Mutagenetix > Incidental Mutation

Incidental Mutation 'R1712:Pla2g4d'

190651

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

039745-MU

Accession Numbers

Essential gene?

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

Stock #

R1712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120265595-120289197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120277490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 313 (A313S)

Ref Sequence

ENSEMBL: ENSMUSP00000092252 (fasta)

Gene Model

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

AlphaFold

Q50L43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094665
AA Change: A313S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: A313S

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,848,103 (GRCm38)	E12D	probably damaging	Het
Ahnak2	C	A	12: 112,785,378 (GRCm38)	R283L	probably benign	Het
BC005624	T	C	2: 30,974,008 (GRCm38)	E191G	probably damaging	Het
C1galt1	A	G	6: 7,871,217 (GRCm38)	N351S	probably benign	Het
Ccdc162	T	C	10: 41,539,431 (GRCm38)	R2179G	probably benign	Het
Ccdc88c	G	A	12: 100,939,025 (GRCm38)	T1108M	probably benign	Het
Cd47	T	C	16: 49,894,180 (GRCm38)	L184P	probably damaging	Het
Cdc40	T	C	10: 40,841,376 (GRCm38)	K440E	probably damaging	Het
Cenpe	G	A	3: 135,265,933 (GRCm38)	V2262I	probably damaging	Het
Cep290	A	G	10: 100,554,499 (GRCm38)	K2035E	probably benign	Het
Cks1brt	G	T	8: 85,171,543 (GRCm38)	L8F	probably benign	Het
Col17a1	T	C	19: 47,649,003 (GRCm38)		probably benign	Het
Coro6	A	T	11: 77,469,467 (GRCm38)	N421I	probably benign	Het
Cps1	T	C	1: 67,230,281 (GRCm38)	S1480P	probably damaging	Het
Csrnp3	G	T	2: 66,002,482 (GRCm38)	A110S	probably damaging	Het
Cyp2d10	G	T	15: 82,403,039 (GRCm38)	T461K	probably damaging	Het
Dmxl2	A	G	9: 54,401,485 (GRCm38)	V1994A	probably benign	Het
Dnah11	T	A	12: 118,196,644 (GRCm38)	N117I	probably benign	Het
Dnajc3	A	G	14: 118,957,895 (GRCm38)	Y74C	probably damaging	Het
Fam13c	T	A	10: 70,554,573 (GRCm38)	F555I	possibly damaging	Het
Fbn1	T	A	2: 125,346,434 (GRCm38)	D1495V	probably damaging	Het
Fbrsl1	T	C	5: 110,447,996 (GRCm38)	T58A	probably benign	Het
Gjc1	A	G	11: 102,800,880 (GRCm38)	I99T	possibly damaging	Het
Glce	T	C	9: 62,070,575 (GRCm38)	N9S	probably damaging	Het
Gosr1	T	C	11: 76,750,878 (GRCm38)	T125A	possibly damaging	Het
Ifi27	T	A	12: 103,439,943 (GRCm38)		probably null	Het
Jph1	C	T	1: 17,097,232 (GRCm38)	D125N	possibly damaging	Het
Kbtbd12	A	T	6: 88,618,694 (GRCm38)	S51R	probably damaging	Het
Klra9	A	T	6: 130,189,696 (GRCm38)		probably null	Het
Kmo	A	T	1: 175,656,723 (GRCm38)	M340L	probably benign	Het
Lama1	T	C	17: 67,717,186 (GRCm38)	I93T	possibly damaging	Het
Limk2	A	T	11: 3,358,104 (GRCm38)		probably null	Het
Mgat5	C	A	1: 127,320,638 (GRCm38)	N92K	probably benign	Het
Mib2	T	A	4: 155,654,799 (GRCm38)	I908F	probably damaging	Het
Mical1	T	G	10: 41,480,363 (GRCm38)	L304R	probably damaging	Het
Mtbp	G	T	15: 55,571,294 (GRCm38)		probably null	Het
Myo3a	T	C	2: 22,564,992 (GRCm38)	Y70H	probably damaging	Het
Neb	T	C	2: 52,243,389 (GRCm38)	Y3379C	probably damaging	Het
Neurod2	G	T	11: 98,327,203 (GRCm38)	N378K	probably damaging	Het
Olfr1051	T	A	2: 86,275,993 (GRCm38)	T165S	probably damaging	Het
Olfr117	A	G	17: 37,659,908 (GRCm38)	S142P	probably benign	Het
Olfr1286	T	A	2: 111,420,658 (GRCm38)	M98L	probably benign	Het
Olfr986	A	G	9: 40,187,865 (GRCm38)	Y250C	probably damaging	Het
Oog4	G	A	4: 143,439,914 (GRCm38)	L107F	probably damaging	Het
Pfdn6	T	C	17: 33,939,554 (GRCm38)	Y82C	probably damaging	Het
Ptcd3	C	A	6: 71,908,653 (GRCm38)	E30*	probably null	Het
Rai1	A	G	11: 60,187,602 (GRCm38)	T831A	probably benign	Het
Rims1	G	A	1: 22,296,948 (GRCm38)	T1176M	probably damaging	Het
Rin1	A	C	19: 5,055,143 (GRCm38)	I744L	probably benign	Het
Rora	T	A	9: 69,375,489 (GRCm38)	S430T	probably benign	Het
Rsph10b	T	A	5: 143,937,149 (GRCm38)	S23T	probably damaging	Het
Ryr1	T	C	7: 29,047,503 (GRCm38)	N3773S	probably benign	Het
Scn4a	A	G	11: 106,339,354 (GRCm38)	Y543H	probably damaging	Het
Scn4a	C	A	11: 106,345,547 (GRCm38)	G296C	probably benign	Het
Scn7a	T	C	2: 66,705,103 (GRCm38)	T435A	probably benign	Het
Shank2	G	T	7: 144,411,153 (GRCm38)	D833Y	probably damaging	Het
Slc9a2	T	C	1: 40,763,610 (GRCm38)	S607P	possibly damaging	Het
Slx4	G	A	16: 3,991,594 (GRCm38)	R346W	probably damaging	Het
Spata20	A	T	11: 94,480,514 (GRCm38)	C675S	probably benign	Het
Suclg2	A	T	6: 95,587,016 (GRCm38)	I196N	probably damaging	Het
Sv2b	G	A	7: 75,149,059 (GRCm38)	H272Y	possibly damaging	Het
Svep1	T	C	4: 58,070,629 (GRCm38)	I2386V	probably benign	Het
Taf13	A	T	3: 108,581,129 (GRCm38)	E109D	possibly damaging	Het
Tanc2	A	G	11: 105,899,780 (GRCm38)	T976A	probably benign	Het
Tax1bp1	A	G	6: 52,729,326 (GRCm38)	Y104C	probably damaging	Het
Tfeb	T	C	17: 47,788,986 (GRCm38)		probably null	Het
Tlr9	T	C	9: 106,224,049 (GRCm38)	Y180H	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Ttc12	T	A	9: 49,445,199 (GRCm38)	T510S	probably benign	Het
Ubqln1	T	C	13: 58,192,081 (GRCm38)	E280G	probably damaging	Het
Urm1	T	C	2: 29,841,425 (GRCm38)	W44R	probably damaging	Het
Usp32	A	T	11: 85,042,580 (GRCm38)	I34N	probably benign	Het
Vars	T	C	17: 35,014,752 (GRCm38)	L1018P	probably damaging	Het
Vcan	A	T	13: 89,721,775 (GRCm38)	V206D	probably damaging	Het
Vim	T	C	2: 13,578,459 (GRCm38)	V224A	probably damaging	Het
Vmn2r106	G	T	17: 20,278,735 (GRCm38)	H305N	probably benign	Het
Vmn2r78	A	G	7: 86,954,924 (GRCm38)	N770S	probably damaging	Het
Wdr33	T	A	18: 31,896,631 (GRCm38)	L961Q	unknown	Het
Xylt2	A	G	11: 94,668,749 (GRCm38)	S356P	possibly damaging	Het
Zbtb14	A	G	17: 69,387,580 (GRCm38)	N91S	probably damaging	Het
Zc3h6	T	C	2: 129,016,734 (GRCm38)	L895S	probably damaging	Het
Zc3h7b	C	T	15: 81,777,088 (GRCm38)	P376L	probably benign	Het
Zfp131	T	C	13: 119,766,543 (GRCm38)	T523A	probably benign	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
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
R7339:Pla2g4d	UTSW	2	120,278,978 (GRCm38)	missense	probably benign
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'- TGAAGTAGGTCACACAGTCCAGGAG -3'
(R):5'- TCTATGGTCACCCAAGGAGTGAGC -3'

Sequencing Primer
(F):5'- ACTTCTGAAGCGCCAGTAG -3'
(R):5'- AGTGAGCCATGCAGTTTTCTC -3'

Posted On

2014-05-14