Mutagenetix > Incidental Mutation

Incidental Mutation 'R0321:Pnpla5'

216058

Institutional Source

Beutler Lab

Gene Symbol

Pnpla5

Ensembl Gene

ENSMUSG00000018868

Gene Name

patatin-like phospholipase domain containing 5

Synonyms

GS2L, 4833426H19Rik

MMRRC Submission

038531-MU

Accession Numbers

Essential gene?

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

Stock #

R0321 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83996557-84007376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84004920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 144 (L144M)

Ref Sequence

ENSEMBL: ENSMUSP00000155268 (fasta)

Gene Model

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

AlphaFold

Q32LZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000019012
AA Change: L144M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019012
Gene: ENSMUSG00000018868
AA Change: L144M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230566
AA Change: L144M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

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 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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,620 (GRCm39)	T353A	probably benign	Het
4933402N03Rik	T	A	7: 130,747,956 (GRCm39)	Y12F	probably benign	Het
Acbd3	T	G	1: 180,579,870 (GRCm39)	F505V	probably damaging	Het
Acod1	T	C	14: 103,292,565 (GRCm39)	V363A	probably benign	Het
Adam28	T	C	14: 68,855,200 (GRCm39)	Q647R	probably damaging	Het
Akr1c18	T	A	13: 4,185,243 (GRCm39)	L296F	probably damaging	Het
Ap1b1	G	A	11: 4,982,464 (GRCm39)	A588T	probably benign	Het
Armc8	A	T	9: 99,415,230 (GRCm39)	I150K	probably damaging	Het
Bahcc1	T	C	11: 120,164,251 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,960,937 (GRCm39)		probably null	Het
Carmil3	C	A	14: 55,739,698 (GRCm39)	D928E	possibly damaging	Het
Ccrl2	T	C	9: 110,885,279 (GRCm39)	N73S	probably damaging	Het
Cdk9	C	A	2: 32,602,698 (GRCm39)		probably benign	Het
Cel	G	T	2: 28,451,160 (GRCm39)	Q66K	probably benign	Het
D930028M14Rik	T	A	7: 24,854,991 (GRCm39)		noncoding transcript	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dlg1	T	C	16: 31,676,854 (GRCm39)	V801A	probably damaging	Het
Dnah10	A	G	5: 124,900,416 (GRCm39)	D3834G	probably benign	Het
Dnajc15	C	T	14: 78,112,273 (GRCm39)	A23T	possibly damaging	Het
Ell2	T	A	13: 75,910,007 (GRCm39)	L119Q	probably damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
F10	T	C	8: 13,103,413 (GRCm39)	F266L	possibly damaging	Het
Fam110a	T	C	2: 151,812,587 (GRCm39)	N61S	probably benign	Het
Fam83c	C	T	2: 155,671,620 (GRCm39)	S605N	probably benign	Het
Fbxw15	C	T	9: 109,394,453 (GRCm39)	V121I	probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gfi1b	A	G	2: 28,503,897 (GRCm39)	F101S	probably damaging	Het
Gimap5	C	G	6: 48,727,449 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,385,699 (GRCm39)		probably null	Het
Gsn	T	C	2: 35,180,408 (GRCm39)	F188L	probably benign	Het
Hivep3	T	A	4: 119,952,788 (GRCm39)	I368N	possibly damaging	Het
Itih3	T	A	14: 30,634,063 (GRCm39)	I153F	probably damaging	Het
Kdm8	A	T	7: 125,060,178 (GRCm39)	Q360L	probably damaging	Het
Lars1	T	C	18: 42,335,697 (GRCm39)	K1140E	probably damaging	Het
Mocs1	A	G	17: 49,740,286 (GRCm39)	Y71C	probably damaging	Het
Mroh5	C	T	15: 73,661,892 (GRCm39)	G433E	probably damaging	Het
Mrpl45	T	A	11: 97,217,764 (GRCm39)		probably benign	Het
Mtcl1	T	A	17: 66,686,426 (GRCm39)	T827S	probably damaging	Het
Muc5b	T	C	7: 141,415,972 (GRCm39)	S2973P	probably benign	Het
Mynn	T	C	3: 30,661,706 (GRCm39)	S263P	probably benign	Het
Myo1f	A	C	17: 33,811,986 (GRCm39)	D595A	probably benign	Het
Necab1	A	T	4: 14,960,083 (GRCm39)	I288N	probably damaging	Het
Nutm2	T	G	13: 50,626,991 (GRCm39)	M382R	probably damaging	Het
Oprm1	T	C	10: 6,779,183 (GRCm39)	S131P	probably damaging	Het
Pcsk9	A	G	4: 106,301,891 (GRCm39)	S619P	probably benign	Het
Phkg1	A	T	5: 129,898,365 (GRCm39)	M1K	probably null	Het
Pigc	C	T	1: 161,798,668 (GRCm39)	Q217*	probably null	Het
Pik3r4	T	A	9: 105,525,906 (GRCm39)	F259I	probably damaging	Het
Pkdcc	A	T	17: 83,529,541 (GRCm39)		probably benign	Het
Prtg	A	T	9: 72,755,307 (GRCm39)	I259F	possibly damaging	Het
Prune2	T	G	19: 17,098,291 (GRCm39)	L1265R	possibly damaging	Het
Prune2	C	T	19: 17,099,818 (GRCm39)	A1774V	probably benign	Het
Rcn3	A	G	7: 44,738,139 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,931 (GRCm39)	Q2067*	probably null	Het
Sec14l1	T	A	11: 117,041,568 (GRCm39)		probably benign	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Smpdl3b	A	T	4: 132,468,755 (GRCm39)	V154E	probably damaging	Het
Spag17	T	C	3: 100,008,719 (GRCm39)	S1950P	probably damaging	Het
Sprr1a	T	C	3: 92,391,609 (GRCm39)	T131A	probably benign	Het
Tatdn2	T	G	6: 113,686,462 (GRCm39)	L690W	probably damaging	Het
Tbc1d1	T	C	5: 64,496,937 (GRCm39)	F864L	probably damaging	Het
Tmem8b	C	A	4: 43,674,444 (GRCm39)	R243S	probably damaging	Het
Tnfrsf11a	T	A	1: 105,772,583 (GRCm39)	C623*	probably null	Het
Tprg1l	T	C	4: 154,243,812 (GRCm39)	N115D	probably damaging	Het
Ube2t	C	T	1: 134,895,538 (GRCm39)	A4V	possibly damaging	Het
Vps41	G	A	13: 19,026,465 (GRCm39)		probably benign	Het
Wdr17	C	T	8: 55,149,303 (GRCm39)		probably null	Het
Wwc1	G	A	11: 35,732,637 (GRCm39)	Q1024*	probably null	Het
Zfand5	T	A	19: 21,253,879 (GRCm39)	N27K	probably damaging	Het
Zfp142	A	T	1: 74,608,873 (GRCm39)	C1641S	probably damaging	Het
Zfyve16	A	G	13: 92,629,042 (GRCm39)	I1465T	probably damaging	Het
Zswim1	G	A	2: 164,667,947 (GRCm39)	G400S	probably benign	Het
Zswim3	C	T	2: 164,662,279 (GRCm39)	A253V	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
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
R6523:Pnpla5	UTSW	15	83,999,912 (GRCm39)	missense	possibly damaging	0.49
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'- ACTCTCCCCGTATCAATGGAAGTCC -3'
(R):5'- AGAGCCTGACATTCCTCCTCAGAAG -3'

Sequencing Primer
(F):5'- CACAGTAGGTGCTTTAACATCGG -3'
(R):5'- GTTTGGATCACCTCTGAAAACACTC -3'

Posted On

2014-07-17