Incidental Mutation 'R2915:Plin4'
ID 254867
Institutional Source Beutler Lab
Gene Symbol Plin4
Ensembl Gene ENSMUSG00000002831
Gene Name perilipin 4
Synonyms S3-12
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56407591-56416803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56411389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 881 (T881S)
Ref Sequence ENSEMBL: ENSMUSP00000139859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000002911] [ENSMUST00000190703] [ENSMUST00000226053] [ENSMUST00000225843]
AlphaFold O88492
Predicted Effect probably damaging
Transcript: ENSMUST00000002908
AA Change: T881S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T881S

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: T881S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T881S

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: ENSMUST00000226053
Predicted Effect probably benign
Transcript: ENSMUST00000225843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225342
Meta Mutation Damage Score 0.1552 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null 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
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
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'- AGACTTGGTGGTATCCAGGC -3'
(R):5'- GTCTGTGGTCATGGGCACTAAG -3'

Sequencing Primer
(F):5'- GTGGTATCCAGGCCTCCTTG -3'
(R):5'- TGGTCATGGGCACTAAGGACAC -3'
Posted On 2014-12-29