Incidental Mutation 'R4529:Plin4'
ID 333055
Institutional Source Beutler Lab
Gene Symbol Plin4
Ensembl Gene ENSMUSG00000002831
Gene Name perilipin 4
Synonyms S3-12
MMRRC Submission 041592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4529 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 56407591-56416803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56411274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 919 (L919P)
Ref Sequence ENSEMBL: ENSMUSP00000139859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000002911] [ENSMUST00000190703] [ENSMUST00000225843] [ENSMUST00000226053]
AlphaFold O88492
Predicted Effect probably damaging
Transcript: ENSMUST00000002908
AA Change: L919P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: L919P

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: ENSMUST00000002911
SMART Domains Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833

DomainStartEndE-ValueType
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: L919P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: L919P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225731
Predicted Effect probably benign
Transcript: ENSMUST00000225843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225342
Predicted Effect probably benign
Transcript: ENSMUST00000226053
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,727,519 (GRCm39) Y483C possibly damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Aldh1a3 T C 7: 66,051,742 (GRCm39) N404D probably benign Het
Ankrd2 A T 19: 42,032,240 (GRCm39) I231F probably benign Het
Apba1 A G 19: 23,913,899 (GRCm39) N641D probably damaging Het
C1qbp T C 11: 70,869,550 (GRCm39) T178A probably benign Het
Chtf18 T C 17: 25,939,592 (GRCm39) Y64C probably damaging Het
Cyp1a1 A G 9: 57,608,962 (GRCm39) H281R probably benign Het
Ehmt2 A G 17: 35,132,707 (GRCm39) I1235V probably damaging Het
Fcamr A G 1: 130,732,313 (GRCm39) H44R probably damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm5460 A C 14: 33,767,769 (GRCm39) D459A probably damaging Het
H2-Q6 C T 17: 35,644,820 (GRCm39) T203I probably null Het
Inmt T C 6: 55,148,012 (GRCm39) M206V probably benign Het
Khdc3 T C 9: 73,011,301 (GRCm39) S360P possibly damaging Het
Lin54 G A 5: 100,594,419 (GRCm39) T582I possibly damaging Het
Ltbp1 T G 17: 75,458,355 (GRCm39) V312G probably benign Het
Nlrp9a T C 7: 26,270,832 (GRCm39) L899P probably damaging Het
Or6c1b T C 10: 129,273,287 (GRCm39) V202A probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pappa A G 4: 65,149,419 (GRCm39) I920V probably benign Het
Parp1 T A 1: 180,418,877 (GRCm39) V679E probably damaging Het
Pla2g4f C T 2: 120,131,100 (GRCm39) R785Q probably damaging Het
Plbd1 T A 6: 136,628,823 (GRCm39) I82F probably benign Het
Plekhm3 A G 1: 64,976,984 (GRCm39) V162A probably benign Het
Plxna4 C T 6: 32,473,831 (GRCm39) probably null Het
Pou3f3 C A 1: 42,737,714 (GRCm39) T470K probably benign Het
Prss38 T C 11: 59,264,325 (GRCm39) Y214C probably damaging Het
Retreg1 T A 15: 25,968,600 (GRCm39) Y109N probably damaging Het
Slco1c1 A G 6: 141,500,907 (GRCm39) Y413C probably damaging Het
Stk32a T C 18: 43,376,044 (GRCm39) C38R possibly damaging Het
Themis T C 10: 28,658,331 (GRCm39) F453L possibly damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tubgcp3 G T 8: 12,713,932 (GRCm39) L62I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Xpo7 G A 14: 70,906,188 (GRCm39) T986M probably damaging Het
Zfp51 C T 17: 21,684,998 (GRCm39) L538F probably damaging Het
Zfy1 A G Y: 726,511 (GRCm39) L418S 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
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
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'- ATCCAGACCCATTTGCACTG -3'
(R):5'- CTGGACACTACCAAATCTGTGG -3'

Sequencing Primer
(F):5'- AGACCCATTTGCACTGTTTCTTTGG -3'
(R):5'- CAAATCTGTGGTCATGGGCAC -3'
Posted On 2015-08-18