Incidental Mutation 'R1725:Plin4'
| ID |
198114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
039757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R1725 (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 56413473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 384
(L384P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000190703]
|
| AlphaFold |
O88492 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002908
AA Change: L384P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: L384P
| 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 damaging
Transcript: ENSMUST00000190703
AA Change: L384P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: L384P
| 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 |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
T |
16: 88,424,163 (GRCm39) |
F109L |
probably benign |
Het |
| Aacs |
T |
C |
5: 125,559,999 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
C |
A |
7: 45,641,781 (GRCm39) |
D866Y |
possibly damaging |
Het |
| Acox3 |
T |
C |
5: 35,749,516 (GRCm39) |
Y214H |
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,398,764 (GRCm39) |
T404A |
possibly damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,865,381 (GRCm39) |
E154V |
probably damaging |
Het |
| Akap12 |
G |
A |
10: 4,303,942 (GRCm39) |
V251M |
probably damaging |
Het |
| Ambp |
A |
T |
4: 63,062,513 (GRCm39) |
M242K |
possibly damaging |
Het |
| Angptl7 |
T |
G |
4: 148,584,469 (GRCm39) |
Y93S |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,680 (GRCm39) |
|
probably benign |
Het |
| Arv1 |
T |
C |
8: 125,455,191 (GRCm39) |
F135L |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,026,361 (GRCm39) |
T1116I |
probably damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,493,541 (GRCm39) |
E311G |
unknown |
Het |
| Cenpf |
T |
C |
1: 189,412,676 (GRCm39) |
T196A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,030 (GRCm39) |
S527T |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 47,460,203 (GRCm39) |
N3529K |
probably damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,099,892 (GRCm39) |
V116A |
probably damaging |
Het |
| Dhx36 |
T |
G |
3: 62,414,360 (GRCm39) |
M1L |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,203,759 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
G |
A |
4: 136,387,089 (GRCm39) |
Q714* |
probably null |
Het |
| Eprs1 |
T |
A |
1: 185,139,189 (GRCm39) |
L858Q |
probably damaging |
Het |
| Espl1 |
G |
T |
15: 102,221,656 (GRCm39) |
V982L |
probably benign |
Het |
| Eya2 |
A |
G |
2: 165,566,605 (GRCm39) |
T219A |
probably benign |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Fbxl18 |
C |
T |
5: 142,872,458 (GRCm39) |
R259H |
probably damaging |
Het |
| Gcc2 |
G |
A |
10: 58,139,937 (GRCm39) |
R1629H |
possibly damaging |
Het |
| Gje1 |
G |
A |
10: 14,592,168 (GRCm39) |
R205* |
probably null |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
A |
T |
15: 101,600,992 (GRCm39) |
M268K |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,380,937 (GRCm39) |
S85T |
probably benign |
Het |
| Loxl3 |
G |
A |
6: 83,012,574 (GRCm39) |
V38I |
probably benign |
Het |
| Mill2 |
A |
G |
7: 18,573,993 (GRCm39) |
D26G |
probably benign |
Het |
| Muc15 |
T |
C |
2: 110,561,591 (GRCm39) |
L9S |
probably damaging |
Het |
| Nat8f4 |
G |
A |
6: 85,878,080 (GRCm39) |
R148* |
probably null |
Het |
| Nav3 |
A |
T |
10: 109,659,451 (GRCm39) |
V722E |
probably damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,373,519 (GRCm39) |
G10W |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,784,908 (GRCm39) |
P182L |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,265 (GRCm39) |
F208I |
probably benign |
Het |
| Or2t1 |
T |
G |
14: 14,328,977 (GRCm38) |
Y289D |
probably damaging |
Het |
| Or5b120 |
T |
C |
19: 13,479,883 (GRCm39) |
Y59H |
probably damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,241 (GRCm39) |
C313S |
probably benign |
Het |
| Pm20d1 |
T |
C |
1: 131,743,796 (GRCm39) |
I487T |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,443,656 (GRCm39) |
D334E |
probably damaging |
Het |
| Psg28 |
A |
T |
7: 18,161,936 (GRCm39) |
I189N |
possibly damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Rae1 |
A |
G |
2: 172,848,754 (GRCm39) |
I123M |
possibly damaging |
Het |
| Sh3glb2 |
C |
A |
2: 30,240,679 (GRCm39) |
E129* |
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,219 (GRCm39) |
S856P |
probably damaging |
Het |
| Slc19a1 |
T |
A |
10: 76,877,672 (GRCm39) |
M69K |
probably benign |
Het |
| Slc30a8 |
A |
T |
15: 52,197,000 (GRCm39) |
I304F |
possibly damaging |
Het |
| Snx1 |
A |
G |
9: 66,005,611 (GRCm39) |
|
probably null |
Het |
| Spmip5 |
T |
G |
19: 58,781,194 (GRCm39) |
K10T |
probably benign |
Het |
| Stx18 |
G |
A |
5: 38,292,599 (GRCm39) |
V234M |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,923,281 (GRCm39) |
T615A |
probably damaging |
Het |
| Sult3a2 |
T |
A |
10: 33,655,705 (GRCm39) |
K91N |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,650,256 (GRCm39) |
S22P |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,253,940 (GRCm39) |
V362A |
probably damaging |
Het |
| Trim16 |
A |
C |
11: 62,711,331 (GRCm39) |
M1L |
possibly damaging |
Het |
| Trp53bp1 |
C |
T |
2: 121,082,481 (GRCm39) |
V10I |
possibly damaging |
Het |
| Ttc12 |
T |
G |
9: 49,369,415 (GRCm39) |
D235A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,692,727 (GRCm39) |
R452G |
possibly damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,730 (GRCm39) |
H387Q |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,360,733 (GRCm39) |
L20* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,539,263 (GRCm39) |
D1918G |
probably damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,490,072 (GRCm39) |
S46P |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,397 (GRCm39) |
W262R |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,869,830 (GRCm39) |
S1917T |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,528,120 (GRCm39) |
N158D |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,623,245 (GRCm39) |
V1781I |
probably benign |
Het |
| Wrap73 |
T |
C |
4: 154,233,209 (GRCm39) |
Y128H |
possibly damaging |
Het |
| Zfp472 |
A |
G |
17: 33,196,311 (GRCm39) |
K129E |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,504,784 (GRCm39) |
L611Q |
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 |
|
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'- TGCCTTTAGCCACATTCAAGGCCC -3'
(R):5'- TCATAGGCACCAAGGATACGGTGAC -3'
Sequencing Primer
(F):5'- ATTCAAGGCCCCTGTGAGTC -3'
(R):5'- ATACGGTGACCACAGGGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation