Incidental Mutation 'PIT4519001:Plin4'
| ID |
555145 |
| 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: 0.099)
|
| Stock # |
PIT4519001 (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 56410828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 1068
(T1068P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000002911]
[ENSMUST00000190703]
[ENSMUST00000225843]
[ENSMUST00000226053]
|
| AlphaFold |
O88492 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002908
AA Change: T1068P
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T1068P
| 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: T1068P
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T1068P
| 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 |
probably benign
Transcript: ENSMUST00000225843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226053
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 90.9%
- 10x: 84.7%
- 20x: 70.8%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,217,440 (GRCm39) |
M803K |
probably benign |
Het |
| 4930590J08Rik |
C |
A |
6: 91,894,038 (GRCm39) |
N218K |
probably damaging |
Het |
| Abcc2 |
G |
A |
19: 43,807,836 (GRCm39) |
V826M |
possibly damaging |
Het |
| Abcg2 |
T |
C |
6: 58,651,792 (GRCm39) |
S395P |
probably damaging |
Het |
| Adam1b |
C |
T |
5: 121,640,010 (GRCm39) |
G345D |
probably damaging |
Het |
| Alx4 |
T |
A |
2: 93,505,773 (GRCm39) |
C292S |
probably benign |
Het |
| Amd2 |
C |
A |
10: 35,586,627 (GRCm39) |
C310F |
possibly damaging |
Het |
| BC051665 |
A |
T |
13: 60,931,989 (GRCm39) |
S137T |
possibly damaging |
Het |
| Bmp1 |
A |
G |
14: 70,727,469 (GRCm39) |
F705L |
possibly damaging |
Het |
| Coil |
C |
T |
11: 88,863,552 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
G |
A |
9: 105,609,462 (GRCm39) |
P1609S |
probably benign |
Het |
| Cpt1b |
A |
T |
15: 89,303,066 (GRCm39) |
F633I |
probably damaging |
Het |
| Dcun1d2 |
A |
T |
8: 13,311,406 (GRCm39) |
D194E |
probably benign |
Het |
| Defb4 |
A |
G |
8: 19,248,752 (GRCm39) |
R2G |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,162,897 (GRCm39) |
V506A |
probably benign |
Het |
| Dop1b |
A |
G |
16: 93,558,942 (GRCm39) |
S563G |
probably benign |
Het |
| Dpp7 |
C |
A |
2: 25,242,460 (GRCm39) |
G498W |
probably damaging |
Het |
| Fam210a |
A |
T |
18: 68,409,020 (GRCm39) |
S97T |
possibly damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,520,501 (GRCm39) |
D767V |
probably damaging |
Het |
| Fgg |
A |
T |
3: 82,920,246 (GRCm39) |
N342Y |
probably damaging |
Het |
| Gimap6 |
T |
G |
6: 48,684,995 (GRCm39) |
R30S |
probably benign |
Het |
| Gm10840 |
T |
C |
11: 106,051,959 (GRCm39) |
V95A |
unknown |
Het |
| Herc3 |
T |
A |
6: 58,853,796 (GRCm39) |
I614N |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,097,556 (GRCm39) |
S1233R |
possibly damaging |
Het |
| Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,866,344 (GRCm39) |
K1078N |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,570,783 (GRCm39) |
E838V |
probably damaging |
Het |
| Mmp20 |
A |
G |
9: 7,628,302 (GRCm39) |
K17E |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,608,957 (GRCm39) |
R1538W |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,005,424 (GRCm39) |
T296I |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,784,171 (GRCm39) |
S1054G |
probably benign |
Het |
| Or10ac1 |
T |
C |
6: 42,515,534 (GRCm39) |
T141A |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,578 (GRCm39) |
C138R |
probably damaging |
Het |
| Or5b109 |
A |
C |
19: 13,212,216 (GRCm39) |
I201L |
probably benign |
Het |
| Or6f1 |
T |
C |
7: 85,970,941 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pipox |
C |
A |
11: 77,774,001 (GRCm39) |
W205L |
probably damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,414,149 (GRCm39) |
S209P |
unknown |
Het |
| Ptpdc1 |
T |
C |
13: 48,736,632 (GRCm39) |
T713A |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,701,716 (GRCm39) |
Y246C |
possibly damaging |
Het |
| Rnf19b |
C |
T |
4: 128,969,446 (GRCm39) |
A354V |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,126 (GRCm39) |
T346A |
probably benign |
Het |
| Rsrc2 |
T |
C |
5: 123,883,135 (GRCm39) |
T16A |
unknown |
Het |
| Scrn3 |
T |
C |
2: 73,148,768 (GRCm39) |
V113A |
possibly damaging |
Het |
| Scrn3 |
T |
A |
2: 73,161,347 (GRCm39) |
I311K |
possibly damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,506,148 (GRCm39) |
|
probably null |
Het |
| Sin3a |
A |
G |
9: 57,002,740 (GRCm39) |
I211V |
possibly damaging |
Het |
| Strn3 |
T |
C |
12: 51,680,491 (GRCm39) |
T370A |
probably benign |
Het |
| Sulf1 |
T |
G |
1: 12,918,395 (GRCm39) |
N786K |
probably damaging |
Het |
| Taf1b |
T |
A |
12: 24,597,118 (GRCm39) |
Y352* |
probably null |
Het |
| Tas2r120 |
T |
A |
6: 132,634,297 (GRCm39) |
N126K |
probably benign |
Het |
| Tjap1 |
C |
A |
17: 46,572,432 (GRCm39) |
R68L |
probably benign |
Het |
| Tnfsf12 |
C |
T |
11: 69,586,230 (GRCm39) |
R66Q |
probably benign |
Het |
| Traj45 |
A |
G |
14: 54,410,303 (GRCm39) |
D6G |
|
Het |
| Trappc9 |
T |
C |
15: 72,824,943 (GRCm39) |
T541A |
probably benign |
Het |
| Ttc29 |
A |
C |
8: 79,052,106 (GRCm39) |
E329A |
probably benign |
Het |
| Vmn1r117 |
T |
G |
7: 20,617,160 (GRCm39) |
D296A |
possibly damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,765 (GRCm39) |
N182S |
probably benign |
Het |
| Vps53 |
C |
A |
11: 76,007,999 (GRCm39) |
R287L |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,641,946 (GRCm39) |
E891K |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,079,783 (GRCm39) |
N334S |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,687 (GRCm39) |
H282R |
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 |
|
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 |
|
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'- ATGGCTTGTCCTACCCCATG -3'
(R):5'- ACTCTATATGTGCTGGGGCCAC -3'
Sequencing Primer
(F):5'- GTCCTACCCCATGGTTAGTGG -3'
(R):5'- ACAGGAGCCATTACTGTGGTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation