Mutagenetix > Incidental Mutation

Incidental Mutation 'R2127:Pnpla8'

227655

Institutional Source

Beutler Lab

Gene Symbol

Pnpla8

Ensembl Gene

ENSMUSG00000036257

Gene Name

patatin-like phospholipase domain containing 8

Synonyms

1200006O19Rik, iPLA2 gamma

MMRRC Submission

040130-MU

Accession Numbers

Essential gene?

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

Stock #

R2127 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44315916-44362718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44354840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 667 (Y667N)

Ref Sequence

ENSEMBL: ENSMUSP00000043286 (fasta)

Gene Model

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

AlphaFold

Q8K1N1

Predicted Effect

probably benign
Transcript: ENSMUST00000043082
AA Change: Y667N

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: Y667N

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: Y449N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: Y449N

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: Y602N

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: Y602N

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: Y118N

SMART Domains

Protein: ENSMUSP00000116922
Gene: ENSMUSG00000036257
AA Change: Y118N

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: Y140N

Meta Mutation Damage Score

0.1255

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (93/95)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,752 (GRCm39)	S300T	possibly damaging	Het
A2ml1	A	C	6: 128,535,400 (GRCm39)	V770G	probably damaging	Het
Abca6	A	G	11: 110,110,475 (GRCm39)	I558T	probably benign	Het
Abhd17c	C	A	7: 83,759,870 (GRCm39)	G295W	probably damaging	Het
Actn3	G	A	19: 4,921,703 (GRCm39)	A159V	probably damaging	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Agbl1	G	T	7: 76,069,628 (GRCm39)	V373F	possibly damaging	Het
Aldh1a1	A	T	19: 20,620,279 (GRCm39)	E485D	probably benign	Het
Amdhd2	A	G	17: 24,377,282 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,206,622 (GRCm39)	D15G	probably damaging	Het
Atp2b2	A	G	6: 113,737,611 (GRCm39)	L921P	probably damaging	Het
Btbd16	A	G	7: 130,386,038 (GRCm39)	N88S	probably benign	Het
Capn10	T	A	1: 92,865,756 (GRCm39)	C77*	probably null	Het
Caskin1	T	C	17: 24,715,970 (GRCm39)		probably null	Het
Catsper4	T	C	4: 133,941,117 (GRCm39)	D254G	probably benign	Het
Catsperg1	T	C	7: 28,884,465 (GRCm39)	D958G	probably damaging	Het
Ccar2	T	G	14: 70,377,100 (GRCm39)	K787Q	probably benign	Het
Ccdc191	C	T	16: 43,728,998 (GRCm39)	T244I	probably benign	Het
Cd33	A	T	7: 43,179,699 (GRCm39)	L243Q	possibly damaging	Het
Cdc37	T	C	9: 21,061,143 (GRCm39)	Y4C	probably damaging	Het
Cenpe	T	G	3: 134,945,541 (GRCm39)	N1018K	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Csmd1	T	C	8: 15,967,392 (GRCm39)	D3157G	probably damaging	Het
Dhx57	C	T	17: 80,580,477 (GRCm39)	V492M	probably damaging	Het
Dnah2	A	T	11: 69,349,011 (GRCm39)	I2486N	probably benign	Het
Dnhd1	C	T	7: 105,342,928 (GRCm39)	T1424I	possibly damaging	Het
Dsc3	C	T	18: 20,101,411 (GRCm39)	A661T	probably benign	Het
F930015N05Rik	A	G	11: 64,326,229 (GRCm39)		probably benign	Het
Fbxo34	C	A	14: 47,767,563 (GRCm39)	R308S	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm11595	A	T	11: 99,663,327 (GRCm39)	C118S	unknown	Het
Gm9742	A	T	13: 8,085,011 (GRCm39)		noncoding transcript	Het
Gmeb2	G	A	2: 180,900,842 (GRCm39)	A185V	probably benign	Het
Gpr15	A	G	16: 58,538,618 (GRCm39)	V157A	possibly damaging	Het
Gpr3	C	T	4: 132,937,932 (GRCm39)	A247T	probably damaging	Het
Grin2b	A	C	6: 135,755,698 (GRCm39)	S539A	probably benign	Het
Hmbs	T	C	9: 44,252,004 (GRCm39)	T92A	probably benign	Het
Inpp4a	A	G	1: 37,406,000 (GRCm39)	M173V	probably benign	Het
Irx4	T	A	13: 73,413,595 (GRCm39)	S22T	probably benign	Het
Jph3	C	T	8: 122,511,881 (GRCm39)	A623V	probably benign	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Ksr1	G	A	11: 78,924,139 (GRCm39)	S361L	probably damaging	Het
Lyst	T	G	13: 13,809,847 (GRCm39)	Y506D	probably damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Megf8	T	C	7: 25,064,007 (GRCm39)	S2788P	possibly damaging	Het
Mfsd2b	T	A	12: 4,917,659 (GRCm39)	Y129F	probably benign	Het
Mindy4	T	C	6: 55,195,250 (GRCm39)	S155P	probably benign	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Nckipsd	A	G	9: 108,688,932 (GRCm39)	T156A	probably benign	Het
Ndst1	G	A	18: 60,824,280 (GRCm39)	T799I	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Nphp3	G	A	9: 103,885,442 (GRCm39)	V167M	probably damaging	Het
Nup107	C	A	10: 117,610,380 (GRCm39)	R354L	possibly damaging	Het
Olfml2a	T	C	2: 38,831,699 (GRCm39)	C93R	probably damaging	Het
Or12e10	A	G	2: 87,640,685 (GRCm39)	I174V	probably benign	Het
Or1e25	C	G	11: 73,493,631 (GRCm39)	S75C	possibly damaging	Het
Or5l14	A	T	2: 87,793,176 (GRCm39)	V20D	probably benign	Het
Pappa	T	A	4: 65,215,494 (GRCm39)	L1134M	probably damaging	Het
Plscr4	T	G	9: 92,370,683 (GRCm39)	F217V	possibly damaging	Het
Polg	A	G	7: 79,114,676 (GRCm39)	L95P	probably damaging	Het
Psg20	T	G	7: 18,416,643 (GRCm39)	I158L	probably damaging	Het
Pwwp2a	A	G	11: 43,596,145 (GRCm39)	S437G	probably benign	Het
Rdx	A	G	9: 51,981,032 (GRCm39)	M305V	possibly damaging	Het
Rinl	A	G	7: 28,496,168 (GRCm39)	E383G	probably damaging	Het
Ror1	A	G	4: 100,299,290 (GRCm39)	M888V	probably benign	Het
Rps12	A	T	10: 23,662,776 (GRCm39)	I22K	possibly damaging	Het
Rtca	C	A	3: 116,291,323 (GRCm39)	R219L	possibly damaging	Het
Ryr2	G	A	13: 11,727,081 (GRCm39)	P2427S	probably damaging	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc39a11	A	G	11: 113,260,629 (GRCm39)	S176P	probably benign	Het
Slfn10-ps	A	G	11: 82,921,168 (GRCm39)		noncoding transcript	Het
Spef2	T	C	15: 9,729,747 (GRCm39)	T124A	possibly damaging	Het
Sult2a4	G	T	7: 13,649,185 (GRCm39)	P207Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tcstv1a	T	C	13: 120,355,282 (GRCm39)	T117A	probably damaging	Het
Tha1	A	G	11: 117,760,600 (GRCm39)	V208A	probably damaging	Het
Tmbim4	T	A	10: 120,060,658 (GRCm39)	I215N	probably damaging	Het
Tmem202	T	A	9: 59,427,483 (GRCm39)	I122F	probably benign	Het
Tomm70a	T	C	16: 56,942,234 (GRCm39)	S4P	unknown	Het
Tpcn2	A	G	7: 144,827,712 (GRCm39)		probably benign	Het
Trim36	A	T	18: 46,345,404 (GRCm39)	F10I	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Usp8	T	G	2: 126,579,495 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,533 (GRCm39)	Y81F	probably benign	Het
Vps36	G	T	8: 22,708,305 (GRCm39)		probably null	Het
Wdr87-ps	T	C	7: 29,236,565 (GRCm39)		noncoding transcript	Het
Wnt3	A	G	11: 103,703,474 (GRCm39)	H319R	possibly damaging	Het
Zfp319	A	T	8: 96,050,391 (GRCm39)		probably benign	Het
Zfp408	T	C	2: 91,475,519 (GRCm39)	E545G	probably damaging	Het
Zfp799	C	T	17: 33,038,472 (GRCm39)	R598Q	possibly damaging	Het
Zfp831	T	C	2: 174,489,917 (GRCm39)	V1228A	probably benign	Het
Zfp938	T	C	10: 82,061,876 (GRCm39)	D248G	probably benign	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
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
R7529:Pnpla8	UTSW	12	44,329,963 (GRCm39)	missense	probably benign	0.00
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'- AACTGACTGCTCTTATGCCTTG -3'
(R):5'- TAAGCTTTTGTGCCAGGTCAG -3'

Sequencing Primer
(F):5'- GCTCTTATGCCTTGTGTTTTACAG -3'
(R):5'- CGTCTTTAACTCTAAGCGAGGAG -3'

Posted On

2014-09-17