Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Pnpla8'

487358

Institutional Source

Beutler Lab

Gene Symbol

Pnpla8

Ensembl Gene

ENSMUSG00000036257

Gene Name

patatin-like phospholipase domain containing 8

Synonyms

1200006O19Rik, iPLA2 gamma

MMRRC Submission

044272-MU

Accession Numbers

Essential gene?

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

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44221370-44322532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44307989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 644 (T644M)

Ref Sequence

ENSEMBL: ENSMUSP00000043286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043082] [ENSMUST00000122902] [ENSMUST00000143771] [ENSMUST00000156082]

AlphaFold

Q8K1N1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043082
AA Change: T644M

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: T644M

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: T426M

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: T426M

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: ENSMUST00000143771
AA Change: T579M

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: T579M

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

Predicted Effect

unknown
Transcript: ENSMUST00000156082
AA Change: T95M

SMART Domains

Protein: ENSMUSP00000116922
Gene: ENSMUSG00000036257
AA Change: T95M

Domain	Start	End	E-Value	Type
Pfam:Patatin	5	84	2.4e-9	PFAM
low complexity region	114	125	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000218803
AA Change: T117M

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,729,602	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,590,707	R255C	probably damaging	Het
Bbs12	A	G	3: 37,320,551	I383V	probably benign	Het
BC067074	A	G	13: 113,317,683	T88A	probably benign	Het
Cacna1h	G	A	17: 25,385,694	P1215L	probably benign	Het
Calm5	A	T	13: 3,854,491	K62*	probably null	Het
Chd8	T	A	14: 52,207,034	H398L	probably benign	Het
Dlgap2	A	T	8: 14,727,193	H146L	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dupd1	C	A	14: 21,686,690	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706	N369S	probably damaging	Het
Fam84b	T	C	15: 60,823,297	N200S	probably damaging	Het
Fer1l4	A	C	2: 156,046,987	V422G	probably damaging	Het
Fstl4	T	C	11: 53,186,303	M629T	probably benign	Het
Galnt18	A	G	7: 111,485,193	Y507H	probably damaging	Het
Gar1	C	A	3: 129,830,750		probably benign	Het
Gm19402	T	C	10: 77,690,673	T29A	probably damaging	Het
Gm826	A	G	2: 160,327,114	F92L	unknown	Het
H1f0	T	A	15: 79,028,870	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,157,465	Y186C	probably damaging	Het
Hgf	A	G	5: 16,598,161	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hsf2	T	C	10: 57,512,005	V415A	probably benign	Het
Ins2	C	A	7: 142,679,693		probably null	Het
Kel	A	T	6: 41,690,786	F89L	probably damaging	Het
Lrrc37a	T	C	11: 103,501,560	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,327,755	G397C	probably damaging	Het
Madd	A	G	2: 91,152,452		probably null	Het
Map4k4	A	G	1: 40,003,965	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,994,510	T298I	possibly damaging	Het
Mlip	G	A	9: 77,230,482	S381L	probably damaging	Het
Mpdz	A	T	4: 81,297,527	C1487S	probably benign	Het
Mtus1	A	G	8: 41,084,539	S47P	probably damaging	Het
Nek1	T	C	8: 61,028,701	S217P	probably damaging	Het
Olfr1129	T	C	2: 87,575,246	I54T	probably benign	Het
Olfr1487	C	T	19: 13,619,885	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,413,626	V585A	possibly damaging	Het
Perm1	A	G	4: 156,217,719	E240G	probably benign	Het
Pkdrej	T	C	15: 85,816,384	T1784A	probably damaging	Het
Rgs2	T	C	1: 144,004,025	K32E	probably damaging	Het
Scyl3	A	T	1: 163,950,576	M428L	probably benign	Het
Slc30a8	A	G	15: 52,335,134	D325G	probably benign	Het
Slc5a9	G	T	4: 111,883,805	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,330,696		probably null	Het
Slco3a1	C	T	7: 74,318,506	D489N	probably benign	Het
Slit3	T	C	11: 35,570,733		probably null	Het
Stk39	C	A	2: 68,392,124	G199C	probably damaging	Het
Tbx1	A	G	16: 18,583,466	F263L	probably damaging	Het
Tcf21	G	T	10: 22,819,766	N46K	probably benign	Het
Tdrd9	T	A	12: 112,068,198	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,051,487	L625P	probably damaging	Het
Tmem131	G	A	1: 36,808,306	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,148,841	K56E	possibly damaging	Het
Triml2	G	A	8: 43,187,622	V172I	probably benign	Het
Trmt44	C	A	5: 35,565,498	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,541,378	A921T	probably damaging	Het
Ube2o	T	C	11: 116,544,750	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,398,746	T22A	probably benign	Het
Ugp2	A	T	11: 21,329,815	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,842,970	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,398,811	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,702,638	*646R	probably null	Het
Zranb3	T	A	1: 127,959,745	N982Y	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
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
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'- GCACGTGAATCAGCTCATTTG -3'
(R):5'- GTGGGTGATGAGCTCCTAAG -3'

Sequencing Primer
(F):5'- CACGTGAATCAGCTCATTTGAAAGG -3'
(R):5'- AACCACTCTTTCACAGTTGAGATC -3'

Posted On

2017-10-10