Incidental Mutation 'R6264:Plin4'
| ID |
506915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 56411787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 748
(D748A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000002911]
[ENSMUST00000190703]
[ENSMUST00000226053]
[ENSMUST00000225843]
|
| AlphaFold |
O88492 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002908
AA Change: D748A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: D748A
| 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: D748A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: D748A
| 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: ENSMUST00000226053
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225843
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,264,824 (GRCm39) |
Y175H |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,598,114 (GRCm39) |
V1165D |
possibly damaging |
Het |
| Ahsg |
A |
G |
16: 22,717,611 (GRCm39) |
D224G |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,749,861 (GRCm39) |
D842G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,245,413 (GRCm39) |
N186D |
possibly damaging |
Het |
| Aqr |
A |
G |
2: 113,940,445 (GRCm39) |
Y1234H |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,570,464 (GRCm39) |
F7S |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,596,084 (GRCm39) |
Y1222C |
probably damaging |
Het |
| Coro2a |
C |
T |
4: 46,562,912 (GRCm39) |
V81I |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,613,984 (GRCm39) |
V42A |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,049 (GRCm39) |
N326D |
probably damaging |
Het |
| Dedd2 |
A |
G |
7: 24,903,215 (GRCm39) |
L248P |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,341,832 (GRCm39) |
I1375N |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,807,002 (GRCm39) |
N63S |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,502,172 (GRCm39) |
S250P |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,243,656 (GRCm39) |
S667P |
possibly damaging |
Het |
| Hc |
T |
A |
2: 34,896,285 (GRCm39) |
|
probably null |
Het |
| Hoxd4 |
A |
T |
2: 74,557,729 (GRCm39) |
Y36F |
possibly damaging |
Het |
| Ifi207 |
A |
G |
1: 173,555,111 (GRCm39) |
V864A |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,235,928 (GRCm39) |
T1418S |
possibly damaging |
Het |
| Klhl41 |
T |
C |
2: 69,510,176 (GRCm39) |
|
probably null |
Het |
| Lman2l |
T |
C |
1: 36,477,850 (GRCm39) |
N162S |
probably damaging |
Het |
| Lrr1 |
T |
G |
12: 69,215,655 (GRCm39) |
V9G |
probably damaging |
Het |
| Marchf5 |
T |
C |
19: 37,198,140 (GRCm39) |
I127T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,163,423 (GRCm39) |
L1350P |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,636,241 (GRCm39) |
I210N |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,182,836 (GRCm39) |
N825S |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,524,694 (GRCm39) |
T2312A |
probably damaging |
Het |
| Ndrg4 |
G |
T |
8: 96,436,396 (GRCm39) |
R208L |
probably damaging |
Het |
| Nell2 |
G |
A |
15: 95,244,706 (GRCm39) |
P464S |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 90,299,011 (GRCm39) |
Y374N |
probably damaging |
Het |
| Oprd1 |
A |
C |
4: 131,841,365 (GRCm39) |
C198G |
possibly damaging |
Het |
| Pik3ca |
T |
C |
3: 32,494,863 (GRCm39) |
|
probably null |
Het |
| Pramel23 |
T |
G |
4: 143,425,722 (GRCm39) |
T74P |
possibly damaging |
Het |
| Prkg2 |
T |
G |
5: 99,082,223 (GRCm39) |
K52Q |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,442,669 (GRCm39) |
E890D |
probably damaging |
Het |
| Rab27b |
T |
C |
18: 70,122,659 (GRCm39) |
D100G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,790,026 (GRCm39) |
T109A |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,818,819 (GRCm38) |
M17L |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,293 (GRCm39) |
H260R |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,856,636 (GRCm39) |
D109E |
probably damaging |
Het |
| Scd4 |
C |
A |
19: 44,327,398 (GRCm39) |
S158* |
probably null |
Het |
| Scn7a |
T |
A |
2: 66,505,870 (GRCm39) |
E1673V |
possibly damaging |
Het |
| Sit1 |
A |
T |
4: 43,482,651 (GRCm39) |
D169E |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,885,130 (GRCm39) |
Q470K |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,457,900 (GRCm39) |
C392S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,765,310 (GRCm39) |
|
probably benign |
Het |
| Sstr2 |
A |
T |
11: 113,515,932 (GRCm39) |
I284F |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,082,970 (GRCm39) |
V1013M |
probably damaging |
Het |
| Tmem120b |
T |
G |
5: 123,253,763 (GRCm39) |
L232R |
probably damaging |
Het |
| Tmem9b |
C |
A |
7: 109,344,612 (GRCm39) |
V75F |
probably damaging |
Het |
| Trappc3 |
A |
G |
4: 126,167,731 (GRCm39) |
S97G |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,795,829 (GRCm39) |
F73L |
probably damaging |
Het |
| Vmn1r127 |
C |
A |
7: 21,052,930 (GRCm39) |
C286F |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,652 (GRCm39) |
S133P |
probably benign |
Het |
| Vps8 |
C |
T |
16: 21,378,099 (GRCm39) |
Q635* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,324,252 (GRCm39) |
E1185G |
possibly damaging |
Het |
| Zfp354c |
G |
A |
11: 50,706,274 (GRCm39) |
T267I |
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 |
|
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 |
|
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'- ATTTACTGCACCAGTGACCC -3'
(R):5'- GCCTTGAATGTGGCTAAAGG -3'
Sequencing Primer
(F):5'- GTGACCCCAGCATATACATTGTC -3'
(R):5'- GTATAGACACCAGCAAGACTGTGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation