Incidental Mutation 'IGL02002:Ppard'
| ID |
183120 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppard
|
| Ensembl Gene |
ENSMUSG00000002250 |
| Gene Name |
peroxisome proliferator activator receptor delta |
| Synonyms |
PPAR-delta, Pparb/d, NUC1, Pparb, Peroxisome proliferator-activated receptor beta, PPARdelta/beta, Nr1c2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.933)
|
| Stock # |
IGL02002
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28451715-28520446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 28517877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 315
(F315C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002320]
[ENSMUST00000169040]
|
| AlphaFold |
P35396 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002320
AA Change: F315C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: F315C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
ZnF_C4
|
70 |
140 |
1.58e-33 |
SMART |
|
Blast:HOLI
|
183 |
208 |
1e-6 |
BLAST |
|
HOLI
|
250 |
409 |
1.36e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169040
|
| SMART Domains |
Protein: ENSMUSP00000133077
Gene: ENSMUSG00000002250
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
ZnF_C4
|
70 |
140 |
1.58e-33 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a number of different targeted mutations show variable prenatal lethality and a range of phenotypes such as placental, brain, skin, hair follicle, adipose and lipid homeostasis abnormalities, growth retardation, reduced fertility, andincreased incidence of tumors/induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
G |
T |
17: 84,989,479 (GRCm39) |
Y76* |
probably null |
Het |
| Acadsb |
T |
A |
7: 131,030,258 (GRCm39) |
V135E |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,775,286 (GRCm39) |
Y326H |
probably damaging |
Het |
| Actl11 |
T |
A |
9: 107,806,529 (GRCm39) |
V284D |
probably benign |
Het |
| Adcy10 |
G |
T |
1: 165,349,412 (GRCm39) |
D428Y |
probably damaging |
Het |
| Akap8 |
A |
G |
17: 32,528,470 (GRCm39) |
C481R |
probably damaging |
Het |
| Amotl2 |
G |
A |
9: 102,602,316 (GRCm39) |
A26T |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,044,822 (GRCm39) |
V814A |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,639,391 (GRCm39) |
N148K |
probably damaging |
Het |
| Ccdc149 |
G |
A |
5: 52,563,421 (GRCm39) |
T124M |
probably damaging |
Het |
| Cd320 |
A |
G |
17: 34,062,214 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,194 (GRCm39) |
T23A |
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,682,946 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
T |
A |
3: 145,062,699 (GRCm39) |
F675I |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,709,858 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,843,535 (GRCm39) |
M19K |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,712,233 (GRCm39) |
D123G |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,187,769 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,119,885 (GRCm39) |
S853P |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,247,625 (GRCm39) |
M423T |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,852,221 (GRCm39) |
Y1248F |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,045,727 (GRCm39) |
Y112H |
probably damaging |
Het |
| Gbp7 |
G |
A |
3: 142,244,661 (GRCm39) |
A203T |
probably damaging |
Het |
| Gon4l |
C |
T |
3: 88,802,643 (GRCm39) |
P1085S |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,541,800 (GRCm39) |
F176L |
probably damaging |
Het |
| Haghl |
A |
G |
17: 26,003,239 (GRCm39) |
F131S |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,491,049 (GRCm39) |
P4167S |
probably damaging |
Het |
| Hscb |
T |
C |
5: 110,978,820 (GRCm39) |
N199D |
probably benign |
Het |
| Lmbr1l |
T |
A |
15: 98,802,666 (GRCm39) |
N428Y |
probably damaging |
Het |
| Mc2r |
T |
A |
18: 68,540,505 (GRCm39) |
M263L |
probably benign |
Het |
| Metap1 |
T |
A |
3: 138,168,150 (GRCm39) |
T325S |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,719,696 (GRCm39) |
R225G |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,763,221 (GRCm39) |
L474Q |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,109,473 (GRCm39) |
Y155* |
probably null |
Het |
| Nrg3 |
A |
T |
14: 38,092,724 (GRCm39) |
C612* |
probably null |
Het |
| Or2aj5 |
T |
C |
16: 19,425,300 (GRCm39) |
I39M |
possibly damaging |
Het |
| Or5p52 |
A |
T |
7: 107,502,497 (GRCm39) |
D191V |
possibly damaging |
Het |
| Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,099,667 (GRCm39) |
F200L |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,381 (GRCm39) |
S585T |
probably damaging |
Het |
| Spdye4a |
T |
A |
5: 143,211,460 (GRCm39) |
I35F |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 36,097,922 (GRCm39) |
K442R |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,263,980 (GRCm39) |
I553T |
probably damaging |
Het |
| Tmem269 |
T |
A |
4: 119,071,338 (GRCm39) |
I26F |
probably benign |
Het |
| Tsen2 |
T |
C |
6: 115,536,568 (GRCm39) |
V108A |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,615,238 (GRCm39) |
D383E |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,910 (GRCm39) |
S1042P |
possibly damaging |
Het |
| Usp13 |
T |
C |
3: 32,901,974 (GRCm39) |
S102P |
probably damaging |
Het |
| Vmn2r118 |
T |
G |
17: 55,899,619 (GRCm39) |
S762R |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,415,407 (GRCm39) |
N799S |
possibly damaging |
Het |
| Zdhhc17 |
C |
T |
10: 110,803,550 (GRCm39) |
V256I |
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,684,221 (GRCm39) |
F279I |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,157,006 (GRCm39) |
T223A |
probably damaging |
Het |
|
| Other mutations in Ppard |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02023:Ppard
|
APN |
17 |
28,517,871 (GRCm39) |
missense |
probably benign |
|
|
IGL03027:Ppard
|
APN |
17 |
28,518,765 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1687:Ppard
|
UTSW |
17 |
28,516,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Ppard
|
UTSW |
17 |
28,517,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1791:Ppard
|
UTSW |
17 |
28,505,348 (GRCm39) |
missense |
unknown |
|
|
R1832:Ppard
|
UTSW |
17 |
28,516,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2062:Ppard
|
UTSW |
17 |
28,518,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Ppard
|
UTSW |
17 |
28,505,417 (GRCm39) |
missense |
probably benign |
|
|
R4733:Ppard
|
UTSW |
17 |
28,505,417 (GRCm39) |
missense |
probably benign |
|
|
R4801:Ppard
|
UTSW |
17 |
28,505,348 (GRCm39) |
missense |
unknown |
|
|
R4802:Ppard
|
UTSW |
17 |
28,505,348 (GRCm39) |
missense |
unknown |
|
|
R4803:Ppard
|
UTSW |
17 |
28,505,348 (GRCm39) |
missense |
unknown |
|
|
R5252:Ppard
|
UTSW |
17 |
28,517,822 (GRCm39) |
missense |
probably benign |
|
|
R5305:Ppard
|
UTSW |
17 |
28,517,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Ppard
|
UTSW |
17 |
28,516,093 (GRCm39) |
nonsense |
probably null |
|
|
R7060:Ppard
|
UTSW |
17 |
28,517,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7098:Ppard
|
UTSW |
17 |
28,517,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7506:Ppard
|
UTSW |
17 |
28,517,735 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7599:Ppard
|
UTSW |
17 |
28,516,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Ppard
|
UTSW |
17 |
28,517,864 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8774-TAIL:Ppard
|
UTSW |
17 |
28,517,864 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9127:Ppard
|
UTSW |
17 |
28,505,349 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation