Mutagenetix > Incidental Mutation

Incidental Mutation 'R7339:Pla2g4d'

569683

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

045429-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120265595-120289197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120278978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 197 (M197V)

Ref Sequence

ENSEMBL: ENSMUSP00000092252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094665]

AlphaFold

Q50L43

Predicted Effect

probably benign
Transcript: ENSMUST00000094665
AA Change: M197V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: M197V

Domain	Start	End	E-Value	Type
C2	32	132	1.12e-18	SMART
PLAc	263	766	3.36e-11	SMART

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,272,384 (GRCm38)		probably null	Het
2900026A02Rik	T	C	5: 113,183,072 (GRCm38)	D1092G	probably benign	Het
9030624J02Rik	A	T	7: 118,809,971 (GRCm38)	I612F	probably damaging	Het
Abcb11	C	T	2: 69,299,867 (GRCm38)	D282N	probably damaging	Het
Ahnak	A	T	19: 9,008,165 (GRCm38)	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,741,551 (GRCm38)	S90G	probably benign	Het
Arhgap5	A	G	12: 52,517,698 (GRCm38)	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883 (GRCm38)		probably null	Het
Atp1a1	T	C	3: 101,589,872 (GRCm38)	I373V	probably benign	Het
Barhl1	T	C	2: 28,909,887 (GRCm38)	E242G	probably damaging	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318 (GRCm38)		probably benign	Het
Casz1	T	A	4: 148,951,745 (GRCm38)	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,136,041 (GRCm38)	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,225,925 (GRCm38)	Y191C	probably benign	Het
Chmp2b	G	A	16: 65,545,346 (GRCm38)	Q119*	probably null	Het
Cps1	T	A	1: 67,197,015 (GRCm38)	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,901,159 (GRCm38)	F920L	probably damaging	Het
Dnah12	A	T	14: 26,872,320 (GRCm38)	T3410S	probably benign	Het
Fbxo42	T	G	4: 141,200,144 (GRCm38)	S578R	possibly damaging	Het
Fcgr1	C	T	3: 96,284,299 (GRCm38)	G398R	not run	Het
Foxa3	A	T	7: 19,014,869 (GRCm38)	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340 (GRCm38)	K190E	probably benign	Het
Gbp10	T	C	5: 105,220,098 (GRCm38)	Y403C	possibly damaging	Het
Gm906	A	T	13: 50,247,168 (GRCm38)	I374N	possibly damaging	Het
Hsd3b5	A	G	3: 98,622,074 (GRCm38)	I80T	probably damaging	Het
Kri1	T	G	9: 21,286,587 (GRCm38)	Q89P		Het
Lrp6	G	T	6: 134,450,818 (GRCm38)	P1604T	probably damaging	Het
Metap1	T	C	3: 138,466,137 (GRCm38)		probably null	Het
Mkrn3	C	T	7: 62,419,782 (GRCm38)	R87H	probably benign	Het
Ms4a6d	G	A	19: 11,590,073 (GRCm38)	Q155*	probably null	Het
Myh6	T	C	14: 54,961,568 (GRCm38)		probably null	Het
Naip6	G	T	13: 100,316,019 (GRCm38)	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,414,834 (GRCm38)	E160G	probably damaging	Het
Nek6	G	A	2: 38,560,965 (GRCm38)	A127T	probably damaging	Het
Nell1	T	C	7: 50,279,549 (GRCm38)	V264A	probably benign	Het
Nlrp2	T	A	7: 5,327,628 (GRCm38)	I590F	possibly damaging	Het
Olfr1308	A	T	2: 111,960,611 (GRCm38)	M154K	probably benign	Het
Olfr1310	A	G	2: 112,008,475 (GRCm38)	L237P	probably damaging	Het
Olfr1390	G	A	11: 49,341,048 (GRCm38)	R172Q	not run	Het
Olfr503	A	C	7: 108,544,900 (GRCm38)	D125A	probably damaging	Het
Olfr71	C	T	4: 43,706,080 (GRCm38)	A163T	probably benign	Het
Otop3	T	A	11: 115,346,378 (GRCm38)	L556Q	probably damaging	Het
Padi1	T	C	4: 140,829,234 (GRCm38)	D190G	probably null	Het
Pald1	T	C	10: 61,323,331 (GRCm38)	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,757,028 (GRCm38)	T55I	probably benign	Het
Prom1	C	A	5: 44,101,653 (GRCm38)		probably benign	Het
Ptdss1	A	G	13: 66,963,362 (GRCm38)	H164R	possibly damaging	Het
Rrh	A	T	3: 129,810,613 (GRCm38)	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,167,656 (GRCm38)	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,326,570 (GRCm38)	V353I	probably benign	Het
Spdef	T	A	17: 27,720,245 (GRCm38)	E42D	probably benign	Het
Tgoln1	G	C	6: 72,616,278 (GRCm38)	T73R	probably benign	Het
Tmx1	A	G	12: 70,458,850 (GRCm38)	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,363,978 (GRCm38)	Y68F	probably benign	Het
Trp53	T	C	11: 69,589,189 (GRCm38)	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,469 (GRCm38)	D592G	probably benign	Het
Ttll5	T	C	12: 85,857,464 (GRCm38)		probably null	Het
Urb1	CACTTAC	CAC	16: 90,772,573 (GRCm38)		probably benign	Het
Vmn2r43	A	T	7: 8,255,307 (GRCm38)	Y302*	probably null	Het
Vps13d	C	T	4: 145,121,368 (GRCm38)	V2478I		Het
Wsb1	A	G	11: 79,240,358 (GRCm38)	V404A	probably damaging	Het
Zfc3h1	A	G	10: 115,403,300 (GRCm38)	D539G	probably damaging	Het
Zfp318	T	C	17: 46,411,247 (GRCm38)	V1392A	probably damaging	Het

Other mutations in Pla2g4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pla2g4d	APN	2	120,281,726 (GRCm38)	missense	probably damaging	1.00
IGL01405:Pla2g4d	APN	2	120,266,823 (GRCm38)	missense	probably benign	0.01
IGL01642:Pla2g4d	APN	2	120,280,636 (GRCm38)	missense	probably damaging	1.00
IGL01657:Pla2g4d	APN	2	120,275,287 (GRCm38)	missense	possibly damaging	0.91
BB001:Pla2g4d	UTSW	2	120,289,164 (GRCm38)	start gained	probably benign
R0962:Pla2g4d	UTSW	2	120,280,617 (GRCm38)	critical splice donor site	probably null
R1564:Pla2g4d	UTSW	2	120,268,903 (GRCm38)	missense	possibly damaging	0.76
R1576:Pla2g4d	UTSW	2	120,284,167 (GRCm38)	missense	probably damaging	1.00
R1667:Pla2g4d	UTSW	2	120,270,150 (GRCm38)	splice site	probably benign
R1680:Pla2g4d	UTSW	2	120,277,750 (GRCm38)	critical splice donor site	probably null
R1712:Pla2g4d	UTSW	2	120,277,490 (GRCm38)	missense	possibly damaging	0.51
R2253:Pla2g4d	UTSW	2	120,271,141 (GRCm38)	missense	probably damaging	0.99
R2919:Pla2g4d	UTSW	2	120,281,627 (GRCm38)	splice site	probably benign
R3122:Pla2g4d	UTSW	2	120,278,903 (GRCm38)	missense	probably benign	0.03
R4420:Pla2g4d	UTSW	2	120,284,163 (GRCm38)	missense	probably benign
R4737:Pla2g4d	UTSW	2	120,266,790 (GRCm38)	missense	probably benign	0.00
R4829:Pla2g4d	UTSW	2	120,266,743 (GRCm38)	missense	probably damaging	1.00
R5032:Pla2g4d	UTSW	2	120,281,695 (GRCm38)	nonsense	probably null
R5530:Pla2g4d	UTSW	2	120,269,555 (GRCm38)	missense	probably benign	0.06
R5677:Pla2g4d	UTSW	2	120,278,948 (GRCm38)	missense	possibly damaging	0.87
R6087:Pla2g4d	UTSW	2	120,270,006 (GRCm38)	missense	probably damaging	1.00
R6088:Pla2g4d	UTSW	2	120,270,006 (GRCm38)	missense	probably damaging	1.00
R6150:Pla2g4d	UTSW	2	120,269,564 (GRCm38)	missense	probably damaging	1.00
R6930:Pla2g4d	UTSW	2	120,270,633 (GRCm38)	missense	probably damaging	1.00
R7240:Pla2g4d	UTSW	2	120,270,349 (GRCm38)	missense	probably damaging	1.00
R7284:Pla2g4d	UTSW	2	120,284,136 (GRCm38)	missense	probably damaging	1.00
R7552:Pla2g4d	UTSW	2	120,284,139 (GRCm38)	missense	possibly damaging	0.56
R7607:Pla2g4d	UTSW	2	120,288,976 (GRCm38)	missense	probably benign
R7692:Pla2g4d	UTSW	2	120,279,295 (GRCm38)	missense	possibly damaging	0.84
R7860:Pla2g4d	UTSW	2	120,266,730 (GRCm38)	missense	probably benign	0.13
R7924:Pla2g4d	UTSW	2	120,289,164 (GRCm38)	start gained	probably benign
R7972:Pla2g4d	UTSW	2	120,278,932 (GRCm38)	missense	probably benign	0.04
R8373:Pla2g4d	UTSW	2	120,277,499 (GRCm38)	missense	probably null	1.00
R8737:Pla2g4d	UTSW	2	120,269,985 (GRCm38)	missense	probably damaging	1.00
R8752:Pla2g4d	UTSW	2	120,268,767 (GRCm38)	critical splice donor site	probably null
R8987:Pla2g4d	UTSW	2	120,269,961 (GRCm38)	missense	probably damaging	1.00
R9221:Pla2g4d	UTSW	2	120,269,972 (GRCm38)	missense	possibly damaging	0.76
R9251:Pla2g4d	UTSW	2	120,268,897 (GRCm38)	missense	possibly damaging	0.87
R9740:Pla2g4d	UTSW	2	120,277,471 (GRCm38)	missense	probably damaging	1.00
X0026:Pla2g4d	UTSW	2	120,277,471 (GRCm38)	missense	probably damaging	0.99
X0028:Pla2g4d	UTSW	2	120,281,726 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGGTAGGAAAGGGCATG -3'
(R):5'- AGGGAACAGCTCTGCCATAG -3'

Sequencing Primer
(F):5'- CATGGAGCTAGCTAAGGGTG -3'
(R):5'- CTATACCGTGCAAGCAATCTGGG -3'

Posted On

2019-09-13