Incidental Mutation 'R7699:Plin4'
| ID |
647910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin4
|
| Ensembl Gene |
ENSMUSG00000002831 |
| Gene Name |
perilipin 4 |
| Synonyms |
S3-12 |
| MMRRC Submission |
045760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R7699 (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 C
at 56410828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1068
(T1068A)
|
| 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: T1068A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T1068A
| 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: T1068A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T1068A
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (74/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,070,792 (GRCm39) |
P638T |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,319,674 (GRCm39) |
I1404N |
probably damaging |
Het |
| Cdc42se1 |
A |
G |
3: 95,139,908 (GRCm39) |
N35D |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,376,231 (GRCm39) |
S1447G |
probably benign |
Het |
| Chd6 |
T |
A |
2: 160,867,863 (GRCm39) |
H436L |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,217,326 (GRCm39) |
V605A |
probably benign |
Het |
| Col22a1 |
T |
A |
15: 71,845,700 (GRCm39) |
D354V |
probably damaging |
Het |
| Col25a1 |
T |
A |
3: 130,316,128 (GRCm39) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,514,734 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cux1 |
A |
T |
5: 136,514,593 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
T |
A |
4: 51,229,335 (GRCm39) |
S226T |
unknown |
Het |
| Cyp4b1 |
T |
C |
4: 115,499,162 (GRCm39) |
D68G |
probably benign |
Het |
| Dicer1 |
A |
C |
12: 104,671,429 (GRCm39) |
L947R |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,359,590 (GRCm39) |
S89P |
probably damaging |
Het |
| Dpf1 |
A |
G |
7: 29,011,032 (GRCm39) |
K144E |
possibly damaging |
Het |
| Emc1 |
T |
A |
4: 139,082,181 (GRCm39) |
H94Q |
probably benign |
Het |
| Ep300 |
C |
T |
15: 81,470,594 (GRCm39) |
|
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,796,440 (GRCm39) |
I383T |
|
Het |
| Epo |
T |
A |
5: 137,483,438 (GRCm39) |
E5D |
probably benign |
Het |
| Esp15 |
G |
A |
17: 39,955,624 (GRCm39) |
V64I |
possibly damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,871,504 (GRCm39) |
V577E |
probably damaging |
Het |
| Fhl4 |
A |
T |
10: 84,934,113 (GRCm39) |
C223S |
probably damaging |
Het |
| Fhl4 |
A |
T |
10: 84,934,379 (GRCm39) |
I134N |
probably benign |
Het |
| Frmpd2 |
G |
T |
14: 33,264,895 (GRCm39) |
M891I |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,257 (GRCm39) |
I194V |
probably benign |
Het |
| Glt8d2 |
A |
C |
10: 82,498,122 (GRCm39) |
|
probably null |
Het |
| Gm12886 |
G |
C |
4: 121,273,876 (GRCm39) |
H113Q |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 24,120,494 (GRCm39) |
S345P |
probably damaging |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,646 (GRCm39) |
Y71* |
probably null |
Het |
| Il18bp |
A |
G |
7: 101,666,029 (GRCm39) |
W50R |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,054,195 (GRCm39) |
I33K |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,822,654 (GRCm39) |
A2833T |
probably damaging |
Het |
| Manea |
T |
G |
4: 26,340,758 (GRCm39) |
N68T |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,130,201 (GRCm39) |
L339P |
probably damaging |
Het |
| Mblac1 |
A |
C |
5: 138,192,919 (GRCm39) |
D87A |
probably damaging |
Het |
| Mmp24 |
C |
T |
2: 155,640,096 (GRCm39) |
T142I |
probably damaging |
Het |
| Mpp2 |
T |
A |
11: 101,950,261 (GRCm39) |
H531L |
probably damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,249,521 (GRCm39) |
I339F |
unknown |
Het |
| Naip2 |
G |
A |
13: 100,296,877 (GRCm39) |
T1053I |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,371,248 (GRCm39) |
|
probably null |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,529 (GRCm39) |
Y282C |
possibly damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,841 (GRCm39) |
T117A |
probably benign |
Het |
| Otud7b |
T |
C |
3: 96,063,280 (GRCm39) |
F840L |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,373 (GRCm39) |
Y216C |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,915,142 (GRCm39) |
I133F |
|
Het |
| Plaur |
A |
G |
7: 24,173,692 (GRCm39) |
N221S |
possibly damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,936,755 (GRCm39) |
D1659G |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,391,022 (GRCm39) |
M1357K |
probably benign |
Het |
| Prr36 |
G |
T |
8: 4,263,989 (GRCm39) |
T559N |
unknown |
Het |
| Prss46 |
A |
G |
9: 110,678,622 (GRCm39) |
M2V |
probably benign |
Het |
| Rbpms |
T |
A |
8: 34,354,391 (GRCm39) |
E51D |
probably damaging |
Het |
| Rere |
C |
T |
4: 150,701,555 (GRCm39) |
R328W |
|
Het |
| Retnla |
T |
A |
16: 48,663,176 (GRCm39) |
N26K |
probably benign |
Het |
| Rubcnl |
G |
A |
14: 75,269,404 (GRCm39) |
V21I |
probably benign |
Het |
| Safb |
T |
A |
17: 56,908,504 (GRCm39) |
S598R |
unknown |
Het |
| Sertad4 |
A |
G |
1: 192,529,175 (GRCm39) |
S214P |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,017,938 (GRCm39) |
Q786* |
probably null |
Het |
| Slc8a3 |
A |
C |
12: 81,361,247 (GRCm39) |
L524W |
probably damaging |
Het |
| Sp3 |
T |
C |
2: 72,801,573 (GRCm39) |
T191A |
probably benign |
Het |
| Sp9 |
T |
C |
2: 73,103,724 (GRCm39) |
S93P |
probably damaging |
Het |
| Tbrg1 |
A |
C |
9: 37,560,771 (GRCm39) |
H368Q |
probably benign |
Het |
| Tinagl1 |
T |
G |
4: 130,061,832 (GRCm39) |
Q198H |
probably benign |
Het |
| Usp19 |
C |
T |
9: 108,373,371 (GRCm39) |
R648* |
probably null |
Het |
| Vmn2r124 |
A |
G |
17: 18,293,985 (GRCm39) |
M691V |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,536 (GRCm39) |
M682L |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,811,975 (GRCm39) |
H3344L |
|
Het |
| Vwa3a |
G |
A |
7: 120,351,841 (GRCm39) |
G35E |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,754 (GRCm39) |
S2935G |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
C |
A |
17: 22,594,646 (GRCm39) |
Y377* |
probably null |
Het |
| Zfp952 |
A |
G |
17: 33,220,983 (GRCm39) |
K67R |
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 |
|
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 |
|
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'- TGCCCCAAGCCATATTTGTC -3'
(R):5'- TGGATACTTCGAACGCAGCAC -3'
Sequencing Primer
(F):5'- AGAAGCTGCTTGTCTCACAG -3'
(R):5'- GCACTCACAGGCACAATGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation