Mutagenetix > Incidental Mutation

Incidental Mutation 'R6523:Pnpla5'

521553

Institutional Source

Beutler Lab

Gene Symbol

Pnpla5

Ensembl Gene

ENSMUSG00000018868

Gene Name

patatin-like phospholipase domain containing 5

Synonyms

GS2L, 4833426H19Rik

MMRRC Submission

044649-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83996557-84007376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83999912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 329 (R329L)

Ref Sequence

ENSEMBL: ENSMUSP00000155268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019012] [ENSMUST00000230566]

AlphaFold

Q32LZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019012
AA Change: R329L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019012
Gene: ENSMUSG00000018868
AA Change: R329L

Domain	Start	End	E-Value	Type
Pfam:Patatin	12	180	2.6e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230566
AA Change: R329L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,160,120 (GRCm39)		probably null	Het
Alg2	A	T	4: 47,472,071 (GRCm39)	S246T	possibly damaging	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Arid4a	A	G	12: 71,114,115 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,762,553 (GRCm39)		probably null	Het
B430306N03Rik	A	G	17: 48,626,193 (GRCm39)	T129A	possibly damaging	Het
Blvrb	C	A	7: 27,165,142 (GRCm39)		probably null	Het
Ccdc175	T	C	12: 72,191,565 (GRCm39)	N337S	probably benign	Het
Ccdc28b	A	C	4: 129,514,780 (GRCm39)	F110V	probably damaging	Het
Cd200	A	G	16: 45,220,633 (GRCm39)	Y16H	probably benign	Het
Cfh	T	G	1: 140,029,445 (GRCm39)	E950A	possibly damaging	Het
Clec3a	A	T	8: 115,152,345 (GRCm39)	Y117F	probably damaging	Het
CN725425	A	G	15: 91,115,784 (GRCm39)	S9G	probably benign	Het
Coasy	T	A	11: 100,976,944 (GRCm39)	W535R	probably damaging	Het
Cox4i1	T	A	8: 121,399,480 (GRCm39)	S30R	probably benign	Het
Csnk1a1	G	A	18: 61,688,829 (GRCm39)	S3N	probably benign	Het
Dcst2	C	G	3: 89,280,808 (GRCm39)	L669V	probably benign	Het
Dnah14	A	G	1: 181,471,186 (GRCm39)	I1346V	probably benign	Het
Fbxw24	G	A	9: 109,434,048 (GRCm39)	R421*	probably null	Het
Fstl5	G	A	3: 76,443,641 (GRCm39)	V329I	probably benign	Het
Gli3	T	C	13: 15,888,235 (GRCm39)		probably null	Het
Gna11	A	T	10: 81,380,688 (GRCm39)	I25N	probably damaging	Het
Greb1	C	T	12: 16,734,374 (GRCm39)	V1539I	possibly damaging	Het
Hipk3	T	A	2: 104,269,753 (GRCm39)	T479S	possibly damaging	Het
Hspa1b	A	G	17: 35,176,167 (GRCm39)	I606T	probably benign	Het
Idnk	T	A	13: 58,311,457 (GRCm39)	F141L	probably damaging	Het
Ifit3	A	G	19: 34,565,555 (GRCm39)	N367S	probably benign	Het
Kcnn1	A	T	8: 71,299,169 (GRCm39)	D448E	possibly damaging	Het
Krt14	T	C	11: 100,095,923 (GRCm39)	T212A	possibly damaging	Het
Ldlr	G	A	9: 21,648,549 (GRCm39)	C285Y	probably damaging	Het
Mark3	G	A	12: 111,593,669 (GRCm39)	V234I	probably damaging	Het
Meikin	T	A	11: 54,289,327 (GRCm39)	Y233*	probably null	Het
Mtcl2	G	A	2: 156,902,263 (GRCm39)	Q251*	probably null	Het
Muc20	T	C	16: 32,613,820 (GRCm39)	D519G	possibly damaging	Het
Nalcn	T	A	14: 123,555,255 (GRCm39)	H876L	probably benign	Het
Ncaph	A	T	2: 126,947,809 (GRCm39)	I698K	probably damaging	Het
Nipal1	A	T	5: 72,824,951 (GRCm39)	I215F	probably damaging	Het
Nrde2	A	T	12: 100,100,664 (GRCm39)	D607E	possibly damaging	Het
Nt5dc2	T	C	14: 30,857,662 (GRCm39)	F217S	probably damaging	Het
Ntsr2	T	A	12: 16,706,697 (GRCm39)	S156T	probably benign	Het
Or13c9	A	T	4: 52,935,500 (GRCm39)	I261N	probably damaging	Het
Or5b110-ps1	A	C	19: 13,259,728 (GRCm39)	D231E	probably benign	Het
Or5p4	A	C	7: 107,680,762 (GRCm39)	T254P	probably benign	Het
Pfas	A	T	11: 68,881,283 (GRCm39)	I1028K	probably benign	Het
Pramel30	T	C	4: 144,058,218 (GRCm39)	V275A	probably benign	Het
Rhot2	A	G	17: 26,058,394 (GRCm39)	V393A	possibly damaging	Het
Rigi	T	A	4: 40,205,947 (GRCm39)	T882S	probably benign	Het
Rnase9	T	A	14: 51,276,684 (GRCm39)	Y98F	possibly damaging	Het
Sacs	C	A	14: 61,440,410 (GRCm39)	L819I	probably damaging	Het
Sall3	C	T	18: 81,016,403 (GRCm39)	M508I	possibly damaging	Het
Scube3	G	A	17: 28,381,362 (GRCm39)	C301Y	probably damaging	Het
Sgo2b	G	T	8: 64,380,538 (GRCm39)	H765N	probably benign	Het
Sh3gl1	A	T	17: 56,324,617 (GRCm39)	Y344N	possibly damaging	Het
Slc15a2	A	G	16: 36,572,683 (GRCm39)	V635A	probably benign	Het
Slc1a4	T	A	11: 20,282,114 (GRCm39)	Y40F	probably damaging	Het
Slc4a10	A	T	2: 62,117,305 (GRCm39)	K755*	probably null	Het
Slco1a5	C	T	6: 142,212,121 (GRCm39)	G38R	probably damaging	Het
Snx25	T	A	8: 46,508,892 (GRCm39)	D564V	probably damaging	Het
Spon1	T	A	7: 113,486,018 (GRCm39)	D189E	probably benign	Het
Sptbn5	T	C	2: 119,896,095 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,841,170 (GRCm39)	I317V	probably benign	Het
Stil	AAGATTTCCAG	A	4: 114,889,911 (GRCm39)		probably null	Het
Strn3	A	T	12: 51,689,881 (GRCm39)		probably null	Het
Tcaf2	A	T	6: 42,619,953 (GRCm39)	F25I	probably benign	Het
Themis	C	T	10: 28,657,894 (GRCm39)	T154I	possibly damaging	Het
Ttn	T	C	2: 76,626,390 (GRCm39)	R13176G	probably damaging	Het
Utp4	G	A	8: 107,625,095 (GRCm39)	V125M	probably damaging	Het
Vmn1r119	T	A	7: 20,745,777 (GRCm39)	M202L	possibly damaging	Het
Zfp292	G	C	4: 34,816,301 (GRCm39)	F329L	probably benign	Het
Zfp541	C	T	7: 15,829,445 (GRCm39)	P1281L	probably damaging	Het
Zfp616	A	T	11: 73,973,968 (GRCm39)	Q79L	possibly damaging	Het

Other mutations in Pnpla5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4151001:Pnpla5	UTSW	15	84,002,827 (GRCm39)	missense	probably damaging	1.00
R0038:Pnpla5	UTSW	15	84,006,714 (GRCm39)	missense	probably damaging	1.00
R0038:Pnpla5	UTSW	15	84,006,714 (GRCm39)	missense	probably damaging	1.00
R0135:Pnpla5	UTSW	15	83,998,150 (GRCm39)	missense	probably damaging	1.00
R0321:Pnpla5	UTSW	15	84,004,920 (GRCm39)	missense	probably damaging	1.00
R0322:Pnpla5	UTSW	15	84,004,920 (GRCm39)	missense	probably damaging	1.00
R0384:Pnpla5	UTSW	15	84,004,920 (GRCm39)	missense	probably damaging	1.00
R0385:Pnpla5	UTSW	15	84,004,920 (GRCm39)	missense	probably damaging	1.00
R0386:Pnpla5	UTSW	15	84,004,920 (GRCm39)	missense	probably damaging	1.00
R0801:Pnpla5	UTSW	15	83,998,121 (GRCm39)	missense	probably benign	0.45
R6410:Pnpla5	UTSW	15	84,004,880 (GRCm39)	missense	probably damaging	1.00
R6425:Pnpla5	UTSW	15	84,006,836 (GRCm39)	splice site	probably null
R8790:Pnpla5	UTSW	15	84,002,819 (GRCm39)	missense	probably damaging	1.00
R9030:Pnpla5	UTSW	15	83,998,087 (GRCm39)	missense	possibly damaging	0.76
Z1088:Pnpla5	UTSW	15	84,007,272 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTTTTGGTAGAGCCTACTCAG -3'
(R):5'- TGGAGATGCTGAGGTTCACATAC -3'

Sequencing Primer
(F):5'- TACTCAGGCACTCCATGGG -3'
(R):5'- GATGCTGAGGTTCACATACTATCTTC -3'

Posted On

2018-06-06