Incidental Mutation 'R4283:Crtc2'
ID 321943
Institutional Source Beutler Lab
Gene Symbol Crtc2
Ensembl Gene ENSMUSG00000027936
Gene Name CREB regulated transcription coactivator 2
Synonyms 4632407F12Rik
MMRRC Submission 041651-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # R4283 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90161475-90171432 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 90166543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000184882]
AlphaFold Q3U182
Predicted Effect probably benign
Transcript: ENSMUST00000029545
SMART Domains Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
Pfam:TORC_N 18 72 1.8e-20 PFAM
low complexity region 127 141 N/A INTRINSIC
Pfam:TORC_M 168 323 3.7e-71 PFAM
low complexity region 335 384 N/A INTRINSIC
low complexity region 391 416 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 484 494 N/A INTRINSIC
low complexity region 517 528 N/A INTRINSIC
Pfam:TORC_C 614 691 4.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149897
Predicted Effect probably benign
Transcript: ENSMUST00000184882
SMART Domains Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:TORC_M 83 239 6.5e-65 PFAM
low complexity region 250 299 N/A INTRINSIC
low complexity region 306 331 N/A INTRINSIC
low complexity region 347 354 N/A INTRINSIC
low complexity region 399 409 N/A INTRINSIC
low complexity region 432 443 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating corticosterone levels, hepatocyte secretion of glucose in response to glucagon, and glycogen levels in liver and muscle cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,697,087 (GRCm39) T229A probably benign Het
Adgrg5 T G 8: 95,664,326 (GRCm39) V312G probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Camk2b A C 11: 5,937,099 (GRCm39) S327A probably benign Het
Card9 A G 2: 26,247,309 (GRCm39) I280T possibly damaging Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cga T C 4: 34,905,264 (GRCm39) probably null Het
Copg1 C T 6: 87,885,527 (GRCm39) T723M probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Ghr C A 15: 3,362,930 (GRCm39) V181L possibly damaging Het
Gm10750 A G 2: 148,857,916 (GRCm39) F112L unknown Het
Gm17541 A G 12: 4,739,656 (GRCm39) probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hdac10 A G 15: 89,009,826 (GRCm39) L402P possibly damaging Het
Hsd17b12 G C 2: 93,863,931 (GRCm39) R304G unknown Het
Iqgap3 T C 3: 88,006,167 (GRCm39) V526A probably benign Het
Ncaph A G 2: 126,963,005 (GRCm39) probably benign Het
Ninl T C 2: 150,795,336 (GRCm39) probably benign Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pcsk4 C A 10: 80,165,287 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,699,734 (GRCm39) E60G probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Slc17a6 A G 7: 51,294,824 (GRCm39) Y177C probably damaging Het
Tas2r104 C T 6: 131,662,374 (GRCm39) A112T probably damaging Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tas2r143 T A 6: 42,378,007 (GRCm39) probably null Het
Tfeb A G 17: 48,100,699 (GRCm39) E305G probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Upf2 A G 2: 5,978,369 (GRCm39) N411S unknown Het
Vmn2r52 C T 7: 9,904,565 (GRCm39) G425R possibly damaging Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Crtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Crtc2 APN 3 90,168,112 (GRCm39) missense probably damaging 0.98
IGL01874:Crtc2 APN 3 90,165,815 (GRCm39) missense probably damaging 1.00
IGL02220:Crtc2 APN 3 90,166,455 (GRCm39) splice site probably benign
IGL02454:Crtc2 APN 3 90,166,474 (GRCm39) missense probably benign 0.00
IGL02957:Crtc2 APN 3 90,169,840 (GRCm39) missense probably damaging 1.00
R0190:Crtc2 UTSW 3 90,166,716 (GRCm39) missense probably damaging 1.00
R0492:Crtc2 UTSW 3 90,170,804 (GRCm39) missense probably damaging 0.99
R0707:Crtc2 UTSW 3 90,170,804 (GRCm39) missense probably damaging 0.99
R0751:Crtc2 UTSW 3 90,169,940 (GRCm39) nonsense probably null
R1184:Crtc2 UTSW 3 90,169,940 (GRCm39) nonsense probably null
R1521:Crtc2 UTSW 3 90,164,690 (GRCm39) missense probably benign 0.10
R3856:Crtc2 UTSW 3 90,169,877 (GRCm39) missense probably damaging 1.00
R4747:Crtc2 UTSW 3 90,167,518 (GRCm39) missense probably damaging 1.00
R5293:Crtc2 UTSW 3 90,170,871 (GRCm39) missense probably benign
R5302:Crtc2 UTSW 3 90,168,325 (GRCm39) missense probably damaging 1.00
R5314:Crtc2 UTSW 3 90,168,348 (GRCm39) nonsense probably null
R6170:Crtc2 UTSW 3 90,166,907 (GRCm39) missense probably benign
R6887:Crtc2 UTSW 3 90,168,378 (GRCm39) missense probably damaging 0.99
R7067:Crtc2 UTSW 3 90,167,489 (GRCm39) missense probably benign 0.44
R7506:Crtc2 UTSW 3 90,166,519 (GRCm39) missense probably damaging 1.00
R8169:Crtc2 UTSW 3 90,170,883 (GRCm39) missense probably damaging 1.00
R8559:Crtc2 UTSW 3 90,170,904 (GRCm39) missense possibly damaging 0.95
R8825:Crtc2 UTSW 3 90,166,463 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTTATGGATCAAGGGCATCAG -3'
(R):5'- CAGAGTCAGAGCTTGTCCTG -3'

Sequencing Primer
(F):5'- ATACTGGGTGCCAAGGCCTTTC -3'
(R):5'- TCCTGTTGGAGGAGTAGAAATG -3'
Posted On 2015-06-20