Incidental Mutation 'R0140:Crebbp'
ID 22281
Institutional Source Beutler Lab
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms CBP, KAT3A
MMRRC Submission 038425-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0140 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 16
Chromosomal Location 3899198-4031864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3935363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 842 (T842N)
Ref Sequence ENSEMBL: ENSMUSP00000146330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023165] [ENSMUST00000205344] [ENSMUST00000205765]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023165
AA Change: T880N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: T880N

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 probably damaging
Transcript: ENSMUST00000205344
AA Change: T416N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000205685
Predicted Effect probably damaging
Transcript: ENSMUST00000205765
AA Change: T842N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.0743 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (79/81)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
9330161L09Rik T C 12: 103,373,587 (GRCm39) probably benign Het
Abca2 T G 2: 25,328,097 (GRCm39) probably null Het
Adgrf3 T C 5: 30,401,379 (GRCm39) K13R probably benign Het
Arhgap15 C A 2: 44,212,779 (GRCm39) F416L probably damaging Het
Arhgef26 C G 3: 62,355,666 (GRCm39) T746R probably benign Het
Aspm C T 1: 139,408,379 (GRCm39) T2422I probably benign Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
AY358078 T A 14: 52,063,399 (GRCm39) D348E probably benign Het
Blnk A T 19: 40,928,668 (GRCm39) S285T probably damaging Het
Calr3 C T 8: 73,188,732 (GRCm39) probably benign Het
Camsap2 A T 1: 136,208,120 (GRCm39) V1124D probably benign Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Ccdc69 C A 11: 54,941,325 (GRCm39) C196F possibly damaging Het
Cdhr3 T G 12: 33,130,412 (GRCm39) N141T probably benign Het
Cdk4 T C 10: 126,900,214 (GRCm39) V37A probably damaging Het
Celsr2 C T 3: 108,305,249 (GRCm39) R2110K probably benign Het
Clcn7 A G 17: 25,372,728 (GRCm39) Y437C probably damaging Het
Col6a6 A G 9: 105,579,474 (GRCm39) F1917S probably damaging Het
Cps1 T G 1: 67,219,275 (GRCm39) S872A probably benign Het
Dennd2d G A 3: 106,399,799 (GRCm39) V234I probably benign Het
Fam227b T C 2: 125,966,523 (GRCm39) M130V possibly damaging Het
Fbxw24 G T 9: 109,434,482 (GRCm39) L373I possibly damaging Het
Fubp3 T C 2: 31,498,196 (GRCm39) Y359H probably damaging Het
Gm19684 T C 17: 36,438,319 (GRCm39) probably benign Het
Hrnr C T 3: 93,238,800 (GRCm39) Q3013* probably null Het
Il12rb1 T C 8: 71,272,415 (GRCm39) probably benign Het
Lepr A T 4: 101,625,264 (GRCm39) D473V probably damaging Het
Myof A T 19: 37,940,004 (GRCm39) Y820* probably null Het
Nfil3 G A 13: 53,121,681 (GRCm39) Q408* probably null Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Npbwr1 A C 1: 5,986,840 (GRCm39) Y225D probably damaging Het
Nrip3 T C 7: 109,361,022 (GRCm39) probably benign Het
Ntrk1 A C 3: 87,685,875 (GRCm39) L749R probably damaging Het
Or10ag53 A G 2: 87,082,969 (GRCm39) I229M probably damaging Het
Or2b11 A G 11: 59,461,804 (GRCm39) L254P probably damaging Het
Or4c126 T A 2: 89,824,463 (GRCm39) V242D probably damaging Het
Or52a24 A G 7: 103,381,349 (GRCm39) D72G probably damaging Het
Or6c211 G T 10: 129,505,557 (GRCm39) T277N probably damaging Het
Paox A T 7: 139,713,971 (GRCm39) T244S probably damaging Het
Pcdhb9 T A 18: 37,536,014 (GRCm39) D669E possibly damaging Het
Pggt1b A G 18: 46,391,150 (GRCm39) probably null Het
Phkg1 T A 5: 129,893,449 (GRCm39) I334F probably benign Het
Phtf1 A T 3: 103,894,876 (GRCm39) R208W probably null Het
Pnliprp2 A T 19: 58,754,795 (GRCm39) I280F probably benign Het
Pnma8a A G 7: 16,694,147 (GRCm39) M1V probably null Het
Prcp A G 7: 92,577,819 (GRCm39) T328A probably damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Racgap1 A T 15: 99,521,532 (GRCm39) N541K probably benign Het
Rnf103 T A 6: 71,486,315 (GRCm39) F315L possibly damaging Het
Septin2 A G 1: 93,429,361 (GRCm39) R237G probably damaging Het
Setd6 T A 8: 96,442,737 (GRCm39) L58Q probably damaging Het
Sipa1l1 G A 12: 82,442,974 (GRCm39) V755I probably damaging Het
Slc16a12 G T 19: 34,650,104 (GRCm39) probably benign Het
Slk G A 19: 47,610,774 (GRCm39) D815N probably damaging Het
Stx1a T C 5: 135,074,439 (GRCm39) probably benign Het
Tbc1d15 T A 10: 115,056,124 (GRCm39) I283F probably damaging Het
Tenm4 T C 7: 96,545,259 (GRCm39) I2425T possibly damaging Het
Tle1 G A 4: 72,038,422 (GRCm39) H702Y probably damaging Het
Tmc6 A G 11: 117,657,077 (GRCm39) probably benign Het
Tmem268 G A 4: 63,496,096 (GRCm39) R179H possibly damaging Het
Tmem9 A G 1: 135,961,900 (GRCm39) K165R probably damaging Het
Trpm6 A G 19: 18,796,558 (GRCm39) probably null Het
Tufm C T 7: 126,089,003 (GRCm39) P88S probably damaging Het
Ubqln1 A G 13: 58,341,103 (GRCm39) I216T probably damaging Het
Urad T G 5: 147,259,141 (GRCm39) M1L probably benign Het
Utp6 A G 11: 79,847,551 (GRCm39) probably benign Het
Vav2 C T 2: 27,163,688 (GRCm39) probably benign Het
Vmn2r55 G T 7: 12,402,104 (GRCm39) Q395K possibly damaging Het
Wwox T G 8: 115,433,027 (GRCm39) V231G probably damaging Het
Zfp646 T A 7: 127,482,678 (GRCm39) N1618K probably benign Het
Zzef1 G A 11: 72,790,377 (GRCm39) M2110I possibly damaging 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
R0546:Crebbp UTSW 16 3,903,671 (GRCm39) missense probably damaging 0.99
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'- CTCTGACCAAGGGAAACTGTAAGCC -3'
(R):5'- TCCCTAACCCTCTGAACATGCTGG -3'

Sequencing Primer
(F):5'- gctcacaagataagcctgcc -3'
(R):5'- CCAGTGACACAGTCACCATT -3'
Posted On 2013-04-16