Incidental Mutation 'R0333:Ppara'
| ID |
38359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppara
|
| Ensembl Gene |
ENSMUSG00000022383 |
| Gene Name |
peroxisome proliferator activated receptor alpha |
| Synonyms |
PPAR-alpha, Nr1c1, 4933429D07Rik, Ppar, PPARalpha |
| MMRRC Submission |
038542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
85619184-85687020 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85675161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 210
(I210N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057979]
[ENSMUST00000109422]
[ENSMUST00000109423]
|
| AlphaFold |
P23204 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057979
AA Change: I210N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059719
Gene: ENSMUSG00000022383
AA Change: I210N
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000109422
AA Change: I210N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105049
Gene: ENSMUSG00000022383
AA Change: I210N
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000109423
AA Change: I210N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105050
Gene: ENSMUSG00000022383
AA Change: I210N
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.5555 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alas1 |
T |
C |
9: 106,118,480 (GRCm39) |
N214S |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,165,820 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,185,818 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
G |
14: 59,737,060 (GRCm39) |
E60G |
probably damaging |
Het |
| Cdc5l |
G |
T |
17: 45,704,142 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
T |
C |
5: 121,998,671 (GRCm39) |
E1423G |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,512 (GRCm39) |
Q165K |
probably damaging |
Het |
| Drd1 |
C |
A |
13: 54,208,082 (GRCm39) |
C37F |
probably damaging |
Het |
| Elp3 |
G |
A |
14: 65,828,042 (GRCm39) |
P11L |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,314,777 (GRCm39) |
Y167H |
probably damaging |
Het |
| Gimap3 |
G |
A |
6: 48,742,664 (GRCm39) |
Q89* |
probably null |
Het |
| H2ac25 |
C |
A |
11: 58,845,685 (GRCm39) |
S41* |
probably null |
Het |
| Herc1 |
G |
A |
9: 66,371,981 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,007,271 (GRCm39) |
V603A |
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,624,833 (GRCm39) |
A130T |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,664,241 (GRCm39) |
Y530C |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,699,186 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,960,600 (GRCm39) |
L778M |
probably damaging |
Het |
| Mtdh |
T |
C |
15: 34,118,247 (GRCm39) |
S344P |
possibly damaging |
Het |
| Ncoa3 |
T |
G |
2: 165,896,211 (GRCm39) |
N371K |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,111,408 (GRCm39) |
|
probably benign |
Het |
| Nrn1l |
A |
G |
8: 106,621,052 (GRCm39) |
E48G |
probably benign |
Het |
| Nudcd1 |
A |
G |
15: 44,264,683 (GRCm39) |
I271T |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,593 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,498 (GRCm38) |
L129P |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,269,371 (GRCm39) |
N653S |
probably benign |
Het |
| Plekhg1 |
A |
C |
10: 3,914,419 (GRCm39) |
K1380N |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,279,077 (GRCm39) |
|
probably benign |
Het |
| Prkn |
T |
C |
17: 11,286,027 (GRCm39) |
F6L |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,337 (GRCm39) |
L1386P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,829,685 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,240 (GRCm39) |
L2563I |
probably damaging |
Het |
| Rps7 |
A |
G |
12: 28,681,200 (GRCm39) |
|
probably benign |
Het |
| Rslcan18 |
T |
C |
13: 67,246,686 (GRCm39) |
K309E |
probably damaging |
Het |
| Sec14l5 |
C |
T |
16: 4,984,930 (GRCm39) |
T92M |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,585,514 (GRCm39) |
|
probably benign |
Het |
| Smad2 |
G |
A |
18: 76,395,692 (GRCm39) |
A44T |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,671,048 (GRCm39) |
V732A |
possibly damaging |
Het |
| Spata2l |
A |
G |
8: 123,960,371 (GRCm39) |
F306S |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,677,491 (GRCm39) |
D2552G |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,595,711 (GRCm39) |
L358H |
possibly damaging |
Het |
| Tk2 |
C |
T |
8: 104,975,146 (GRCm39) |
|
probably benign |
Het |
| Tm6sf2 |
C |
T |
8: 70,530,564 (GRCm39) |
R215C |
probably damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,304,555 (GRCm39) |
I204T |
probably damaging |
Het |
| Tubgcp2 |
C |
A |
7: 139,579,260 (GRCm39) |
W675C |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,321,794 (GRCm39) |
I62N |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,491 (GRCm39) |
T716A |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,879,949 (GRCm39) |
T3008K |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,905,124 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ppara |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Ppara
|
APN |
15 |
85,685,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTCGCCATTCCTAGTGTGACC -3'
(R):5'- TGGACAGTGTTCTCAGCCATTCCC -3'
Sequencing Primer
(F):5'- CATTCCTAGTGTGACCTACCAC -3'
(R):5'- AGCCATTCCCTGTGACTGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation