Mutagenetix > Incidental Mutation

Incidental Mutation 'R9226:Pla2g4c'

699855

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4c

Ensembl Gene

ENSMUSG00000033847

Gene Name

phospholipase A2, group IVC (cytosolic, calcium-independent)

Synonyms

CPLA2-gamma

MMRRC Submission

068960-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R9226 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13058580-13094597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13059671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 3 (C3R)

Ref Sequence

ENSEMBL: ENSMUSP00000104168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043612] [ENSMUST00000108528] [ENSMUST00000167232]

AlphaFold

Q64GA5

Predicted Effect

probably benign
Transcript: ENSMUST00000043612

SMART Domains

Protein: ENSMUSP00000043672
Gene: ENSMUSG00000033847

Domain	Start	End	E-Value	Type
PLAc	1	534	1.97e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108528
AA Change: C3R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104168
Gene: ENSMUSG00000033847
AA Change: C3R

Domain	Start	End	E-Value	Type
PLAc	1	544	1.23e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167232
AA Change: C3R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127060
Gene: ENSMUSG00000033847
AA Change: C3R

Domain	Start	End	E-Value	Type
PLAc	1	544	1.23e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,118,518 (GRCm39)	M1L	probably benign	Het
Adgrf4	C	A	17: 42,980,606 (GRCm39)	A160S	probably damaging	Het
Adgrl1	T	C	8: 84,656,426 (GRCm39)	V243A	possibly damaging	Het
Adgrl4	G	T	3: 151,198,064 (GRCm39)		probably null	Het
Alg8	A	G	7: 97,027,423 (GRCm39)	Y97C	probably damaging	Het
Ankrd12	T	A	17: 66,292,754 (GRCm39)	D893V	probably damaging	Het
Anxa6	T	A	11: 54,885,791 (GRCm39)	T385S	probably benign	Het
Art4	A	T	6: 136,831,365 (GRCm39)	C259S	probably damaging	Het
Ccer2	T	C	7: 28,456,561 (GRCm39)	S102P	possibly damaging	Het
Cdhr3	A	G	12: 33,132,320 (GRCm39)	F101S	probably damaging	Het
Ctdsp1	G	T	1: 74,434,735 (GRCm39)	G260W	probably damaging	Het
Cyp24a1	T	C	2: 170,338,277 (GRCm39)	Y89C	probably damaging	Het
Cyp2d34	T	C	15: 82,504,901 (GRCm39)	D53G	probably damaging	Het
Dnah7a	A	C	1: 53,560,326 (GRCm39)	I2115S	possibly damaging	Het
Exoc4	T	A	6: 33,895,359 (GRCm39)	I792N	possibly damaging	Het
Gm4353	A	G	7: 115,683,006 (GRCm39)	F192L	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ift140	T	C	17: 25,317,839 (GRCm39)	V1441A	probably benign	Het
Ighv1-49	A	T	12: 115,019,073 (GRCm39)	C41S	probably damaging	Het
Lgalsl	A	T	11: 20,779,306 (GRCm39)	I113N	possibly damaging	Het
Lrp1b	T	C	2: 41,401,460 (GRCm39)	D398G		Het
Lrrc4b	A	G	7: 44,112,099 (GRCm39)	H657R	possibly damaging	Het
Map2k2	T	C	10: 80,955,193 (GRCm39)	V228A	possibly damaging	Het
Mdn1	A	G	4: 32,694,612 (GRCm39)	I1112V	probably benign	Het
Mipep	T	A	14: 61,068,692 (GRCm39)	M488K	possibly damaging	Het
Myo15b	A	G	11: 115,750,924 (GRCm39)	T565A		Het
Nfat5	T	C	8: 108,095,401 (GRCm39)	L1214P	probably damaging	Het
Nphp3	A	G	9: 103,885,328 (GRCm39)	T223A	probably benign	Het
Or10s1	A	G	9: 39,986,187 (GRCm39)	I199V	probably benign	Het
Or52s19	A	G	7: 103,008,092 (GRCm39)	M103T	probably damaging	Het
Pkn2	G	A	3: 142,499,709 (GRCm39)	R939W	probably damaging	Het
Plxnd1	A	T	6: 115,934,524 (GRCm39)	I1803N	probably damaging	Het
Pygb	C	A	2: 150,662,781 (GRCm39)	H583N	possibly damaging	Het
Rbm20	A	G	19: 53,839,645 (GRCm39)	D878G	possibly damaging	Het
Rdx	C	A	9: 51,992,468 (GRCm39)	Q414K	probably benign	Het
Scara3	T	C	14: 66,169,233 (GRCm39)	E128G	possibly damaging	Het
Sel1l2	T	C	2: 140,097,222 (GRCm39)	Y361C	probably damaging	Het
Sfmbt2	T	C	2: 10,442,860 (GRCm39)	I179T	probably benign	Het
Sgsm2	C	T	11: 74,748,960 (GRCm39)	V567M	possibly damaging	Het
Sirt4	G	A	5: 115,618,372 (GRCm39)	T234M	probably damaging	Het
Stab1	T	G	14: 30,867,812 (GRCm39)	K1653Q	probably benign	Het
Strn4	T	C	7: 16,559,722 (GRCm39)		probably benign	Het
Stxbp5l	C	A	16: 37,076,206 (GRCm39)	S280I	probably damaging	Het
Tex30	G	A	1: 44,126,133 (GRCm39)	R199W	probably damaging	Het
Tjp3	A	C	10: 81,110,420 (GRCm39)	F731V	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmco3	A	G	8: 13,360,143 (GRCm39)		probably null	Het
Tmem94	C	A	11: 115,683,191 (GRCm39)	A658E	probably damaging	Het
Tnxb	T	A	17: 34,904,766 (GRCm39)	L1177Q	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Upf2	T	A	2: 6,051,845 (GRCm39)	V1169D	unknown	Het
Usp20	C	A	2: 30,907,412 (GRCm39)	A648D	probably damaging	Het
Vmn2r108	T	G	17: 20,691,330 (GRCm39)	N398H	probably benign	Het
Whamm	A	T	7: 81,243,655 (GRCm39)	S626C	probably damaging	Het
Zbtb44	A	G	9: 30,975,524 (GRCm39)	S385G	possibly damaging	Het
Zfp580	C	T	7: 5,056,137 (GRCm39)	Q166*	probably null	Het

Other mutations in Pla2g4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Pla2g4c	APN	7	13,077,951 (GRCm39)	missense	probably benign	0.01
IGL00972:Pla2g4c	APN	7	13,074,583 (GRCm39)	missense	probably benign	0.13
IGL01759:Pla2g4c	APN	7	13,082,241 (GRCm39)	missense	probably damaging	1.00
IGL02567:Pla2g4c	APN	7	13,079,965 (GRCm39)	missense	probably damaging	1.00
IGL02629:Pla2g4c	APN	7	13,069,302 (GRCm39)	nonsense	probably null
IGL02719:Pla2g4c	APN	7	13,064,019 (GRCm39)	missense	probably damaging	1.00
IGL02812:Pla2g4c	APN	7	13,082,290 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Pla2g4c	UTSW	7	13,077,316 (GRCm39)	missense	probably benign
R0184:Pla2g4c	UTSW	7	13,090,145 (GRCm39)	missense	probably benign	0.16
R1052:Pla2g4c	UTSW	7	13,077,334 (GRCm39)	missense	possibly damaging	0.95
R1747:Pla2g4c	UTSW	7	13,071,655 (GRCm39)	splice site	probably benign
R4381:Pla2g4c	UTSW	7	13,079,990 (GRCm39)	missense	probably damaging	1.00
R4486:Pla2g4c	UTSW	7	13,071,676 (GRCm39)	missense	probably benign	0.09
R4674:Pla2g4c	UTSW	7	13,077,439 (GRCm39)	missense	probably null	0.24
R4811:Pla2g4c	UTSW	7	13,071,738 (GRCm39)	missense	probably damaging	1.00
R5655:Pla2g4c	UTSW	7	13,063,889 (GRCm39)	splice site	probably null
R5791:Pla2g4c	UTSW	7	13,073,617 (GRCm39)	missense	probably benign	0.32
R5814:Pla2g4c	UTSW	7	13,074,543 (GRCm39)	missense	probably damaging	1.00
R6381:Pla2g4c	UTSW	7	13,077,933 (GRCm39)	missense	probably benign	0.05
R6395:Pla2g4c	UTSW	7	13,077,933 (GRCm39)	missense	probably benign	0.05
R6974:Pla2g4c	UTSW	7	13,078,459 (GRCm39)	critical splice donor site	probably null
R7257:Pla2g4c	UTSW	7	13,059,669 (GRCm39)	missense	possibly damaging	0.46
R7823:Pla2g4c	UTSW	7	13,063,944 (GRCm39)	missense	probably damaging	1.00
R8385:Pla2g4c	UTSW	7	13,063,589 (GRCm39)	missense	probably benign	0.00
R8737:Pla2g4c	UTSW	7	13,069,154 (GRCm39)	missense	probably benign	0.15
R8933:Pla2g4c	UTSW	7	13,073,627 (GRCm39)	missense	probably benign	0.25
R9086:Pla2g4c	UTSW	7	13,071,692 (GRCm39)	missense	probably benign	0.13
R9121:Pla2g4c	UTSW	7	13,091,010 (GRCm39)	missense	probably damaging	0.99
R9456:Pla2g4c	UTSW	7	13,077,900 (GRCm39)	missense	probably damaging	1.00
Z1088:Pla2g4c	UTSW	7	13,063,678 (GRCm39)	missense	probably benign	0.13
Z1177:Pla2g4c	UTSW	7	13,082,252 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGACTGGTGGGCTAATGTGC -3'
(R):5'- TTTCTGAAGGGAAACAGGACC -3'

Sequencing Primer
(F):5'- TGCCTTAAGGACTATTCATCTGG -3'
(R):5'- TTTGACTGGGACCCACATG -3'

Posted On

2022-02-07