Incidental Mutation 'R7302:Plin4'
| ID |
567072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
045406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R7302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56409330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1297
(M1297L)
|
| 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: M1297L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: M1297L
| 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: M1297L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: M1297L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,306 (GRCm39) |
P69S |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,405,694 (GRCm39) |
|
probably benign |
Het |
| Bcl7a |
T |
A |
5: 123,482,757 (GRCm39) |
M22K |
probably benign |
Het |
| C6 |
T |
A |
15: 4,826,432 (GRCm39) |
C672S |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,954,738 (GRCm39) |
R133H |
probably damaging |
Het |
| Ccdc102a |
A |
G |
8: 95,640,066 (GRCm39) |
L76P |
probably damaging |
Het |
| Cfhr4 |
T |
C |
1: 139,667,436 (GRCm39) |
|
probably null |
Het |
| Cotl1 |
T |
G |
8: 120,537,040 (GRCm39) |
I125L |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,504,906 (GRCm39) |
M868K |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,136,852 (GRCm39) |
I1374T |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,386,814 (GRCm39) |
Y646C |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,834,593 (GRCm39) |
K762E |
probably benign |
Het |
| Egln2 |
A |
G |
7: 26,864,310 (GRCm39) |
V205A |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,009 (GRCm39) |
M229L |
probably benign |
Het |
| Fancf |
C |
A |
7: 51,511,452 (GRCm39) |
R184L |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,353,363 (GRCm39) |
E86D |
probably damaging |
Het |
| Fignl2 |
T |
C |
15: 100,951,259 (GRCm39) |
D341G |
unknown |
Het |
| Gm14410 |
A |
T |
2: 176,885,648 (GRCm39) |
H205Q |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,848,666 (GRCm39) |
N181D |
probably benign |
Het |
| Hmbox1 |
T |
C |
14: 65,066,115 (GRCm39) |
Y285C |
probably damaging |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,739 (GRCm39) |
M113V |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,701,985 (GRCm39) |
V139A |
probably benign |
Het |
| Limch1 |
A |
T |
5: 67,116,942 (GRCm39) |
Y119F |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,374,856 (GRCm39) |
R4534Q |
probably benign |
Het |
| Mbd3l2 |
G |
A |
9: 18,355,738 (GRCm39) |
S21N |
probably benign |
Het |
| Mob1b |
A |
G |
5: 88,901,036 (GRCm39) |
N148D |
probably benign |
Het |
| Mylk4 |
A |
T |
13: 32,904,548 (GRCm39) |
D195E |
probably benign |
Het |
| Ndufa7 |
T |
C |
17: 34,048,687 (GRCm39) |
S50P |
probably benign |
Het |
| Nectin4 |
G |
T |
1: 171,214,203 (GRCm39) |
E453* |
probably null |
Het |
| Nell1 |
T |
G |
7: 50,506,017 (GRCm39) |
F741L |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,739,933 (GRCm39) |
H369L |
possibly damaging |
Het |
| Pnp |
G |
A |
14: 51,188,404 (GRCm39) |
V193M |
probably damaging |
Het |
| Ppp1r10 |
T |
G |
17: 36,241,773 (GRCm39) |
S849R |
unknown |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,012 (GRCm39) |
E981G |
unknown |
Het |
| Sbsn |
T |
C |
7: 30,451,309 (GRCm39) |
F108S |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,636,017 (GRCm39) |
M310T |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,055,949 (GRCm39) |
S97P |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,525 (GRCm39) |
V313A |
probably benign |
Het |
| Slc25a10 |
G |
T |
11: 120,382,782 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,806,828 (GRCm39) |
V705E |
possibly damaging |
Het |
| Surf2 |
G |
T |
2: 26,808,894 (GRCm39) |
C116F |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,698 (GRCm39) |
I175T |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,897,875 (GRCm39) |
T841I |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,246 (GRCm39) |
D693G |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,393,973 (GRCm39) |
L64P |
probably damaging |
Het |
| Vmn1r77 |
C |
T |
7: 11,775,983 (GRCm39) |
S253F |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,423 (GRCm39) |
M512T |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,800,036 (GRCm39) |
G89D |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,205 (GRCm39) |
Y825N |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,032,252 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,297,942 (GRCm39) |
F1916I |
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 |
|
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 |
|
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'- TGTCTGCAGCTCACTACCTG -3'
(R):5'- ACAGGACTGAGTGTTCCCAC -3'
Sequencing Primer
(F):5'- GCTCACTACCTGCCTCCGAAG -3'
(R):5'- GTGGTTCTTTTTCCAGACAGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation