Mutagenetix > Incidental Mutation

Incidental Mutation 'R7529:Pnpla8'

583212

Institutional Source

Beutler Lab

Gene Symbol

Pnpla8

Ensembl Gene

ENSMUSG00000036257

Gene Name

patatin-like phospholipase domain containing 8

Synonyms

1200006O19Rik, iPLA2 gamma

MMRRC Submission

045601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44315916-44362718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44329963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 172 (K172E)

Ref Sequence

ENSEMBL: ENSMUSP00000043286 (fasta)

Gene Model

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

AlphaFold

Q8K1N1

Predicted Effect

probably benign
Transcript: ENSMUST00000043082
AA Change: K172E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: K172E

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

SMART Domains

Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257

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: K172E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: K172E

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

Meta Mutation Damage Score

0.0615

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	A	7: 127,836,336 (GRCm39)	K86*	probably null	Het
Ablim3	A	C	18: 61,955,039 (GRCm39)	S317A	probably benign	Het
Adcy1	T	C	11: 7,089,157 (GRCm39)	S524P	probably damaging	Het
Agps	C	A	2: 75,662,696 (GRCm39)	A47E	possibly damaging	Het
Arhgef15	G	T	11: 68,844,848 (GRCm39)	R250S	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atoh8	G	T	6: 72,200,825 (GRCm39)	D288E	probably benign	Het
B3galt2	A	C	1: 143,522,274 (GRCm39)	K137Q	probably benign	Het
Cacna2d4	G	A	6: 119,247,727 (GRCm39)	V343I	probably benign	Het
Cage1	T	C	13: 38,209,731 (GRCm39)	N82S	possibly damaging	Het
Cep350	A	G	1: 155,737,669 (GRCm39)	S2725P	probably benign	Het
Cfap65	T	C	1: 74,965,769 (GRCm39)	N414D	probably damaging	Het
Cgnl1	A	C	9: 71,539,040 (GRCm39)	L1154R	probably damaging	Het
Cmya5	A	T	13: 93,233,942 (GRCm39)	M382K	probably benign	Het
Dchs2	G	A	3: 83,261,705 (GRCm39)	V2658M	possibly damaging	Het
Dlgap5	T	C	14: 47,653,876 (GRCm39)	N51S	probably damaging	Het
Dnah17	A	G	11: 117,940,692 (GRCm39)		probably null	Het
Dnal1	A	G	12: 84,178,117 (GRCm39)	I35V	probably benign	Het
Dtnbp1	A	G	13: 45,084,546 (GRCm39)	F198S	probably damaging	Het
Edar	A	T	10: 58,447,830 (GRCm39)	S160T	probably benign	Het
Enpp3	A	T	10: 24,674,072 (GRCm39)	N409K	probably damaging	Het
Ercc6	T	A	14: 32,282,686 (GRCm39)	C726*	probably null	Het
Extl2	G	A	3: 115,821,055 (GRCm39)	V301I	possibly damaging	Het
G2e3	A	G	12: 51,418,387 (GRCm39)	Q594R	probably damaging	Het
Gal3st2c	A	G	1: 93,937,039 (GRCm39)	N328S	probably benign	Het
Galnt17	A	G	5: 131,335,218 (GRCm39)	V74A	probably damaging	Het
Ggta1	A	G	2: 35,304,256 (GRCm39)	W76R	probably damaging	Het
Gm9772	T	A	17: 22,226,140 (GRCm39)	D48V	probably benign	Het
Herpud2	T	C	9: 25,020,193 (GRCm39)	T388A	probably damaging	Het
Ighv5-9-1	A	G	12: 113,699,954 (GRCm39)	S53P	possibly damaging	Het
Il23r	T	A	6: 67,467,720 (GRCm39)	M16L	possibly damaging	Het
Ints1	G	A	5: 139,753,481 (GRCm39)	A717V	possibly damaging	Het
Itpr2	A	T	6: 146,096,096 (GRCm39)	L2122Q	probably damaging	Het
Klrg2	A	T	6: 38,607,266 (GRCm39)	V248E	probably damaging	Het
Krtap5-5	A	G	7: 141,783,429 (GRCm39)	C74R	unknown	Het
Luzp1	G	T	4: 136,268,243 (GRCm39)	L155F	probably damaging	Het
Mcam	T	C	9: 44,050,192 (GRCm39)	V209A	probably benign	Het
Med1	G	C	11: 98,046,791 (GRCm39)	T1335R	unknown	Het
Mroh2b	A	G	15: 4,978,491 (GRCm39)	I1346V	probably damaging	Het
Mrpl4	C	G	9: 20,918,975 (GRCm39)	Q201E	probably benign	Het
Muc21	A	T	17: 35,930,123 (GRCm39)	S1354R	unknown	Het
Mylk2	T	C	2: 152,757,624 (GRCm39)	L326P	probably damaging	Het
Myot	A	T	18: 44,479,240 (GRCm39)	R326*	probably null	Het
Nox3	T	A	17: 3,722,050 (GRCm39)	R288S	probably damaging	Het
Nox4	A	T	7: 87,044,976 (GRCm39)	Y572F	unknown	Het
Or2v2	A	G	11: 49,003,686 (GRCm39)	L289P	probably damaging	Het
Or5an10	A	G	19: 12,276,086 (GRCm39)	S137P	probably damaging	Het
Pcdhb15	G	T	18: 37,607,526 (GRCm39)	E253*	probably null	Het
Plcb2	T	C	2: 118,540,715 (GRCm39)	H1052R	probably damaging	Het
Plpp5	A	T	8: 26,214,233 (GRCm39)	Q250L	probably benign	Het
Plxna2	T	C	1: 194,326,179 (GRCm39)	Y38H	probably benign	Het
Pramel23	T	C	4: 143,429,244 (GRCm39)			Het
Prl8a9	T	A	13: 27,744,511 (GRCm39)	D110V	probably benign	Het
Prrx1	T	C	1: 163,081,533 (GRCm39)		probably null	Het
Prss52	T	A	14: 64,347,037 (GRCm39)	H70Q	probably benign	Het
Rcc1	T	C	4: 132,061,874 (GRCm39)	T300A	probably benign	Het
Rnf114	T	C	2: 167,349,014 (GRCm39)	V64A	possibly damaging	Het
Rnf168	T	C	16: 32,117,732 (GRCm39)	I431T	probably damaging	Het
Rnmt	A	G	18: 68,444,726 (GRCm39)	M232V	probably benign	Het
Rrs1	A	C	1: 9,616,417 (GRCm39)	Q223H	probably benign	Het
Scyl3	A	T	1: 163,771,438 (GRCm39)	L261F	probably damaging	Het
Slc24a4	A	T	12: 102,230,707 (GRCm39)	T533S	probably benign	Het
Slc26a2	A	G	18: 61,331,430 (GRCm39)	L667P	probably damaging	Het
Snrnp40	T	A	4: 130,278,275 (GRCm39)	V260D	possibly damaging	Het
Snrpa	A	C	7: 26,888,878 (GRCm39)	M174R	probably benign	Het
Ss18l1	C	T	2: 179,699,950 (GRCm39)	A270V	possibly damaging	Het
Stk19	G	T	17: 35,043,632 (GRCm39)	Q193K	probably benign	Het
Syne1	T	A	10: 5,374,382 (GRCm39)	I142L	probably damaging	Het
Tbx2	T	C	11: 85,731,727 (GRCm39)	S675P	probably benign	Het
Tcaf1	A	G	6: 42,652,289 (GRCm39)	I731T	probably damaging	Het
Tg	G	T	15: 66,566,617 (GRCm39)	G1222W	probably damaging	Het
Tsc2	A	G	17: 24,816,922 (GRCm39)	F1581L	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Wls	A	T	3: 159,578,644 (GRCm39)	N69Y	probably benign	Het
Wnk2	A	G	13: 49,254,457 (GRCm39)	F353L	possibly damaging	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp64	C	T	2: 168,735,992 (GRCm39)	G562R	probably benign	Het
Zfp663	T	G	2: 165,194,728 (GRCm39)	E497A	probably damaging	Het
Zfp995	A	T	17: 22,099,333 (GRCm39)	C300*	probably null	Het

Other mutations in Pnpla8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Pnpla8	APN	12	44,329,852 (GRCm39)	missense	probably benign	0.00
IGL01477:Pnpla8	APN	12	44,330,441 (GRCm39)	missense	probably damaging	0.98
IGL01963:Pnpla8	APN	12	44,342,816 (GRCm39)	missense	possibly damaging	0.88
IGL02877:Pnpla8	APN	12	44,330,248 (GRCm39)	missense	probably benign	0.13
IGL03085:Pnpla8	APN	12	44,358,305 (GRCm39)	missense	probably benign	0.01
IGL03335:Pnpla8	APN	12	44,329,947 (GRCm39)	missense	probably benign	0.03
IGL03396:Pnpla8	APN	12	44,330,309 (GRCm39)	missense	probably benign	0.01
Bantamweight	UTSW	12	44,351,730 (GRCm39)	missense	possibly damaging	0.65
featherweight	UTSW	12	44,342,753 (GRCm39)	nonsense	probably null
freerange	UTSW	12	44,330,030 (GRCm39)	missense	possibly damaging	0.94
Goldengloves	UTSW	12	44,335,091 (GRCm39)	missense	probably damaging	1.00
R0063:Pnpla8	UTSW	12	44,329,615 (GRCm39)	missense	probably damaging	1.00
R0063:Pnpla8	UTSW	12	44,329,615 (GRCm39)	missense	probably damaging	1.00
R0172:Pnpla8	UTSW	12	44,358,111 (GRCm39)	missense	probably damaging	1.00
R0524:Pnpla8	UTSW	12	44,330,401 (GRCm39)	nonsense	probably null
R0608:Pnpla8	UTSW	12	44,330,246 (GRCm39)	missense	probably benign	0.36
R0811:Pnpla8	UTSW	12	44,330,188 (GRCm39)	missense	probably benign	0.03
R0812:Pnpla8	UTSW	12	44,330,188 (GRCm39)	missense	probably benign	0.03
R1120:Pnpla8	UTSW	12	44,351,730 (GRCm39)	missense	possibly damaging	0.65
R2127:Pnpla8	UTSW	12	44,354,840 (GRCm39)	missense	probably benign	0.37
R2392:Pnpla8	UTSW	12	44,358,287 (GRCm39)	missense	probably damaging	1.00
R4411:Pnpla8	UTSW	12	44,330,225 (GRCm39)	missense	probably benign	0.00
R4714:Pnpla8	UTSW	12	44,342,696 (GRCm39)	missense	probably damaging	1.00
R5446:Pnpla8	UTSW	12	44,337,368 (GRCm39)	missense	possibly damaging	0.94
R5585:Pnpla8	UTSW	12	44,329,847 (GRCm39)	missense	probably benign	0.06
R5752:Pnpla8	UTSW	12	44,329,670 (GRCm39)	missense	probably benign	0.04
R5914:Pnpla8	UTSW	12	44,342,753 (GRCm39)	nonsense	probably null
R6125:Pnpla8	UTSW	12	44,354,772 (GRCm39)	missense	possibly damaging	0.65
R6135:Pnpla8	UTSW	12	44,329,670 (GRCm39)	missense	probably benign	0.04
R6224:Pnpla8	UTSW	12	44,329,811 (GRCm39)	missense	possibly damaging	0.82
R6905:Pnpla8	UTSW	12	44,330,336 (GRCm39)	missense	probably damaging	1.00
R6933:Pnpla8	UTSW	12	44,330,210 (GRCm39)	missense	probably benign	0.00
R6983:Pnpla8	UTSW	12	44,330,030 (GRCm39)	missense	possibly damaging	0.94
R7334:Pnpla8	UTSW	12	44,358,286 (GRCm39)	missense	probably damaging	1.00
R7996:Pnpla8	UTSW	12	44,329,766 (GRCm39)	nonsense	probably null
R8263:Pnpla8	UTSW	12	44,342,846 (GRCm39)	missense	probably damaging	1.00
R8401:Pnpla8	UTSW	12	44,335,091 (GRCm39)	missense	probably damaging	1.00
R8482:Pnpla8	UTSW	12	44,330,410 (GRCm39)	missense	probably benign	0.00
R8531:Pnpla8	UTSW	12	44,358,368 (GRCm39)	missense	possibly damaging	0.93
R8735:Pnpla8	UTSW	12	44,330,222 (GRCm39)	missense	probably benign
R9433:Pnpla8	UTSW	12	44,330,305 (GRCm39)	missense	probably damaging	0.98
R9729:Pnpla8	UTSW	12	44,330,657 (GRCm39)	missense	probably benign	0.11
Z1176:Pnpla8	UTSW	12	44,342,773 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGAGCATTCATATGTCCCG -3'
(R):5'- AGGTCTGGCTTGTCCTGAAG -3'

Sequencing Primer
(F):5'- TCAAAGGCTATTTTTGGCAGTC -3'
(R):5'- GCTTGTCCTGAAGCTGTTTATC -3'

Posted On

2019-10-17