutagenetix > Incidental Mutation

Incidental Mutation 'R3836:Plaa'

275628

Institutional Source

Beutler Lab

Gene Symbol

Plaa

Ensembl Gene

ENSMUSG00000028577

Gene Name

phospholipase A2, activating protein

Synonyms

Ufd3, D4Ertd618e

MMRRC Submission

040891-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R3836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94455751-94491481 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 94475159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102724 (fasta)

Gene Model

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

AlphaFold

P27612

Predicted Effect

probably null
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

0.9591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
Aasdh	A	G	5: 77,026,315 (GRCm39)	V903A	probably benign	Het
Afg2a	T	A	3: 37,487,792 (GRCm39)	Y428N	possibly damaging	Het
Ankrd6	T	A	4: 32,817,531 (GRCm39)	D271V	probably damaging	Het
Ano10	C	T	9: 122,092,829 (GRCm39)	V167M	possibly damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Bub1	G	T	2: 127,656,806 (GRCm39)	P442Q	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crym	A	G	7: 119,800,439 (GRCm39)	V61A	probably benign	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
Dtna	A	T	18: 23,758,159 (GRCm39)	Q488L	probably damaging	Het
Ecel1	A	C	1: 87,078,378 (GRCm39)	L565R	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fnbp4	A	G	2: 90,577,129 (GRCm39)	T154A	probably damaging	Het
Fsip2	T	C	2: 82,781,290 (GRCm39)	L32P	probably damaging	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Gm12695	T	G	4: 96,650,334 (GRCm39)	T171P	probably damaging	Het
Gm4868	A	C	5: 125,925,014 (GRCm39)		noncoding transcript	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Gstm5	T	C	3: 107,803,678 (GRCm39)	I37T	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itga11	G	T	9: 62,676,565 (GRCm39)	V918L	probably benign	Het
Itgb2l	T	A	16: 96,227,367 (GRCm39)	M559L	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Madd	A	T	2: 90,984,988 (GRCm39)		probably null	Het
Map3k11	A	G	19: 5,740,831 (GRCm39)	E186G	possibly damaging	Het
Mbl2	T	C	19: 30,216,914 (GRCm39)	F242S	probably damaging	Het
Mcph1	A	G	8: 18,672,675 (GRCm39)	T102A	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mkln1	A	G	6: 31,445,271 (GRCm39)	D389G	probably damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Myd88	A	G	9: 119,167,259 (GRCm39)		probably benign	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nprl3	C	T	11: 32,183,082 (GRCm39)	E502K	probably damaging	Het
Nudt5	T	A	2: 5,871,158 (GRCm39)		probably null	Het
Or52b2	G	A	7: 104,986,417 (GRCm39)	P169S	probably benign	Het
Or5h23	A	G	16: 58,906,586 (GRCm39)	S87P	possibly damaging	Het
Or6c69b	C	T	10: 129,627,039 (GRCm39)	V140M	probably benign	Het
Or8j3	A	G	2: 86,029,006 (GRCm39)	V30A	probably benign	Het
Ptk2b	A	G	14: 66,393,791 (GRCm39)	L894P	probably damaging	Het
Rab8b	A	G	9: 66,755,078 (GRCm39)	S183P	probably benign	Het
Reln	A	G	5: 22,116,012 (GRCm39)	Y2999H	probably damaging	Het
Rims4	A	G	2: 163,760,573 (GRCm39)	S11P	possibly damaging	Het
Scel	A	G	14: 103,829,822 (GRCm39)	K448R	possibly damaging	Het
Serpinb10	A	T	1: 107,463,816 (GRCm39)	T33S	probably benign	Het
Sgip1	A	G	4: 102,724,897 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,807,176 (GRCm39)	M158K	probably damaging	Het
Tmem132d	A	T	5: 127,861,949 (GRCm39)	I724N	probably damaging	Het
Tnrc6c	A	G	11: 117,614,055 (GRCm39)	T738A	probably benign	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Ubtfl1	A	T	9: 18,320,533 (GRCm39)	E20D	possibly damaging	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r25	C	A	6: 123,830,044 (GRCm39)	D36Y	probably damaging	Het
Wdhd1	A	G	14: 47,482,511 (GRCm39)	V946A	probably benign	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Zmynd8	G	A	2: 165,700,019 (GRCm39)	T14I	probably benign	Het

Other mutations in Plaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Plaa	APN	4	94,470,844 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTTACCTTTGGAGTTTGGAAAGACAG -3'
(R):5'- ATAATTGAGGCCATTTGGGTGAGTC -3'

Sequencing Primer
(F):5'- TTTGGAGTTTGGAAAGACAGATATGC -3'
(R):5'- GCATGTAACTTCCTAAGACTGAAG -3'

Posted On

2015-04-06