Incidental Mutation 'R7570:Plin4'
ID 585766
Institutional Source Beutler Lab
Gene Symbol Plin4
Ensembl Gene ENSMUSG00000002831
Gene Name perilipin 4
Synonyms S3-12
MMRRC Submission 045631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R7570 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56407591-56416803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56413776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 283 (M283K)
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: M283K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: M283K

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: M283K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: M283K

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (104/106)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,911,591 (GRCm39) T613I probably benign Het
Ajuba T C 14: 54,813,859 (GRCm39) E288G probably damaging Het
Ankrd12 C T 17: 66,292,355 (GRCm39) R1026K probably benign Het
Apol7b T C 15: 77,307,674 (GRCm39) T274A probably benign Het
Arid4a A T 12: 71,109,916 (GRCm39) R86* probably null Het
Asnsd1 C T 1: 53,387,417 (GRCm39) G70D probably damaging Het
Atg4c T A 4: 99,116,797 (GRCm39) V313D possibly damaging Het
Atp13a5 A C 16: 29,085,715 (GRCm39) C885G probably damaging Het
Bpifb9a A T 2: 154,104,183 (GRCm39) I209F possibly damaging Het
Bsn T C 9: 107,990,742 (GRCm39) D1670G probably damaging Het
Cct8 T A 16: 87,288,210 (GRCm39) I121F probably benign Het
Cd209a T G 8: 3,794,151 (GRCm39) D217A probably damaging Het
Cdk19 C T 10: 40,353,954 (GRCm39) S456L possibly damaging Het
Chd9 C T 8: 91,721,208 (GRCm39) H999Y unknown Het
Col5a1 G A 2: 27,841,395 (GRCm39) V339M unknown Het
Cr2 G A 1: 194,851,648 (GRCm39) R115* probably null Het
Cyb561 A T 11: 105,828,470 (GRCm39) F62I probably damaging Het
Cyp2c38 A T 19: 39,393,187 (GRCm39) N293K possibly damaging Het
Cyp2c69 A T 19: 39,848,342 (GRCm39) D293E probably damaging Het
Dcbld2 T A 16: 58,244,932 (GRCm39) C69S possibly damaging Het
Dcdc2a T C 13: 25,303,356 (GRCm39) S296P probably benign Het
Dmxl1 T A 18: 50,027,024 (GRCm39) I2044K possibly damaging Het
Dnah5 A G 15: 28,347,098 (GRCm39) D2527G probably damaging Het
Dnah6 T C 6: 73,126,413 (GRCm39) T1305A probably benign Het
Dnajc9 A G 14: 20,438,712 (GRCm39) V47A probably benign Het
Dnmt3b A G 2: 153,518,619 (GRCm39) Y594C probably damaging Het
Dph7 A G 2: 24,855,642 (GRCm39) D147G probably damaging Het
Drap1 T C 19: 5,473,380 (GRCm39) H164R possibly damaging Het
Dsg3 T A 18: 20,660,837 (GRCm39) V392E possibly damaging Het
Dxo A G 17: 35,056,616 (GRCm39) D81G probably benign Het
E230025N22Rik G T 18: 36,828,645 (GRCm39) T11K probably benign Het
Esyt1 A G 10: 128,354,801 (GRCm39) V533A possibly damaging Het
Etv3 T A 3: 87,443,338 (GRCm39) C307* probably null Het
Fam114a1 T A 5: 65,187,402 (GRCm39) probably null Het
Fam3c T A 6: 22,326,404 (GRCm39) probably benign Het
Fbn1 G T 2: 125,239,772 (GRCm39) T305K probably benign Het
Ggt1 A T 10: 75,421,428 (GRCm39) I484F probably damaging Het
Gpatch1 T C 7: 34,993,237 (GRCm39) D536G probably damaging Het
Gpx4 T C 10: 79,890,875 (GRCm39) I189T probably damaging Het
Gsr T A 8: 34,159,193 (GRCm39) C85S probably damaging Het
Gsta5 A T 9: 78,211,751 (GRCm39) D171V possibly damaging Het
Havcr1 T A 11: 46,661,369 (GRCm39) probably null Het
Heatr4 T C 12: 84,026,418 (GRCm39) T280A probably benign Het
Hmcn2 A T 2: 31,313,923 (GRCm39) E3532D probably benign Het
Hnrnpc T C 14: 52,312,556 (GRCm39) N308S possibly damaging Het
Ighv8-9 A G 12: 115,432,358 (GRCm39) V13A probably benign Het
Itgb2l A T 16: 96,227,439 (GRCm39) F535I probably benign Het
Kdm5a T G 6: 120,404,803 (GRCm39) D1348E probably damaging Het
Kndc1 CT C 7: 139,503,691 (GRCm39) probably null Het
Ky A G 9: 102,419,528 (GRCm39) I512V probably benign Het
Lamc1 A T 1: 153,119,021 (GRCm39) F866Y possibly damaging Het
Lbx1 C A 19: 45,223,687 (GRCm39) probably benign Het
Magel2 A G 7: 62,028,658 (GRCm39) T521A possibly damaging Het
Mgam A T 6: 40,723,367 (GRCm39) I491L probably benign Het
Mitd1 T C 1: 37,929,273 (GRCm39) E40G probably damaging Het
Mpzl3 A G 9: 44,981,985 (GRCm39) T218A probably benign Het
Mrpl42 A G 10: 95,316,827 (GRCm39) S77P probably benign Het
Mup5 C T 4: 61,752,911 (GRCm39) W37* probably null Het
Myh14 T C 7: 44,281,850 (GRCm39) I803V probably benign Het
Ncor2 T A 5: 125,107,153 (GRCm39) T744S Het
Ndufv3 A G 17: 31,746,596 (GRCm39) D162G probably damaging Het
Nostrin A G 2: 69,006,150 (GRCm39) E278G probably damaging Het
Nrxn1 T G 17: 90,469,807 (GRCm39) E1288A probably benign Het
Or4c11c A G 2: 88,661,472 (GRCm39) N4D possibly damaging Het
Or51b6b C A 7: 103,310,088 (GRCm39) R123L probably damaging Het
Or52h1 T A 7: 103,828,955 (GRCm39) Y220F probably damaging Het
Or8g55 A T 9: 39,784,751 (GRCm39) Y60F possibly damaging Het
Patj T A 4: 98,312,737 (GRCm39) probably null Het
Pcm1 T G 8: 41,720,381 (GRCm39) I314R possibly damaging Het
Pcsk6 A G 7: 65,683,646 (GRCm39) T754A probably benign Het
Pde2a A T 7: 101,152,041 (GRCm39) N326I probably benign Het
Plekhg4 T C 8: 106,105,316 (GRCm39) S594P possibly damaging Het
Plekhm3 T C 1: 64,977,065 (GRCm39) D135G probably damaging Het
Ppfia3 T C 7: 44,990,172 (GRCm39) probably null Het
Prdm9 T C 17: 15,775,914 (GRCm39) N179S probably benign Het
Prrt3 T C 6: 113,471,449 (GRCm39) S908G probably damaging Het
Psg22 C A 7: 18,456,660 (GRCm39) S181Y possibly damaging Het
Rcor3 C A 1: 191,822,173 (GRCm39) G8V probably damaging Het
Rp1l1 T A 14: 64,269,023 (GRCm39) C1536* probably null Het
Rpp25l T C 4: 41,712,529 (GRCm39) H82R probably damaging Het
Rps3a1 T A 3: 86,046,396 (GRCm39) M172L probably benign Het
Rtbdn T C 8: 85,679,556 (GRCm39) L110P probably damaging Het
Ryr1 T A 7: 28,778,010 (GRCm39) Q2169L probably damaging Het
Scn4a A T 11: 106,211,299 (GRCm39) C1573S possibly damaging Het
Sec16b A T 1: 157,358,965 (GRCm39) probably null Het
Serpina1a A T 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Sh3gl3 T C 7: 81,934,285 (GRCm39) M262T probably benign Het
Sos2 G A 12: 69,637,654 (GRCm39) T1052M probably damaging Het
Spag16 G A 1: 70,036,000 (GRCm39) V343I probably benign Het
Spocd1 T G 4: 129,823,957 (GRCm39) D251E Het
Stc2 G T 11: 31,317,798 (GRCm39) N74K probably damaging Het
Tasor2 A G 13: 3,623,621 (GRCm39) Y2110H probably damaging Het
Thbs3 C T 3: 89,126,359 (GRCm39) Q227* probably null Het
Tmem92 A C 11: 94,669,816 (GRCm39) I105R probably benign Het
Tmod1 T A 4: 46,083,632 (GRCm39) N20K probably benign Het
Tns1 T C 1: 73,992,638 (GRCm39) D53G probably damaging Het
Tspan33 T A 6: 29,717,337 (GRCm39) L246Q probably damaging Het
Ttc16 A G 2: 32,658,980 (GRCm39) L392P probably damaging Het
Uggt1 T A 1: 36,224,919 (GRCm39) T572S probably benign Het
Usp17la A T 7: 104,509,604 (GRCm39) T70S probably damaging Het
Usp31 C T 7: 121,274,186 (GRCm39) R370H probably damaging Het
Wdr83 C T 8: 85,806,463 (GRCm39) V112M probably damaging Het
Zbtb25 T A 12: 76,416,366 (GRCm39) probably benign Het
Zfp110 T A 7: 12,583,267 (GRCm39) N638K possibly damaging Het
Zfp747l1 T A 7: 126,984,455 (GRCm39) S216C probably benign Het
Zfp820 T C 17: 22,037,994 (GRCm39) T445A probably benign 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
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'- ACAGACTTGGTAGTGTCCAGGC -3'
(R):5'- TCTGTGGTCATGGGCACTAAG -3'

Sequencing Primer
(F):5'- TGGACAGCACCTTTAGCCACG -3'
(R):5'- TGGTCATGGGCACTAAGGACAC -3'
Posted On 2019-10-17