Incidental Mutation 'R0546:Crebbp'
ID 44871
Institutional Source Beutler Lab
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms CBP, KAT3A
MMRRC Submission 038738-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0546 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 3899198-4031864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3903671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1856 (I1856N)
Ref Sequence ENSEMBL: ENSMUSP00000023165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023165] [ENSMUST00000205765]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023165
AA Change: I1856N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: I1856N

DomainStartEndE-ValueType
low complexity region 47 58 N/A INTRINSIC
low complexity region 75 89 N/A INTRINSIC
low complexity region 95 105 N/A INTRINSIC
low complexity region 213 233 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
ZnF_TAZ 347 432 2.31e-32 SMART
low complexity region 494 516 N/A INTRINSIC
Pfam:KIX 586 666 1.4e-42 PFAM
low complexity region 874 893 N/A INTRINSIC
low complexity region 909 958 N/A INTRINSIC
low complexity region 1045 1065 N/A INTRINSIC
BROMO 1085 1195 4.26e-43 SMART
Blast:KAT11 1265 1308 3e-15 BLAST
KAT11 1343 1649 4.25e-137 SMART
ZnF_ZZ 1702 1743 2.17e-15 SMART
ZnF_TAZ 1767 1845 6.8e-30 SMART
low complexity region 1847 1877 N/A INTRINSIC
low complexity region 1884 1914 N/A INTRINSIC
low complexity region 1942 1971 N/A INTRINSIC
Pfam:Creb_binding 2019 2115 8.2e-38 PFAM
low complexity region 2147 2161 N/A INTRINSIC
low complexity region 2197 2216 N/A INTRINSIC
low complexity region 2260 2279 N/A INTRINSIC
low complexity region 2286 2304 N/A INTRINSIC
low complexity region 2343 2378 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191387
Predicted Effect possibly damaging
Transcript: ENSMUST00000205765
AA Change: I1818N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205945
Predicted Effect probably benign
Transcript: ENSMUST00000206464
Meta Mutation Damage Score 0.2267 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for null or altered alleles die around midgestation with defects in hemopoiesis, blood vessel formation, and neural tube closure. Heterozygotes may exhibit skeletal, cardiac, and hematopoietic defects, retarded growth, and hematologic tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,077,076 (GRCm39) probably null Het
Actn1 C T 12: 80,225,208 (GRCm39) R418Q probably benign Het
Adam39 G A 8: 41,279,468 (GRCm39) V620M probably damaging Het
Agr3 C A 12: 35,978,329 (GRCm39) T14K probably benign Het
Alpk2 T C 18: 65,439,788 (GRCm39) D1002G probably benign Het
Amz2 T A 11: 109,324,780 (GRCm39) N221K probably benign Het
Aox4 A G 1: 58,289,333 (GRCm39) E752G probably damaging Het
Ap2a1 C T 7: 44,554,132 (GRCm39) G500S probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Ccdc112 A G 18: 46,424,139 (GRCm39) S200P possibly damaging Het
Ccdc18 A T 5: 108,322,830 (GRCm39) E643D probably benign Het
Ccdc180 A T 4: 45,904,597 (GRCm39) T398S possibly damaging Het
Cnp A G 11: 100,471,549 (GRCm39) Y397C probably damaging Het
Cpa4 T C 6: 30,580,962 (GRCm39) W184R probably damaging Het
Ctrl A G 8: 106,658,966 (GRCm39) I200T probably damaging Het
Cyfip1 C T 7: 55,572,564 (GRCm39) R934* probably null Het
Dennd5a A G 7: 109,520,633 (GRCm39) V408A probably benign Het
Dhfr G A 13: 92,504,692 (GRCm39) probably null Het
Dnajc6 A T 4: 101,492,388 (GRCm39) N740Y probably damaging Het
Fam110a T C 2: 151,812,732 (GRCm39) T13A probably benign Het
Fars2 G T 13: 36,388,569 (GRCm39) K19N probably benign Het
Fer1l6 A T 15: 58,430,257 (GRCm39) probably null Het
Gabra1 T A 11: 42,053,428 (GRCm39) T69S probably damaging Het
Galnt18 T G 7: 111,107,348 (GRCm39) N475T probably damaging Het
Gbp4 T C 5: 105,268,836 (GRCm39) Y439C probably damaging Het
Gpatch2l A G 12: 86,335,622 (GRCm39) *409W probably null Het
Hip1r T C 5: 124,137,114 (GRCm39) V658A possibly damaging Het
Hspg2 A G 4: 137,229,605 (GRCm39) D73G probably benign Het
Ifitm2 A G 7: 140,535,656 (GRCm39) V58A possibly damaging Het
Ift172 T C 5: 31,414,945 (GRCm39) D1359G probably benign Het
Ing1 A G 8: 11,607,031 (GRCm39) D41G probably damaging Het
Itgal C T 7: 126,909,486 (GRCm39) T446I probably benign Het
Itgav G T 2: 83,633,586 (GRCm39) M978I probably benign Het
Jazf1 A G 6: 52,754,681 (GRCm39) Y132H possibly damaging Het
Lgr4 T A 2: 109,829,766 (GRCm39) N211K probably damaging Het
Mgat4d A G 8: 84,082,350 (GRCm39) N100S possibly damaging Het
Mrgprb3 T C 7: 48,293,263 (GRCm39) Y96C probably damaging Het
Myh11 A C 16: 14,023,492 (GRCm39) L1562R probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myo15a A G 11: 60,397,139 (GRCm39) Y2667C probably damaging Het
Or14j7 T A 17: 38,235,229 (GRCm39) C257* probably null Het
Or52ae7 A G 7: 103,119,907 (GRCm39) I220M possibly damaging Het
Or6c70 G A 10: 129,710,407 (GRCm39) T73I possibly damaging Het
Or8k37 T A 2: 86,469,573 (GRCm39) T160S possibly damaging Het
Or8k38 C T 2: 86,488,235 (GRCm39) C189Y possibly damaging Het
Or9m2 T A 2: 87,820,816 (GRCm39) Y120* probably null Het
Paox G T 7: 139,711,591 (GRCm39) G148W probably damaging Het
Pkd1 T C 17: 24,799,112 (GRCm39) V2777A probably benign Het
Plod2 T A 9: 92,477,388 (GRCm39) V360E probably damaging Het
Prune2 T C 19: 16,998,030 (GRCm39) probably benign Het
Sbds G T 5: 130,282,919 (GRCm39) A3D possibly damaging Het
Sec23a T C 12: 59,031,953 (GRCm39) T426A probably benign Het
Sec31a T C 5: 100,551,929 (GRCm39) Y148C probably damaging Het
Shprh T A 10: 11,059,631 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,066,742 (GRCm39) V299A probably benign Het
Smg8 T C 11: 86,974,439 (GRCm39) Y174C possibly damaging Het
Snx22 T A 9: 65,976,059 (GRCm39) Y58F probably damaging Het
Snx25 A G 8: 46,556,667 (GRCm39) Y308H probably benign Het
St3gal2 A G 8: 111,696,738 (GRCm39) probably null Het
Stab1 C T 14: 30,861,507 (GRCm39) R2500H possibly damaging Het
Steap4 T C 5: 8,025,870 (GRCm39) S144P probably damaging Het
Stfa3 T A 16: 36,272,619 (GRCm39) probably benign Het
Tmprss9 C A 10: 80,735,157 (GRCm39) Q1095K probably benign Het
Top2a A G 11: 98,890,052 (GRCm39) V1217A possibly damaging Het
Trhr2 A G 8: 123,085,228 (GRCm39) probably null Het
Trim7 A G 11: 48,736,336 (GRCm39) E23G probably damaging Het
Trpv3 A T 11: 73,188,013 (GRCm39) E788V probably damaging Het
Ttn A G 2: 76,575,863 (GRCm39) I25010T probably damaging Het
Ube2ql1 T C 13: 69,887,419 (GRCm39) H14R unknown Het
Uggt1 C T 1: 36,235,052 (GRCm39) R419H probably benign Het
Xpo4 A G 14: 57,850,731 (GRCm39) V391A probably benign Het
Zfhx3 A G 8: 109,520,819 (GRCm39) D647G probably damaging Het
Zfp354c A T 11: 50,706,457 (GRCm39) M206K probably benign Het
Zfp804a A G 2: 82,089,264 (GRCm39) N1031S possibly damaging Het
Zfp868 A G 8: 70,064,882 (GRCm39) V151A probably benign Het
Other mutations in Crebbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Crebbp APN 16 3,997,416 (GRCm39) missense probably benign
IGL01366:Crebbp APN 16 3,944,370 (GRCm39) missense probably damaging 1.00
IGL01457:Crebbp APN 16 3,942,632 (GRCm39) missense probably damaging 0.99
IGL01713:Crebbp APN 16 3,946,512 (GRCm39) missense possibly damaging 0.79
IGL02382:Crebbp APN 16 3,925,934 (GRCm39) missense probably damaging 1.00
IGL02513:Crebbp APN 16 3,944,469 (GRCm39) splice site probably null
IGL02519:Crebbp APN 16 3,919,457 (GRCm39) missense possibly damaging 0.80
IGL02533:Crebbp APN 16 3,925,296 (GRCm39) missense probably damaging 1.00
IGL02582:Crebbp APN 16 3,902,141 (GRCm39) missense possibly damaging 0.87
IGL02600:Crebbp APN 16 3,972,882 (GRCm39) missense probably benign
IGL02716:Crebbp APN 16 3,932,742 (GRCm39) missense probably benign 0.22
IGL02736:Crebbp APN 16 3,972,774 (GRCm39) missense probably benign 0.00
IGL03349:Crebbp APN 16 3,935,222 (GRCm39) missense possibly damaging 0.69
enchanting UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
Intriguing UTSW 16 3,997,886 (GRCm39) missense possibly damaging 0.83
Rivetting UTSW 16 3,909,753 (GRCm39) missense probably damaging 1.00
Stunning UTSW 16 3,909,792 (GRCm39) missense probably damaging 1.00
Suggestive UTSW 16 3,925,991 (GRCm39) missense probably damaging 1.00
PIT4418001:Crebbp UTSW 16 3,932,689 (GRCm39) missense probably benign 0.02
R0022:Crebbp UTSW 16 3,903,092 (GRCm39) missense probably damaging 1.00
R0029:Crebbp UTSW 16 3,935,307 (GRCm39) missense probably damaging 1.00
R0098:Crebbp UTSW 16 3,909,792 (GRCm39) missense probably damaging 1.00
R0098:Crebbp UTSW 16 3,909,792 (GRCm39) missense probably damaging 1.00
R0125:Crebbp UTSW 16 3,935,105 (GRCm39) splice site probably benign
R0126:Crebbp UTSW 16 3,901,927 (GRCm39) missense possibly damaging 0.94
R0140:Crebbp UTSW 16 3,935,363 (GRCm39) missense probably damaging 1.00
R0705:Crebbp UTSW 16 3,972,874 (GRCm39) missense possibly damaging 0.95
R0801:Crebbp UTSW 16 3,906,140 (GRCm39) missense probably damaging 1.00
R1103:Crebbp UTSW 16 3,901,925 (GRCm39) missense probably damaging 0.97
R1225:Crebbp UTSW 16 3,944,820 (GRCm39) missense probably benign 0.04
R1421:Crebbp UTSW 16 3,942,511 (GRCm39) missense probably damaging 1.00
R1513:Crebbp UTSW 16 3,933,749 (GRCm39) missense probably damaging 1.00
R1531:Crebbp UTSW 16 3,902,381 (GRCm39) missense probably benign 0.04
R1860:Crebbp UTSW 16 3,905,600 (GRCm39) missense possibly damaging 0.68
R1941:Crebbp UTSW 16 3,997,555 (GRCm39) missense probably benign
R1953:Crebbp UTSW 16 3,997,313 (GRCm39) missense probably benign 0.23
R1992:Crebbp UTSW 16 3,946,561 (GRCm39) splice site probably null
R2000:Crebbp UTSW 16 3,902,116 (GRCm39) missense probably damaging 0.98
R2006:Crebbp UTSW 16 3,902,617 (GRCm39) unclassified probably benign
R2022:Crebbp UTSW 16 3,903,683 (GRCm39) missense probably damaging 1.00
R2044:Crebbp UTSW 16 3,902,687 (GRCm39) missense probably benign 0.04
R2185:Crebbp UTSW 16 3,902,002 (GRCm39) missense probably damaging 0.99
R2203:Crebbp UTSW 16 3,956,641 (GRCm39) missense possibly damaging 0.72
R2349:Crebbp UTSW 16 3,956,774 (GRCm39) missense probably damaging 1.00
R2430:Crebbp UTSW 16 3,914,329 (GRCm39) missense probably damaging 1.00
R2438:Crebbp UTSW 16 3,972,722 (GRCm39) missense possibly damaging 0.90
R2842:Crebbp UTSW 16 3,927,062 (GRCm39) missense probably damaging 1.00
R2896:Crebbp UTSW 16 3,956,680 (GRCm39) missense probably damaging 1.00
R2920:Crebbp UTSW 16 3,936,946 (GRCm39) missense probably damaging 0.98
R3118:Crebbp UTSW 16 3,927,062 (GRCm39) missense probably damaging 1.00
R3894:Crebbp UTSW 16 3,913,966 (GRCm39) missense probably benign 0.11
R4177:Crebbp UTSW 16 3,937,663 (GRCm39) missense possibly damaging 0.48
R4692:Crebbp UTSW 16 3,932,727 (GRCm39) missense possibly damaging 0.64
R4790:Crebbp UTSW 16 3,997,983 (GRCm39) missense probably damaging 0.98
R4884:Crebbp UTSW 16 3,906,239 (GRCm39) missense probably damaging 1.00
R4957:Crebbp UTSW 16 3,935,231 (GRCm39) missense probably benign 0.14
R5109:Crebbp UTSW 16 3,906,295 (GRCm39) intron probably benign
R5121:Crebbp UTSW 16 3,911,375 (GRCm39) missense probably damaging 1.00
R5420:Crebbp UTSW 16 3,925,322 (GRCm39) missense probably damaging 1.00
R5455:Crebbp UTSW 16 3,903,831 (GRCm39) missense probably benign 0.45
R5485:Crebbp UTSW 16 3,932,777 (GRCm39) missense probably benign
R5660:Crebbp UTSW 16 3,972,722 (GRCm39) missense possibly damaging 0.90
R5724:Crebbp UTSW 16 3,905,499 (GRCm39) unclassified probably benign
R5771:Crebbp UTSW 16 3,937,636 (GRCm39) missense probably benign 0.03
R5825:Crebbp UTSW 16 3,905,606 (GRCm39) missense probably damaging 0.99
R5919:Crebbp UTSW 16 3,925,991 (GRCm39) missense probably damaging 1.00
R5965:Crebbp UTSW 16 3,905,525 (GRCm39) unclassified probably benign
R6021:Crebbp UTSW 16 3,903,282 (GRCm39) missense probably damaging 1.00
R6146:Crebbp UTSW 16 3,902,487 (GRCm39) nonsense probably null
R6521:Crebbp UTSW 16 3,936,992 (GRCm39) missense probably damaging 0.99
R6571:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6617:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6618:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6634:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6646:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6647:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6766:Crebbp UTSW 16 3,935,364 (GRCm39) missense probably damaging 1.00
R6836:Crebbp UTSW 16 3,997,886 (GRCm39) missense possibly damaging 0.83
R7022:Crebbp UTSW 16 3,935,187 (GRCm39) missense probably damaging 0.98
R7210:Crebbp UTSW 16 3,902,121 (GRCm39) missense possibly damaging 0.95
R7568:Crebbp UTSW 16 3,944,353 (GRCm39) missense probably benign 0.34
R7672:Crebbp UTSW 16 3,902,574 (GRCm39) missense probably benign 0.06
R8145:Crebbp UTSW 16 3,946,389 (GRCm39) missense probably benign 0.03
R8152:Crebbp UTSW 16 3,902,945 (GRCm39) missense possibly damaging 0.95
R8374:Crebbp UTSW 16 3,902,175 (GRCm39) missense probably damaging 0.99
R8392:Crebbp UTSW 16 3,902,145 (GRCm39) missense possibly damaging 0.49
R8679:Crebbp UTSW 16 3,902,322 (GRCm39) missense probably damaging 0.99
R8738:Crebbp UTSW 16 3,936,952 (GRCm39) missense probably benign 0.07
R8756:Crebbp UTSW 16 3,903,767 (GRCm39) missense probably benign 0.01
R8847:Crebbp UTSW 16 3,902,891 (GRCm39) missense probably benign 0.01
R8950:Crebbp UTSW 16 4,031,023 (GRCm39) missense probably damaging 0.98
R8958:Crebbp UTSW 16 4,031,172 (GRCm39) start gained probably benign
R8964:Crebbp UTSW 16 3,909,753 (GRCm39) missense probably damaging 1.00
R8972:Crebbp UTSW 16 3,925,935 (GRCm39) missense probably benign 0.17
R9069:Crebbp UTSW 16 3,903,187 (GRCm39) missense probably benign
R9155:Crebbp UTSW 16 3,914,346 (GRCm39) missense probably damaging 1.00
R9240:Crebbp UTSW 16 3,917,537 (GRCm39) critical splice donor site probably null
R9414:Crebbp UTSW 16 3,925,356 (GRCm39) missense probably damaging 1.00
R9500:Crebbp UTSW 16 3,911,355 (GRCm39) missense probably damaging 0.98
R9549:Crebbp UTSW 16 3,903,111 (GRCm39) missense probably benign 0.03
R9663:Crebbp UTSW 16 3,933,654 (GRCm39) missense probably damaging 0.99
X0012:Crebbp UTSW 16 3,905,629 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCAATTTGCCGGGCTGCTTC -3'
(R):5'- TGTCGCAATGCCAACTGCTCAC -3'

Sequencing Primer
(F):5'- GCTTCCCAGCAGACACTATTG -3'
(R):5'- CGTCTTGCCAGAAGATGAAGC -3'
Posted On 2013-06-11