Incidental Mutation 'IGL01325:Crtc3'
ID 74233
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 # IGL01325
Quality Score
Status
Chromosome 7
Chromosomal Location 80236375-80338625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80327116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 70 (R70Q)
Ref Sequence ENSEMBL: ENSMUSP00000113540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122255]
AlphaFold Q91X84
Predicted Effect probably damaging
Transcript: ENSMUST00000122255
AA Change: R70Q

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527
AA Change: R70Q

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: ENSMUST00000152668
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,347 (GRCm39) T127A probably damaging Het
Acrv1 T A 9: 36,609,810 (GRCm39) M227K probably benign Het
Adam22 T C 5: 8,177,333 (GRCm39) N592S probably benign Het
Adamts15 T A 9: 30,832,984 (GRCm39) I184F possibly damaging Het
Adcy1 T C 11: 7,014,102 (GRCm39) V168A possibly damaging Het
Arl6ip5 T C 6: 97,209,501 (GRCm39) F179L probably benign Het
Asxl2 G T 12: 3,477,172 (GRCm39) R6L probably damaging Het
Btaf1 T A 19: 36,982,049 (GRCm39) probably benign Het
Ccdc136 T C 6: 29,412,949 (GRCm39) F445L probably benign Het
Cpne3 T C 4: 19,535,229 (GRCm39) S268G probably benign Het
Fam169a C A 13: 97,259,207 (GRCm39) A421E probably benign Het
Fhod1 A T 8: 106,058,281 (GRCm39) M825K probably benign Het
Gjb2 T C 14: 57,337,678 (GRCm39) T177A probably benign Het
Gm6576 A G 15: 27,025,970 (GRCm39) noncoding transcript Het
Herpud2 A G 9: 25,025,207 (GRCm39) V175A probably benign Het
Hmgxb3 T C 18: 61,267,078 (GRCm39) D1052G probably damaging Het
Itpr1 T A 6: 108,358,169 (GRCm39) F578L probably benign Het
Kdm7a T G 6: 39,135,243 (GRCm39) probably benign Het
Krt76 A T 15: 101,793,323 (GRCm39) S572T unknown Het
Lrrcc1 T C 3: 14,601,601 (GRCm39) probably null Het
Marchf9 A C 10: 126,893,459 (GRCm39) V183G probably damaging Het
Mrtfb T C 16: 13,219,088 (GRCm39) V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 (GRCm39) D123E probably benign Het
Nhlh2 T G 3: 101,920,342 (GRCm39) Y125D probably damaging Het
Nol4l A G 2: 153,278,271 (GRCm39) probably benign Het
Npas1 C T 7: 16,197,247 (GRCm39) G206D probably benign Het
Or52h9 T C 7: 104,202,896 (GRCm39) F257L probably damaging Het
Or5ak24 C A 2: 85,260,639 (GRCm39) C178F possibly damaging Het
Pcdhb4 T A 18: 37,442,676 (GRCm39) V662E probably damaging Het
Plxna3 G A X: 73,379,400 (GRCm39) G758S probably damaging Het
Prdm15 T A 16: 97,607,717 (GRCm39) N709Y probably damaging Het
Pygo2 C T 3: 89,339,753 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,120 (GRCm39) S947T probably damaging Het
Rasgrp1 T A 2: 117,129,010 (GRCm39) H203L probably damaging Het
Rbbp6 G A 7: 122,587,841 (GRCm39) G270R probably damaging Het
Rcl1 A G 19: 29,098,662 (GRCm39) probably null Het
Rpl23a-ps1 T C 1: 46,020,793 (GRCm39) noncoding transcript Het
Serpinb7 T G 1: 107,363,110 (GRCm39) H91Q probably damaging Het
Shd C T 17: 56,279,839 (GRCm39) P111S possibly damaging Het
Slc35e1 G T 8: 73,237,602 (GRCm39) probably benign Het
Srgap3 C T 6: 112,752,647 (GRCm39) R279H probably damaging Het
Sstr4 G A 2: 148,237,472 (GRCm39) E28K probably benign Het
Stip1 T C 19: 6,998,464 (GRCm39) probably benign Het
Syne2 A G 12: 75,973,288 (GRCm39) E1097G probably benign Het
Tbcd T A 11: 121,431,819 (GRCm39) V489E probably damaging Het
Tnks2 T A 19: 36,849,033 (GRCm39) S516R probably benign Het
Trmt44 T A 5: 35,726,147 (GRCm39) R343S possibly damaging Het
Trps1 A G 15: 50,710,210 (GRCm39) S47P probably benign Het
Ubr3 A C 2: 69,747,441 (GRCm39) K235Q possibly damaging Het
Uckl1 G A 2: 181,216,754 (GRCm39) Q48* probably null Het
Vat1 T C 11: 101,356,541 (GRCm39) D140G probably benign Het
Vmn2r80 A G 10: 79,030,081 (GRCm39) T636A possibly damaging Het
Zfp423 A T 8: 88,508,239 (GRCm39) probably null Het
Zfp667 C A 7: 6,293,545 (GRCm39) T15N probably damaging Het
Other mutations in Crtc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Crtc3 APN 7 80,248,487 (GRCm39) intron probably benign
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
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 2013-10-07