Mutagenetix > Incidental Mutation

Incidental Mutation 'R0811:Pnpla8'

262360

Institutional Source

Beutler Lab

Gene Symbol

Pnpla8

Ensembl Gene

ENSMUSG00000036257

Gene Name

patatin-like phospholipase domain containing 8

Synonyms

1200006O19Rik, iPLA2 gamma

MMRRC Submission

038991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R0811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44221370-44322532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44283405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 29 (V29M)

Ref Sequence

ENSEMBL: ENSMUSP00000151660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043082] [ENSMUST00000122902] [ENSMUST00000125757] [ENSMUST00000143771] [ENSMUST00000218954]

AlphaFold

Q8K1N1

Predicted Effect

probably benign
Transcript: ENSMUST00000043082
AA Change: V247M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: V247M

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	332	430	2e-3	SMART
Pfam:Patatin	439	634	1.4e-26	PFAM
low complexity region	664	675	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122902
AA Change: V29M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: V29M

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	114	212	2e-3	SMART
Pfam:Patatin	221	416	3e-27	PFAM
low complexity region	446	457	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125757

Predicted Effect

probably benign
Transcript: ENSMUST00000143771
AA Change: V247M

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: V247M

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	332	430	3e-3	SMART
Pfam:Patatin	439	658	7.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218954
AA Change: V29M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit some female-specific embryonic lethality, reduced body weight and temperature, cold intolerance, decreased exercise tolerance and decreased mitochondria function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,713,414	F858S	probably damaging	Het
Abcb1a	T	C	5: 8,713,229	S586P	probably damaging	Het
Ap5z1	G	A	5: 142,475,791	R583H	probably benign	Het
Arhgap28	TCAGCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAGCAG	17: 67,901,299		probably benign	Het
Arrb1	G	T	7: 99,598,501	V346L	probably benign	Het
Atrnl1	T	A	19: 57,673,141	F518I	probably benign	Het
Bank1	T	A	3: 136,093,366	I405F	probably damaging	Het
Cacna1h	A	G	17: 25,388,628	L905P	probably damaging	Het
Cc2d1a	A	G	8: 84,133,836	Y826H	probably benign	Het
Cenpo	A	G	12: 4,216,643	V155A	probably benign	Het
Cnmd	A	G	14: 79,661,423	F63S	probably damaging	Het
Cnn3	G	A	3: 121,454,951	G72D	probably damaging	Het
Cox10	A	G	11: 64,071,713	S101P	probably benign	Het
Ctdsp1	T	C	1: 74,394,647	V129A	probably damaging	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Dennd5a	G	A	7: 109,933,613	H317Y	possibly damaging	Het
Eef2	C	CN	10: 81,178,769		probably null	Het
Enox1	T	A	14: 77,582,436	D210E	probably damaging	Het
Fam171a1	A	G	2: 3,197,427	N190S	probably damaging	Het
Fat2	T	A	11: 55,253,633	K4138N	possibly damaging	Het
Fat4	A	T	3: 38,957,474	D2241V	probably damaging	Het
Fbn1	C	T	2: 125,403,170	V266I	possibly damaging	Het
Fras1	T	A	5: 96,752,998	S3025R	probably benign	Het
Gba	T	C	3: 89,204,000	I24T	probably benign	Het
Gdpd5	A	G	7: 99,438,333	D68G	probably damaging	Het
Grid1	G	A	14: 34,822,619	S49N	probably benign	Het
Grtp1	T	C	8: 13,179,639	T250A	possibly damaging	Het
Gucy1b1	T	C	3: 82,037,988	N448D	probably benign	Het
Hmcn2	G	A	2: 31,420,371	A3326T	probably damaging	Het
Ippk	C	A	13: 49,443,471	Q254K	probably damaging	Het
Itga2	A	T	13: 114,870,614	L393I	possibly damaging	Het
Kcna10	A	T	3: 107,195,259	E402V	possibly damaging	Het
Kcnab1	G	A	3: 65,297,720	D119N	probably damaging	Het
Kcnip4	T	A	5: 48,409,860	T122S	probably benign	Het
Kcnma1	G	A	14: 23,300,018	P1151L	probably damaging	Het
Klhl22	T	A	16: 17,792,589	M568K	probably benign	Het
Krt6a	C	T	15: 101,692,748	V257M	probably damaging	Het
Ksr2	A	C	5: 117,555,225	H246P	probably damaging	Het
Lca5	T	C	9: 83,399,753	D326G	possibly damaging	Het
Lcp1	A	G	14: 75,214,488	E393G	probably benign	Het
Leo1	G	A	9: 75,445,549	E125K	probably benign	Het
Lipt1	T	A	1: 37,875,301	V146E	probably damaging	Het
Mael	A	T	1: 166,235,399		probably null	Het
Mga	C	T	2: 119,947,961	L1996F	probably damaging	Het
Mllt6	A	G	11: 97,678,561	N913S	probably damaging	Het
Mphosph9	A	C	5: 124,298,759	D507E	probably damaging	Het
Mvp	G	A	7: 126,987,556	A801V	probably benign	Het
Neb	T	C	2: 52,292,695	D1053G	possibly damaging	Het
Nubp1	C	A	16: 10,413,721	L79I	probably benign	Het
Olfr397	G	A	11: 73,965,420	E271K	probably benign	Het
Olfr924	G	A	9: 38,848,509	V132I	probably benign	Het
Olfr97	A	C	17: 37,232,332	L13V	probably benign	Het
Pithd1	A	G	4: 135,977,134		probably benign	Het
Psmb2	T	A	4: 126,707,557	I151N	possibly damaging	Het
Ptgs2	C	T	1: 150,101,354	T104I	probably benign	Het
Ptpro	A	G	6: 137,368,079	T28A	probably benign	Het
Raf1	A	G	6: 115,626,710		probably null	Het
Ranbp2	T	C	10: 58,465,529	M668T	probably benign	Het
Rbm48	A	T	5: 3,591,760		probably null	Het
Rhag	A	T	17: 40,831,578	T225S	possibly damaging	Het
Rhof	A	C	5: 123,131,887	L69R	probably damaging	Het
Slc22a1	T	C	17: 12,666,618		probably benign	Het
Slc24a5	T	C	2: 125,068,804	S52P	probably damaging	Het
Slc8a2	T	C	7: 16,141,114	V429A	probably damaging	Het
Spam1	G	A	6: 24,796,887	R279H	probably damaging	Het
Spata16	T	A	3: 26,913,338		probably benign	Het
Srfbp1	A	G	18: 52,487,516	D102G	probably damaging	Het
Srrm3	A	C	5: 135,873,282		probably benign	Het
Tbl1xr1	T	A	3: 22,200,587		probably benign	Het
Tk1	T	C	11: 117,822,107	E98G	probably damaging	Het
Trim13	G	A	14: 61,605,700	V389I	probably benign	Het
Ttc28	A	T	5: 111,235,500	Y1289F	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ugt1a10	T	A	1: 88,056,182	V234D	probably benign	Het
Vmn2r75	C	T	7: 86,165,367	G306E	probably benign	Het
Vmn2r86	C	T	10: 130,453,628	V133I	probably benign	Het
Vps13c	C	A	9: 67,934,476	Q1927K	probably benign	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp219	T	A	14: 52,006,938	T550S	probably benign	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het

Other mutations in Pnpla8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Pnpla8	APN	12	44283069	missense	probably benign	0.00
IGL01477:Pnpla8	APN	12	44283658	missense	probably damaging	0.98
IGL01963:Pnpla8	APN	12	44296033	missense	possibly damaging	0.88
IGL02877:Pnpla8	APN	12	44283465	missense	probably benign	0.13
IGL03085:Pnpla8	APN	12	44311522	missense	probably benign	0.01
IGL03335:Pnpla8	APN	12	44283164	missense	probably benign	0.03
IGL03396:Pnpla8	APN	12	44283526	missense	probably benign	0.01
Bantamweight	UTSW	12	44304947	missense	possibly damaging	0.65
featherweight	UTSW	12	44295970	nonsense	probably null
freerange	UTSW	12	44283247	missense	possibly damaging	0.94
Goldengloves	UTSW	12	44288308	missense	probably damaging	1.00
R0063:Pnpla8	UTSW	12	44282832	missense	probably damaging	1.00
R0063:Pnpla8	UTSW	12	44282832	missense	probably damaging	1.00
R0172:Pnpla8	UTSW	12	44311328	missense	probably damaging	1.00
R0524:Pnpla8	UTSW	12	44283618	nonsense	probably null
R0608:Pnpla8	UTSW	12	44283463	missense	probably benign	0.36
R0812:Pnpla8	UTSW	12	44283405	missense	probably benign	0.03
R1120:Pnpla8	UTSW	12	44304947	missense	possibly damaging	0.65
R2127:Pnpla8	UTSW	12	44308057	missense	probably benign	0.37
R2392:Pnpla8	UTSW	12	44311504	missense	probably damaging	1.00
R4411:Pnpla8	UTSW	12	44283442	missense	probably benign	0.00
R4714:Pnpla8	UTSW	12	44295913	missense	probably damaging	1.00
R5446:Pnpla8	UTSW	12	44290585	missense	possibly damaging	0.94
R5585:Pnpla8	UTSW	12	44283064	missense	probably benign	0.06
R5752:Pnpla8	UTSW	12	44282887	missense	probably benign	0.04
R5914:Pnpla8	UTSW	12	44295970	nonsense	probably null
R6125:Pnpla8	UTSW	12	44307989	missense	possibly damaging	0.65
R6135:Pnpla8	UTSW	12	44282887	missense	probably benign	0.04
R6224:Pnpla8	UTSW	12	44283028	missense	possibly damaging	0.82
R6905:Pnpla8	UTSW	12	44283553	missense	probably damaging	1.00
R6933:Pnpla8	UTSW	12	44283427	missense	probably benign	0.00
R6983:Pnpla8	UTSW	12	44283247	missense	possibly damaging	0.94
R7334:Pnpla8	UTSW	12	44311503	missense	probably damaging	1.00
R7529:Pnpla8	UTSW	12	44283180	missense	probably benign	0.00
R7996:Pnpla8	UTSW	12	44282983	nonsense	probably null
R8263:Pnpla8	UTSW	12	44296063	missense	probably damaging	1.00
R8401:Pnpla8	UTSW	12	44288308	missense	probably damaging	1.00
R8482:Pnpla8	UTSW	12	44283627	missense	probably benign	0.00
R8531:Pnpla8	UTSW	12	44311585	missense	possibly damaging	0.93
R8735:Pnpla8	UTSW	12	44283439	missense	probably benign
R9433:Pnpla8	UTSW	12	44283522	missense	probably damaging	0.98
R9729:Pnpla8	UTSW	12	44283874	missense	probably benign	0.11
Z1176:Pnpla8	UTSW	12	44295990	frame shift	probably null

Predicted Primers

Posted On

2015-02-04