Mutagenetix > Incidental Mutation

Incidental Mutation 'R8309:Plin4'

641301

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

067794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R8309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56407591-56416803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56411437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 865 (T865A)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

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

AlphaFold

O88492

Predicted Effect

probably damaging
Transcript: ENSMUST00000002908
AA Change: T865A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T865A

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: T865A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T865A

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	A	2: 35,279,599 (GRCm39)	Y34F	possibly damaging	Het
Abcb6	A	T	1: 75,149,588 (GRCm39)	S664T	probably benign	Het
Abcc4	C	T	14: 118,853,804 (GRCm39)	V443M	probably damaging	Het
Abhd2	G	A	7: 78,998,095 (GRCm39)	G209D	probably damaging	Het
Acte1	A	G	7: 143,437,680 (GRCm39)	N126S	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Apbb2	T	A	5: 66,520,179 (GRCm39)	M449L	probably benign	Het
Ccdc81	T	A	7: 89,526,786 (GRCm39)		probably null	Het
Cd209b	A	T	8: 3,976,559 (GRCm39)	C42*	probably null	Het
Cdhr18	G	A	14: 13,814,954 (GRCm38)	Q860*	probably null	Het
Clec18a	A	T	8: 111,808,689 (GRCm39)	M11K	probably benign	Het
Clock	A	T	5: 76,402,269 (GRCm39)	S130R	probably benign	Het
Col12a1	G	A	9: 79,512,465 (GRCm39)	A2910V	possibly damaging	Het
Col6a4	C	T	9: 105,952,414 (GRCm39)	A495T	probably benign	Het
Cyp4f37	A	T	17: 32,853,952 (GRCm39)	N467I	probably damaging	Het
Ddo	G	A	10: 40,513,375 (GRCm39)	V106M	possibly damaging	Het
Dennd5a	A	G	7: 109,500,332 (GRCm39)	L931P	probably damaging	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Dnah7b	T	C	1: 46,179,032 (GRCm39)	S902P	probably damaging	Het
Dnal4	T	G	15: 79,646,711 (GRCm39)	I57L	probably benign	Het
Dst	T	A	1: 34,156,592 (GRCm39)	I174N	probably damaging	Het
Dync2i1	T	C	12: 116,219,705 (GRCm39)	E79G	probably damaging	Het
Dync2i2	A	G	2: 29,922,201 (GRCm39)	L420P	probably damaging	Het
Eeig2	G	A	3: 108,934,658 (GRCm39)		probably benign	Het
Efhb	T	C	17: 53,756,563 (GRCm39)	T363A	probably damaging	Het
Ehbp1l1	A	G	19: 5,767,103 (GRCm39)	F1245S	probably damaging	Het
Eif4g1	A	G	16: 20,507,578 (GRCm39)	D1453G	probably benign	Het
Fbp1	T	C	13: 63,016,831 (GRCm39)	I224V	probably benign	Het
Gm10782	T	G	13: 56,510,948 (GRCm39)	F79V	noncoding transcript	Het
Gpaa1	C	G	15: 76,216,160 (GRCm39)	R47G	possibly damaging	Het
Hs2st1	G	A	3: 144,143,365 (GRCm39)	S226L	possibly damaging	Het
Hydin	A	G	8: 111,334,534 (GRCm39)	Y4992C	probably benign	Het
Ikbke	A	T	1: 131,191,065 (GRCm39)	C549*	probably null	Het
Insrr	G	A	3: 87,717,749 (GRCm39)	G817S	probably benign	Het
Itgb5	G	A	16: 33,685,923 (GRCm39)	V88I	probably benign	Het
Krt78	A	G	15: 101,854,922 (GRCm39)	V963A	probably benign	Het
Lars1	T	C	18: 42,376,093 (GRCm39)	Y239C	possibly damaging	Het
Map2k5	A	G	9: 63,246,361 (GRCm39)		probably null	Het
Mfn2	A	T	4: 147,974,693 (GRCm39)	W118R	probably benign	Het
Mga	T	A	2: 119,791,411 (GRCm39)	I2550N	probably damaging	Het
Mgam	A	G	6: 40,722,111 (GRCm39)	I401V	possibly damaging	Het
Mrps18c	A	G	5: 100,952,264 (GRCm39)	Y141C	probably damaging	Het
Myo1e	A	T	9: 70,254,045 (GRCm39)	I565L	possibly damaging	Het
Nfatc4	G	A	14: 56,063,848 (GRCm39)	E112K	probably damaging	Het
Nubp1	A	G	16: 10,239,486 (GRCm39)	M255V	probably benign	Het
Or13n4	A	C	7: 106,423,620 (GRCm39)	S38A	probably benign	Het
Or52a33	A	G	7: 103,288,658 (GRCm39)	S230P	probably damaging	Het
Or8g33	C	T	9: 39,337,966 (GRCm39)	V134I	probably benign	Het
Pask	A	T	1: 93,240,573 (GRCm39)	C1264*	probably null	Het
Pcgf2	T	C	11: 97,582,569 (GRCm39)	T173A	probably benign	Het
Plcg1	T	C	2: 160,595,853 (GRCm39)	I574T	probably benign	Het
Pnpt1	T	C	11: 29,103,277 (GRCm39)	V514A	probably benign	Het
Ppp1r3a	T	A	6: 14,719,700 (GRCm39)	I405F	probably benign	Het
Qpctl	A	G	7: 18,882,398 (GRCm39)	V86A	probably benign	Het
Rab3gap1	G	T	1: 127,837,655 (GRCm39)	W239L	possibly damaging	Het
Ralgapa2	T	A	2: 146,246,786 (GRCm39)	T939S	possibly damaging	Het
Rapgef2	G	T	3: 78,990,509 (GRCm39)	T923N	possibly damaging	Het
Rit2	T	A	18: 31,286,898 (GRCm39)	I96F	probably damaging	Het
Rnase13	A	T	14: 52,159,893 (GRCm39)	I82N	probably damaging	Het
Rp1	C	A	1: 4,417,312 (GRCm39)	V1267L	probably benign	Het
Serpinb9b	G	A	13: 33,223,554 (GRCm39)	E249K	probably damaging	Het
Serpinb9c	G	T	13: 33,334,094 (GRCm39)	T344K	possibly damaging	Het
Serpinh1	T	C	7: 98,998,151 (GRCm39)	I160V	possibly damaging	Het
Sipa1	A	G	19: 5,704,964 (GRCm39)	S544P	probably damaging	Het
Slc17a5	A	T	9: 78,478,311 (GRCm39)	Y231*	probably null	Het
Srcap	T	C	7: 127,148,529 (GRCm39)	V1959A	probably damaging	Het
Srrm4	G	A	5: 116,729,626 (GRCm39)		probably benign	Het
Stat1	T	C	1: 52,190,404 (GRCm39)	I553T	possibly damaging	Het
Stpg1	A	G	4: 135,256,903 (GRCm39)	I231M	probably benign	Het
Szt2	G	GC	4: 118,232,679 (GRCm39)		probably null	Het
Trpv3	C	T	11: 73,170,747 (GRCm39)	T209M	probably damaging	Het
Tsc22d2	G	T	3: 58,324,544 (GRCm39)	G479C	unknown	Het
Ttc3	A	G	16: 94,267,838 (GRCm39)	H1950R	probably damaging	Het
Tusc3	A	G	8: 39,617,882 (GRCm39)	*348W	probably null	Het
Utp4	A	T	8: 107,642,853 (GRCm39)	T504S	probably benign	Het
Vmn1r15	A	G	6: 57,235,635 (GRCm39)	M168V	probably benign	Het
Wdsub1	C	T	2: 59,704,578 (GRCm39)		probably benign	Het
Xrcc5	T	A	1: 72,358,286 (GRCm39)	M207K	possibly damaging	Het
Zc3h7a	A	T	16: 10,964,417 (GRCm39)		probably benign	Het
Zdbf2	T	A	1: 63,345,750 (GRCm39)	N1376K	possibly damaging	Het
Zfp558	A	C	9: 18,368,213 (GRCm39)	S192A	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp964	A	G	8: 70,115,924 (GRCm39)	T175A	possibly damaging	Het
Zfp988	A	G	4: 147,416,765 (GRCm39)	R400G	probably damaging	Het

Other mutations in Plin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Plin4	APN	17	56,414,362 (GRCm39)	missense	probably damaging	0.98
IGL02121:Plin4	APN	17	56,409,131 (GRCm39)	missense	probably damaging	0.98
IGL02254:Plin4	APN	17	56,411,733 (GRCm39)	missense	probably damaging	0.98
IGL02539:Plin4	APN	17	56,413,680 (GRCm39)	missense	probably damaging	1.00
IGL02892:Plin4	APN	17	56,412,108 (GRCm39)	missense	probably damaging	1.00
IGL03051:Plin4	APN	17	56,412,417 (GRCm39)	missense	possibly damaging	0.91
IGL03258:Plin4	APN	17	56,411,371 (GRCm39)	missense	probably benign	0.05
PIT4519001:Plin4	UTSW	17	56,410,828 (GRCm39)	missense	probably benign	0.23
R0211:Plin4	UTSW	17	56,409,242 (GRCm39)	missense	probably damaging	1.00
R0365:Plin4	UTSW	17	56,411,667 (GRCm39)	missense	possibly damaging	0.93
R0545:Plin4	UTSW	17	56,413,567 (GRCm39)	missense	probably damaging	1.00
R0551:Plin4	UTSW	17	56,413,756 (GRCm39)	missense	probably benign	0.03
R0862:Plin4	UTSW	17	56,410,966 (GRCm39)	missense	probably benign	0.00
R0864:Plin4	UTSW	17	56,410,966 (GRCm39)	missense	probably benign	0.00
R1260:Plin4	UTSW	17	56,411,348 (GRCm39)	nonsense	probably null
R1650:Plin4	UTSW	17	56,411,931 (GRCm39)	missense	probably damaging	0.99
R1688:Plin4	UTSW	17	56,416,363 (GRCm39)	missense	possibly damaging	0.61
R1725:Plin4	UTSW	17	56,413,473 (GRCm39)	missense	probably damaging	1.00
R1803:Plin4	UTSW	17	56,411,931 (GRCm39)	missense	probably damaging	0.99
R1834:Plin4	UTSW	17	56,410,522 (GRCm39)	missense	probably damaging	0.97
R1953:Plin4	UTSW	17	56,410,849 (GRCm39)	missense	possibly damaging	0.49
R2860:Plin4	UTSW	17	56,413,668 (GRCm39)	missense	probably damaging	0.98
R2861:Plin4	UTSW	17	56,413,668 (GRCm39)	missense	probably damaging	0.98
R2915:Plin4	UTSW	17	56,411,389 (GRCm39)	missense	probably damaging	0.98
R3438:Plin4	UTSW	17	56,414,193 (GRCm39)	missense	probably benign	0.26
R3622:Plin4	UTSW	17	56,411,112 (GRCm39)	missense	possibly damaging	0.92
R3932:Plin4	UTSW	17	56,413,704 (GRCm39)	missense	probably benign	0.01
R4116:Plin4	UTSW	17	56,409,113 (GRCm39)	missense	probably benign	0.30
R4201:Plin4	UTSW	17	56,411,338 (GRCm39)	missense	probably damaging	1.00
R4529:Plin4	UTSW	17	56,411,274 (GRCm39)	missense	probably damaging	1.00
R4610:Plin4	UTSW	17	56,412,418 (GRCm39)	missense	probably benign	0.08
R4692:Plin4	UTSW	17	56,410,762 (GRCm39)	missense	probably damaging	1.00
R4693:Plin4	UTSW	17	56,410,762 (GRCm39)	missense	probably damaging	1.00
R4718:Plin4	UTSW	17	56,413,981 (GRCm39)	missense	possibly damaging	0.46
R5283:Plin4	UTSW	17	56,413,777 (GRCm39)	missense	probably benign	0.00
R5304:Plin4	UTSW	17	56,413,132 (GRCm39)	missense	probably benign	0.00
R5333:Plin4	UTSW	17	56,411,970 (GRCm39)	missense	probably benign	0.31
R5484:Plin4	UTSW	17	56,411,932 (GRCm39)	missense	possibly damaging	0.90
R5569:Plin4	UTSW	17	56,409,147 (GRCm39)	missense	probably benign	0.02
R5765:Plin4	UTSW	17	56,409,470 (GRCm39)	missense	possibly damaging	0.68
R5776:Plin4	UTSW	17	56,411,983 (GRCm39)	missense	probably damaging	0.99
R5828:Plin4	UTSW	17	56,414,064 (GRCm39)	missense	probably damaging	0.99
R5932:Plin4	UTSW	17	56,413,356 (GRCm39)	missense	possibly damaging	0.92
R5988:Plin4	UTSW	17	56,416,567 (GRCm39)	missense	probably benign	0.03
R6053:Plin4	UTSW	17	56,415,618 (GRCm39)	missense	probably benign	0.01
R6264:Plin4	UTSW	17	56,411,787 (GRCm39)	missense	possibly damaging	0.90
R6334:Plin4	UTSW	17	56,410,261 (GRCm39)	missense	probably benign	0.22
R6415:Plin4	UTSW	17	56,410,264 (GRCm39)	missense	probably damaging	1.00
R7030:Plin4	UTSW	17	56,410,969 (GRCm39)	missense	probably damaging	1.00
R7302:Plin4	UTSW	17	56,409,330 (GRCm39)	missense	probably benign	0.00
R7342:Plin4	UTSW	17	56,411,608 (GRCm39)	missense	probably benign	0.01
R7352:Plin4	UTSW	17	56,411,427 (GRCm39)	missense	probably benign	0.16
R7354:Plin4	UTSW	17	56,411,427 (GRCm39)	missense	probably benign	0.16
R7505:Plin4	UTSW	17	56,416,357 (GRCm39)	missense	possibly damaging	0.56
R7540:Plin4	UTSW	17	56,411,883 (GRCm39)	missense	probably damaging	0.96
R7570:Plin4	UTSW	17	56,413,776 (GRCm39)	missense	probably benign	0.00
R7685:Plin4	UTSW	17	56,409,413 (GRCm39)	missense	probably benign	0.02
R7699:Plin4	UTSW	17	56,410,828 (GRCm39)	missense	probably benign	0.01
R8165:Plin4	UTSW	17	56,414,019 (GRCm39)	missense	possibly damaging	0.92
R8351:Plin4	UTSW	17	56,413,861 (GRCm39)	missense	probably benign	0.00
R8875:Plin4	UTSW	17	56,411,010 (GRCm39)	missense	probably benign	0.00
R9083:Plin4	UTSW	17	56,416,345 (GRCm39)	missense	possibly damaging	0.88
R9410:Plin4	UTSW	17	56,413,995 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GCAACATTAATGGCACCTGTG -3'
(R):5'- TGTGGCCAAAGGTACCATCC -3'

Sequencing Primer
(F):5'- ACATTAATGGCACCTGTGAGTCC -3'
(R):5'- CAAAGGTACCATCCAGGGCG -3'

Posted On

2020-07-28