Incidental Mutation 'R1688:Plin4'
ID |
189533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plin4
|
Ensembl Gene |
ENSMUSG00000002831 |
Gene Name |
perilipin 4 |
Synonyms |
S3-12 |
MMRRC Submission |
039721-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R1688 (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 56416363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 47
(D47V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000019808]
[ENSMUST00000113072]
[ENSMUST00000190703]
|
AlphaFold |
O88492 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002908
AA Change: D47V
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000002908 Gene: ENSMUSG00000002831 AA Change: D47V
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: ENSMUST00000019808
|
SMART Domains |
Protein: ENSMUSP00000019808 Gene: ENSMUSG00000011305
Domain | Start | End | E-Value | Type |
Pfam:Perilipin
|
31 |
383 |
1.2e-119 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113072
|
SMART Domains |
Protein: ENSMUSP00000108695 Gene: ENSMUSG00000011305
Domain | Start | End | E-Value | Type |
Pfam:Perilipin
|
27 |
384 |
2.3e-128 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190703
AA Change: D47V
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139859 Gene: ENSMUSG00000002831 AA Change: D47V
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (71/71) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
C |
13: 61,002,695 (GRCm39) |
T20A |
probably benign |
Het |
Acaca |
T |
G |
11: 84,129,722 (GRCm39) |
V359G |
probably damaging |
Het |
Adgb |
G |
A |
10: 10,226,061 (GRCm39) |
R1359* |
probably null |
Het |
Aggf1 |
T |
C |
13: 95,501,275 (GRCm39) |
E369G |
probably damaging |
Het |
Alkbh8 |
T |
A |
9: 3,382,765 (GRCm39) |
D418E |
probably damaging |
Het |
Alox8 |
T |
C |
11: 69,080,732 (GRCm39) |
D203G |
probably benign |
Het |
Ank |
A |
G |
15: 27,557,320 (GRCm39) |
D168G |
probably damaging |
Het |
Ap5m1 |
A |
G |
14: 49,318,291 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
A |
G |
10: 79,864,929 (GRCm39) |
Y964C |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,547,607 (GRCm39) |
D571G |
probably benign |
Het |
Bdh2 |
A |
T |
3: 135,007,399 (GRCm39) |
Y223F |
possibly damaging |
Het |
Bin1 |
T |
C |
18: 32,552,988 (GRCm39) |
|
probably benign |
Het |
Bin1 |
G |
A |
18: 32,558,025 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,316,779 (GRCm39) |
M1514L |
possibly damaging |
Het |
Cd109 |
T |
A |
9: 78,612,373 (GRCm39) |
F1253L |
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,426,843 (GRCm39) |
E1065V |
probably null |
Het |
Chmp2b |
T |
C |
16: 65,347,922 (GRCm39) |
N14S |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,258,093 (GRCm39) |
V2113A |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,849,794 (GRCm39) |
F1660L |
probably damaging |
Het |
Cyp2c37 |
T |
G |
19: 39,982,887 (GRCm39) |
|
probably null |
Het |
Daam1 |
A |
T |
12: 71,993,820 (GRCm39) |
I408F |
unknown |
Het |
Dsc3 |
T |
A |
18: 20,099,284 (GRCm39) |
D744V |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,117,093 (GRCm39) |
F379L |
probably damaging |
Het |
Ewsr1 |
G |
T |
11: 5,022,870 (GRCm39) |
D417E |
unknown |
Het |
Eya4 |
A |
T |
10: 22,999,759 (GRCm39) |
N424K |
probably damaging |
Het |
Gm9312 |
A |
C |
12: 24,301,920 (GRCm39) |
|
noncoding transcript |
Het |
Havcr2 |
T |
C |
11: 46,370,191 (GRCm39) |
I206T |
probably damaging |
Het |
Igfbp2 |
T |
C |
1: 72,864,125 (GRCm39) |
|
probably null |
Het |
Ikzf2 |
T |
C |
1: 69,581,439 (GRCm39) |
K196R |
possibly damaging |
Het |
Il12rb1 |
G |
A |
8: 71,272,046 (GRCm39) |
G587R |
probably damaging |
Het |
Immt |
A |
T |
6: 71,833,995 (GRCm39) |
H208L |
probably damaging |
Het |
Kcnq2 |
C |
T |
2: 180,728,826 (GRCm39) |
V540I |
probably damaging |
Het |
Klk1b8 |
T |
A |
7: 43,595,229 (GRCm39) |
|
probably benign |
Het |
Mc2r |
T |
A |
18: 68,541,090 (GRCm39) |
I68F |
possibly damaging |
Het |
Neil3 |
T |
C |
8: 54,054,069 (GRCm39) |
E320G |
probably damaging |
Het |
Nell2 |
T |
C |
15: 95,329,494 (GRCm39) |
T276A |
probably damaging |
Het |
Nphp3 |
T |
C |
9: 103,880,323 (GRCm39) |
L115P |
probably damaging |
Het |
Nras |
T |
C |
3: 102,967,689 (GRCm39) |
L95P |
probably benign |
Het |
Ogt |
G |
A |
X: 100,699,296 (GRCm39) |
V190I |
probably damaging |
Het |
Or11h6 |
A |
T |
14: 50,880,705 (GRCm39) |
K322N |
probably benign |
Het |
Or5t17 |
A |
G |
2: 86,832,730 (GRCm39) |
Y139C |
probably benign |
Het |
P2ry6 |
T |
A |
7: 100,587,591 (GRCm39) |
H256L |
probably damaging |
Het |
Pcbp4 |
T |
C |
9: 106,338,533 (GRCm39) |
S153P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,838,507 (GRCm39) |
|
probably null |
Het |
Per2 |
A |
G |
1: 91,351,551 (GRCm39) |
L985P |
probably damaging |
Het |
Pgap6 |
C |
T |
17: 26,337,882 (GRCm39) |
A422V |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,753,710 (GRCm39) |
N1678S |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,350,450 (GRCm39) |
S432G |
probably benign |
Het |
Ppp2cb |
A |
G |
8: 34,105,480 (GRCm39) |
I163M |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,739,700 (GRCm39) |
E577G |
probably benign |
Het |
Ptprd |
G |
T |
4: 75,900,921 (GRCm39) |
P1063T |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,514,656 (GRCm39) |
D866G |
probably benign |
Het |
Rdx |
T |
C |
9: 51,972,211 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
C |
T |
1: 153,680,422 (GRCm39) |
R760H |
probably damaging |
Het |
Rhno1 |
A |
G |
6: 128,334,897 (GRCm39) |
V142A |
probably benign |
Het |
Sema5a |
C |
T |
15: 32,669,570 (GRCm39) |
T698I |
probably benign |
Het |
Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
Slc22a3 |
A |
T |
17: 12,652,694 (GRCm39) |
M350K |
probably damaging |
Het |
Spata31d1b |
T |
A |
13: 59,863,274 (GRCm39) |
S141T |
possibly damaging |
Het |
Tada2a |
T |
C |
11: 83,975,585 (GRCm39) |
|
probably null |
Het |
Tspan10 |
A |
G |
11: 120,333,608 (GRCm39) |
M2V |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,685,391 (GRCm39) |
T566A |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,438,543 (GRCm39) |
Q1872R |
possibly damaging |
Het |
Zfp605 |
T |
A |
5: 110,276,907 (GRCm39) |
I675N |
possibly damaging |
Het |
Zkscan8 |
A |
T |
13: 21,704,324 (GRCm39) |
N538K |
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 |
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 |
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'- GCCTAGTATCCAGTGCAAACAGCAG -3'
(R):5'- ATGTCAGCTTCAGGAGATGGGACC -3'
Sequencing Primer
(F):5'- GGCTATATCGCCTAGTATCTCCAC -3'
(R):5'- CCAAATCCAAAGGCAAGGTAAG -3'
|
Posted On |
2014-05-14 |