Incidental Mutation 'IGL02454:Crtc2'
ID293750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crtc2
Ensembl Gene ENSMUSG00000027936
Gene NameCREB regulated transcription coactivator 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.381) question?
Stock #IGL02454
Quality Score
Status
Chromosome3
Chromosomal Location90254163-90264125 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 90259167 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 65 (G65S)
Ref Sequence ENSEMBL: ENSMUSP00000139194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000184882]
Predicted Effect probably benign
Transcript: ENSMUST00000029545
AA Change: G150S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
AA Change: G150S

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
AA Change: G65S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936
AA Change: G65S

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
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T A 16: 38,827,947 T267S probably benign Het
Amz2 T G 11: 109,434,061 probably benign Het
Atp13a5 A G 16: 29,232,808 F1104S probably benign Het
Cacna1c T C 6: 118,602,180 N1610S probably damaging Het
Ccnl1 A T 3: 65,956,897 D122E probably damaging Het
Dnah17 T C 11: 118,080,767 T2160A probably damaging Het
Fads3 T G 19: 10,055,119 L278R probably damaging Het
Foxp4 A T 17: 47,875,582 L424* probably null Het
Gm10392 A T 11: 77,518,390 E310V probably damaging Het
Gm11554 T A 11: 99,803,989 S133C unknown Het
Hacd2 T A 16: 35,106,391 F253L probably benign Het
Il3ra T C 14: 14,351,113 S212P probably benign Het
Mdn1 T C 4: 32,694,674 probably null Het
Mtfr1l A T 4: 134,530,385 L111H probably damaging Het
Mysm1 A G 4: 94,970,504 probably benign Het
Olfr418 C A 1: 173,270,940 S255Y probably damaging Het
Olfr646 T C 7: 104,106,612 V111A probably damaging Het
Plec A T 15: 76,191,031 F357I probably damaging Het
Polr3a C A 14: 24,475,823 V450L possibly damaging Het
Prkd1 T C 12: 50,364,673 K764R probably benign Het
Pxn C T 5: 115,552,266 P256S probably damaging Het
Rbm25 T A 12: 83,660,322 F247L probably benign Het
Rfx4 C T 10: 84,840,106 T62M possibly damaging Het
Rps4l-ps T C 7: 114,927,264 noncoding transcript Het
Scn11a A G 9: 119,758,544 I1378T probably benign Het
Siglecg T C 7: 43,408,895 S69P probably benign Het
Stox1 T C 10: 62,667,826 Y61C probably damaging Het
Tnks C T 8: 34,831,728 probably benign Het
Tpr A G 1: 150,431,192 S1587G probably benign Het
Trappc6b A G 12: 59,043,647 *97Q probably null Het
Usf3 T C 16: 44,217,182 V675A probably damaging Het
Wdr7 C T 18: 63,796,228 T1045M probably benign Het
Zc3h11a A T 1: 133,624,516 C618S probably benign Het
Zfp398 T C 6: 47,840,367 V47A possibly damaging Het
Zzz3 A G 3: 152,428,574 N423S probably benign Het
Other mutations in Crtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Crtc2 APN 3 90260805 missense probably damaging 0.98
IGL01874:Crtc2 APN 3 90258508 missense probably damaging 1.00
IGL02220:Crtc2 APN 3 90259148 splice site probably benign
IGL02957:Crtc2 APN 3 90262533 missense probably damaging 1.00
R0190:Crtc2 UTSW 3 90259409 missense probably damaging 1.00
R0492:Crtc2 UTSW 3 90263497 missense probably damaging 0.99
R0707:Crtc2 UTSW 3 90263497 missense probably damaging 0.99
R0751:Crtc2 UTSW 3 90262633 nonsense probably null
R1184:Crtc2 UTSW 3 90262633 nonsense probably null
R1521:Crtc2 UTSW 3 90257383 missense probably benign 0.10
R3856:Crtc2 UTSW 3 90262570 missense probably damaging 1.00
R4283:Crtc2 UTSW 3 90259236 splice site probably benign
R4747:Crtc2 UTSW 3 90260211 missense probably damaging 1.00
R5293:Crtc2 UTSW 3 90263564 missense probably benign
R5302:Crtc2 UTSW 3 90261018 missense probably damaging 1.00
R5314:Crtc2 UTSW 3 90261041 nonsense probably null
R6170:Crtc2 UTSW 3 90259600 missense probably benign
R6887:Crtc2 UTSW 3 90261071 missense probably damaging 0.99
R7067:Crtc2 UTSW 3 90260182 missense probably benign 0.44
R7506:Crtc2 UTSW 3 90259212 missense probably damaging 1.00
R8169:Crtc2 UTSW 3 90263576 missense probably damaging 1.00
Posted On2015-04-16