Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Plaa'

435442

Institutional Source

Beutler Lab

Gene Symbol

Plaa

Ensembl Gene

ENSMUSG00000028577

Gene Name

phospholipase A2, activating protein

Synonyms

Ufd3, D4Ertd618e

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94455751-94491481 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 94472244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,728,976 (GRCm39)	T179P	probably damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Endov	T	C	11: 119,393,186 (GRCm39)	M112T	possibly damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Farsb	C	T	1: 78,445,888 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Fnta	T	C	8: 26,489,564 (GRCm39)	D349G	probably damaging	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gm17067	G	A	7: 42,357,945 (GRCm39)	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Ing3	A	G	6: 21,968,908 (GRCm39)	H130R	possibly damaging	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Kif21b	C	A	1: 136,097,797 (GRCm39)	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5af1	G	A	11: 58,722,813 (GRCm39)	V278I	probably benign	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	probably damaging	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
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'- GCTCACTGAGATGTTCCCTC -3'
(R):5'- AGGCTAATGGACACAAGGTTC -3'

Sequencing Primer
(F):5'- TGAGATGTTCCCTCCCAGGAAG -3'
(R):5'- CTAATGGACACAAGGTTCTGATG -3'

Posted On

2016-10-24