Mutagenetix > Incidental Mutation

Incidental Mutation 'R7008:Plaa'

544818

Institutional Source

Beutler Lab

Gene Symbol

Plaa

Ensembl Gene

ENSMUSG00000028577

Gene Name

phospholipase A2, activating protein

Synonyms

Ufd3, D4Ertd618e

MMRRC Submission

045110-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R7008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94455751-94491481 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 94457586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 795 (*795Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102724 (fasta)

Gene Model

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

AlphaFold

P27612

Predicted Effect

probably null
Transcript: ENSMUST00000107107
AA Change: *795Q

SMART Domains

Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: *795Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,407,955 (GRCm39)	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,636,525 (GRCm39)	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,341,254 (GRCm39)	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,639,054 (GRCm39)	R232L	probably benign	Het
Best2	T	A	8: 85,739,840 (GRCm39)	I76F	possibly damaging	Het
Card11	G	C	5: 140,859,148 (GRCm39)	R1133G	probably damaging	Het
Card9	T	C	2: 26,247,811 (GRCm39)	D180G	possibly damaging	Het
Ccdc162	T	A	10: 41,428,411 (GRCm39)	E119V	probably damaging	Het
Ccdc168	T	C	1: 44,098,785 (GRCm39)	D771G	probably benign	Het
Cd2bp2	T	C	7: 126,794,567 (GRCm39)	D15G	possibly damaging	Het
Cdk7	A	C	13: 100,854,129 (GRCm39)	M120R	probably damaging	Het
Cryba4	T	A	5: 112,399,648 (GRCm39)	T2S	probably benign	Het
Cyp19a1	A	T	9: 54,100,609 (GRCm39)	M26K	probably benign	Het
Dgcr2	A	G	16: 17,662,865 (GRCm39)	S157P	probably damaging	Het
Dis3l	A	G	9: 64,217,735 (GRCm39)	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,359,536 (GRCm39)	S369T	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,806,192 (GRCm39)	K97E	probably damaging	Het
Igf2bp2	A	T	16: 21,900,582 (GRCm39)	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Klhl5	T	C	5: 65,300,592 (GRCm39)	S52P	probably benign	Het
Lrrc28	A	T	7: 67,245,459 (GRCm39)		probably benign	Het
Map4k4	T	G	1: 40,028,131 (GRCm39)	D317E	probably benign	Het
Maz	A	T	7: 126,623,784 (GRCm39)	C66S	probably damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Milr1	T	A	11: 106,642,140 (GRCm39)	S11T	probably damaging	Het
Mthfd2l	T	A	5: 91,107,587 (GRCm39)	C150S	probably damaging	Het
Nemf	A	T	12: 69,388,395 (GRCm39)	N325K	possibly damaging	Het
Nemf	C	T	12: 69,400,567 (GRCm39)		probably null	Het
Nod2	T	A	8: 89,390,285 (GRCm39)	C197*	probably null	Het
Odf2l	A	G	3: 144,838,495 (GRCm39)	K241E	probably damaging	Het
Or4z4	G	A	19: 12,076,214 (GRCm39)	T263I	possibly damaging	Het
Or5b124	A	T	19: 13,610,985 (GRCm39)	N170I	probably damaging	Het
Osbpl10	T	G	9: 114,890,916 (GRCm39)	D101E	probably damaging	Het
Osgin1	T	C	8: 120,168,233 (GRCm39)	V20A	possibly damaging	Het
Pan3	T	A	5: 147,482,503 (GRCm39)	C438S	probably damaging	Het
Prss35	T	C	9: 86,638,361 (GRCm39)	V377A	probably benign	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasl12	G	A	9: 65,318,151 (GRCm39)	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,626,775 (GRCm39)	H276R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sez6l	T	C	5: 112,612,561 (GRCm39)	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,409,886 (GRCm39)	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,307,205 (GRCm39)	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,117,266 (GRCm39)	T712A	probably benign	Het
Sntb1	A	T	15: 55,655,468 (GRCm39)	Y249*	probably null	Het
Spatc1	A	G	15: 76,167,923 (GRCm39)	I127M	probably benign	Het
Sting1	C	A	18: 35,868,224 (GRCm39)	R292L	probably damaging	Het
Synj1	A	T	16: 90,790,833 (GRCm39)	N109K	probably damaging	Het
Tdg	T	A	10: 82,484,475 (GRCm39)	M396K	possibly damaging	Het
Tmem252	T	C	19: 24,651,656 (GRCm39)	V75A	probably damaging	Het
Trim40	T	C	17: 37,194,868 (GRCm39)	Q142R	probably damaging	Het
Trip6	T	C	5: 137,311,228 (GRCm39)	T163A	probably damaging	Het
Ttn	T	C	2: 76,724,986 (GRCm39)		probably benign	Het
Wdr95	T	C	5: 149,535,005 (GRCm39)	L721P	probably benign	Het
Zfp385c	A	T	11: 100,521,513 (GRCm39)	D182E	probably damaging	Het
Zfp597	A	G	16: 3,683,631 (GRCm39)	F375S	probably benign	Het
Zfp658	T	G	7: 43,223,336 (GRCm39)	F537C	possibly damaging	Het
Zgrf1	T	C	3: 127,355,421 (GRCm39)	F216L	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
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
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'- CCTTGAAAATCTACTCCATTACACAGG -3'
(R):5'- TGCAAGACCTAGAAGCCACG -3'

Sequencing Primer
(F):5'- TCTACTCCATTACACAGGAAAACCTC -3'
(R):5'- AGAAGCCACGTTTAGACTCCTTGTG -3'

Posted On

2019-05-13