Incidental Mutation 'IGL02601:Crtc3'
ID 300081
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) question?
Stock # IGL02601
Quality Score
Status
Chromosome 7
Chromosomal Location 80236375-80338625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80242315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 499 (D499E)
Ref Sequence ENSEMBL: ENSMUSP00000113540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122255]
AlphaFold Q91X84
Predicted Effect probably damaging
Transcript: ENSMUST00000122255
AA Change: D499E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527
AA Change: D499E

DomainStartEndE-ValueType
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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
Other mutations in Crtc3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16