Incidental Mutation 'R5569:Plin4'
| ID |
435573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
043126-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5569 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56409147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1358
(T1358A)
|
| 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: T1358A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T1358A
| 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: T1358A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T1358A
| 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: ENSMUST00000224655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225731
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,764,143 (GRCm39) |
S929P |
probably damaging |
Het |
| Ackr3 |
A |
G |
1: 90,142,563 (GRCm39) |
T341A |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,760,377 (GRCm39) |
Y431C |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,992,845 (GRCm39) |
V653M |
probably damaging |
Het |
| Anks6 |
T |
C |
4: 47,045,007 (GRCm39) |
K300E |
probably damaging |
Het |
| Ap5z1 |
A |
T |
5: 142,460,206 (GRCm39) |
D495V |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,427,750 (GRCm39) |
Y453* |
probably null |
Het |
| Atpaf2 |
A |
T |
11: 60,307,706 (GRCm39) |
W11R |
probably damaging |
Het |
| Bhmt1b |
A |
C |
18: 87,775,392 (GRCm39) |
Y305S |
probably damaging |
Het |
| Capn1 |
T |
A |
19: 6,063,690 (GRCm39) |
T129S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,939,162 (GRCm39) |
K678N |
possibly damaging |
Het |
| Cdh17 |
A |
G |
4: 11,816,990 (GRCm39) |
I800M |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,724,892 (GRCm39) |
R69Q |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,033,041 (GRCm39) |
Y623H |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,386,975 (GRCm39) |
Y384N |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,342,838 (GRCm39) |
C555S |
possibly damaging |
Het |
| Dlg2 |
A |
G |
7: 91,617,388 (GRCm39) |
T317A |
probably benign |
Het |
| Dsp |
C |
T |
13: 38,376,628 (GRCm39) |
T1471I |
probably benign |
Het |
| Ebf1 |
A |
G |
11: 44,883,228 (GRCm39) |
M489V |
possibly damaging |
Het |
| Enpp3 |
T |
C |
10: 24,654,719 (GRCm39) |
D230G |
probably damaging |
Het |
| Eri3 |
T |
C |
4: 117,506,553 (GRCm39) |
M294T |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,492,873 (GRCm39) |
V3842E |
probably damaging |
Het |
| Fermt1 |
T |
A |
2: 132,757,123 (GRCm39) |
Y569F |
possibly damaging |
Het |
| Fscn1 |
A |
G |
5: 142,946,799 (GRCm39) |
D199G |
probably benign |
Het |
| Glce |
A |
G |
9: 61,977,485 (GRCm39) |
V133A |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,122,220 (GRCm39) |
S520P |
probably benign |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,555 (GRCm39) |
V7A |
probably benign |
Het |
| Ighv6-7 |
C |
A |
12: 114,419,476 (GRCm39) |
A43S |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,568,113 (GRCm39) |
I222V |
possibly damaging |
Het |
| Kmo |
T |
A |
1: 175,482,688 (GRCm39) |
N337K |
probably benign |
Het |
| Mcf2l |
C |
T |
8: 13,055,481 (GRCm39) |
R611W |
probably damaging |
Het |
| Mipep |
A |
T |
14: 61,040,383 (GRCm39) |
H301L |
probably damaging |
Het |
| Mprip |
A |
T |
11: 59,651,789 (GRCm39) |
E1831V |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,759 (GRCm39) |
T56A |
probably benign |
Het |
| Mtmr14 |
G |
A |
6: 113,217,246 (GRCm39) |
V53I |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,372,679 (GRCm39) |
W4056R |
probably damaging |
Het |
| Myl2 |
A |
T |
5: 122,244,783 (GRCm39) |
D151V |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,180,792 (GRCm39) |
D727V |
probably damaging |
Het |
| Or10s1 |
A |
G |
9: 39,985,593 (GRCm39) |
M1V |
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,377,518 (GRCm39) |
I44N |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,690 (GRCm39) |
M1K |
probably null |
Het |
| Or56b1b |
T |
A |
7: 108,164,772 (GRCm39) |
M77L |
probably benign |
Het |
| Or9s18 |
A |
G |
13: 65,300,793 (GRCm39) |
T252A |
possibly damaging |
Het |
| Pabpc1l |
C |
T |
2: 163,885,474 (GRCm39) |
T409I |
probably benign |
Het |
| Pcgf1 |
C |
T |
6: 83,056,686 (GRCm39) |
R81* |
probably null |
Het |
| Pcgf2 |
A |
G |
11: 97,583,193 (GRCm39) |
|
probably null |
Het |
| Phf14 |
T |
A |
6: 11,934,015 (GRCm39) |
N292K |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,013,164 (GRCm39) |
S423P |
probably damaging |
Het |
| Prep |
G |
A |
10: 44,973,533 (GRCm39) |
V214I |
probably benign |
Het |
| Ptger1 |
T |
C |
8: 84,394,961 (GRCm39) |
|
probably null |
Het |
| Pus7 |
C |
T |
5: 23,953,832 (GRCm39) |
G415D |
probably benign |
Het |
| Rbm44 |
C |
T |
1: 91,096,460 (GRCm39) |
P940S |
probably damaging |
Het |
| Ripor1 |
A |
T |
8: 106,344,147 (GRCm39) |
D427V |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,460 (GRCm39) |
I1884T |
probably damaging |
Het |
| Rpl15-ps6 |
T |
C |
15: 52,341,624 (GRCm39) |
|
noncoding transcript |
Het |
| Serinc2 |
T |
C |
4: 130,172,272 (GRCm39) |
R7G |
probably benign |
Het |
| Serpina6 |
A |
C |
12: 103,620,719 (GRCm39) |
F10C |
possibly damaging |
Het |
| Skint5 |
T |
A |
4: 113,545,903 (GRCm39) |
|
probably null |
Het |
| Slc66a3 |
T |
A |
12: 17,045,629 (GRCm39) |
I114F |
possibly damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,914,081 (GRCm39) |
I544F |
possibly damaging |
Het |
| Spdye4b |
T |
C |
5: 143,188,176 (GRCm39) |
M223T |
probably benign |
Het |
| Tbc1d17 |
A |
T |
7: 44,497,755 (GRCm39) |
V39D |
probably damaging |
Het |
| Thbs3 |
T |
A |
3: 89,126,770 (GRCm39) |
Y295N |
probably damaging |
Het |
| Themis |
G |
A |
10: 28,657,887 (GRCm39) |
E152K |
possibly damaging |
Het |
| Tmem131 |
A |
T |
1: 36,838,419 (GRCm39) |
I1502N |
probably benign |
Het |
| Tmem43 |
T |
A |
6: 91,454,336 (GRCm39) |
M41K |
probably benign |
Het |
| Tmprss6 |
A |
C |
15: 78,324,503 (GRCm39) |
W771G |
probably damaging |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,256 (GRCm39) |
T140A |
probably benign |
Het |
| Uchl1 |
A |
G |
5: 66,844,216 (GRCm39) |
E206G |
probably damaging |
Het |
| Vash2 |
A |
G |
1: 190,692,488 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r192 |
C |
A |
13: 22,371,384 (GRCm39) |
A279S |
possibly damaging |
Het |
| Vmn1r32 |
T |
C |
6: 66,530,156 (GRCm39) |
R207G |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,368,261 (GRCm39) |
M244L |
probably benign |
Het |
| Vwa5b2 |
T |
A |
16: 20,414,089 (GRCm39) |
H236Q |
probably damaging |
Het |
| Zfp652 |
C |
T |
11: 95,640,116 (GRCm39) |
P14S |
probably benign |
Het |
| Zfp668 |
G |
A |
7: 127,466,995 (GRCm39) |
R194* |
probably null |
Het |
| Zgrf1 |
G |
T |
3: 127,354,674 (GRCm39) |
V98L |
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 |
|
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 |
|
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'- TTTGGGGAAGTACAGCCAGC -3'
(R):5'- AGTCAAAGCTCTGTCCCTCC -3'
Sequencing Primer
(F):5'- TGTGGTCACAGCATGGTCC -3'
(R):5'- TCTGCAGATGCGGGCTTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation