Incidental Mutation 'R6053:Plin4'
ID 484276
Institutional Source Beutler Lab
Gene Symbol Plin4
Ensembl Gene ENSMUSG00000002831
Gene Name perilipin 4
Synonyms S3-12
MMRRC Submission 044221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56407591-56416803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56415618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 73 (D73E)
Ref Sequence ENSEMBL: ENSMUSP00000139859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000019808] [ENSMUST00000113072] [ENSMUST00000190703]
AlphaFold O88492
Predicted Effect probably benign
Transcript: ENSMUST00000002908
AA Change: D73E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: D73E

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 probably benign
Transcript: ENSMUST00000190703
AA Change: D73E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: D73E

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,964,666 (GRCm39) Y2158H probably damaging Het
Acap1 T G 11: 69,777,896 (GRCm39) probably null Het
Adamts4 T A 1: 171,080,284 (GRCm39) I279N possibly damaging Het
Akap3 A G 6: 126,843,496 (GRCm39) E705G probably damaging Het
Aoc1l3 A G 6: 48,965,422 (GRCm39) T477A probably benign Het
Arap3 C A 18: 38,123,824 (GRCm39) L398F probably damaging Het
Catsperg1 A T 7: 28,910,239 (GRCm39) L34* probably null Het
Ccdc171 T G 4: 83,713,456 (GRCm39) L1165R probably damaging Het
Ccdc3 G A 2: 5,233,838 (GRCm39) V221I probably benign Het
Cdc42ep4 T A 11: 113,619,812 (GRCm39) H193L probably damaging Het
Clcn1 G A 6: 42,277,208 (GRCm39) W361* probably null Het
Cntn2 T C 1: 132,446,090 (GRCm39) N832S probably benign Het
Col5a1 A T 2: 27,904,389 (GRCm39) probably benign Het
Cplane1 A G 15: 8,217,945 (GRCm39) D785G probably benign Het
Cspg4b C A 13: 113,457,260 (GRCm39) P1102Q possibly damaging Het
Ctc1 T A 11: 68,918,727 (GRCm39) M550K probably benign Het
Dennd5a T C 7: 109,532,952 (GRCm39) R273G probably damaging Het
Dnajb7 T C 15: 81,291,500 (GRCm39) E279G probably benign Het
Dop1a G T 9: 86,397,347 (GRCm39) G882W possibly damaging Het
Dvl2 A G 11: 69,896,819 (GRCm39) R238G possibly damaging Het
Ect2l A T 10: 18,017,592 (GRCm39) L629Q probably damaging Het
Enpp1 T C 10: 24,533,024 (GRCm39) D497G possibly damaging Het
Ep400 T C 5: 110,903,661 (GRCm39) M313V probably benign Het
Epn2 T C 11: 61,437,323 (GRCm39) Y83C probably damaging Het
Ercc3 T G 18: 32,379,807 (GRCm39) V338G probably damaging Het
Fkbp5 T C 17: 28,647,440 (GRCm39) I132V probably benign Het
Fn1 A T 1: 71,638,449 (GRCm39) Y1846N probably damaging Het
Foxg1 T C 12: 49,432,161 (GRCm39) L298P possibly damaging Het
Foxo3 G A 10: 42,073,210 (GRCm39) P436S probably benign Het
Gbx2 T C 1: 89,858,159 (GRCm39) T107A probably benign Het
Gli1 G T 10: 127,170,184 (GRCm39) H324N probably damaging Het
Gnas T A 2: 174,141,645 (GRCm39) S605T possibly damaging Het
Ica1 C T 6: 8,630,783 (GRCm39) A431T probably benign Het
Il10ra C T 9: 45,167,601 (GRCm39) D319N probably damaging Het
Jmjd4 T A 11: 59,344,870 (GRCm39) H274Q probably damaging Het
Krt28 C A 11: 99,262,027 (GRCm39) L294F probably benign Het
Ltbp3 C A 19: 5,802,122 (GRCm39) T766K probably damaging Het
Man2b2 C A 5: 36,970,382 (GRCm39) M841I probably benign Het
Mmp14 T A 14: 54,673,347 (GRCm39) M85K probably benign Het
Mmp1b T A 9: 7,385,031 (GRCm39) D206V probably benign Het
Muc5b T C 7: 141,418,445 (GRCm39) F3797S probably benign Het
Mug1 A G 6: 121,842,697 (GRCm39) D561G probably benign Het
Myo18a T A 11: 77,709,002 (GRCm39) H471Q probably damaging Het
Nfkb2 A G 19: 46,300,251 (GRCm39) E873G probably damaging Het
Ngfr G A 11: 95,461,832 (GRCm39) H361Y possibly damaging Het
Nnt T C 13: 119,494,045 (GRCm39) T679A possibly damaging Het
Notch1 A T 2: 26,362,924 (GRCm39) N947K probably benign Het
Nrg4 A T 9: 55,143,774 (GRCm39) V94D probably benign Het
Nsd1 G T 13: 55,441,422 (GRCm39) C1631F probably damaging Het
Nutm1 T C 2: 112,079,435 (GRCm39) T827A probably benign Het
Or2t47 T A 11: 58,442,892 (GRCm39) M58L possibly damaging Het
Or4c114 T C 2: 88,904,898 (GRCm39) D179G probably damaging Het
Or5h19 A T 16: 58,856,351 (GRCm39) Y250N probably damaging Het
Or6p1 C A 1: 174,258,135 (GRCm39) S47* probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Orai3 C T 7: 127,373,050 (GRCm39) P184S probably benign Het
Paqr3 A T 5: 97,259,137 (GRCm39) S56T probably benign Het
Pard6b C T 2: 167,940,973 (GRCm39) T320M possibly damaging Het
Pgs1 T C 11: 117,892,535 (GRCm39) S166P probably damaging Het
Plaa T C 4: 94,478,121 (GRCm39) T114A probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Rbak A C 5: 143,160,437 (GRCm39) Y205* probably null Het
Rgs12 T C 5: 35,123,296 (GRCm39) F360L probably benign Het
Rgs22 A T 15: 36,100,153 (GRCm39) D187E probably benign Het
Sec24d C T 3: 123,072,871 (GRCm39) Q66* probably null Het
Sh2d5 T A 4: 137,982,873 (GRCm39) M85K probably damaging Het
Sos1 A G 17: 80,722,463 (GRCm39) V861A possibly damaging Het
Stk11ip T A 1: 75,510,899 (GRCm39) probably null Het
Tmem26 G A 10: 68,584,314 (GRCm39) E127K probably benign Het
Tmem41a T G 16: 21,753,739 (GRCm39) T211P possibly damaging Het
Tmem69 T A 4: 116,410,581 (GRCm39) M130L possibly damaging Het
Trak2 C A 1: 58,943,228 (GRCm39) R726L possibly damaging Het
Vmn1r231 A G 17: 21,110,081 (GRCm39) I278T probably damaging Het
Vwf G A 6: 125,577,628 (GRCm39) V490I probably benign Het
Wdr33 C T 18: 32,011,116 (GRCm39) T255I possibly damaging Het
Ylpm1 G T 12: 85,043,277 (GRCm39) W5L possibly damaging Het
Zfp169 A T 13: 48,652,334 (GRCm39) W28R probably 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
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
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'- CAGAGCCCATAGGATTGCTGAAAG -3'
(R):5'- AGAATGTCCTCTCGCAGCTG -3'

Sequencing Primer
(F):5'- GAAAGGTTGTGCCCATTTCCCAG -3'
(R):5'- TGCGTCACATGGGCAAG -3'
Posted On 2017-07-14