Incidental Mutation 'R4693:Plin4'
| ID |
355070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
041944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R4693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56410762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 1090
(G1090C)
|
| 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: G1090C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: G1090C
| 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: G1090C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: G1090C
| 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: ENSMUST00000225342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225731
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226053
|
| Meta Mutation Damage Score |
0.3299 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
C |
17: 85,004,125 (GRCm39) |
Y478H |
probably damaging |
Het |
| Adar |
A |
T |
3: 89,643,247 (GRCm39) |
H128L |
probably damaging |
Het |
| Angptl6 |
G |
T |
9: 20,786,598 (GRCm39) |
D349E |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,204,667 (GRCm39) |
T286A |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,186,019 (GRCm39) |
N510S |
probably damaging |
Het |
| Atoh7 |
G |
T |
10: 62,936,275 (GRCm39) |
R114L |
probably benign |
Het |
| Bank1 |
C |
G |
3: 135,953,437 (GRCm39) |
R106P |
probably damaging |
Het |
| Best1 |
C |
T |
19: 9,974,499 (GRCm39) |
G15D |
probably damaging |
Het |
| Best2 |
A |
T |
8: 85,737,832 (GRCm39) |
F188I |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,241 (GRCm39) |
Y344H |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,814,371 (GRCm39) |
L547P |
unknown |
Het |
| Cyp19a1 |
A |
T |
9: 54,080,617 (GRCm39) |
S247T |
possibly damaging |
Het |
| Cyp26a1 |
T |
C |
19: 37,686,925 (GRCm39) |
S126P |
probably benign |
Het |
| Dab1 |
G |
T |
4: 104,536,750 (GRCm39) |
C180F |
probably damaging |
Het |
| Dclk2 |
T |
C |
3: 86,722,400 (GRCm39) |
D412G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,325,928 (GRCm39) |
S764C |
unknown |
Het |
| Dync1li1 |
C |
A |
9: 114,535,166 (GRCm39) |
D143E |
probably damaging |
Het |
| Esm1 |
A |
T |
13: 113,346,594 (GRCm39) |
D73V |
probably damaging |
Het |
| Etfdh |
A |
T |
3: 79,513,110 (GRCm39) |
V431E |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,672,154 (GRCm39) |
R427H |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,375 (GRCm39) |
Y93C |
probably damaging |
Het |
| Gm6818 |
G |
A |
7: 38,100,126 (GRCm39) |
|
noncoding transcript |
Het |
| Gosr2 |
A |
G |
11: 103,574,755 (GRCm39) |
S114P |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,836,459 (GRCm39) |
V444I |
probably benign |
Het |
| Gvin-ps3 |
T |
G |
7: 105,681,585 (GRCm39) |
|
noncoding transcript |
Het |
| Haus4 |
G |
T |
14: 54,787,256 (GRCm39) |
A67E |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,591,738 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,501,695 (GRCm39) |
Y911H |
probably benign |
Het |
| Lim2 |
T |
C |
7: 43,080,105 (GRCm39) |
Y31H |
probably damaging |
Het |
| Lims2 |
G |
A |
18: 32,077,552 (GRCm39) |
R101H |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,799,161 (GRCm39) |
M236K |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,510,686 (GRCm39) |
E427D |
unknown |
Het |
| Lrrk1 |
T |
C |
7: 65,912,235 (GRCm39) |
Y1775C |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,844,407 (GRCm39) |
V197A |
possibly damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,329 (GRCm39) |
L268Q |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,084,726 (GRCm39) |
I216T |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,234,528 (GRCm39) |
C1016Y |
probably benign |
Het |
| Mvp |
C |
A |
7: 126,597,500 (GRCm39) |
V168F |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,282,494 (GRCm39) |
T176A |
probably benign |
Het |
| Myt1 |
T |
A |
2: 181,437,532 (GRCm39) |
L81Q |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,966,503 (GRCm39) |
L453S |
probably benign |
Het |
| Or4c1 |
T |
A |
2: 89,133,621 (GRCm39) |
E105V |
probably benign |
Het |
| Or4c114 |
T |
C |
2: 88,905,412 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or55b10 |
T |
A |
7: 102,143,659 (GRCm39) |
I108F |
probably damaging |
Het |
| Or5b125-ps1 |
C |
A |
19: 13,056,226 (GRCm39) |
|
noncoding transcript |
Het |
| Or5l14 |
A |
T |
2: 87,793,053 (GRCm39) |
F61Y |
probably benign |
Het |
| Pak4 |
A |
T |
7: 28,263,674 (GRCm39) |
M354K |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,173,383 (GRCm39) |
T2A |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,960 (GRCm39) |
D1146G |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,289,042 (GRCm39) |
|
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,650,671 (GRCm39) |
G467D |
possibly damaging |
Het |
| Pth1r |
A |
G |
9: 110,560,692 (GRCm39) |
V25A |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,068,219 (GRCm39) |
E1772D |
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,551,935 (GRCm39) |
H420R |
probably damaging |
Het |
| Sbds |
G |
A |
5: 130,279,816 (GRCm39) |
R63W |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,495,975 (GRCm39) |
T19A |
possibly damaging |
Het |
| Scn8a |
A |
T |
15: 100,913,572 (GRCm39) |
D988V |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,761,680 (GRCm39) |
Q34* |
probably null |
Het |
| Slc22a6 |
T |
A |
19: 8,601,016 (GRCm39) |
I403N |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,781,042 (GRCm39) |
Y574C |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,889,897 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,137,716 (GRCm39) |
V1022E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,815,635 (GRCm39) |
E292K |
possibly damaging |
Het |
| Tbx5 |
A |
T |
5: 119,979,964 (GRCm39) |
H170L |
probably damaging |
Het |
| Tcf12 |
A |
T |
9: 71,776,249 (GRCm39) |
|
probably benign |
Het |
| Themis |
G |
A |
10: 28,658,647 (GRCm39) |
R558H |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,640,170 (GRCm39) |
E849G |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,470,534 (GRCm39) |
|
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,953,956 (GRCm39) |
C707S |
possibly damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,803,270 (GRCm39) |
N201K |
probably benign |
Het |
| Zfp148 |
C |
T |
16: 33,288,505 (GRCm39) |
R207C |
probably damaging |
Het |
| Zfp648 |
G |
T |
1: 154,080,152 (GRCm39) |
A104S |
probably benign |
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 |
|
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'- TGCCCCAAGCCATATTTGTC -3'
(R):5'- ATACTTCGAACGCAGCACTC -3'
Sequencing Primer
(F):5'- CTGAGAAGCTGCTTGTCTCACAG -3'
(R):5'- GCACTCACAGGCACAATGG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation