Incidental Mutation 'R6334:Plin4'
| ID |
510731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
044488-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R6334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56410261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1217
(L1217P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000002911]
[ENSMUST00000190703]
[ENSMUST00000226053]
[ENSMUST00000225843]
|
| AlphaFold |
O88492 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002908
AA Change: L1217P
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: L1217P
| 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: L1217P
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: L1217P
| 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: ENSMUST00000225208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225843
|
| Meta Mutation Damage Score |
0.2751 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,770,940 (GRCm39) |
S141T |
probably benign |
Het |
| Afap1l2 |
A |
G |
19: 56,906,408 (GRCm39) |
|
probably null |
Het |
| Aox1 |
C |
T |
1: 58,346,566 (GRCm39) |
Q567* |
probably null |
Het |
| Aqp4 |
T |
A |
18: 15,526,648 (GRCm39) |
M278L |
probably benign |
Het |
| Atp23 |
A |
C |
10: 126,723,538 (GRCm39) |
L188R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,905,782 (GRCm39) |
G215D |
probably benign |
Het |
| Cavin4 |
T |
C |
4: 48,663,824 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
| Cfap46 |
T |
C |
7: 139,260,747 (GRCm39) |
E117G |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,701,662 (GRCm39) |
|
probably null |
Het |
| Chek1 |
A |
G |
9: 36,625,788 (GRCm39) |
S286P |
possibly damaging |
Het |
| Cntn4 |
G |
A |
6: 106,321,747 (GRCm39) |
V35I |
probably benign |
Het |
| Cntn4 |
C |
A |
6: 106,483,153 (GRCm39) |
P236Q |
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,753 (GRCm39) |
G84V |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,427,989 (GRCm39) |
H205L |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,453,305 (GRCm39) |
V845I |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,216,292 (GRCm39) |
K7E |
possibly damaging |
Het |
| Eloa |
G |
A |
4: 135,737,133 (GRCm39) |
P488S |
probably damaging |
Het |
| Evi5 |
G |
A |
5: 107,968,387 (GRCm39) |
R187* |
probably null |
Het |
| Fam53a |
T |
A |
5: 33,758,219 (GRCm39) |
L301F |
probably damaging |
Het |
| Fmnl3 |
T |
C |
15: 99,235,534 (GRCm39) |
K63E |
probably damaging |
Het |
| Gast |
C |
A |
11: 100,227,438 (GRCm39) |
Q44K |
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,257 (GRCm39) |
V7E |
probably benign |
Het |
| Gtf3c5 |
G |
A |
2: 28,460,474 (GRCm39) |
T375I |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hspa14 |
A |
T |
2: 3,490,109 (GRCm39) |
|
probably null |
Het |
| Kcna3 |
T |
C |
3: 106,943,740 (GRCm39) |
M1T |
probably null |
Het |
| Kcnj15 |
T |
G |
16: 95,097,095 (GRCm39) |
L239R |
probably damaging |
Het |
| Klhl2 |
G |
T |
8: 65,212,842 (GRCm39) |
D232E |
probably benign |
Het |
| Lamb3 |
A |
T |
1: 193,017,782 (GRCm39) |
I888F |
probably damaging |
Het |
| Lars1 |
C |
A |
18: 42,350,551 (GRCm39) |
M919I |
probably benign |
Het |
| Lfng |
T |
C |
5: 140,598,522 (GRCm39) |
V247A |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,679,045 (GRCm39) |
A16T |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,341,270 (GRCm39) |
I235N |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,290,612 (GRCm39) |
L492Q |
probably damaging |
Het |
| Mcpt8 |
A |
G |
14: 56,322,604 (GRCm39) |
V14A |
possibly damaging |
Het |
| Myo1b |
T |
C |
1: 51,807,810 (GRCm39) |
K823R |
probably null |
Het |
| Nbea |
G |
T |
3: 55,944,570 (GRCm39) |
T598K |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,619,083 (GRCm39) |
H877N |
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,581,322 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,957,596 (GRCm39) |
I309F |
possibly damaging |
Het |
| Phyhd1 |
G |
A |
2: 30,164,736 (GRCm39) |
|
probably null |
Het |
| Pkp2 |
C |
T |
16: 16,043,933 (GRCm39) |
T229I |
probably damaging |
Het |
| Plagl2 |
G |
A |
2: 153,074,611 (GRCm39) |
P97S |
probably benign |
Het |
| Plekhh2 |
C |
A |
17: 84,874,294 (GRCm39) |
N526K |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,527,222 (GRCm39) |
S67P |
possibly damaging |
Het |
| Postn |
A |
G |
3: 54,292,703 (GRCm39) |
K757E |
probably benign |
Het |
| Prpf39 |
T |
A |
12: 65,089,587 (GRCm39) |
|
probably null |
Het |
| Ptprg |
C |
T |
14: 12,166,832 (GRCm38) |
T745I |
probably damaging |
Het |
| Pxylp1 |
C |
G |
9: 96,707,307 (GRCm39) |
A292P |
probably damaging |
Het |
| Rpl35 |
G |
T |
2: 38,891,754 (GRCm39) |
D82E |
possibly damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,149,519 (GRCm39) |
V782I |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,240,875 (GRCm39) |
M415K |
possibly damaging |
Het |
| Tmem117 |
A |
C |
15: 94,909,324 (GRCm39) |
I246L |
probably benign |
Het |
| Tmem221 |
A |
T |
8: 72,011,428 (GRCm39) |
V9E |
probably damaging |
Het |
| Trav13-5 |
A |
G |
14: 54,033,399 (GRCm39) |
T103A |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,007 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
G |
T |
17: 19,810,112 (GRCm39) |
M299I |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,014,344 (GRCm39) |
S379T |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,761,440 (GRCm39) |
N639S |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,030,771 (GRCm39) |
|
|
Het |
| Zfp109 |
T |
A |
7: 23,928,308 (GRCm39) |
Y367F |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,685,338 (GRCm39) |
C389Y |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,836,064 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TCTGCATGCAGGTGGCTTAG -3'
(R):5'- TCAGCCCATGACAACTGAGG -3'
Sequencing Primer
(F):5'- CTAGTGACCAGTTGGAGGAATCC -3'
(R):5'- GAACAAGGTGAGTGCCTCTGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation