Incidental Mutation 'R3932:Plin4'
| ID |
308530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
040919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R3932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56413704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 307
(I307T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000019808]
[ENSMUST00000113072]
[ENSMUST00000190703]
|
| AlphaFold |
O88492 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002908
AA Change: I307T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: I307T
| 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 |
probably benign
Transcript: ENSMUST00000190703
AA Change: I307T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: I307T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arl1 |
C |
T |
10: 88,569,398 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,476,852 (GRCm39) |
M1189T |
possibly damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| Cdc34b |
G |
A |
11: 94,633,441 (GRCm39) |
V214M |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,665,619 (GRCm39) |
T2985A |
probably benign |
Het |
| Clcc1 |
T |
C |
3: 108,580,682 (GRCm39) |
M332T |
probably damaging |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ctdnep1 |
A |
G |
11: 69,880,400 (GRCm39) |
|
probably benign |
Het |
| Edar |
C |
T |
10: 58,446,164 (GRCm39) |
C221Y |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,322,280 (GRCm39) |
Q1295L |
probably benign |
Het |
| Fam184a |
C |
T |
10: 53,575,397 (GRCm39) |
A71T |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,759,983 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,542,071 (GRCm39) |
W247R |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,725,893 (GRCm39) |
H553R |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
| H2-Q6 |
C |
T |
17: 35,644,542 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Med10 |
A |
G |
13: 69,958,101 (GRCm39) |
N18D |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,124,165 (GRCm39) |
H368Q |
possibly damaging |
Het |
| Morn5 |
C |
A |
2: 35,943,035 (GRCm39) |
T45N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,195,515 (GRCm39) |
T432A |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,529,896 (GRCm39) |
E2148D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,595 (GRCm39) |
T236A |
possibly damaging |
Het |
| Odc1 |
T |
A |
12: 17,598,801 (GRCm39) |
F227Y |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,994 (GRCm39) |
M285T |
possibly damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,968,989 (GRCm39) |
I110V |
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,554,545 (GRCm39) |
E212K |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,384 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,166,639 (GRCm39) |
|
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,342 (GRCm39) |
D961G |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
T |
A |
11: 78,289,226 (GRCm39) |
Y495F |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,845,458 (GRCm39) |
D67V |
probably damaging |
Het |
| Tmem94 |
T |
C |
11: 115,680,080 (GRCm39) |
M30T |
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,662,417 (GRCm39) |
T86A |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,988,617 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,336 (GRCm39) |
M783V |
probably damaging |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
| Zfp94 |
T |
G |
7: 24,003,112 (GRCm39) |
D110A |
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 |
|
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'- ATTCATGGCCCCAGTGAGTC -3'
(R):5'- GAACGTGGCTAAAGGTGTTGTC -3'
Sequencing Primer
(F):5'- CCAGTGAGTCCTGTGGTTACC -3'
(R):5'- GCTAAAGGTGTTGTCCAGGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation