Incidental Mutation 'R7354:Plin4'
ID |
570844 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plin4
|
Ensembl Gene |
ENSMUSG00000002831 |
Gene Name |
perilipin 4 |
Synonyms |
S3-12 |
MMRRC Submission |
045440-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R7354 (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 G
at 56411427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 868
(M868T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000002911]
[ENSMUST00000190703]
[ENSMUST00000225843]
[ENSMUST00000226053]
|
AlphaFold |
O88492 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002908
AA Change: M868T
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000002908 Gene: ENSMUSG00000002831 AA Change: M868T
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000190703
AA Change: M868T
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000139859 Gene: ENSMUSG00000002831 AA Change: M868T
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000225843
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226053
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (82/82) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago3 |
T |
A |
4: 126,311,099 (GRCm39) |
Q38L |
possibly damaging |
Het |
Apon |
T |
A |
10: 128,090,607 (GRCm39) |
I95N |
probably benign |
Het |
Arid1a |
G |
T |
4: 133,421,258 (GRCm39) |
P464Q |
unknown |
Het |
Arid4b |
A |
G |
13: 14,339,455 (GRCm39) |
D503G |
probably benign |
Het |
Asxl2 |
T |
C |
12: 3,505,637 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
T |
7: 126,048,028 (GRCm39) |
V594D |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,215 (GRCm39) |
F519L |
possibly damaging |
Het |
Bora |
A |
G |
14: 99,284,794 (GRCm39) |
T15A |
probably damaging |
Het |
Btbd7 |
A |
T |
12: 102,804,464 (GRCm39) |
M192K |
probably benign |
Het |
Ccdc125 |
T |
G |
13: 100,814,382 (GRCm39) |
|
probably null |
Het |
Cdcp3 |
G |
A |
7: 130,858,458 (GRCm39) |
C1042Y |
possibly damaging |
Het |
Cdcp3 |
G |
T |
7: 130,873,762 (GRCm39) |
C1696F |
unknown |
Het |
Cfap74 |
G |
T |
4: 155,549,804 (GRCm39) |
V146L |
unknown |
Het |
Crisp1 |
G |
A |
17: 40,630,071 (GRCm39) |
|
probably benign |
Het |
Ctbp1 |
A |
T |
5: 33,407,732 (GRCm39) |
H292Q |
possibly damaging |
Het |
Defb5 |
T |
A |
8: 19,300,750 (GRCm39) |
M34K |
probably benign |
Het |
Dnajc27 |
A |
G |
12: 4,146,249 (GRCm39) |
I93V |
probably benign |
Het |
Dqx1 |
T |
A |
6: 83,037,957 (GRCm39) |
Y448* |
probably null |
Het |
Dynap |
A |
T |
18: 70,374,371 (GRCm39) |
C52S |
possibly damaging |
Het |
Ehd4 |
C |
A |
2: 119,932,613 (GRCm39) |
R271L |
probably damaging |
Het |
Ercc2 |
T |
G |
7: 19,127,579 (GRCm39) |
I619S |
possibly damaging |
Het |
Etf1 |
A |
G |
18: 35,039,040 (GRCm39) |
I409T |
probably damaging |
Het |
Fam117a |
A |
G |
11: 95,271,529 (GRCm39) |
D367G |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,572,907 (GRCm39) |
D1447G |
unknown |
Het |
Fbxw9 |
T |
C |
8: 85,788,825 (GRCm39) |
S192P |
probably damaging |
Het |
Frzb |
A |
T |
2: 80,277,153 (GRCm39) |
L11Q |
probably damaging |
Het |
Gm14496 |
T |
C |
2: 181,642,479 (GRCm39) |
S717P |
probably damaging |
Het |
Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
Gm4353 |
C |
T |
7: 115,683,146 (GRCm39) |
R145Q |
probably benign |
Het |
Gpr12 |
A |
T |
5: 146,520,772 (GRCm39) |
V50D |
probably damaging |
Het |
Hes1 |
T |
C |
16: 29,884,746 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,682,196 (GRCm39) |
C451* |
probably null |
Het |
Iars1 |
T |
C |
13: 49,857,796 (GRCm39) |
V347A |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,903,770 (GRCm39) |
S323P |
possibly damaging |
Het |
Itga6 |
G |
A |
2: 71,650,574 (GRCm39) |
A207T |
probably damaging |
Het |
Lgi4 |
T |
A |
7: 30,760,047 (GRCm39) |
L81H |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,407,277 (GRCm39) |
E1888G |
probably damaging |
Het |
Man2a1 |
C |
T |
17: 65,059,539 (GRCm39) |
T1142M |
probably damaging |
Het |
Mdfic2 |
T |
A |
6: 98,215,242 (GRCm39) |
D127V |
probably damaging |
Het |
Mgam |
A |
T |
6: 40,721,732 (GRCm39) |
Y350F |
probably damaging |
Het |
Miga1 |
T |
C |
3: 151,996,137 (GRCm39) |
D351G |
probably damaging |
Het |
Mro |
A |
G |
18: 74,006,385 (GRCm39) |
T111A |
probably benign |
Het |
Mtrr |
A |
T |
13: 68,714,326 (GRCm39) |
V471E |
probably damaging |
Het |
Myh3 |
C |
A |
11: 66,987,708 (GRCm39) |
L1394I |
probably damaging |
Het |
Myocd |
A |
G |
11: 65,078,319 (GRCm39) |
V492A |
probably benign |
Het |
Nbeal2 |
A |
G |
9: 110,458,247 (GRCm39) |
F2115S |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,072,376 (GRCm39) |
M489K |
possibly damaging |
Het |
Or12j5 |
A |
C |
7: 140,084,099 (GRCm39) |
I91R |
probably damaging |
Het |
Or14j7 |
A |
G |
17: 38,235,284 (GRCm39) |
I276V |
probably benign |
Het |
Or1e1c |
A |
T |
11: 73,266,201 (GRCm39) |
I212F |
probably benign |
Het |
Or4c122 |
T |
C |
2: 89,079,031 (GRCm39) |
|
probably null |
Het |
Or4k44 |
C |
T |
2: 111,367,909 (GRCm39) |
A242T |
possibly damaging |
Het |
Orc2 |
A |
G |
1: 58,508,906 (GRCm39) |
S462P |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,125,706 (GRCm39) |
T155A |
probably benign |
Het |
Pcdhb16 |
G |
A |
18: 37,611,177 (GRCm39) |
V46I |
possibly damaging |
Het |
Pcdhb22 |
A |
G |
18: 37,653,311 (GRCm39) |
D336G |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,626,646 (GRCm39) |
R1297S |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,049,928 (GRCm39) |
M531T |
possibly damaging |
Het |
Poc5 |
T |
C |
13: 96,531,033 (GRCm39) |
V77A |
probably benign |
Het |
Recql5 |
G |
A |
11: 115,819,027 (GRCm39) |
R180C |
probably damaging |
Het |
Rho |
C |
A |
6: 115,912,464 (GRCm39) |
Y268* |
probably null |
Het |
Riok1 |
A |
T |
13: 38,231,288 (GRCm39) |
H182L |
probably benign |
Het |
Rnf207 |
T |
C |
4: 152,398,548 (GRCm39) |
D273G |
probably damaging |
Het |
Serpinb11 |
A |
G |
1: 107,305,263 (GRCm39) |
Y213C |
probably benign |
Het |
Slc16a10 |
T |
C |
10: 39,952,951 (GRCm39) |
Y181C |
probably damaging |
Het |
Slc22a15 |
G |
A |
3: 101,771,897 (GRCm39) |
H401Y |
probably benign |
Het |
Slc5a5 |
C |
A |
8: 71,342,247 (GRCm39) |
R268L |
probably damaging |
Het |
Slc9a8 |
T |
C |
2: 167,316,051 (GRCm39) |
F576S |
possibly damaging |
Het |
Slx4 |
T |
C |
16: 3,804,963 (GRCm39) |
E617G |
probably benign |
Het |
Spata31d1e |
A |
T |
13: 59,889,648 (GRCm39) |
L724* |
probably null |
Het |
Top1 |
T |
C |
2: 160,546,878 (GRCm39) |
I386T |
probably damaging |
Het |
Tor1aip1 |
G |
T |
1: 155,911,859 (GRCm39) |
D41E |
probably damaging |
Het |
Tsc22d4 |
G |
A |
5: 137,766,371 (GRCm39) |
R479Q |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,108,961 (GRCm39) |
T2191I |
possibly damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,043 (GRCm39) |
D771E |
probably damaging |
Het |
Vmn2r82 |
A |
C |
10: 79,192,464 (GRCm39) |
M14L |
probably benign |
Het |
Zc3h7a |
C |
T |
16: 10,966,378 (GRCm39) |
S583N |
probably damaging |
Het |
Zfp518b |
G |
A |
5: 38,840,122 (GRCm39) |
|
probably benign |
Het |
Zswim4 |
A |
G |
8: 84,955,478 (GRCm39) |
W314R |
probably damaging |
Het |
|
Other mutations in Plin4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- ACATTAATGGCACCTGTGAGTC -3'
(R):5'- ATGTGGCCAAAGGTACCATCC -3'
Sequencing Primer
(F):5'- ACCTGTGAGTCCTGTGGTCAC -3'
(R):5'- CAAAGGTACCATCCAGGGCG -3'
|
Posted On |
2019-09-13 |