Mutagenetix > Incidental Mutation

Incidental Mutation 'R0524:Pnpla8'

48800

Institutional Source

Beutler Lab

Gene Symbol

Pnpla8

Ensembl Gene

ENSMUSG00000036257

Gene Name

patatin-like phospholipase domain containing 8

Synonyms

1200006O19Rik, iPLA2 gamma

MMRRC Submission

038717-MU

Accession Numbers

Essential gene?

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

Stock #

R0524 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

44221370-44322532 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 44283618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 318 (Q318*)

Ref Sequence

ENSEMBL: ENSMUSP00000122560 (fasta)

Gene Model

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

AlphaFold

Q8K1N1

Predicted Effect

probably null
Transcript: ENSMUST00000043082
AA Change: Q318*

SMART Domains

Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: Q318*

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 null
Transcript: ENSMUST00000122902
AA Change: Q100*

SMART Domains

Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: Q100*

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 null
Transcript: ENSMUST00000143771
AA Change: Q318*

SMART Domains

Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: Q318*

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

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059		probably benign	Het
Adamts16	T	C	13: 70,800,894	E216G	probably benign	Het
Aoc3	C	A	11: 101,337,511	P715T	probably damaging	Het
Bnipl	T	C	3: 95,249,829	D33G	probably benign	Het
Celsr2	T	C	3: 108,401,587	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,825,321	H756L	probably benign	Het
Clca4a	A	G	3: 144,969,393	W159R	probably damaging	Het
Ddx49	A	T	8: 70,296,924	I252N	probably damaging	Het
Duox2	T	C	2: 122,281,836	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,588,048	I431K	probably damaging	Het
Fam135b	A	T	15: 71,462,284	D1020E	probably benign	Het
Flii	A	G	11: 60,720,061	V514A	probably damaging	Het
Frmpd1	G	A	4: 45,256,902	V157M	probably damaging	Het
Frmpd1	A	G	4: 45,283,774	D865G	probably benign	Het
Gm6970	T	A	19: 47,170,494	K214M	unknown	Het
Gsr	G	A	8: 33,669,180		probably null	Het
Hps3	A	T	3: 20,012,776	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,322,974	I15T	probably benign	Het
Kif2b	T	C	11: 91,575,724	R578G	probably benign	Het
Lamb2	A	G	9: 108,484,372	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,873,552	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,013,424	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,305,437	W69R	probably benign	Het
Nsd3	C	A	8: 25,700,577	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,590,177	S150P	probably damaging	Het
Olfr123	A	T	17: 37,795,605	K54*	probably null	Het
Olfr1471	A	G	19: 13,445,864	N284S	probably damaging	Het
Pask	A	T	1: 93,310,834	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,755,642	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,131,607	I700V	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Ppp1cc	C	T	5: 122,172,770	R142*	probably null	Het
Pygl	T	A	12: 70,207,724	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,690,284	S1285T	probably benign	Het
Rdh13	A	C	7: 4,444,297	C10W	probably damaging	Het
Rgr	A	T	14: 37,038,295	C273S	probably benign	Het
Ripk4	G	T	16: 97,755,287	Y22*	probably null	Het
Slc34a2	G	A	5: 53,064,873	W302*	probably null	Het
Smarce1	G	A	11: 99,214,062	T263M	probably damaging	Het
Sypl	C	T	12: 32,967,565	P94L	possibly damaging	Het
Tet3	A	G	6: 83,379,942	I878T	probably damaging	Het
Tmem232	A	G	17: 65,485,942	S87P	probably damaging	Het
Tmem260	A	G	14: 48,472,478	T163A	probably benign	Het
Ttn	T	C	2: 76,725,452	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 41,016,608	M468K	probably benign	Het
Ulk4	A	G	9: 121,252,651		probably null	Het
Vmn1r72	A	G	7: 11,669,792	F243S	probably benign	Het
Wrap73	A	G	4: 154,145,307	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,609,364	D119G	unknown	Het
Zfp719	A	G	7: 43,589,253		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
R0608:Pnpla8	UTSW	12	44283463	missense	probably benign	0.36
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'- GAAGTTAAAGACAAACTTTCCAGCCCG -3'
(R):5'- TCTGAGGCAATGGAACTGACATAAACG -3'

Sequencing Primer
(F):5'- TTTCCAGCCCGACCCAG -3'
(R):5'- GATGAAAAGTCAGTTCTTCAACCC -3'

Posted On

2013-06-12