Incidental Mutation 'R4484:Crtc3'
| ID |
331533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crtc3
|
| Ensembl Gene |
ENSMUSG00000030527 |
| Gene Name |
CREB regulated transcription coactivator 3 |
| Synonyms |
6332415K15Rik, 2610312F20Rik |
| MMRRC Submission |
041740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R4484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80236375-80338625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80239696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 552
(D552G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122255]
|
| AlphaFold |
Q91X84 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122255
AA Change: D552G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527
AA Change: D552G
| 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: ENSMUST00000149176
|
| Meta Mutation Damage Score |
0.1244 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (46/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,301,730 (GRCm39) |
C1101R |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,357,016 (GRCm39) |
I588T |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd164l2 |
T |
A |
4: 132,950,986 (GRCm39) |
V147E |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,723,262 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,836,482 (GRCm39) |
T894A |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,455,733 (GRCm39) |
N593I |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,083 (GRCm39) |
E142G |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
| Gm44501 |
T |
A |
17: 40,887,507 (GRCm39) |
F8L |
unknown |
Het |
| Gpr179 |
T |
C |
11: 97,226,537 (GRCm39) |
S1873G |
probably benign |
Het |
| Gprin2 |
C |
A |
14: 33,916,754 (GRCm39) |
A339S |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,649,038 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,208 (GRCm39) |
R91* |
probably null |
Het |
| Igtp |
G |
A |
11: 58,097,824 (GRCm39) |
V332I |
possibly damaging |
Het |
| Itfg1 |
G |
A |
8: 86,452,878 (GRCm39) |
P497S |
probably damaging |
Het |
| Junb |
T |
C |
8: 85,704,517 (GRCm39) |
N181S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,614,145 (GRCm39) |
Y1305H |
probably benign |
Het |
| Lrrcc1 |
A |
T |
3: 14,616,503 (GRCm39) |
N44I |
probably damaging |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Mkks |
T |
C |
2: 136,722,494 (GRCm39) |
E221G |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,970,379 (GRCm39) |
V374A |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,422,187 (GRCm39) |
C4441F |
possibly damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,710 (GRCm39) |
Q395* |
probably null |
Het |
| Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
| Ntng1 |
C |
A |
3: 110,051,124 (GRCm39) |
|
probably benign |
Het |
| Padi1 |
G |
T |
4: 140,544,581 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
T |
C |
1: 167,452,596 (GRCm39) |
S133P |
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,339,192 (GRCm39) |
I110T |
probably benign |
Het |
| Strap |
T |
C |
6: 137,726,334 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,631,831 (GRCm39) |
D890G |
probably benign |
Het |
| Tgtp2 |
A |
T |
11: 48,950,179 (GRCm39) |
M131K |
probably damaging |
Het |
| Tppp2 |
T |
C |
14: 52,156,868 (GRCm39) |
F82L |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,863,126 (GRCm39) |
K397E |
possibly damaging |
Het |
| Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
| Usp36 |
T |
A |
11: 118,176,621 (GRCm39) |
R66W |
probably damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,980,174 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r61 |
G |
A |
7: 41,950,120 (GRCm39) |
D847N |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,987,137 (GRCm39) |
|
probably null |
Het |
| Zfp963 |
T |
C |
8: 70,197,135 (GRCm39) |
I36V |
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,107,351 (GRCm39) |
Y428H |
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 |
|
|
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 |
|
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'- ATAGCCGGTCAGCTCGAAAC -3'
(R):5'- GCAGCATTAGGTAAATGAAACCC -3'
Sequencing Primer
(F):5'- GTCAGCTCGAAACGTCTCC -3'
(R):5'- GGCAGTACACATCTGTCATTCGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation