Incidental Mutation 'R0856:Crtc3'
| ID |
82718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crtc3
|
| Ensembl Gene |
ENSMUSG00000030527 |
| Gene Name |
CREB regulated transcription coactivator 3 |
| Synonyms |
6332415K15Rik, 2610312F20Rik |
| MMRRC Submission |
039035-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R0856 (G1)
|
| Quality Score |
162 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80236375-80338625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80245372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 418
(Y418N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122255]
|
| AlphaFold |
Q91X84 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122255
AA Change: Y418N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527
AA Change: Y418N
| 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 |
noncoding transcript
Transcript: ENSMUST00000127182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149176
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.6%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,154,262 (GRCm39) |
S101R |
probably benign |
Het |
| Arhgap32 |
C |
A |
9: 32,171,516 (GRCm39) |
P1432Q |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,487,647 (GRCm39) |
V1134A |
probably damaging |
Het |
| Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
| Defb39 |
T |
A |
8: 19,102,982 (GRCm39) |
T38S |
possibly damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
| Kcnip4 |
A |
G |
5: 48,576,552 (GRCm39) |
|
probably null |
Het |
| Kif20a |
T |
C |
18: 34,764,271 (GRCm39) |
S666P |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
| Men1 |
A |
G |
19: 6,385,888 (GRCm39) |
Y133C |
probably damaging |
Het |
| Mtnr1a |
A |
G |
8: 45,540,870 (GRCm39) |
E277G |
possibly damaging |
Het |
| Numa1 |
C |
A |
7: 101,648,155 (GRCm39) |
Q629K |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,345 (GRCm39) |
S118P |
probably damaging |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
| Prr35 |
T |
C |
17: 26,167,001 (GRCm39) |
S179G |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Upf2 |
A |
G |
2: 5,962,463 (GRCm39) |
D55G |
unknown |
Het |
| Vit |
G |
T |
17: 78,927,086 (GRCm39) |
V344L |
possibly damaging |
Het |
| Vps26a |
A |
C |
10: 62,304,189 (GRCm39) |
V176G |
possibly damaging |
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 |
|
IGL01802:Crtc3
|
APN |
7 |
80,254,116 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACTTTAGCCTGAACTGCCTTTC -3'
(R):5'- ACTCAGTAAGATGGCACTCTCCTCG -3'
Sequencing Primer
(F):5'- CCCCAGGCCCAAGTTTATG -3'
(R):5'- TCAAGTGCCACCCGCAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation