Incidental Mutation 'R1953:Plin4'
| ID |
217514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
039967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R1953 (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 A
at 56410849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1061
(I1061F)
|
| 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: I1061F
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: I1061F
| 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: I1061F
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: I1061F
| 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: ENSMUST00000225843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225731
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,268,772 (GRCm39) |
D12E |
probably damaging |
Het |
| Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
| Actr1a |
G |
A |
19: 46,369,387 (GRCm39) |
S209F |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,028,991 (GRCm39) |
N247S |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 52,997,030 (GRCm39) |
L101S |
probably damaging |
Het |
| Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,721,726 (GRCm39) |
S2060P |
probably benign |
Het |
| Atp9b |
G |
A |
18: 80,797,522 (GRCm39) |
T851I |
possibly damaging |
Het |
| Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
| Bpifb9b |
A |
C |
2: 154,153,234 (GRCm39) |
D100A |
probably damaging |
Het |
| Cant1 |
G |
C |
11: 118,299,609 (GRCm39) |
P247A |
probably damaging |
Het |
| Capza3 |
A |
T |
6: 139,988,294 (GRCm39) |
I298L |
possibly damaging |
Het |
| Cdh10 |
T |
C |
15: 18,966,997 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,720,381 (GRCm39) |
V2551A |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,948,551 (GRCm39) |
L287P |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,997,313 (GRCm39) |
T257I |
probably benign |
Het |
| Crispld2 |
G |
A |
8: 120,742,035 (GRCm39) |
V128M |
probably damaging |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,859,332 (GRCm39) |
T2043A |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,581,522 (GRCm39) |
T447I |
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,869,538 (GRCm39) |
T742A |
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,492,894 (GRCm39) |
T499A |
probably benign |
Het |
| Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
| Fgd5 |
C |
A |
6: 92,001,611 (GRCm39) |
H935Q |
probably benign |
Het |
| Fhl4 |
A |
T |
10: 84,934,171 (GRCm39) |
D203E |
probably benign |
Het |
| Gapt |
T |
G |
13: 110,490,340 (GRCm39) |
T108P |
probably damaging |
Het |
| Gpt2 |
A |
G |
8: 86,248,013 (GRCm39) |
T419A |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,681,291 (GRCm39) |
V907A |
probably damaging |
Het |
| Hmbs |
T |
C |
9: 44,248,741 (GRCm39) |
D211G |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,557,860 (GRCm39) |
V170A |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,349,009 (GRCm39) |
T732S |
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,159,022 (GRCm39) |
Y546H |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,832,540 (GRCm39) |
H1670Y |
possibly damaging |
Het |
| Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
| Nlrp10 |
T |
C |
7: 108,524,325 (GRCm39) |
D385G |
probably benign |
Het |
| Nr2e3 |
T |
A |
9: 59,857,079 (GRCm39) |
D30V |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,294 (GRCm39) |
S580P |
probably benign |
Het |
| Or4c108 |
G |
A |
2: 88,804,224 (GRCm39) |
Q4* |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,774,267 (GRCm39) |
L64P |
probably damaging |
Het |
| Or4e2 |
T |
A |
14: 52,688,344 (GRCm39) |
V158E |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,680,038 (GRCm39) |
H952R |
probably damaging |
Het |
| Pnkp |
C |
A |
7: 44,512,026 (GRCm39) |
R517S |
probably benign |
Het |
| Polr2e |
T |
A |
10: 79,874,388 (GRCm39) |
E39D |
probably benign |
Het |
| Pramel18 |
T |
C |
4: 101,767,312 (GRCm39) |
I187T |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,565,575 (GRCm39) |
Y90C |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
| Rere |
G |
A |
4: 150,701,294 (GRCm39) |
E1225K |
probably damaging |
Het |
| Rsl24d1 |
G |
T |
9: 73,021,896 (GRCm39) |
|
probably benign |
Het |
| Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
| Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,776 (GRCm39) |
T72A |
possibly damaging |
Het |
| Snx29 |
G |
A |
16: 11,217,647 (GRCm39) |
W149* |
probably null |
Het |
| Stk31 |
G |
T |
6: 49,423,412 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
G |
5: 87,735,530 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
G |
A |
17: 27,163,661 (GRCm39) |
R41H |
possibly damaging |
Het |
| Tbc1d17 |
T |
A |
7: 44,490,822 (GRCm39) |
|
probably null |
Het |
| Tex55 |
G |
T |
16: 38,648,275 (GRCm39) |
T278K |
possibly damaging |
Het |
| Tie1 |
A |
T |
4: 118,329,987 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,692,083 (GRCm39) |
D848E |
probably benign |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,283,122 (GRCm39) |
I272T |
probably benign |
Het |
| Vwa1 |
C |
T |
4: 155,857,571 (GRCm39) |
V76M |
probably damaging |
Het |
| Xrn1 |
G |
T |
9: 95,906,274 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
G |
T |
7: 6,308,087 (GRCm39) |
V252F |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
probably 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 |
|
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 |
|
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'- CAGGGACTCTGTAGAAGTCAGG -3'
(R):5'- ACAGGAGCCATTACTGTGGTC -3'
Sequencing Primer
(F):5'- AAGTCAGGATGGCTTGTCCTACC -3'
(R):5'- CCATTACTGTGGTCAAAGGGGC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation