Incidental Mutation 'R6053:Plin4'
ID |
484276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plin4
|
Ensembl Gene |
ENSMUSG00000002831 |
Gene Name |
perilipin 4 |
Synonyms |
S3-12 |
MMRRC Submission |
044221-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R6053 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56415618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 73
(D73E)
|
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: D73E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000002908 Gene: ENSMUSG00000002831 AA Change: D73E
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: D73E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139859 Gene: ENSMUSG00000002831 AA Change: D73E
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,964,666 (GRCm39) |
Y2158H |
probably damaging |
Het |
Acap1 |
T |
G |
11: 69,777,896 (GRCm39) |
|
probably null |
Het |
Adamts4 |
T |
A |
1: 171,080,284 (GRCm39) |
I279N |
possibly damaging |
Het |
Akap3 |
A |
G |
6: 126,843,496 (GRCm39) |
E705G |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,965,422 (GRCm39) |
T477A |
probably benign |
Het |
Arap3 |
C |
A |
18: 38,123,824 (GRCm39) |
L398F |
probably damaging |
Het |
Catsperg1 |
A |
T |
7: 28,910,239 (GRCm39) |
L34* |
probably null |
Het |
Ccdc171 |
T |
G |
4: 83,713,456 (GRCm39) |
L1165R |
probably damaging |
Het |
Ccdc3 |
G |
A |
2: 5,233,838 (GRCm39) |
V221I |
probably benign |
Het |
Cdc42ep4 |
T |
A |
11: 113,619,812 (GRCm39) |
H193L |
probably damaging |
Het |
Clcn1 |
G |
A |
6: 42,277,208 (GRCm39) |
W361* |
probably null |
Het |
Cntn2 |
T |
C |
1: 132,446,090 (GRCm39) |
N832S |
probably benign |
Het |
Col5a1 |
A |
T |
2: 27,904,389 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,217,945 (GRCm39) |
D785G |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,457,260 (GRCm39) |
P1102Q |
possibly damaging |
Het |
Ctc1 |
T |
A |
11: 68,918,727 (GRCm39) |
M550K |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,532,952 (GRCm39) |
R273G |
probably damaging |
Het |
Dnajb7 |
T |
C |
15: 81,291,500 (GRCm39) |
E279G |
probably benign |
Het |
Dop1a |
G |
T |
9: 86,397,347 (GRCm39) |
G882W |
possibly damaging |
Het |
Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
Ect2l |
A |
T |
10: 18,017,592 (GRCm39) |
L629Q |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,533,024 (GRCm39) |
D497G |
possibly damaging |
Het |
Ep400 |
T |
C |
5: 110,903,661 (GRCm39) |
M313V |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,437,323 (GRCm39) |
Y83C |
probably damaging |
Het |
Ercc3 |
T |
G |
18: 32,379,807 (GRCm39) |
V338G |
probably damaging |
Het |
Fkbp5 |
T |
C |
17: 28,647,440 (GRCm39) |
I132V |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,638,449 (GRCm39) |
Y1846N |
probably damaging |
Het |
Foxg1 |
T |
C |
12: 49,432,161 (GRCm39) |
L298P |
possibly damaging |
Het |
Foxo3 |
G |
A |
10: 42,073,210 (GRCm39) |
P436S |
probably benign |
Het |
Gbx2 |
T |
C |
1: 89,858,159 (GRCm39) |
T107A |
probably benign |
Het |
Gli1 |
G |
T |
10: 127,170,184 (GRCm39) |
H324N |
probably damaging |
Het |
Gnas |
T |
A |
2: 174,141,645 (GRCm39) |
S605T |
possibly damaging |
Het |
Ica1 |
C |
T |
6: 8,630,783 (GRCm39) |
A431T |
probably benign |
Het |
Il10ra |
C |
T |
9: 45,167,601 (GRCm39) |
D319N |
probably damaging |
Het |
Jmjd4 |
T |
A |
11: 59,344,870 (GRCm39) |
H274Q |
probably damaging |
Het |
Krt28 |
C |
A |
11: 99,262,027 (GRCm39) |
L294F |
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,802,122 (GRCm39) |
T766K |
probably damaging |
Het |
Man2b2 |
C |
A |
5: 36,970,382 (GRCm39) |
M841I |
probably benign |
Het |
Mmp14 |
T |
A |
14: 54,673,347 (GRCm39) |
M85K |
probably benign |
Het |
Mmp1b |
T |
A |
9: 7,385,031 (GRCm39) |
D206V |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,418,445 (GRCm39) |
F3797S |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,842,697 (GRCm39) |
D561G |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,709,002 (GRCm39) |
H471Q |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,300,251 (GRCm39) |
E873G |
probably damaging |
Het |
Ngfr |
G |
A |
11: 95,461,832 (GRCm39) |
H361Y |
possibly damaging |
Het |
Nnt |
T |
C |
13: 119,494,045 (GRCm39) |
T679A |
possibly damaging |
Het |
Notch1 |
A |
T |
2: 26,362,924 (GRCm39) |
N947K |
probably benign |
Het |
Nrg4 |
A |
T |
9: 55,143,774 (GRCm39) |
V94D |
probably benign |
Het |
Nsd1 |
G |
T |
13: 55,441,422 (GRCm39) |
C1631F |
probably damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,435 (GRCm39) |
T827A |
probably benign |
Het |
Or2t47 |
T |
A |
11: 58,442,892 (GRCm39) |
M58L |
possibly damaging |
Het |
Or4c114 |
T |
C |
2: 88,904,898 (GRCm39) |
D179G |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,351 (GRCm39) |
Y250N |
probably damaging |
Het |
Or6p1 |
C |
A |
1: 174,258,135 (GRCm39) |
S47* |
probably null |
Het |
Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
Orai3 |
C |
T |
7: 127,373,050 (GRCm39) |
P184S |
probably benign |
Het |
Paqr3 |
A |
T |
5: 97,259,137 (GRCm39) |
S56T |
probably benign |
Het |
Pard6b |
C |
T |
2: 167,940,973 (GRCm39) |
T320M |
possibly damaging |
Het |
Pgs1 |
T |
C |
11: 117,892,535 (GRCm39) |
S166P |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,478,121 (GRCm39) |
T114A |
probably benign |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
Rbak |
A |
C |
5: 143,160,437 (GRCm39) |
Y205* |
probably null |
Het |
Rgs12 |
T |
C |
5: 35,123,296 (GRCm39) |
F360L |
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,100,153 (GRCm39) |
D187E |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,072,871 (GRCm39) |
Q66* |
probably null |
Het |
Sh2d5 |
T |
A |
4: 137,982,873 (GRCm39) |
M85K |
probably damaging |
Het |
Sos1 |
A |
G |
17: 80,722,463 (GRCm39) |
V861A |
possibly damaging |
Het |
Stk11ip |
T |
A |
1: 75,510,899 (GRCm39) |
|
probably null |
Het |
Tmem26 |
G |
A |
10: 68,584,314 (GRCm39) |
E127K |
probably benign |
Het |
Tmem41a |
T |
G |
16: 21,753,739 (GRCm39) |
T211P |
possibly damaging |
Het |
Tmem69 |
T |
A |
4: 116,410,581 (GRCm39) |
M130L |
possibly damaging |
Het |
Trak2 |
C |
A |
1: 58,943,228 (GRCm39) |
R726L |
possibly damaging |
Het |
Vmn1r231 |
A |
G |
17: 21,110,081 (GRCm39) |
I278T |
probably damaging |
Het |
Vwf |
G |
A |
6: 125,577,628 (GRCm39) |
V490I |
probably benign |
Het |
Wdr33 |
C |
T |
18: 32,011,116 (GRCm39) |
T255I |
possibly damaging |
Het |
Ylpm1 |
G |
T |
12: 85,043,277 (GRCm39) |
W5L |
possibly damaging |
Het |
Zfp169 |
A |
T |
13: 48,652,334 (GRCm39) |
W28R |
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 |
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 |
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'- CAGAGCCCATAGGATTGCTGAAAG -3'
(R):5'- AGAATGTCCTCTCGCAGCTG -3'
Sequencing Primer
(F):5'- GAAAGGTTGTGCCCATTTCCCAG -3'
(R):5'- TGCGTCACATGGGCAAG -3'
|
Posted On |
2017-07-14 |