Incidental Mutation 'R8165:Plin4'
ID 633750
Institutional Source Beutler Lab
Gene Symbol Plin4
Ensembl Gene ENSMUSG00000002831
Gene Name perilipin 4
Synonyms S3-12
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56407591-56416803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56414019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 202 (T202I)
Ref Sequence ENSEMBL: ENSMUSP00000139859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000019808] [ENSMUST00000113072] [ENSMUST00000190703]
AlphaFold O88492
Predicted Effect possibly damaging
Transcript: ENSMUST00000002908
AA Change: T202I

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T202I

DomainStartEndE-ValueType
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: ENSMUST00000019808
SMART Domains Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305

DomainStartEndE-ValueType
Pfam:Perilipin 31 383 1.2e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113072
SMART Domains Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305

DomainStartEndE-ValueType
Pfam:Perilipin 27 384 2.3e-128 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190703
AA Change: T202I

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T202I

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly damaging Het
Other mutations in Plin4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R8309:Plin4 UTSW 17 56,411,437 (GRCm39) missense probably damaging 0.98
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'- TGCCTTTAGCCACATTCATGG -3'
(R):5'- AAAGGTCTTGTCAAGGGAGGTC -3'

Sequencing Primer
(F):5'- ACATTCATGGCCCCTGTGAG -3'
(R):5'- CAAGGGAGGTCTTGACACTTC -3'
Posted On 2020-07-13