Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Pnpla8'

54429

Institutional Source

Beutler Lab

Gene Symbol

Pnpla8

Ensembl Gene

ENSMUSG00000036257

Gene Name

patatin-like phospholipase domain containing 8

Synonyms

1200006O19Rik, iPLA2 gamma

MMRRC Submission

038797-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44221370-44322532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44283463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 48 (P48L)

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: P266L

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

SMART Domains

Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: P266L

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: P48L

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

SMART Domains

Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: P48L

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: P266L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: P266L

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: P48L

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416		probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Bckdhb	T	G	9: 83,953,736	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535		probably benign	Het
Cep72	A	T	13: 74,038,304	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356		probably null	Het
Edil3	T	C	13: 89,184,849	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386		probably null	Het
Golgb1	G	T	16: 36,916,330	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Rab44	T	A	17: 29,147,343		probably null	Het
Ranbp2	T	C	10: 58,493,898	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385		probably null	Het
Ttn	A	T	2: 76,787,323	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,796,185		probably null	Het
Ubap2	T	A	4: 41,218,319	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158		probably null	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
R0811:Pnpla8	UTSW	12	44283405	missense	probably benign	0.03
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

PCR Primer
(F):5'- TTAGCACTTCTGCTCCCAAGGGAC -3'
(R):5'- GCCTTTTCTTGCTGAAGTAGCACAC -3'

Sequencing Primer
(F):5'- TTAAGCAAGCCGTCGAGTCTC -3'
(R):5'- TGAAGTAGCACACGCTTTTTC -3'

Posted On

2013-07-11