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)
|
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
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 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
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |