Incidental Mutation 'R5484:Plin4'
| ID |
430340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
043045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R5484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56411932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 700
(T700A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000002911]
[ENSMUST00000190703]
[ENSMUST00000225843]
[ENSMUST00000226053]
|
| AlphaFold |
O88492 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002908
AA Change: T700A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T700A
| 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 |
possibly damaging
Transcript: ENSMUST00000190703
AA Change: T700A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T700A
| 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: ENSMUST00000225342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225731
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226053
|
| Meta Mutation Damage Score |
0.1708 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,313,851 (GRCm39) |
H609R |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,074,899 (GRCm39) |
V1388E |
probably damaging |
Het |
| Alx1 |
T |
A |
10: 102,861,177 (GRCm39) |
D117V |
probably damaging |
Het |
| Ascl4 |
T |
C |
10: 85,764,401 (GRCm39) |
L16P |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,420,097 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
G |
A |
11: 58,814,651 (GRCm39) |
V444M |
probably damaging |
Het |
| Camkv |
A |
T |
9: 107,823,345 (GRCm39) |
N124Y |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,542,175 (GRCm39) |
L625P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,612,199 (GRCm39) |
I973V |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,815,483 (GRCm39) |
D1844G |
probably benign |
Het |
| Chd7 |
G |
C |
4: 8,828,258 (GRCm39) |
K1066N |
probably damaging |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,515,827 (GRCm39) |
D409G |
probably benign |
Het |
| Cry1 |
T |
C |
10: 84,982,588 (GRCm39) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,689 (GRCm39) |
|
probably benign |
Het |
| Cyrib |
T |
A |
15: 63,815,056 (GRCm39) |
T139S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,022,531 (GRCm39) |
V1623E |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,069,099 (GRCm39) |
D2477E |
possibly damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dop1a |
C |
G |
9: 86,427,341 (GRCm39) |
R2164G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,368,014 (GRCm39) |
T678A |
possibly damaging |
Het |
| Farsb |
A |
C |
1: 78,452,833 (GRCm39) |
I51S |
probably damaging |
Het |
| Gm10220 |
T |
A |
5: 26,322,930 (GRCm39) |
I161L |
possibly damaging |
Het |
| Gm10782 |
G |
T |
13: 56,510,987 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12830 |
A |
T |
4: 114,702,248 (GRCm39) |
T137S |
unknown |
Het |
| Gopc |
A |
G |
10: 52,234,942 (GRCm39) |
L67P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,551,291 (GRCm39) |
I2655V |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,283,066 (GRCm39) |
Q1981* |
probably null |
Het |
| Ifi209 |
T |
A |
1: 173,468,640 (GRCm39) |
S157T |
probably benign |
Het |
| Ift56 |
T |
G |
6: 38,366,057 (GRCm39) |
C124W |
probably benign |
Het |
| Iqcf1 |
A |
T |
9: 106,379,107 (GRCm39) |
I74F |
probably damaging |
Het |
| Irf3 |
A |
T |
7: 44,649,382 (GRCm39) |
R78W |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,663,022 (GRCm39) |
D722G |
probably benign |
Het |
| Loxl1 |
A |
G |
9: 58,198,065 (GRCm39) |
V597A |
possibly damaging |
Het |
| Marveld1 |
T |
C |
19: 42,136,272 (GRCm39) |
L62P |
probably damaging |
Het |
| Mga |
T |
G |
2: 119,747,107 (GRCm39) |
D419E |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,938,463 (GRCm39) |
K251E |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,644 (GRCm39) |
E935G |
probably damaging |
Het |
| Nat8f2 |
C |
A |
6: 85,844,994 (GRCm39) |
A123S |
possibly damaging |
Het |
| Niban1 |
A |
G |
1: 151,593,837 (GRCm39) |
T841A |
probably benign |
Het |
| Or4d11 |
G |
A |
19: 12,013,192 (GRCm39) |
L305F |
probably benign |
Het |
| Pcdha9 |
T |
A |
18: 37,131,156 (GRCm39) |
V75E |
probably damaging |
Het |
| Pebp4 |
A |
T |
14: 70,200,991 (GRCm39) |
|
probably null |
Het |
| Pitx1 |
A |
G |
13: 55,974,166 (GRCm39) |
S222P |
probably benign |
Het |
| Plekhg3 |
G |
A |
12: 76,625,174 (GRCm39) |
V1339M |
possibly damaging |
Het |
| Plekhs1 |
C |
T |
19: 56,468,260 (GRCm39) |
S276L |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,412 (GRCm39) |
|
probably null |
Het |
| Pms2 |
T |
C |
5: 143,864,943 (GRCm39) |
I675T |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,577,888 (GRCm39) |
L268P |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,248,025 (GRCm39) |
T33A |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,882,346 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,085,941 (GRCm39) |
P1383Q |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,244,569 (GRCm39) |
C758S |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,317,160 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,295,648 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,278,631 (GRCm39) |
Y126H |
probably damaging |
Het |
| Strip2 |
C |
A |
6: 29,917,154 (GRCm39) |
|
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,805,230 (GRCm39) |
T440A |
probably damaging |
Het |
| Tcf7l2 |
C |
A |
19: 55,907,940 (GRCm39) |
|
probably null |
Het |
| Tgfb1 |
A |
C |
7: 25,387,574 (GRCm39) |
D94A |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,797 (GRCm39) |
C968R |
probably damaging |
Het |
| Tmem176b |
T |
A |
6: 48,811,467 (GRCm39) |
M61L |
probably benign |
Het |
| Tmem258 |
A |
G |
19: 10,184,689 (GRCm39) |
|
probably null |
Het |
| Tpr |
T |
C |
1: 150,302,639 (GRCm39) |
L1379S |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,383,123 (GRCm39) |
D157G |
possibly damaging |
Het |
| Wfdc8 |
T |
C |
2: 164,439,649 (GRCm39) |
I244M |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,466,921 (GRCm39) |
S97P |
probably benign |
Het |
| Zfp655 |
T |
C |
5: 145,180,445 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,277 (GRCm39) |
S586P |
probably damaging |
Het |
| Zfp874b |
C |
T |
13: 67,629,373 (GRCm39) |
V52I |
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 |
|
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 |
|
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'- ACATTCAAGGCTCCTGTGAG -3'
(R):5'- GAACGTGGCTAAAGGTGCTG -3'
Sequencing Primer
(F):5'- GTGTCCTTCGTACCAATGAGCAC -3'
(R):5'- GGCTAAAGGTGCTGTCCAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation