Incidental Mutation 'R7505:Plin4'
| ID |
581763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
045578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R7505 (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 A
at 56416357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 49
(Q49L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000019808]
[ENSMUST00000113072]
[ENSMUST00000190703]
|
| AlphaFold |
O88492 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002908
AA Change: Q49L
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: Q49L
| 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 |
possibly damaging
Transcript: ENSMUST00000190703
AA Change: Q49L
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: Q49L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
A |
15: 91,033,260 (GRCm39) |
N719Y |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,687,347 (GRCm39) |
I1058T |
probably benign |
Het |
| Alb |
T |
A |
5: 90,617,368 (GRCm39) |
Y356N |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,225,924 (GRCm39) |
N971D |
probably damaging |
Het |
| Atp6v1c2 |
A |
G |
12: 17,347,724 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
A |
T |
1: 5,194,561 (GRCm39) |
I247L |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,013,187 (GRCm39) |
R593* |
probably null |
Het |
| Cacna2d3 |
C |
T |
14: 28,767,501 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,575,231 (GRCm39) |
G2D |
probably benign |
Het |
| Cebpe |
G |
T |
14: 54,948,113 (GRCm39) |
N243K |
probably damaging |
Het |
| Celf2 |
A |
T |
2: 6,629,511 (GRCm39) |
M136K |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,127 (GRCm39) |
I778V |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,671,248 (GRCm39) |
C1592* |
probably null |
Het |
| Cpne2 |
A |
T |
8: 95,275,094 (GRCm39) |
N34I |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,219,240 (GRCm39) |
N860S |
probably benign |
Het |
| Disp2 |
T |
G |
2: 118,621,569 (GRCm39) |
L767R |
probably damaging |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,270 (GRCm39) |
N96K |
probably benign |
Het |
| Evpl |
A |
G |
11: 116,117,813 (GRCm39) |
|
probably null |
Het |
| F7 |
A |
T |
8: 13,078,745 (GRCm39) |
N59Y |
possibly damaging |
Het |
| Fam98a |
A |
T |
17: 75,845,233 (GRCm39) |
H504Q |
unknown |
Het |
| Fbxo4 |
G |
A |
15: 4,000,903 (GRCm39) |
R270C |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,789,099 (GRCm39) |
V555A |
probably damaging |
Het |
| Fgf4 |
T |
C |
7: 144,415,498 (GRCm39) |
V86A |
possibly damaging |
Het |
| Fpgt |
G |
T |
3: 154,792,413 (GRCm39) |
A538D |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,029,162 (GRCm39) |
T181A |
probably benign |
Het |
| Gask1a |
G |
C |
9: 121,805,483 (GRCm39) |
G425R |
probably benign |
Het |
| Gbx2 |
A |
G |
1: 89,856,455 (GRCm39) |
S312P |
probably benign |
Het |
| Gm29735 |
C |
T |
7: 141,710,327 (GRCm39) |
C175Y |
unknown |
Het |
| Gm7995 |
A |
G |
14: 42,132,314 (GRCm39) |
T49A |
|
Het |
| Hnrnpk |
A |
G |
13: 58,547,783 (GRCm39) |
M27T |
probably benign |
Het |
| Idh3b |
A |
G |
2: 130,126,147 (GRCm39) |
S20P |
probably benign |
Het |
| Idh3b |
G |
C |
2: 130,126,153 (GRCm39) |
R18G |
probably benign |
Het |
| Ighg2b |
T |
A |
12: 113,268,600 (GRCm39) |
T354S |
|
Het |
| Lrfn2 |
T |
A |
17: 49,403,479 (GRCm39) |
M534K |
probably benign |
Het |
| Mcpt8 |
G |
A |
14: 56,320,548 (GRCm39) |
A127V |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,304,743 (GRCm39) |
N176K |
possibly damaging |
Het |
| Mtr |
G |
T |
13: 12,236,362 (GRCm39) |
D621E |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,106,925 (GRCm39) |
I63N |
probably benign |
Het |
| Nol6 |
T |
C |
4: 41,120,352 (GRCm39) |
D455G |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,098,757 (GRCm39) |
S637T |
probably benign |
Het |
| Ntn4 |
G |
T |
10: 93,543,146 (GRCm39) |
G291W |
probably damaging |
Het |
| Or13a28 |
C |
A |
7: 140,217,965 (GRCm39) |
T117K |
probably damaging |
Het |
| Or4d10 |
T |
A |
19: 12,051,969 (GRCm39) |
E9V |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,528,364 (GRCm39) |
T1865S |
probably benign |
Het |
| Plec |
A |
T |
15: 76,065,394 (GRCm39) |
S1559T |
unknown |
Het |
| Plekhm1 |
C |
T |
11: 103,270,855 (GRCm39) |
|
probably null |
Het |
| Polrmt |
A |
G |
10: 79,573,717 (GRCm39) |
F995L |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,579,010 (GRCm39) |
|
probably null |
Het |
| Pramel16 |
A |
G |
4: 143,676,273 (GRCm39) |
I277T |
possibly damaging |
Het |
| Pramel28 |
C |
T |
4: 143,691,556 (GRCm39) |
C389Y |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,573,077 (GRCm39) |
T375A |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,542,774 (GRCm39) |
M3145K |
probably damaging |
Het |
| S100a11 |
A |
G |
3: 93,433,339 (GRCm39) |
K61R |
probably benign |
Het |
| Sar1a |
A |
G |
10: 61,527,073 (GRCm39) |
T164A |
probably benign |
Het |
| Sec31b |
C |
T |
19: 44,532,146 (GRCm39) |
A25T |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,350 (GRCm39) |
V371A |
probably benign |
Het |
| Speer1g |
T |
A |
5: 11,181,135 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,905,832 (GRCm39) |
L1271* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,115,862 (GRCm39) |
T944A |
possibly damaging |
Het |
| Taf6 |
A |
T |
5: 138,178,207 (GRCm39) |
C431* |
probably null |
Het |
| Tdrd6 |
A |
G |
17: 43,938,570 (GRCm39) |
V826A |
not run |
Het |
| Tent4a |
G |
T |
13: 69,655,047 (GRCm39) |
P476T |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,836,037 (GRCm39) |
V831A |
probably damaging |
Het |
| Tnfrsf8 |
T |
G |
4: 144,995,685 (GRCm39) |
D458A |
probably damaging |
Het |
| Trpv5 |
A |
G |
6: 41,651,590 (GRCm39) |
I196T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,608,898 (GRCm39) |
D17706V |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,223,444 (GRCm39) |
Y276C |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,236,276 (GRCm39) |
I988K |
probably damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,279 (GRCm39) |
R356* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,869,971 (GRCm39) |
H429Q |
probably damaging |
Het |
| Wwc2 |
A |
T |
8: 48,333,185 (GRCm39) |
L277Q |
probably damaging |
Het |
| Zscan12 |
T |
A |
13: 21,552,756 (GRCm39) |
N193K |
possibly 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 |
|
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 |
|
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'- GGCTATATCGCCTAGTATCTCCAC -3'
(R):5'- ATGTCAGCTTCAGGAGATGGG -3'
Sequencing Primer
(F):5'- ATATCGCCTAGTATCTCCACCTCAG -3'
(R):5'- CAGCTTCAGGAGATGGGACCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation