Mutagenetix > Incidental Mutation

Incidental Mutation 'R7058:Plaa'

548041

Institutional Source

Beutler Lab

Gene Symbol

Plaa

Ensembl Gene

ENSMUSG00000028577

Gene Name

phospholipase A2, activating protein

Synonyms

D4Ertd618e, Ufd3

MMRRC Submission

045155-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R7058 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94567514-94603244 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 94569823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 637 (Q637*)

Ref Sequence

ENSEMBL: ENSMUSP00000102724 (fasta)

Gene Model

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

AlphaFold

P27612

Predicted Effect

probably null
Transcript: ENSMUST00000107107
AA Change: Q637*

SMART Domains

Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: Q637*

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: 99.0%

Validation Efficiency

100% (87/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,626,130	I419T	possibly damaging	Het
Afap1	T	C	5: 35,962,260	V294A	probably benign	Het
Amotl1	T	A	9: 14,575,236	Q454L	possibly damaging	Het
Ap2a1	T	C	7: 44,900,791	S961G	probably damaging	Het
Asxl3	A	G	18: 22,517,674	K907E	probably damaging	Het
BC028528	A	T	3: 95,885,011	L137I	possibly damaging	Het
Cand1	A	T	10: 119,211,754	N610K	probably benign	Het
Cat	A	G	2: 103,474,353	I109T	probably benign	Het
Ccdc18	T	C	5: 108,193,798	V853A	probably benign	Het
Chd4	C	A	6: 125,108,442	D805E	possibly damaging	Het
Cnih1	A	C	14: 46,780,195	F77V	probably damaging	Het
Cntd1	A	T	11: 101,287,426	I284F	probably damaging	Het
Col6a3	C	A	1: 90,828,037	E177*	probably null	Het
Cpxm2	T	A	7: 132,143,679	D139V	probably benign	Het
Cyp1a2	G	T	9: 57,677,242	R510S	probably damaging	Het
D2hgdh	T	C	1: 93,835,374	S294P	probably damaging	Het
Dchs1	A	G	7: 105,757,021	C2335R	probably benign	Het
Disc1	G	T	8: 125,250,985	C719F	probably damaging	Het
Dnah14	A	C	1: 181,698,049	D2180A	probably benign	Het
Dopey2	G	A	16: 93,776,990	R1582Q	probably benign	Het
Dsg2	A	T	18: 20,592,275	H481L	probably benign	Het
Epha6	A	G	16: 59,682,650	S965P	probably damaging	Het
Esrrg	G	T	1: 188,150,306	L253F	probably damaging	Het
Exoc6b	T	C	6: 84,854,722	K438R	probably damaging	Het
Fam98a	C	A	17: 75,538,389	R454L	unknown	Het
Fam98c	A	T	7: 29,155,883		probably null	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Galnt13	A	G	2: 55,098,575	T470A	probably damaging	Het
Ggt7	A	T	2: 155,503,095		probably null	Het
Golim4	T	C	3: 75,878,650	E606G	probably damaging	Het
Gpd2	G	A	2: 57,307,100		probably null	Het
Grin2b	T	C	6: 135,780,306	M386V	probably damaging	Het
Hfm1	A	T	5: 106,911,440	S239T	probably benign	Het
Hmcn1	G	A	1: 150,773,890	T615I	probably benign	Het
Hook2	G	A	8: 84,997,411	E446K	possibly damaging	Het
Hsd3b1	C	T	3: 98,857,815		probably null	Het
Igsf9b	A	G	9: 27,322,854	Y421C	probably damaging	Het
Il21	A	G	3: 37,232,480	L29P	probably damaging	Het
Ildr1	A	G	16: 36,722,368	S421G	probably benign	Het
Kat2b	C	A	17: 53,665,866	T736K	probably benign	Het
Kcng1	A	G	2: 168,262,609	V439A	probably damaging	Het
Kif21a	A	T	15: 90,948,903		probably null	Het
Lat	A	G	7: 126,369,146		probably null	Het
Mastl	T	A	2: 23,133,413	K433*	probably null	Het
Mettl2	A	G	11: 105,128,893	R119G	probably benign	Het
Mia2	C	T	12: 59,184,235	P1223L	possibly damaging	Het
Mkrn2os	G	T	6: 115,586,674	D133E	probably benign	Het
Mslnl	A	G	17: 25,743,212	T195A	probably benign	Het
Muc16	T	G	9: 18,639,755	T5081P	probably benign	Het
Mylpf	G	C	7: 127,213,967	R110P	probably damaging	Het
Myo19	G	T	11: 84,907,368	C738F	possibly damaging	Het
Nat8f4	T	A	6: 85,901,289	N84I	possibly damaging	Het
Nol8	C	T	13: 49,676,386	R1104C	probably damaging	Het
Notch1	A	T	2: 26,463,818	D1932E	probably benign	Het
Nsun3	A	T	16: 62,776,300	C152S	possibly damaging	Het
Olfr116	A	G	17: 37,623,706	F310L	probably benign	Het
Opcml	G	A	9: 28,675,211	W75*	probably null	Het
Pcdh7	G	A	5: 57,722,240	E1046K	probably damaging	Het
Pcdhb9	T	A	18: 37,403,281	V776D	probably benign	Het
Pla2g4a	A	G	1: 149,851,352	L551S	probably damaging	Het
Plekhh1	A	T	12: 79,075,430	E1099V	probably damaging	Het
Ppp4r1	A	T	17: 65,829,500	N551Y	probably benign	Het
R3hdm2	T	C	10: 127,484,513	V554A	probably damaging	Het
Rab44	A	G	17: 29,138,176		probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rasgrf2	T	C	13: 91,886,402	T1119A	probably damaging	Het
Rims2	A	G	15: 39,585,648	D1194G	probably damaging	Het
Scarb1	A	T	5: 125,297,230	C280S	probably damaging	Het
Sde2	T	C	1: 180,866,262	F439S	probably damaging	Het
Setd5	T	C	6: 113,115,571	I304T	probably benign	Het
Sipa1l1	A	G	12: 82,403,122	E1106G	probably benign	Het
Sis	T	G	3: 72,903,607	S1694R	probably damaging	Het
Smad9	T	A	3: 54,786,193	F181Y	probably benign	Het
Smg1	A	G	7: 118,198,279		probably benign	Het
Sspo	T	C	6: 48,448,582	Y46H	probably damaging	Het
Tdrd12	A	G	7: 35,478,109	M940T	unknown	Het
Tmem44	G	T	16: 30,547,395	T71K	possibly damaging	Het
Tmf1	T	A	6: 97,156,950	E1009V	probably damaging	Het
Ttc39a	C	T	4: 109,431,566	R288W	probably damaging	Het
Ttc9c	G	A	19: 8,818,827		probably benign	Het
Usp28	T	A	9: 49,039,156	Y634N	probably damaging	Het
Vmn1r211	C	T	13: 22,851,893	M201I	probably benign	Het
Vmn2r54	T	A	7: 12,615,795	Q620L	possibly damaging	Het
Vps13c	T	C	9: 67,923,828	L1580P	probably benign	Het
Vrk3	C	A	7: 44,768,466	F308L	probably damaging	Het
Zdbf2	T	A	1: 63,307,404	H1647Q	possibly damaging	Het
Zfp984	A	T	4: 147,755,545	M283K	probably benign	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
R4767:Plaa	UTSW	4	94586258	unclassified	probably benign
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
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'- ATTACTCCCGGATTTCAGTTCTAT -3'
(R):5'- GAGTTGCCTCAGTTTTGAAATGT -3'

Sequencing Primer
(F):5'- ATTGCATGTGACATCAGTGACTCC -3'
(R):5'- CCACATCTTGAGGGCCAGTATTTAG -3'

Posted On

2019-05-13