Incidental Mutation 'R2339:Pparg'
| ID |
246672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pparg
|
| Ensembl Gene |
ENSMUSG00000000440 |
| Gene Name |
peroxisome proliferator activated receptor gamma |
| Synonyms |
Nr1c3, PPARgamma2, PPARgamma, Ppar-gamma2, PPAR-gamma |
| MMRRC Submission |
040325-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2339 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115337912-115467360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 115428005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 164
(R164L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000450]
[ENSMUST00000171644]
[ENSMUST00000203732]
[ENSMUST00000205213]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000450
AA Change: R194L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: R194L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPARgamma_N
|
31 |
108 |
1.1e-35 |
PFAM |
|
ZnF_C4
|
136 |
206 |
2.61e-34 |
SMART |
|
HOLI
|
315 |
474 |
9.89e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171644
AA Change: R164L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: R164L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPARgamma_N
|
1 |
78 |
3.1e-36 |
PFAM |
|
ZnF_C4
|
106 |
176 |
2.61e-34 |
SMART |
|
HOLI
|
285 |
444 |
9.89e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203732
AA Change: R164L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: R164L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPARgamma_N
|
1 |
78 |
2e-35 |
PFAM |
|
ZnF_C4
|
106 |
176 |
2.61e-34 |
SMART |
|
HOLI
|
285 |
444 |
9.89e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204889
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205213
AA Change: R164L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144975
Gene: ENSMUSG00000000440
AA Change: R164L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPARgamma_N
|
1 |
78 |
7.1e-33 |
PFAM |
|
ZnF_C4
|
106 |
176 |
1.1e-36 |
SMART |
|
| Meta Mutation Damage Score |
0.9633 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: This gene encodes a nuclear receptor protein belonging to the peroxisome proliferator-activated receptor (Ppar) family. The encoded protein is a ligand-activated transcription factor that is involved in the regulation of adipocyte differentiation and glucose homeostasis. The encoded protein forms a heterodimer with retinoid X receptors and binds to DNA motifs termed "peroxisome proliferator response elements" to either activate or inhibit gene expression. Mice lacking the encoded protein die at an embryonic stage due to severe defects in placental vascularization. When the embryos lacking this gene are supplemented with healthy placentas, the mutants survive to term, but succumb to lipodystrophy and multiple hemorrhages. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lethality due to placental defects. Heterozygotes show greater B cell proliferation, enhanced leptin secretion, and resistance to diet-induced adipocyte hypertrophy and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
C |
11: 84,402,323 (GRCm39) |
D121G |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,100,023 (GRCm39) |
D358E |
probably benign |
Het |
| Cilp2 |
A |
T |
8: 70,335,544 (GRCm39) |
S485T |
probably benign |
Het |
| Cux1 |
A |
C |
5: 136,315,862 (GRCm39) |
S1059R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,314,028 (GRCm39) |
D1948G |
probably benign |
Het |
| Fyn |
A |
G |
10: 39,398,781 (GRCm39) |
T126A |
probably benign |
Het |
| Gm10134 |
C |
T |
2: 28,396,141 (GRCm39) |
S12F |
probably benign |
Het |
| Grm7 |
T |
C |
6: 111,472,642 (GRCm39) |
I827T |
possibly damaging |
Het |
| H1f4 |
T |
C |
13: 23,805,943 (GRCm39) |
|
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,341,336 (GRCm39) |
|
probably null |
Het |
| Helt |
T |
C |
8: 46,745,709 (GRCm39) |
N58S |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,543 (GRCm39) |
Y68H |
probably benign |
Het |
| Myof |
G |
T |
19: 37,926,375 (GRCm39) |
H1127N |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,412,593 (GRCm39) |
I971L |
probably benign |
Het |
| Or4k39 |
C |
T |
2: 111,239,534 (GRCm39) |
T258I |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,883,180 (GRCm39) |
R882H |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,756,102 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3b |
A |
T |
11: 29,150,725 (GRCm39) |
N464Y |
possibly damaging |
Het |
| Ric8b |
T |
C |
10: 84,805,888 (GRCm39) |
V333A |
probably benign |
Het |
| Sall2 |
G |
A |
14: 52,550,813 (GRCm39) |
S792L |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,383 (GRCm39) |
L87F |
probably damaging |
Het |
| Sox12 |
A |
G |
2: 152,238,958 (GRCm39) |
S221P |
possibly damaging |
Het |
| Tpr |
T |
A |
1: 150,289,525 (GRCm39) |
S619T |
probably benign |
Het |
| Trdmt1 |
G |
A |
2: 13,524,871 (GRCm39) |
Q195* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,750,640 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Upf2 |
A |
T |
2: 6,044,913 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,710,389 (GRCm39) |
T704I |
probably benign |
Het |
|
| Other mutations in Pparg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Pparg
|
APN |
6 |
115,416,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00938:Pparg
|
APN |
6 |
115,440,100 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01303:Pparg
|
APN |
6 |
115,449,915 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01454:Pparg
|
APN |
6 |
115,416,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01552:Pparg
|
APN |
6 |
115,467,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02998:Pparg
|
APN |
6 |
115,440,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03167:Pparg
|
APN |
6 |
115,450,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03179:Pparg
|
APN |
6 |
115,416,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Energy
|
UTSW |
6 |
115,428,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1083:Pparg
|
UTSW |
6 |
115,467,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1569:Pparg
|
UTSW |
6 |
115,416,960 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1620:Pparg
|
UTSW |
6 |
115,450,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1850:Pparg
|
UTSW |
6 |
115,427,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Pparg
|
UTSW |
6 |
115,416,984 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4941:Pparg
|
UTSW |
6 |
115,467,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Pparg
|
UTSW |
6 |
115,427,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5110:Pparg
|
UTSW |
6 |
115,449,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Pparg
|
UTSW |
6 |
115,467,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6900:Pparg
|
UTSW |
6 |
115,449,949 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6994:Pparg
|
UTSW |
6 |
115,428,011 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7177:Pparg
|
UTSW |
6 |
115,418,581 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7755:Pparg
|
UTSW |
6 |
115,440,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Pparg
|
UTSW |
6 |
115,450,102 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8496:Pparg
|
UTSW |
6 |
115,440,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8914:Pparg
|
UTSW |
6 |
115,440,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8953:Pparg
|
UTSW |
6 |
115,418,507 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0064:Pparg
|
UTSW |
6 |
115,416,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCACTTTTGCTGATGTCCAAG -3'
(R):5'- ACACGAAGAAGCTCTCATCAGG -3'
Sequencing Primer
(F):5'- CTGATGTCCAAGTCAATGAGTGTC -3'
(R):5'- GAAGCTCTCATCAGGATGACTTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation