Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Plin5'

37802

Institutional Source

Beutler Lab

Gene Symbol

Plin5

Ensembl Gene

ENSMUSG00000011305

Gene Name

perilipin 5

Synonyms

MLDP, Lsdp5, 2310076L09Rik

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0304 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

56111601-56117596 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56115597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 113 (D113G)

Ref Sequence

ENSEMBL: ENSMUSP00000108695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019808] [ENSMUST00000041357] [ENSMUST00000113072]

AlphaFold

Q8BVZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000019808
AA Change: D113G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305
AA Change: D113G

Domain	Start	End	E-Value	Type
Pfam:Perilipin	31	383	1.2e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041357

SMART Domains

Protein: ENSMUSP00000038048
Gene: ENSMUSG00000037095

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRR	84	107	1.86e0	SMART
LRR_TYP	108	131	3.63e-3	SMART
LRR	133	155	5.89e1	SMART
LRR_TYP	156	179	1.45e-2	SMART
LRR_TYP	180	203	8.47e-4	SMART
LRR	205	227	2.08e1	SMART
LRR	229	251	1.91e1	SMART
LRR	252	275	5.34e-1	SMART
LRRCT	292	342	9.69e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113072
AA Change: D113G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305
AA Change: D113G

Domain	Start	End	E-Value	Type
Pfam:Perilipin	27	384	2.3e-128	PFAM

Meta Mutation Damage Score

0.6288

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit excessive fatty acid oxidation, abnormal lipid levels in organs depending on fed or fasted state, increased oxygen consumption and activity in the dark phase, and decreased cardiac muscle contractility in aged mice. [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
9430007A20Rik	C	T	4: 144,520,049	T55I	probably benign	Het
Acod1	T	A	14: 103,054,982	I314N	probably damaging	Het
Actl11	T	A	9: 107,929,768	V430E	probably damaging	Het
Adam19	A	C	11: 46,127,392	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,752,570		probably benign	Het
Akap7	A	T	10: 25,271,552	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,628,981	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,859,801		probably benign	Het
Atm	T	A	9: 53,516,344	I489F	probably benign	Het
AU019823	T	C	9: 50,607,922	D130G	probably damaging	Het
Carmil1	T	C	13: 24,139,341	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,317,248	V939A	probably damaging	Het
Cel	A	C	2: 28,557,771	L377R	probably benign	Het
Clock	A	G	5: 76,226,985	V779A	unknown	Het
Cluap1	G	A	16: 3,929,918		probably benign	Het
Ctif	A	T	18: 75,521,818	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,252,932		probably benign	Het
Cytip	T	C	2: 58,148,246	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 24,864,815	M434T	probably benign	Het
Ddx47	A	G	6: 135,017,220	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,159,115	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,106,793		probably benign	Het
Drc7	A	T	8: 95,059,128	D204V	probably damaging	Het
Dsc3	A	G	18: 19,981,241	Y319H	probably damaging	Het
Eml6	T	C	11: 29,777,441	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,877,806	D365E	probably benign	Het
Ercc2	T	C	7: 19,386,708	I199T	possibly damaging	Het
Exd2	G	A	12: 80,491,240		probably benign	Het
F2	A	T	2: 91,633,233	I128N	probably damaging	Het
Fam219b	T	C	9: 57,538,876	L123P	probably damaging	Het
Fasn	A	G	11: 120,819,936	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,752,400	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,194,721	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,590,562	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241	T176A	probably benign	Het
Gm20530	T	G	17: 36,094,226		noncoding transcript	Het
Gm4787	A	T	12: 81,378,934	I150N	probably damaging	Het
Grip1	G	A	10: 120,075,471	S618N	probably benign	Het
Hdac9	T	C	12: 34,374,111	K454E	probably damaging	Het
Iars2	T	A	1: 185,287,156	I978F	possibly damaging	Het
Icosl	A	G	10: 78,075,322	Y299C	probably benign	Het
Idi1	T	C	13: 8,890,357	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,291	Q531P	probably damaging	Het
Itih4	T	A	14: 30,890,094		probably null	Het
Izumo4	A	T	10: 80,702,936	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,976,521		probably null	Het
Kynu	A	T	2: 43,679,881	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,592,776	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552	L273R	probably damaging	Het
Max	A	G	12: 76,938,587	L119P	probably benign	Het
Mphosph9	T	C	5: 124,298,829	N484S	probably benign	Het
Mrgprg	A	G	7: 143,765,055	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,421,338	I199F	probably benign	Het
Mtr	C	G	13: 12,222,154		probably null	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Nptx2	A	G	5: 144,553,650		probably benign	Het
Nrip1	T	C	16: 76,292,707	Q654R	possibly damaging	Het
Ocm	A	G	5: 144,024,534	F30L	probably damaging	Het
Olfr1216	G	A	2: 89,013,288	R259W	probably damaging	Het
Olfr1223	A	C	2: 89,144,764	Y86*	probably null	Het
Olfr297	C	T	7: 86,526,987	P77S	probably damaging	Het
Olfr600	G	T	7: 103,346,711	D72E	probably damaging	Het
Oosp1	T	C	19: 11,690,969	M17V	probably benign	Het
Pax1	A	T	2: 147,366,147	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pkd1	C	A	17: 24,585,946	Q3190K	probably damaging	Het
Pkn1	A	C	8: 83,683,607		probably benign	Het
Ppfia1	A	G	7: 144,482,345	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 65,816,006	D334E	probably benign	Het
Ptov1	A	T	7: 44,863,449		probably null	Het
Rab22a	G	A	2: 173,661,459	V22M	probably damaging	Het
Rictor	T	A	15: 6,786,371		probably null	Het
Sart1	G	T	19: 5,380,531		probably benign	Het
Scn11a	G	A	9: 119,819,862	A45V	probably benign	Het
Serpina5	A	G	12: 104,103,200	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,352,401	G212C	probably damaging	Het
Slc38a4	A	T	15: 97,008,454	M378K	probably damaging	Het
Spata22	T	A	11: 73,340,449	C176*	probably null	Het
Tmc3	G	A	7: 83,596,139	E131K	probably damaging	Het
Trappc10	A	T	10: 78,210,760		probably benign	Het
Uvrag	A	G	7: 98,887,973	F672L	probably benign	Het
Vmn1r121	A	G	7: 21,098,407	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,626	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,410,496	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 13,102,780	M56I	probably benign	Het
Wdr62	T	C	7: 30,242,874	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,430,714	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,725,336		probably benign	Het
Zfp607a	A	T	7: 27,879,212	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,701,188	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,774,434	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,880,624	D1644V	probably benign	Het

Other mutations in Plin5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0981:Plin5	UTSW	17	56114020	missense	probably damaging	1.00
R1966:Plin5	UTSW	17	56112186	missense	probably damaging	1.00
R2153:Plin5	UTSW	17	56116836	missense	probably benign	0.02
R2368:Plin5	UTSW	17	56115588	missense	probably damaging	1.00
R4809:Plin5	UTSW	17	56116855	missense	probably benign	0.00
R5173:Plin5	UTSW	17	56115548	splice site	probably null
R5315:Plin5	UTSW	17	56114066	missense	probably benign	0.15
R5836:Plin5	UTSW	17	56115549	critical splice donor site	probably null
R7129:Plin5	UTSW	17	56115174	missense	probably null
R7510:Plin5	UTSW	17	56113975	missense	probably damaging	0.97
R8305:Plin5	UTSW	17	56115221	missense	probably benign	0.00
R9190:Plin5	UTSW	17	56112462	missense	probably damaging	1.00
R9248:Plin5	UTSW	17	56112324	missense	probably damaging	0.99
R9723:Plin5	UTSW	17	56116290	missense	probably damaging	1.00
X0028:Plin5	UTSW	17	56116324	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCAGAGCCAATGCCCAACCTATTTG -3'
(R):5'- AAACCCTTGACTGACTGTGTGACTG -3'

Sequencing Primer
(F):5'- GATACATCATACATGCCTGATTCC -3'
(R):5'- AGACTCTGAGTCCGGTTGAAC -3'

Posted On

2013-05-23