Mutagenetix > Incidental Mutations

Incidental Mutation 'R7030:Plin4'

546288

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56100591-56109803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56103969 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1021 (T1021S)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000002911] [ENSMUST00000190703] [ENSMUST00000225843] [ENSMUST00000226053]

Predicted Effect

probably damaging
Transcript: ENSMUST00000002908
AA Change: T1021S

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

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T1021S

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
internal_repeat_2	74	335	9.44e-7	PROSPERO
internal_repeat_1	103	467	2.72e-12	PROSPERO
internal_repeat_2	343	701	9.44e-7	PROSPERO
internal_repeat_1	598	1090	2.72e-12	PROSPERO
low complexity region	1124	1136	N/A	INTRINSIC
Pfam:Perilipin	1144	1385	2.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000002911

SMART Domains

Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833

Domain	Start	End	E-Value	Type
PWWP	5	62	1.78e-19	SMART
low complexity region	90	109	N/A	INTRINSIC
low complexity region	127	136	N/A	INTRINSIC
low complexity region	137	153	N/A	INTRINSIC
low complexity region	163	175	N/A	INTRINSIC
low complexity region	181	196	N/A	INTRINSIC
low complexity region	212	243	N/A	INTRINSIC
low complexity region	252	272	N/A	INTRINSIC
low complexity region	273	300	N/A	INTRINSIC
low complexity region	301	311	N/A	INTRINSIC
coiled coil region	321	364	N/A	INTRINSIC
low complexity region	398	411	N/A	INTRINSIC
Pfam:LEDGF	468	569	2.8e-31	PFAM
internal_repeat_1	575	644	2.5e-5	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000190703
AA Change: T1021S

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

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T1021S

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
internal_repeat_2	74	335	9.44e-7	PROSPERO
internal_repeat_1	103	467	2.72e-12	PROSPERO
internal_repeat_2	343	701	9.44e-7	PROSPERO
internal_repeat_1	598	1090	2.72e-12	PROSPERO
Pfam:Perilipin	1110	1385	1.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225843

Predicted Effect

probably benign
Transcript: ENSMUST00000226053

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (92/94)

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 PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased triglyceride in the heart and protection from cardiac steatosis induced by prolonged fasting, feeding or genetic obesity. [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
Abr	A	T	11: 76,459,212	I347N	probably damaging	Het
Acbd4	T	A	11: 103,104,159	L50Q	probably damaging	Het
Acsl5	T	G	19: 55,272,819	Y69*	probably null	Het
Agtpbp1	G	A	13: 59,504,294	T401I	probably damaging	Het
Ap3m2	C	T	8: 22,799,791	E99K	probably damaging	Het
Arhgef28	A	T	13: 97,988,261	S504R	possibly damaging	Het
Arsj	T	A	3: 126,439,103	D499E	probably damaging	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Camk2b	T	C	11: 5,989,575	D232G	probably damaging	Het
Casc3	C	T	11: 98,822,533	P258S	possibly damaging	Het
Catspere2	T	A	1: 178,017,714	I100N	probably damaging	Het
Ccdc80	T	A	16: 45,122,889	N787K	possibly damaging	Het
Celsr1	C	A	15: 85,905,478	C2653F	probably damaging	Het
Cep170	T	C	1: 176,756,485	E11G	probably damaging	Het
Chia1	A	C	3: 106,115,325	N12H	probably damaging	Het
Chrna4	T	C	2: 181,029,541	T141A	probably damaging	Het
Col25a1	T	C	3: 130,479,022		probably null	Het
Dcstamp	A	T	15: 39,759,533	I417F	probably damaging	Het
Dnah5	A	G	15: 28,238,592	I427V	probably benign	Het
Dnah5	A	G	15: 28,333,062	E2203G	probably benign	Het
Dnmt3c	A	T	2: 153,717,425	S409C	probably damaging	Het
Dock6	A	T	9: 21,813,079	M1541K	probably damaging	Het
Dzip1l	C	T	9: 99,665,835	T714I	probably benign	Het
Exoc6b	T	C	6: 84,848,825	R535G	probably damaging	Het
Fam196b	T	A	11: 34,402,030	V24E	probably damaging	Het
Fam83h	A	G	15: 76,004,739	S250P	probably benign	Het
Fat4	C	T	3: 38,981,958	T3253I	probably damaging	Het
Fer1l6	T	A	15: 58,629,378	F1302I	probably damaging	Het
Fmnl1	T	G	11: 103,194,774		probably benign	Het
Gckr	C	A	5: 31,302,210	F201L	possibly damaging	Het
Gm10036	A	G	18: 15,833,235	T148A	probably benign	Het
Gm13178	G	T	4: 144,703,603	A272D	possibly damaging	Het
Gm5142	G	A	14: 59,178,460	S83F	probably benign	Het
Gm8765	G	T	13: 50,702,983	V886L	possibly damaging	Het
Gpr37	A	T	6: 25,689,005	V31D	possibly damaging	Het
Gramd3	A	T	18: 56,485,249	Y207F	probably damaging	Het
Hr	T	C	14: 70,563,684		probably null	Het
Igf2r	A	G	17: 12,733,866	L231P	probably damaging	Het
Ighv1-66	A	T	12: 115,593,537	W3R	probably damaging	Het
Kcnu1	T	C	8: 25,918,463	S101P	probably benign	Het
Klhl23	T	G	2: 69,833,966	V553G	probably damaging	Het
Lrp1	T	C	10: 127,552,876	I3235V	probably damaging	Het
Mb	A	T	15: 77,016,056	I57N	probably damaging	Het
Micu1	T	C	10: 59,789,021	I295T	possibly damaging	Het
Mink1	G	A	11: 70,607,775	V589I	possibly damaging	Het
Mndal	T	C	1: 173,875,594	K82E	probably damaging	Het
Mroh1	A	C	15: 76,437,317	K1066T	probably benign	Het
Muc5b	T	A	7: 141,842,455	N149K	unknown	Het
Myo7b	G	T	18: 31,971,573	L1404I	probably damaging	Het
Nlrc4	A	G	17: 74,446,006	S461P	probably damaging	Het
Nudt12	A	T	17: 59,003,353	D418E	probably benign	Het
Olfr130	T	A	17: 38,068,057	D295E	probably benign	Het
Olfr996	G	T	2: 85,579,402	R54S	possibly damaging	Het
Pcdha1	A	G	18: 37,159,273	H817R	probably damaging	Het
Pcdha4	A	G	18: 36,954,027	Y421C	probably damaging	Het
Pcf11	T	C	7: 92,657,678	D1094G	probably benign	Het
Pck2	A	T	14: 55,547,766	D427V	probably damaging	Het
Pclo	A	G	5: 14,676,407	T1760A	probably benign	Het
Pdzk1ip1	T	A	4: 115,092,991	Y83N	probably damaging	Het
Pgs1	T	C	11: 118,002,486	I213T	probably damaging	Het
Plxnb1	T	A	9: 109,112,307	I1677N	probably damaging	Het
Pm20d2	T	C	4: 33,174,752	E378G	possibly damaging	Het
Prkcq	T	G	2: 11,226,850		probably null	Het
Psmd2	C	T	16: 20,662,133	P780L	probably damaging	Het
Pvr	A	G	7: 19,905,180	S392P	possibly damaging	Het
Rad51ap2	G	C	12: 11,457,431	L451F	possibly damaging	Het
Rbm20	A	G	19: 53,834,766	E598G	probably damaging	Het
Rho	A	T	6: 115,935,543	N123Y	possibly damaging	Het
Rictor	T	C	15: 6,708,453		probably null	Het
Rilpl2	T	G	5: 124,468,593	K186T	probably damaging	Het
Rps6ka4	A	C	19: 6,839,624	L61R	probably damaging	Het
Sds	C	A	5: 120,480,825	Q118K	probably benign	Het
Sept1	C	T	7: 127,216,985	R91K	probably benign	Het
Sf3a3	A	G	4: 124,722,880	Y185C	probably damaging	Het
Shtn1	T	C	19: 59,009,834	M376V	possibly damaging	Het
Slc6a9	A	G	4: 117,857,436	T189A	possibly damaging	Het
Slc7a6	T	G	8: 106,195,974	V464G	possibly damaging	Het
Smg8	T	A	11: 87,085,093	D554V	probably damaging	Het
Sox8	A	G	17: 25,570,108		probably null	Het
Spats2l	T	A	1: 57,879,530	V41D	probably damaging	Het
Sult2a3	A	T	7: 14,067,568	F282Y	probably damaging	Het
Svs3a	T	G	2: 164,290,171	Y220D	probably damaging	Het
Teddm1a	T	A	1: 153,892,623	Y278N	probably damaging	Het
Tlk1	T	C	2: 70,721,928	Y526C	probably damaging	Het
Tmc3	T	A	7: 83,616,817		probably null	Het
Ttn	T	A	2: 76,766,239	E20110V	probably damaging	Het
Tulp4	A	G	17: 6,214,666	D235G	probably damaging	Het
Usp50	T	C	2: 126,780,475	Y55C	possibly damaging	Het
Vmn1r224	T	C	17: 20,419,527	L122P	probably benign	Het
Vmn2r62	A	G	7: 42,789,049	L121P	possibly damaging	Het
Whrn	G	T	4: 63,495,131		probably benign	Het
Zer1	G	T	2: 30,111,021	H129Q	probably benign	Het
Zfand4	G	A	6: 116,305,657	A64T	probably benign	Het

Other mutations in Plin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Plin4	APN	17	56107362	missense	probably damaging	0.98
IGL02121:Plin4	APN	17	56102131	missense	probably damaging	0.98
IGL02254:Plin4	APN	17	56104733	missense	probably damaging	0.98
IGL02539:Plin4	APN	17	56106680	missense	probably damaging	1.00
IGL02892:Plin4	APN	17	56105108	missense	probably damaging	1.00
IGL03051:Plin4	APN	17	56105417	missense	possibly damaging	0.91
IGL03258:Plin4	APN	17	56104371	missense	probably benign	0.05
PIT4519001:Plin4	UTSW	17	56103828	missense	probably benign	0.23
R0211:Plin4	UTSW	17	56102242	missense	probably damaging	1.00
R0365:Plin4	UTSW	17	56104667	missense	possibly damaging	0.93
R0545:Plin4	UTSW	17	56106567	missense	probably damaging	1.00
R0551:Plin4	UTSW	17	56106756	missense	probably benign	0.03
R0862:Plin4	UTSW	17	56103966	missense	probably benign	0.00
R0864:Plin4	UTSW	17	56103966	missense	probably benign	0.00
R1260:Plin4	UTSW	17	56104348	nonsense	probably null
R1650:Plin4	UTSW	17	56104931	missense	probably damaging	0.99
R1688:Plin4	UTSW	17	56109363	missense	possibly damaging	0.61
R1725:Plin4	UTSW	17	56106473	missense	probably damaging	1.00
R1803:Plin4	UTSW	17	56104931	missense	probably damaging	0.99
R1834:Plin4	UTSW	17	56103522	missense	probably damaging	0.97
R1953:Plin4	UTSW	17	56103849	missense	possibly damaging	0.49
R2860:Plin4	UTSW	17	56106668	missense	probably damaging	0.98
R2861:Plin4	UTSW	17	56106668	missense	probably damaging	0.98
R2915:Plin4	UTSW	17	56104389	missense	probably damaging	0.98
R3438:Plin4	UTSW	17	56107193	missense	probably benign	0.26
R3622:Plin4	UTSW	17	56104112	missense	possibly damaging	0.92
R3932:Plin4	UTSW	17	56106704	missense	probably benign	0.01
R4116:Plin4	UTSW	17	56102113	missense	probably benign	0.30
R4201:Plin4	UTSW	17	56104338	missense	probably damaging	1.00
R4529:Plin4	UTSW	17	56104274	missense	probably damaging	1.00
R4610:Plin4	UTSW	17	56105418	missense	probably benign	0.08
R4692:Plin4	UTSW	17	56103762	missense	probably damaging	1.00
R4693:Plin4	UTSW	17	56103762	missense	probably damaging	1.00
R4718:Plin4	UTSW	17	56106981	missense	possibly damaging	0.46
R5283:Plin4	UTSW	17	56106777	missense	probably benign	0.00
R5304:Plin4	UTSW	17	56106132	missense	probably benign	0.00
R5333:Plin4	UTSW	17	56104970	missense	probably benign	0.31
R5484:Plin4	UTSW	17	56104932	missense	possibly damaging	0.90
R5569:Plin4	UTSW	17	56102147	missense	probably benign	0.02
R5765:Plin4	UTSW	17	56102470	missense	possibly damaging	0.68
R5776:Plin4	UTSW	17	56104983	missense	probably damaging	0.99
R5828:Plin4	UTSW	17	56107064	missense	probably damaging	0.99
R5932:Plin4	UTSW	17	56106356	missense	possibly damaging	0.92
R5988:Plin4	UTSW	17	56109567	missense	probably benign	0.03
R6053:Plin4	UTSW	17	56108618	missense	probably benign	0.01
R6264:Plin4	UTSW	17	56104787	missense	possibly damaging	0.90
R6334:Plin4	UTSW	17	56103261	missense	probably benign	0.22
R6415:Plin4	UTSW	17	56103264	missense	probably damaging	1.00
R7302:Plin4	UTSW	17	56102330	missense	probably benign	0.00
R7342:Plin4	UTSW	17	56104608	missense	probably benign	0.01
R7352:Plin4	UTSW	17	56104427	missense	probably benign	0.16
R7354:Plin4	UTSW	17	56104427	missense	probably benign	0.16
R7505:Plin4	UTSW	17	56109357	missense	possibly damaging	0.56
R7540:Plin4	UTSW	17	56104883	missense	probably damaging	0.96
R7570:Plin4	UTSW	17	56106776	missense	probably benign	0.00
R7685:Plin4	UTSW	17	56102413	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTCGGAACTGTGTGAACACC -3'
(R):5'- TCACAGGGGCAGCAAATGTG -3'

Sequencing Primer
(F):5'- GTGGCTACATTACCTGAATGAGC -3'
(R):5'- TGTGGCCAAAGAAACAGTGC -3'

Posted On

2019-05-13