Incidental Mutation 'R8875:Plin4'
| ID |
676548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
068687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R8875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56407591-56416803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56411010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1007
(A1007V)
|
| 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: A1007V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: A1007V
| 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: A1007V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: A1007V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
A |
G |
11: 70,126,380 (GRCm39) |
V140A |
|
Het |
| Ablim1 |
G |
T |
19: 57,119,386 (GRCm39) |
H233N |
probably benign |
Het |
| Adra1a |
A |
T |
14: 66,875,214 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,233 (GRCm39) |
D245G |
unknown |
Het |
| Ap4e1 |
T |
C |
2: 126,877,100 (GRCm39) |
I279T |
probably damaging |
Het |
| Bap1 |
T |
G |
14: 30,975,522 (GRCm39) |
F122C |
probably damaging |
Het |
| Cdc5l |
T |
C |
17: 45,703,915 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,151,783 (GRCm39) |
I309N |
probably damaging |
Het |
| Cnpy3 |
T |
C |
17: 47,048,185 (GRCm39) |
I177V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,027,994 (GRCm39) |
K467E |
possibly damaging |
Het |
| D630039A03Rik |
T |
G |
4: 57,910,320 (GRCm39) |
N164T |
probably benign |
Het |
| Dnah7a |
C |
A |
1: 53,682,682 (GRCm39) |
A263S |
probably benign |
Het |
| Eif2s1 |
G |
A |
12: 78,913,461 (GRCm39) |
R54Q |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,703,224 (GRCm39) |
D1600E |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,493,600 (GRCm39) |
F3915L |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,093 (GRCm39) |
S142T |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,406,380 (GRCm39) |
Y1159C |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,820,782 (GRCm39) |
V5505D |
possibly damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,379,514 (GRCm39) |
M296T |
probably damaging |
Het |
| Gm11562 |
A |
T |
11: 99,511,177 (GRCm39) |
S8T |
unknown |
Het |
| Hoxd11 |
A |
G |
2: 74,513,365 (GRCm39) |
D210G |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,469,101 (GRCm39) |
V171A |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,301,353 (GRCm39) |
Y775C |
unknown |
Het |
| Nherf2 |
T |
A |
17: 24,866,703 (GRCm39) |
|
probably null |
Het |
| Nr2f1 |
A |
C |
13: 78,337,970 (GRCm39) |
I382S |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,207,472 (GRCm39) |
|
probably null |
Het |
| Or51l4 |
G |
A |
7: 103,404,462 (GRCm39) |
S110F |
probably damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,670 (GRCm39) |
T81A |
probably benign |
Het |
| Pdcd1 |
C |
T |
1: 93,967,092 (GRCm39) |
D269N |
probably benign |
Het |
| Pira12 |
A |
G |
7: 3,897,256 (GRCm39) |
S527P |
probably damaging |
Het |
| Plbd2 |
A |
G |
5: 120,637,121 (GRCm39) |
Y114H |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,618,391 (GRCm39) |
C715R |
probably damaging |
Het |
| Ptprs |
G |
T |
17: 56,742,946 (GRCm39) |
P399T |
probably damaging |
Het |
| Pum1 |
T |
A |
4: 130,507,186 (GRCm39) |
I1181N |
possibly damaging |
Het |
| Qrich1 |
A |
G |
9: 108,436,502 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
T |
C |
2: 155,938,841 (GRCm39) |
E477G |
probably damaging |
Het |
| Rpl7 |
T |
C |
1: 16,173,753 (GRCm39) |
K57R |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,123,476 (GRCm39) |
A3178V |
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,832,728 (GRCm39) |
C99Y |
probably damaging |
Het |
| Tas1r1 |
T |
A |
4: 152,113,047 (GRCm39) |
T669S |
probably benign |
Het |
| Tle5 |
A |
T |
10: 81,400,534 (GRCm39) |
I73F |
probably benign |
Het |
| Tm2d2 |
T |
C |
8: 25,507,443 (GRCm39) |
L20P |
possibly damaging |
Het |
| Tmem158 |
G |
T |
9: 123,089,132 (GRCm39) |
A160E |
possibly damaging |
Het |
| Tpst2 |
T |
A |
5: 112,457,714 (GRCm39) |
Y347* |
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,887,493 (GRCm39) |
I876T |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,751,199 (GRCm39) |
F1364L |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,776,194 (GRCm39) |
S1713T |
possibly damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,336,549 (GRCm39) |
S69P |
possibly damaging |
Het |
| Zfp982 |
C |
A |
4: 147,595,320 (GRCm39) |
N47K |
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 |
|
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 |
|
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'- TACCTGAATGAGCCAGCACAG -3'
(R):5'- CCACCAAGTCTGTGCTCTTAGG -3'
Sequencing Primer
(F):5'- CTGAATGAGCCAGCACAGAAGAC -3'
(R):5'- TGTGCTCTTAGGTACCAAGGACAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation