Incidental Mutation 'R7022:Crebbp'
ID 545720
Institutional Source Beutler Lab
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms CBP, KAT3A
MMRRC Submission 045123-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7022 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 3899198-4031864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3935187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 901 (S901T)
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: S939T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: S939T

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: S475T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000205685
Predicted Effect probably damaging
Transcript: ENSMUST00000205765
AA Change: S901T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.0724 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (75/75)
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
Abca8a A T 11: 109,974,326 (GRCm39) S203T probably damaging Het
Adat1 A T 8: 112,716,494 (GRCm39) M76K probably damaging Het
Ankrd33 G C 15: 101,014,780 (GRCm39) V56L probably benign Het
Ascc3 T A 10: 50,592,725 (GRCm39) L1134I possibly damaging Het
C3 T G 17: 57,524,286 (GRCm39) D948A probably damaging Het
Ccdc121rt3 A C 5: 112,503,395 (GRCm39) M103R probably benign Het
Ccdc40 A G 11: 119,122,612 (GRCm39) E138G possibly damaging Het
Cd80 A G 16: 38,306,866 (GRCm39) probably null Het
Cdca7 T A 2: 72,309,873 (GRCm39) probably null Het
Chit1 A G 1: 134,079,030 (GRCm39) S447G probably benign Het
Cmya5 C T 13: 93,205,786 (GRCm39) probably null Het
Cnnm2 A T 19: 46,750,989 (GRCm39) I260F probably damaging Het
Cnnm2 T A 19: 46,847,379 (GRCm39) probably null Het
Col1a2 T C 6: 4,534,639 (GRCm39) L881P unknown Het
Dcun1d2 T C 8: 13,321,637 (GRCm39) Y158C probably damaging Het
Dnhd1 C T 7: 105,370,005 (GRCm39) P4477S probably benign Het
Donson A G 16: 91,478,218 (GRCm39) Y428H probably damaging Het
Dsp G T 13: 38,375,716 (GRCm39) W1167L probably benign Het
Elmo2 C T 2: 165,136,961 (GRCm39) V592M probably damaging Het
Enpp3 T A 10: 24,702,093 (GRCm39) E60D probably damaging Het
Erfl A T 7: 24,631,089 (GRCm39) probably null Het
Fam83b TAAGA T 9: 76,409,394 (GRCm39) probably null Het
Fbxo38 A G 18: 62,669,295 (GRCm39) C52R probably damaging Het
Gm10912 T C 2: 103,897,055 (GRCm39) W65R probably damaging Het
Gm43518 A T 5: 124,074,490 (GRCm39) M44L probably benign Het
Gnb1 T A 4: 155,637,913 (GRCm39) D212E probably damaging Het
Gnl1 A G 17: 36,299,620 (GRCm39) N597S probably damaging Het
Gprin1 T G 13: 54,886,855 (GRCm39) E473A probably benign Het
Ighv1-69 T A 12: 115,586,834 (GRCm39) M100L probably benign Het
Igkv14-100 T C 6: 68,496,193 (GRCm39) S29P probably damaging Het
Ints6 A G 14: 62,951,786 (GRCm39) V232A probably damaging Het
Jup A G 11: 100,270,379 (GRCm39) L376P probably damaging Het
Kdr A T 5: 76,132,920 (GRCm39) Y119* probably null Het
Kif1a T G 1: 92,993,820 (GRCm39) T377P probably benign Het
Lama5 C A 2: 179,822,524 (GRCm39) V2850L probably damaging Het
Lrp2 T C 2: 69,313,552 (GRCm39) Y2393C probably damaging Het
Mfsd13a C T 19: 46,356,763 (GRCm39) Q255* probably null Het
Msh3 A C 13: 92,372,096 (GRCm39) D891E probably damaging Het
Msl2 A G 9: 100,957,335 (GRCm39) N2D possibly damaging Het
Myo19 T C 11: 84,791,373 (GRCm39) L476P probably damaging Het
Nbeal2 G A 9: 110,467,686 (GRCm39) R501W probably damaging Het
Nfasc C A 1: 132,548,787 (GRCm39) K293N probably damaging Het
Npbwr1 A T 1: 5,987,319 (GRCm39) L65Q probably damaging Het
Nrbp1 T A 5: 31,401,825 (GRCm39) D34E probably damaging Het
Nup205 T A 6: 35,220,871 (GRCm39) V1891D probably benign Het
Or51g2 T A 7: 102,623,175 (GRCm39) N8I possibly damaging Het
Or5g29 T A 2: 85,420,942 (GRCm39) D19E probably benign Het
Or5k1b T C 16: 58,581,482 (GRCm39) N19S probably benign Het
Or8g22 G T 9: 38,958,379 (GRCm39) C156* probably null Het
Oscp1 G A 4: 125,976,783 (GRCm39) probably null Het
Pcdhgb7 A G 18: 37,886,086 (GRCm39) T419A probably damaging Het
Pdzph1 T C 17: 59,281,121 (GRCm39) D387G probably benign Het
Phc1 A G 6: 122,311,990 (GRCm39) F56S probably damaging Het
Pik3c2g A G 6: 139,599,061 (GRCm39) E59G possibly damaging Het
Prickle1 G T 15: 93,398,752 (GRCm39) T692K possibly damaging Het
Rbm45 T A 2: 76,206,738 (GRCm39) L250Q probably damaging Het
Ror1 T A 4: 100,265,108 (GRCm39) M194K probably damaging Het
Rrbp1 T A 2: 143,799,722 (GRCm39) probably null Het
Rundc3b T C 5: 8,562,348 (GRCm39) K340R probably null Het
Scn1a T A 2: 66,148,243 (GRCm39) T1101S probably damaging Het
Sdk1 C G 5: 142,080,412 (GRCm39) probably null Het
Skic2 A G 17: 35,064,183 (GRCm39) F501S possibly damaging Het
Slc20a1 T A 2: 129,041,979 (GRCm39) M114K probably damaging Het
Sorl1 A C 9: 41,881,047 (GRCm39) I2158S probably benign Het
Strip1 A T 3: 107,534,111 (GRCm39) F174L probably benign Het
Sucnr1 A T 3: 59,993,699 (GRCm39) I76L probably benign Het
Syt17 C T 7: 118,007,242 (GRCm39) V412I probably benign Het
Tie1 T A 4: 118,346,850 (GRCm39) H18L probably benign Het
Tpp1 T G 7: 105,398,129 (GRCm39) K345Q probably damaging Het
Trcg1 G A 9: 57,148,852 (GRCm39) M141I possibly damaging Het
Trpc4ap T C 2: 155,499,742 (GRCm39) N260S probably benign Het
Vps41 C A 13: 19,026,438 (GRCm39) T512K possibly damaging Het
Vps52 A T 17: 34,178,293 (GRCm39) M147L probably benign Het
Ywhaq A G 12: 21,441,752 (GRCm39) probably benign Het
Zfp619 A G 7: 39,184,387 (GRCm39) N139S 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
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
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'- GCTATAGCATCCTGACAGACAG -3'
(R):5'- ATCCAACGGCACCAGGAATG -3'

Sequencing Primer
(F):5'- ATAAGAGTCTTACTTCCTAGCTCTGG -3'
(R):5'- GGAATGACCCCTCCTCAGC -3'
Posted On 2019-05-13