Incidental Mutation 'IGL00417:Ppara'
ID 4060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppara
Ensembl Gene ENSMUSG00000022383
Gene Name peroxisome proliferator activated receptor alpha
Synonyms PPAR-alpha, Nr1c1, 4933429D07Rik, Ppar, PPARalpha
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00417
Quality Score
Status
Chromosome 15
Chromosomal Location 85619184-85687020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85685268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 406 (H406N)
Ref Sequence ENSEMBL: ENSMUSP00000105050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057979] [ENSMUST00000109422] [ENSMUST00000109423]
AlphaFold P23204
Predicted Effect probably benign
Transcript: ENSMUST00000057979
AA Change: H406N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059719
Gene: ENSMUSG00000022383
AA Change: H406N

DomainStartEndE-ValueType
low complexity region 34 51 N/A INTRINSIC
low complexity region 73 89 N/A INTRINSIC
ZnF_C4 99 169 2.27e-34 SMART
HOLI 278 437 2.8e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109422
AA Change: H406N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105049
Gene: ENSMUSG00000022383
AA Change: H406N

DomainStartEndE-ValueType
low complexity region 34 51 N/A INTRINSIC
low complexity region 73 89 N/A INTRINSIC
ZnF_C4 99 169 2.27e-34 SMART
HOLI 278 437 2.8e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109423
AA Change: H406N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105050
Gene: ENSMUSG00000022383
AA Change: H406N

DomainStartEndE-ValueType
low complexity region 34 51 N/A INTRINSIC
low complexity region 73 89 N/A INTRINSIC
ZnF_C4 99 169 2.27e-34 SMART
HOLI 278 437 2.8e-25 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit loss of diurnal variation in hepatic fatty acid and cholesterol synthesis, increased hepatic lipid and gonadal adipose stores, impaired skin wound healing, and altered metabolic responses to starvation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,022,982 (GRCm39) I39M probably benign Het
Acoxl G A 2: 127,820,724 (GRCm39) C92Y probably damaging Het
Actl6b G T 5: 137,552,899 (GRCm39) R76L probably damaging Het
Afg2a A G 3: 37,505,951 (GRCm39) I677V possibly damaging Het
Ank T C 15: 27,544,437 (GRCm39) M66T possibly damaging Het
C6 C T 15: 4,789,449 (GRCm39) A298V possibly damaging Het
Clip4 A T 17: 72,156,937 (GRCm39) N591Y probably damaging Het
Cntnap5b T C 1: 99,978,479 (GRCm39) I165T probably damaging Het
Dennd1b G A 1: 138,990,678 (GRCm39) R214H probably damaging Het
Eri2 G A 7: 119,386,964 (GRCm39) T185I probably benign Het
Fbxo33 A G 12: 59,249,456 (GRCm39) V476A probably damaging Het
Fer1l4 G A 2: 155,861,840 (GRCm39) R1826* probably null Het
Fyb1 A T 15: 6,610,258 (GRCm39) K277I probably damaging Het
Gli3 C A 13: 15,818,884 (GRCm39) H229N probably damaging Het
Hmcn1 T C 1: 150,553,029 (GRCm39) I2554V probably benign Het
Maml2 A T 9: 13,532,900 (GRCm39) probably benign Het
Map4k4 T C 1: 40,053,692 (GRCm39) F930L possibly damaging Het
Mmadhc T C 2: 50,179,043 (GRCm39) D125G probably benign Het
Nipbl A G 15: 8,396,157 (GRCm39) S139P probably damaging Het
Obscn A G 11: 58,897,614 (GRCm39) L6647P unknown Het
Psg27 T A 7: 18,295,842 (GRCm39) H201L probably benign Het
Qser1 A T 2: 104,617,248 (GRCm39) I1188N probably damaging Het
Rc3h1 T C 1: 160,783,551 (GRCm39) probably null Het
Septin2 C T 1: 93,426,864 (GRCm39) H158Y probably damaging Het
Snx9 C A 17: 5,942,172 (GRCm39) Q100K probably benign Het
Thnsl2 G A 6: 71,108,884 (GRCm39) T309I probably damaging Het
Thsd7b A G 1: 129,523,571 (GRCm39) R125G probably damaging Het
Tmem62 T G 2: 120,837,445 (GRCm39) probably null Het
Tnpo3 A T 6: 29,578,460 (GRCm39) probably null Het
Trpc6 A T 9: 8,680,439 (GRCm39) D889V probably damaging Het
Tubgcp6 C A 15: 88,988,211 (GRCm39) V913L probably benign Het
Uox A T 3: 146,333,565 (GRCm39) M255L probably benign Het
Other mutations in Ppara
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ppara APN 15 85,661,843 (GRCm39) missense probably damaging 0.99
IGL01409:Ppara APN 15 85,661,844 (GRCm39) missense probably damaging 0.98
IGL02080:Ppara APN 15 85,673,220 (GRCm39) missense possibly damaging 0.74
IGL02442:Ppara APN 15 85,685,344 (GRCm39) missense probably benign 0.19
IGL02810:Ppara APN 15 85,661,878 (GRCm39) missense probably damaging 0.99
IGL02852:Ppara APN 15 85,682,079 (GRCm39) missense probably benign 0.00
R0333:Ppara UTSW 15 85,675,161 (GRCm39) missense probably damaging 1.00
R0551:Ppara UTSW 15 85,671,306 (GRCm39) splice site probably benign
R0883:Ppara UTSW 15 85,682,372 (GRCm39) missense probably damaging 1.00
R1125:Ppara UTSW 15 85,673,256 (GRCm39) missense possibly damaging 0.71
R1189:Ppara UTSW 15 85,682,365 (GRCm39) missense probably benign 0.04
R1233:Ppara UTSW 15 85,682,222 (GRCm39) missense probably damaging 1.00
R1582:Ppara UTSW 15 85,682,429 (GRCm39) missense possibly damaging 0.69
R1755:Ppara UTSW 15 85,682,180 (GRCm39) missense probably benign 0.14
R1913:Ppara UTSW 15 85,685,300 (GRCm39) missense probably damaging 1.00
R2163:Ppara UTSW 15 85,685,247 (GRCm39) missense probably benign 0.04
R4570:Ppara UTSW 15 85,671,398 (GRCm39) missense probably benign 0.02
R4980:Ppara UTSW 15 85,671,434 (GRCm39) missense probably damaging 0.99
R5117:Ppara UTSW 15 85,661,962 (GRCm39) missense probably benign 0.00
R5749:Ppara UTSW 15 85,673,229 (GRCm39) missense probably benign 0.35
R6199:Ppara UTSW 15 85,671,434 (GRCm39) missense probably damaging 0.99
R6221:Ppara UTSW 15 85,661,881 (GRCm39) missense probably benign 0.02
R6624:Ppara UTSW 15 85,675,237 (GRCm39) missense probably benign 0.24
R7382:Ppara UTSW 15 85,671,429 (GRCm39) missense probably damaging 1.00
R7534:Ppara UTSW 15 85,661,927 (GRCm39) missense probably benign
R7629:Ppara UTSW 15 85,682,392 (GRCm39) missense probably damaging 0.98
R8171:Ppara UTSW 15 85,682,077 (GRCm39) missense probably benign
R8848:Ppara UTSW 15 85,673,188 (GRCm39) missense possibly damaging 0.93
R9378:Ppara UTSW 15 85,661,837 (GRCm39) missense possibly damaging 0.62
Posted On 2012-04-20