Incidental Mutation 'R2185:Crebbp'
ID 237844
Institutional Source Beutler Lab
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms CBP, KAT3A
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2185 (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 3902002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 2374 (N2374K)
Ref Sequence ENSEMBL: ENSMUSP00000146330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023165] [ENSMUST00000205765]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023165
AA Change: N2412K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: N2412K

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 probably damaging
Transcript: ENSMUST00000205765
AA Change: N2374K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205945
Predicted Effect probably benign
Transcript: ENSMUST00000206464
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S 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
R0140:Crebbp UTSW 16 3,935,363 (GRCm39) missense probably damaging 1.00
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
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'- AGTCACAGTCCCATCTAGGC -3'
(R):5'- TAACCAGGTGCGATCTCCAG -3'

Sequencing Primer
(F):5'- GAGCCCAAATGCCTGAATTTTC -3'
(R):5'- ATCTCCAGCCCCTGTGCAG -3'
Posted On 2014-10-02