Incidental Mutation 'IGL01802:Crtc3'
| ID |
155535 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crtc3
|
| Ensembl Gene |
ENSMUSG00000030527 |
| Gene Name |
CREB regulated transcription coactivator 3 |
| Synonyms |
6332415K15Rik, 2610312F20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
IGL01802
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80236375-80338625 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 80254116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 244
(C244*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122255]
|
| AlphaFold |
Q91X84 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000122255
AA Change: C244*
|
| SMART Domains |
Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527
AA Change: C244*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TORC_N
|
11 |
82 |
1.2e-20 |
PFAM |
|
Pfam:TORC_M
|
159 |
321 |
1.9e-64 |
PFAM |
|
low complexity region
|
366 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
480 |
N/A |
INTRINSIC |
|
Pfam:TORC_C
|
545 |
619 |
2.2e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206056
|
| 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 is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null mutation display resistance to diet-induced obesity, increased energy expenditure, decreased white adipose tissue mass, increased brown adipose cell numbers, and increased core temperature. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,242,438 (GRCm39) |
M1434L |
probably benign |
Het |
| Acta2 |
T |
A |
19: 34,220,836 (GRCm39) |
I291F |
possibly damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,146,714 (GRCm39) |
I230T |
probably damaging |
Het |
| Ark2c |
A |
T |
18: 77,550,610 (GRCm39) |
L106Q |
probably damaging |
Het |
| Copb1 |
A |
C |
7: 113,826,011 (GRCm39) |
S658A |
probably benign |
Het |
| Cyp4a14 |
G |
A |
4: 115,352,134 (GRCm39) |
R93* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,706,334 (GRCm39) |
F586L |
probably damaging |
Het |
| Dmtn |
G |
T |
14: 70,842,259 (GRCm39) |
F358L |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,651,533 (GRCm39) |
H1014L |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,284,531 (GRCm39) |
T765A |
probably damaging |
Het |
| Gtf3c4 |
T |
C |
2: 28,724,092 (GRCm39) |
K547E |
probably damaging |
Het |
| Hdc |
G |
T |
2: 126,445,814 (GRCm39) |
A230D |
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,302,198 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,044,999 (GRCm39) |
I264M |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,401,494 (GRCm39) |
V387I |
probably benign |
Het |
| Mmp8 |
T |
G |
9: 7,567,441 (GRCm39) |
F434V |
probably benign |
Het |
| Nr3c2 |
C |
A |
8: 77,635,224 (GRCm39) |
Y108* |
probably null |
Het |
| Or4k5 |
T |
G |
14: 50,386,173 (GRCm39) |
S53R |
probably benign |
Het |
| Or5b119 |
T |
C |
19: 13,456,729 (GRCm39) |
M278V |
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,104,306 (GRCm39) |
D560V |
probably damaging |
Het |
| Rbbp8nl |
T |
C |
2: 179,921,488 (GRCm39) |
S299G |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,646,958 (GRCm39) |
N484I |
probably damaging |
Het |
| Sncaip |
C |
T |
18: 53,002,109 (GRCm39) |
S210F |
probably damaging |
Het |
| Tiam1 |
G |
T |
16: 89,695,260 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,290,281 (GRCm39) |
Y330* |
probably null |
Het |
| Ush2a |
T |
G |
1: 188,169,154 (GRCm39) |
D1098E |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,019,470 (GRCm39) |
E518G |
probably benign |
Het |
|
| Other mutations in Crtc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:Crtc3
|
APN |
7 |
80,248,487 (GRCm39) |
intron |
probably benign |
|
|
IGL01325:Crtc3
|
APN |
7 |
80,327,116 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02166:Crtc3
|
APN |
7 |
80,327,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Crtc3
|
APN |
7 |
80,242,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02719:Crtc3
|
APN |
7 |
80,268,406 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02936:Crtc3
|
APN |
7 |
80,239,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03075:Crtc3
|
APN |
7 |
80,254,151 (GRCm39) |
intron |
probably benign |
|
|
R0856:Crtc3
|
UTSW |
7 |
80,245,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1655:Crtc3
|
UTSW |
7 |
80,248,524 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1962:Crtc3
|
UTSW |
7 |
80,239,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4484:Crtc3
|
UTSW |
7 |
80,239,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4533:Crtc3
|
UTSW |
7 |
80,239,543 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4818:Crtc3
|
UTSW |
7 |
80,327,170 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5292:Crtc3
|
UTSW |
7 |
80,268,358 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5908:Crtc3
|
UTSW |
7 |
80,245,542 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8991:Crtc3
|
UTSW |
7 |
80,327,191 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9092:Crtc3
|
UTSW |
7 |
80,239,628 (GRCm39) |
missense |
probably benign |
|
|
R9121:Crtc3
|
UTSW |
7 |
80,242,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Crtc3
|
UTSW |
7 |
80,248,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9321:Crtc3
|
UTSW |
7 |
80,259,650 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2014-02-04 |
Incidental Mutation