Mutagenetix > Incidental Mutation

Incidental Mutation 'R0631:Pla2g6'

58012

Institutional Source

Beutler Lab

Gene Symbol

Pla2g6

Ensembl Gene

ENSMUSG00000042632

Gene Name

phospholipase A2, group VI

Synonyms

iPLA2, iPLA2beta

MMRRC Submission

038820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79170428-79212590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79190596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 322 (H322L)

Ref Sequence

ENSEMBL: ENSMUSP00000134672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000173163] [ENSMUST00000173632] [ENSMUST00000174021]

AlphaFold

P97819

Predicted Effect

probably damaging
Transcript: ENSMUST00000047816
AA Change: H322L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: H322L

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166977
AA Change: H322L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: H322L

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172403
AA Change: H322L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: H322L

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173163
AA Change: H322L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: H322L

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173601

Predicted Effect

probably benign
Transcript: ENSMUST00000173632

SMART Domains

Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
Blast:ANK	185	204	7e-6	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000174021
AA Change: H322L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: H322L

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Blast:ANK	382	411	2e-8	BLAST
Pfam:Patatin	482	666	2.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174375

Meta Mutation Damage Score

0.9557

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display impaired male fertility and asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,982,479 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,904,517 (GRCm39)	E594G	probably benign	Het
Ak8	T	G	2: 28,625,677 (GRCm39)	I240S	probably damaging	Het
Akap13	T	C	7: 75,264,744 (GRCm39)	V174A	probably damaging	Het
Alppl2	G	A	1: 87,017,095 (GRCm39)	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,831,697 (GRCm39)	I36F	probably damaging	Het
Antxrl	T	A	14: 33,780,758 (GRCm39)		probably null	Het
Arhgef2	G	C	3: 88,541,743 (GRCm39)	V244L	probably damaging	Het
Arid1a	A	G	4: 133,416,481 (GRCm39)	I1098T	unknown	Het
Atr	T	C	9: 95,756,830 (GRCm39)	V903A	possibly damaging	Het
B3gnt6	C	A	7: 97,842,899 (GRCm39)	A354S	probably benign	Het
Bnc1	A	T	7: 81,624,114 (GRCm39)	I371N	probably damaging	Het
Camsap1	A	T	2: 25,823,659 (GRCm39)	S1464T	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Cass4	T	C	2: 172,274,331 (GRCm39)	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,443,752 (GRCm39)	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,012,384 (GRCm39)	W266L	probably damaging	Het
Cct6b	C	A	11: 82,627,914 (GRCm39)		probably null	Het
Cd177	T	C	7: 24,456,111 (GRCm39)	E219G	probably benign	Het
Cdkal1	A	T	13: 29,538,667 (GRCm39)	Y497*	probably null	Het
Chmp2a	T	C	7: 12,766,371 (GRCm39)	E107G	probably damaging	Het
Chrna2	T	G	14: 66,386,757 (GRCm39)	V301G	probably benign	Het
Chrna7	A	G	7: 62,749,391 (GRCm39)	C364R	probably benign	Het
Cltc	G	T	11: 86,603,439 (GRCm39)	L796I	probably benign	Het
Col12a1	T	C	9: 79,610,658 (GRCm39)	T249A	probably damaging	Het
Col13a1	G	A	10: 61,723,129 (GRCm39)	Q270*	probably null	Het
Col6a1	C	T	10: 76,545,569 (GRCm39)	V968M	probably benign	Het
Copb1	C	A	7: 113,832,517 (GRCm39)	V511F	probably benign	Het
Daw1	C	G	1: 83,174,981 (GRCm39)	S160R	probably damaging	Het
Ddx46	A	G	13: 55,787,590 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,552,332 (GRCm39)	K492E	possibly damaging	Het
Dmbt1	C	T	7: 130,699,383 (GRCm39)	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,280,152 (GRCm39)	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Edc4	C	A	8: 106,617,424 (GRCm39)	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,726,278 (GRCm39)	K129M	probably damaging	Het
Emx2	A	G	19: 59,452,460 (GRCm39)	D248G	probably damaging	Het
Erich6b	T	C	14: 75,896,449 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,394,400 (GRCm39)	K507E	probably benign	Het
Fanci	T	A	7: 79,055,953 (GRCm39)	V195E	probably damaging	Het
Fgfr2	T	G	7: 129,828,969 (GRCm39)		probably benign	Het
Frem1	A	G	4: 82,890,402 (GRCm39)	S1007P	probably damaging	Het
Fry	T	C	5: 150,419,817 (GRCm39)	I993T	possibly damaging	Het
Fst	A	G	13: 114,591,038 (GRCm39)	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,009 (GRCm39)	T103A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Gja3	T	C	14: 57,274,219 (GRCm39)	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,161,313 (GRCm39)	D74G	unknown	Het
Gm12689	G	T	4: 99,184,258 (GRCm39)	G37V	unknown	Het
Gm5424	C	T	10: 61,907,313 (GRCm39)		noncoding transcript	Het
Hephl1	T	C	9: 14,995,820 (GRCm39)	E434G	probably benign	Het
Hoatz	T	A	9: 51,013,253 (GRCm39)	R6S	probably benign	Het
Htatip2	T	C	7: 49,423,059 (GRCm39)	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,936,161 (GRCm39)		probably null	Het
Ints2	T	C	11: 86,124,022 (GRCm39)	I589V	probably benign	Het
Itgae	T	A	11: 73,005,733 (GRCm39)	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,559,852 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,401,565 (GRCm39)		probably benign	Het
Kif13a	A	G	13: 46,932,364 (GRCm39)		probably benign	Het
Kif18a	T	A	2: 109,128,667 (GRCm39)		probably benign	Het
Klhl29	T	C	12: 5,144,883 (GRCm39)	T406A	probably benign	Het
Litaf	A	T	16: 10,784,276 (GRCm39)		probably benign	Het
Lmntd1	T	A	6: 145,375,726 (GRCm39)	I71F	probably benign	Het
Lrit3	A	C	3: 129,582,204 (GRCm39)	C594W	probably damaging	Het
Lrp6	T	A	6: 134,456,738 (GRCm39)	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,605,179 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,349,317 (GRCm39)	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,437,684 (GRCm39)	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,378,006 (GRCm39)	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,829,634 (GRCm39)		probably benign	Het
Mgat4b	T	C	11: 50,121,590 (GRCm39)	S69P	probably damaging	Het
Mki67	A	T	7: 135,306,117 (GRCm39)	V620D	probably damaging	Het
Moxd1	C	T	10: 24,128,852 (GRCm39)	T201I	probably damaging	Het
Msh4	G	C	3: 153,572,057 (GRCm39)	D774E	probably benign	Het
Myg1	C	T	15: 102,240,284 (GRCm39)	R37C	probably benign	Het
Myrf	C	A	19: 10,206,246 (GRCm39)	A57S	probably benign	Het
Ndst1	G	A	18: 60,833,431 (GRCm39)		probably benign	Het
Nedd4l	A	T	18: 65,341,574 (GRCm39)		probably benign	Het
Neil2	T	A	14: 63,420,849 (GRCm39)	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,432,035 (GRCm39)	D26V	probably benign	Het
Nt5c	A	G	11: 115,381,540 (GRCm39)		probably null	Het
Or13a24	T	G	7: 140,154,420 (GRCm39)	M118R	probably damaging	Het
Or2w1b	G	T	13: 21,300,078 (GRCm39)	C72F	probably damaging	Het
Or2z8	T	A	8: 72,812,166 (GRCm39)	I214N	probably damaging	Het
Or5ac20	A	G	16: 59,104,570 (GRCm39)	C97R	possibly damaging	Het
Or5t15	T	C	2: 86,681,311 (GRCm39)	T244A	probably benign	Het
Ovch2	A	G	7: 107,381,228 (GRCm39)	S557P	probably benign	Het
Pik3cg	A	G	12: 32,255,202 (GRCm39)	S262P	probably benign	Het
Plch1	A	T	3: 63,606,640 (GRCm39)	L1079Q	probably benign	Het
Plekhg4	T	A	8: 106,105,934 (GRCm39)	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,196,876 (GRCm39)	D747G	possibly damaging	Het
Poln	C	A	5: 34,276,302 (GRCm39)	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,173,873 (GRCm39)	S272T	probably benign	Het
Ppp1r3e	T	G	14: 55,114,073 (GRCm39)	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,894,165 (GRCm39)	P135S	probably benign	Het
Ptgs2	G	A	1: 149,980,288 (GRCm39)	V409I	probably benign	Het
Ptk2b	T	C	14: 66,415,200 (GRCm39)	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921 (GRCm39)	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,276,138 (GRCm39)	I84T	probably damaging	Het
Rab44	A	G	17: 29,358,118 (GRCm39)	D102G	possibly damaging	Het
Rimoc1	A	G	15: 4,015,971 (GRCm39)		probably benign	Het
Rnf125	A	T	18: 21,112,140 (GRCm39)	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,450,851 (GRCm39)	F392L	probably damaging	Het
Rttn	A	G	18: 89,007,670 (GRCm39)	N435S	probably benign	Het
Scn8a	A	G	15: 100,933,418 (GRCm39)	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,432,989 (GRCm39)		probably benign	Het
Sgsm3	A	T	15: 80,895,937 (GRCm39)	*751C	probably null	Het
Slc35c2	A	C	2: 165,122,849 (GRCm39)	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382 (GRCm38)	E396V	probably damaging	Het
Smarca4	G	C	9: 21,570,280 (GRCm39)		probably benign	Het
Snapc3	T	A	4: 83,336,039 (GRCm39)	V17D	probably damaging	Het
Snta1	G	T	2: 154,218,992 (GRCm39)	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,790,014 (GRCm39)	D1334G	probably benign	Het
Stard5	A	G	7: 83,281,965 (GRCm39)	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,660,102 (GRCm39)	N731I	probably benign	Het
Tmem135	T	A	7: 88,792,996 (GRCm39)	K413*	probably null	Het
Tmem38a	G	A	8: 73,333,862 (GRCm39)	V114I	probably benign	Het
Tpr	A	G	1: 150,298,282 (GRCm39)	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,540,066 (GRCm39)	L139Q	probably damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Tuba3b	A	G	6: 145,565,302 (GRCm39)	T257A	probably damaging	Het
Tubgcp6	A	C	15: 88,985,190 (GRCm39)	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,804,644 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,182,849 (GRCm39)	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 85,812,478 (GRCm39)	S514C	probably null	Het
Whrn	G	A	4: 63,337,726 (GRCm39)	T545I	probably damaging	Het
Zdhhc20	T	C	14: 58,095,097 (GRCm39)	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563 (GRCm39)	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,487,083 (GRCm39)	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,263,872 (GRCm39)	H290L	possibly damaging	Het
Zfpm1	C	T	8: 123,063,613 (GRCm39)		probably benign	Het

Other mutations in Pla2g6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Pla2g6	APN	15	79,173,441 (GRCm39)	missense	probably damaging	0.96
IGL00906:Pla2g6	APN	15	79,171,947 (GRCm39)	missense	probably damaging	1.00
IGL01432:Pla2g6	APN	15	79,202,168 (GRCm39)	start codon destroyed	probably null	1.00
IGL01640:Pla2g6	APN	15	79,188,513 (GRCm39)	missense	probably benign
IGL01715:Pla2g6	APN	15	79,202,057 (GRCm39)	missense	probably benign	0.00
IGL01943:Pla2g6	APN	15	79,197,316 (GRCm39)	missense	probably null	0.00
IGL02551:Pla2g6	APN	15	79,183,294 (GRCm39)	missense	possibly damaging	0.95
IGL03120:Pla2g6	APN	15	79,171,060 (GRCm39)	missense	probably damaging	1.00
IGL03193:Pla2g6	APN	15	79,201,985 (GRCm39)	missense	probably damaging	0.98
IGL03194:Pla2g6	APN	15	79,201,985 (GRCm39)	missense	probably damaging	0.98
IGL03205:Pla2g6	APN	15	79,201,985 (GRCm39)	missense	probably damaging	0.98
IGL03289:Pla2g6	APN	15	79,201,985 (GRCm39)	missense	probably damaging	0.98
R0288:Pla2g6	UTSW	15	79,171,106 (GRCm39)	splice site	probably benign
R1216:Pla2g6	UTSW	15	79,190,635 (GRCm39)	missense	probably benign	0.18
R1617:Pla2g6	UTSW	15	79,173,341 (GRCm39)	missense	probably benign	0.03
R1785:Pla2g6	UTSW	15	79,190,545 (GRCm39)	missense	probably benign	0.02
R2025:Pla2g6	UTSW	15	79,170,964 (GRCm39)	missense	probably damaging	1.00
R2079:Pla2g6	UTSW	15	79,197,194 (GRCm39)	missense	probably damaging	1.00
R3952:Pla2g6	UTSW	15	79,197,296 (GRCm39)	missense	probably damaging	1.00
R4774:Pla2g6	UTSW	15	79,171,818 (GRCm39)	missense	probably damaging	1.00
R4826:Pla2g6	UTSW	15	79,192,879 (GRCm39)	missense	possibly damaging	0.96
R5093:Pla2g6	UTSW	15	79,171,328 (GRCm39)	missense	probably benign	0.12
R5327:Pla2g6	UTSW	15	79,186,837 (GRCm39)	missense	probably benign	0.03
R5390:Pla2g6	UTSW	15	79,173,893 (GRCm39)	missense	possibly damaging	0.72
R5419:Pla2g6	UTSW	15	79,183,342 (GRCm39)	missense	possibly damaging	0.82
R5432:Pla2g6	UTSW	15	79,186,817 (GRCm39)	critical splice donor site	probably null
R5633:Pla2g6	UTSW	15	79,183,342 (GRCm39)	missense	possibly damaging	0.82
R5829:Pla2g6	UTSW	15	79,171,893 (GRCm39)	missense	possibly damaging	0.73
R5930:Pla2g6	UTSW	15	79,187,728 (GRCm39)	intron	probably benign
R6228:Pla2g6	UTSW	15	79,189,924 (GRCm39)	missense	probably benign	0.00
R6241:Pla2g6	UTSW	15	79,188,592 (GRCm39)	missense	probably benign	0.02
R6339:Pla2g6	UTSW	15	79,193,016 (GRCm39)	missense	probably damaging	0.99
R6485:Pla2g6	UTSW	15	79,191,572 (GRCm39)	missense	probably benign	0.00
R6754:Pla2g6	UTSW	15	79,190,510 (GRCm39)	missense	probably benign	0.01
R7419:Pla2g6	UTSW	15	79,189,898 (GRCm39)	splice site	probably null
R7425:Pla2g6	UTSW	15	79,192,933 (GRCm39)	missense	probably damaging	1.00
R7710:Pla2g6	UTSW	15	79,171,358 (GRCm39)	missense	probably damaging	0.98
R7738:Pla2g6	UTSW	15	79,181,633 (GRCm39)	nonsense	probably null
R7768:Pla2g6	UTSW	15	79,181,514 (GRCm39)	missense	probably damaging	1.00
R7796:Pla2g6	UTSW	15	79,202,025 (GRCm39)	missense	probably benign	0.32
R8184:Pla2g6	UTSW	15	79,171,322 (GRCm39)	missense	probably benign	0.02
R8359:Pla2g6	UTSW	15	79,171,370 (GRCm39)	missense	probably damaging	0.98
R9105:Pla2g6	UTSW	15	79,183,397 (GRCm39)	critical splice acceptor site	probably null
R9280:Pla2g6	UTSW	15	79,197,314 (GRCm39)	missense	probably benign	0.09
R9471:Pla2g6	UTSW	15	79,202,039 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCTCCTAACAAACCAGCGGC -3'
(R):5'- GCTTGGATACCGTGAAAGACCCTG -3'

Sequencing Primer
(F):5'- ACACCCCTACCGTGGAG -3'
(R):5'- ATGACCTCAGGAGTCAGTGC -3'

Posted On

2013-07-11