Incidental Mutation 'R5315:Plin5'
| ID |
405813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin5
|
| Ensembl Gene |
ENSMUSG00000011305 |
| Gene Name |
perilipin 5 |
| Synonyms |
Lsdp5, MLDP, 2310076L09Rik |
| MMRRC Submission |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R5315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56418601-56424596 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56421066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 200
(V200L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000019808]
[ENSMUST00000113072]
[ENSMUST00000190703]
|
| AlphaFold |
Q8BVZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002908
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
| 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
AA Change: V200L
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305
AA Change: V200L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
31 |
383 |
1.2e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113072
AA Change: V200L
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305
AA Change: V200L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
27 |
384 |
2.3e-128 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190703
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
| 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: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| 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 PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit excessive fatty acid oxidation, abnormal lipid levels in organs depending on fed or fasted state, increased oxygen consumption and activity in the dark phase, and decreased cardiac muscle contractility in aged mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
| Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
probably benign |
Het |
|
| Other mutations in Plin5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0304:Plin5
|
UTSW |
17 |
56,422,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0981:Plin5
|
UTSW |
17 |
56,421,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Plin5
|
UTSW |
17 |
56,419,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Plin5
|
UTSW |
17 |
56,423,836 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2368:Plin5
|
UTSW |
17 |
56,422,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Plin5
|
UTSW |
17 |
56,423,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5173:Plin5
|
UTSW |
17 |
56,422,548 (GRCm39) |
splice site |
probably null |
|
|
R5836:Plin5
|
UTSW |
17 |
56,422,549 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7129:Plin5
|
UTSW |
17 |
56,422,174 (GRCm39) |
missense |
probably null |
|
|
R7510:Plin5
|
UTSW |
17 |
56,420,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8305:Plin5
|
UTSW |
17 |
56,422,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9190:Plin5
|
UTSW |
17 |
56,419,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Plin5
|
UTSW |
17 |
56,419,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9723:Plin5
|
UTSW |
17 |
56,423,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Plin5
|
UTSW |
17 |
56,423,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATACTCAGTGAATGCCCCG -3'
(R):5'- AACTACACTTCATAGGGTTTGGG -3'
Sequencing Primer
(F):5'- CTGCAACAAAGATGGTTGCTC -3'
(R):5'- CTACACTTCATAGGGTTTGGGGAAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation