Incidental Mutation 'R2044:Crebbp'
ID 221718
Institutional Source Beutler Lab
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms KAT3A, CBP
MMRRC Submission 040051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2044 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4081328-4213997 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4084823 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 2184 (T2184I)
Ref Sequence ENSEMBL: ENSMUSP00000023165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023165] [ENSMUST00000205765]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023165
AA Change: T2184I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: T2184I

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 benign
Transcript: ENSMUST00000205765
AA Change: T2146I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205945
Predicted Effect probably benign
Transcript: ENSMUST00000206464
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (92/94)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik G A 17: 36,978,094 (GRCm38) probably benign Het
Abhd15 A G 11: 77,518,338 (GRCm38) T293A probably benign Het
Aldh1l1 C T 6: 90,562,665 (GRCm38) P192L probably benign Het
Aldoart1 T G 4: 72,852,542 (GRCm38) I10L probably benign Het
Ankhd1 G A 18: 36,645,113 (GRCm38) G1653D probably benign Het
Ankk1 A C 9: 49,419,364 (GRCm38) probably null Het
Astn1 A G 1: 158,600,502 (GRCm38) T748A possibly damaging Het
Bmp7 C A 2: 172,939,915 (GRCm38) R52L possibly damaging Het
Ccdc33 G A 9: 58,031,112 (GRCm38) P859S possibly damaging Het
Ccny A G 18: 9,449,644 (GRCm38) S10P probably damaging Het
Cdc6 C A 11: 98,910,461 (GRCm38) F179L probably benign Het
Cdc7 T A 5: 106,983,132 (GRCm38) V491E probably benign Het
Cdh23 G T 10: 60,596,730 (GRCm38) S138R possibly damaging Het
Cenpc1 T C 5: 86,037,755 (GRCm38) H299R probably benign Het
Ciart A T 3: 95,878,701 (GRCm38) M354K probably benign Het
Clasrp G T 7: 19,586,715 (GRCm38) probably benign Het
Col4a3 G A 1: 82,696,319 (GRCm38) G1132E unknown Het
Cyp2r1 A C 7: 114,550,405 (GRCm38) M458R probably damaging Het
Cyp7a1 C A 4: 6,275,492 (GRCm38) R27M probably null Het
Ddhd2 A G 8: 25,752,165 (GRCm38) F116L probably damaging Het
Dgkd G A 1: 87,927,691 (GRCm38) R685K probably benign Het
Dnah2 A G 11: 69,524,240 (GRCm38) S223P probably benign Het
Exph5 A T 9: 53,372,679 (GRCm38) R353S possibly damaging Het
F11 C A 8: 45,252,118 (GRCm38) V129F probably benign Het
F830045P16Rik A T 2: 129,459,397 (GRCm38) S454T possibly damaging Het
Fam124a T C 14: 62,587,207 (GRCm38) I50T probably damaging Het
Fam20c T C 5: 138,756,227 (GRCm38) probably null Het
Fam234b A G 6: 135,226,914 (GRCm38) T405A probably benign Het
Fbh1 C A 2: 11,762,970 (GRCm38) V356L possibly damaging Het
Flywch1 G A 17: 23,762,313 (GRCm38) Q132* probably null Het
Foxo6 T C 4: 120,286,969 (GRCm38) D95G probably benign Het
Ggt5 T C 10: 75,604,087 (GRCm38) F174S probably damaging Het
Gm7104 G A 12: 88,285,781 (GRCm38) noncoding transcript Het
Gpr155 A G 2: 73,373,633 (GRCm38) L279P probably damaging Het
H2-T23 A G 17: 36,032,191 (GRCm38) L98P probably damaging Het
Heatr5a A G 12: 51,955,403 (GRCm38) V250A probably benign Het
Heyl A T 4: 123,241,363 (GRCm38) I50F probably damaging Het
Hist4h4 G C 6: 136,804,103 (GRCm38) R93G possibly damaging Het
Ifitm10 A T 7: 142,356,034 (GRCm38) S179R probably damaging Het
Isg15 A T 4: 156,199,792 (GRCm38) I93N probably benign Het
Itga10 G A 3: 96,657,690 (GRCm38) V985I probably benign Het
Itga10 C T 3: 96,651,738 (GRCm38) probably benign Het
Kcnt2 T C 1: 140,375,154 (GRCm38) I144T probably benign Het
Klk1 A C 7: 44,229,034 (GRCm38) K104T possibly damaging Het
Lemd3 C A 10: 120,933,442 (GRCm38) R654L probably damaging Het
Lmod1 A T 1: 135,364,387 (GRCm38) M327L probably benign Het
Lonrf2 T C 1: 38,807,050 (GRCm38) E347G probably benign Het
Ltbp1 A G 17: 75,276,432 (GRCm38) Y409C probably damaging Het
Mecom A T 3: 29,980,592 (GRCm38) Y312N probably damaging Het
Mmut A G 17: 40,941,451 (GRCm38) T295A probably benign Het
Mrgprb3 C T 7: 48,643,734 (GRCm38) C23Y possibly damaging Het
Nadk C A 4: 155,585,441 (GRCm38) L194I probably damaging Het
Naxd A G 8: 11,509,510 (GRCm38) I182V probably benign Het
Nbeal1 T A 1: 60,319,687 (GRCm38) I1176K probably damaging Het
Nol4l C A 2: 153,529,521 (GRCm38) R81L possibly damaging Het
Odad3 T G 9: 21,991,858 (GRCm38) T419P possibly damaging Het
Or4k47 T A 2: 111,621,814 (GRCm38) R87W probably benign Het
Or8g36 A T 9: 39,511,378 (GRCm38) M114K probably damaging Het
Or9s15 G T 1: 92,596,969 (GRCm38) R150L probably benign Het
Pcdh18 A G 3: 49,754,940 (GRCm38) V642A probably benign Het
Pdzk1 G A 3: 96,855,848 (GRCm38) probably benign Het
Per3 C T 4: 151,033,938 (GRCm38) V233I probably benign Het
Pisd G A 5: 32,764,796 (GRCm38) P267S possibly damaging Het
Prm1 T A 16: 10,796,493 (GRCm38) probably benign Het
Ptprj A G 2: 90,463,095 (GRCm38) V548A probably damaging Het
Ranbp3 G A 17: 56,673,367 (GRCm38) probably benign Het
Raver2 T A 4: 101,102,812 (GRCm38) V163D probably damaging Het
Rbm14 A T 19: 4,803,877 (GRCm38) I159N possibly damaging Het
Rfx6 G A 10: 51,718,126 (GRCm38) V381I probably benign Het
Rhobtb1 T C 10: 69,272,863 (GRCm38) probably benign Het
Rpl28-ps4 T A 6: 117,213,895 (GRCm38) noncoding transcript Het
Rsph10b A G 5: 143,967,250 (GRCm38) probably null Het
Rspo4 A G 2: 151,873,093 (GRCm38) K217E unknown Het
Scgb2b27 G A 7: 34,013,285 (GRCm38) A44V possibly damaging Het
Sec14l2 G A 11: 4,111,435 (GRCm38) probably benign Het
Sec31b T C 19: 44,536,156 (GRCm38) N101D probably benign Het
Sema6a A T 18: 47,306,429 (GRCm38) C9* probably null Het
Septin5 A C 16: 18,623,012 (GRCm38) L331R probably benign Het
Slc16a11 C A 11: 70,215,651 (GRCm38) Y238* probably null Het
Slc25a12 T C 2: 71,312,548 (GRCm38) T210A probably benign Het
Slc35f1 A T 10: 53,089,347 (GRCm38) Y286F probably damaging Het
Szt2 A T 4: 118,376,448 (GRCm38) L2225* probably null Het
Thap12 T C 7: 98,716,620 (GRCm38) L665P probably damaging Het
Tpsb2 T A 17: 25,367,724 (GRCm38) W237R probably damaging Het
Tyk2 T C 9: 21,120,341 (GRCm38) D451G probably damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm38) N231K probably benign Het
Vmn1r225 A T 17: 20,502,590 (GRCm38) T98S possibly damaging Het
Vmn1r87 A T 7: 13,131,821 (GRCm38) S180T probably benign Het
Vmn2r6 A G 3: 64,537,841 (GRCm38) V821A probably damaging Het
Zfp689 C A 7: 127,444,826 (GRCm38) G211C probably damaging Het
Zfp827 A G 8: 79,076,236 (GRCm38) D479G probably benign Het
Zfp995 A C 17: 21,880,594 (GRCm38) F220V probably damaging Het
Other mutations in Crebbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Crebbp APN 16 4,179,552 (GRCm38) missense probably benign
IGL01366:Crebbp APN 16 4,126,506 (GRCm38) missense probably damaging 1.00
IGL01457:Crebbp APN 16 4,124,768 (GRCm38) missense probably damaging 0.99
IGL01713:Crebbp APN 16 4,128,648 (GRCm38) missense possibly damaging 0.79
IGL02382:Crebbp APN 16 4,108,070 (GRCm38) missense probably damaging 1.00
IGL02513:Crebbp APN 16 4,126,605 (GRCm38) splice site probably null
IGL02519:Crebbp APN 16 4,101,593 (GRCm38) missense possibly damaging 0.80
IGL02533:Crebbp APN 16 4,107,432 (GRCm38) missense probably damaging 1.00
IGL02582:Crebbp APN 16 4,084,277 (GRCm38) missense possibly damaging 0.87
IGL02600:Crebbp APN 16 4,155,018 (GRCm38) missense probably benign
IGL02716:Crebbp APN 16 4,114,878 (GRCm38) missense probably benign 0.22
IGL02736:Crebbp APN 16 4,154,910 (GRCm38) missense probably benign 0.00
IGL03349:Crebbp APN 16 4,117,358 (GRCm38) missense possibly damaging 0.69
enchanting UTSW 16 4,119,806 (GRCm38) missense possibly damaging 0.92
Intriguing UTSW 16 4,180,022 (GRCm38) missense possibly damaging 0.83
Rivetting UTSW 16 4,091,889 (GRCm38) missense probably damaging 1.00
Stunning UTSW 16 4,091,928 (GRCm38) missense probably damaging 1.00
Suggestive UTSW 16 4,108,127 (GRCm38) missense probably damaging 1.00
PIT4418001:Crebbp UTSW 16 4,114,825 (GRCm38) missense probably benign 0.02
R0022:Crebbp UTSW 16 4,085,228 (GRCm38) missense probably damaging 1.00
R0029:Crebbp UTSW 16 4,117,443 (GRCm38) missense probably damaging 1.00
R0098:Crebbp UTSW 16 4,091,928 (GRCm38) missense probably damaging 1.00
R0098:Crebbp UTSW 16 4,091,928 (GRCm38) missense probably damaging 1.00
R0125:Crebbp UTSW 16 4,117,241 (GRCm38) splice site probably benign
R0126:Crebbp UTSW 16 4,084,063 (GRCm38) missense possibly damaging 0.94
R0140:Crebbp UTSW 16 4,117,499 (GRCm38) missense probably damaging 1.00
R0546:Crebbp UTSW 16 4,085,807 (GRCm38) missense probably damaging 0.99
R0705:Crebbp UTSW 16 4,155,010 (GRCm38) missense possibly damaging 0.95
R0801:Crebbp UTSW 16 4,088,276 (GRCm38) missense probably damaging 1.00
R1103:Crebbp UTSW 16 4,084,061 (GRCm38) missense probably damaging 0.97
R1225:Crebbp UTSW 16 4,126,956 (GRCm38) missense probably benign 0.04
R1421:Crebbp UTSW 16 4,124,647 (GRCm38) missense probably damaging 1.00
R1513:Crebbp UTSW 16 4,115,885 (GRCm38) missense probably damaging 1.00
R1531:Crebbp UTSW 16 4,084,517 (GRCm38) missense probably benign 0.04
R1860:Crebbp UTSW 16 4,087,736 (GRCm38) missense possibly damaging 0.68
R1941:Crebbp UTSW 16 4,179,691 (GRCm38) missense probably benign
R1953:Crebbp UTSW 16 4,179,449 (GRCm38) missense probably benign 0.23
R1992:Crebbp UTSW 16 4,128,697 (GRCm38) splice site probably null
R2000:Crebbp UTSW 16 4,084,252 (GRCm38) missense probably damaging 0.98
R2006:Crebbp UTSW 16 4,084,753 (GRCm38) unclassified probably benign
R2022:Crebbp UTSW 16 4,085,819 (GRCm38) missense probably damaging 1.00
R2185:Crebbp UTSW 16 4,084,138 (GRCm38) missense probably damaging 0.99
R2203:Crebbp UTSW 16 4,138,777 (GRCm38) missense possibly damaging 0.72
R2349:Crebbp UTSW 16 4,138,910 (GRCm38) missense probably damaging 1.00
R2430:Crebbp UTSW 16 4,096,465 (GRCm38) missense probably damaging 1.00
R2438:Crebbp UTSW 16 4,154,858 (GRCm38) missense possibly damaging 0.90
R2842:Crebbp UTSW 16 4,109,198 (GRCm38) missense probably damaging 1.00
R2896:Crebbp UTSW 16 4,138,816 (GRCm38) missense probably damaging 1.00
R2920:Crebbp UTSW 16 4,119,082 (GRCm38) missense probably damaging 0.98
R3118:Crebbp UTSW 16 4,109,198 (GRCm38) missense probably damaging 1.00
R3894:Crebbp UTSW 16 4,096,102 (GRCm38) missense probably benign 0.11
R4177:Crebbp UTSW 16 4,119,799 (GRCm38) missense possibly damaging 0.48
R4692:Crebbp UTSW 16 4,114,863 (GRCm38) missense possibly damaging 0.64
R4790:Crebbp UTSW 16 4,180,119 (GRCm38) missense probably damaging 0.98
R4884:Crebbp UTSW 16 4,088,375 (GRCm38) missense probably damaging 1.00
R4957:Crebbp UTSW 16 4,117,367 (GRCm38) missense probably benign 0.14
R5109:Crebbp UTSW 16 4,088,431 (GRCm38) intron probably benign
R5121:Crebbp UTSW 16 4,093,511 (GRCm38) missense probably damaging 1.00
R5420:Crebbp UTSW 16 4,107,458 (GRCm38) missense probably damaging 1.00
R5455:Crebbp UTSW 16 4,085,967 (GRCm38) missense probably benign 0.45
R5485:Crebbp UTSW 16 4,114,913 (GRCm38) missense probably benign
R5660:Crebbp UTSW 16 4,154,858 (GRCm38) missense possibly damaging 0.90
R5724:Crebbp UTSW 16 4,087,635 (GRCm38) unclassified probably benign
R5771:Crebbp UTSW 16 4,119,772 (GRCm38) missense probably benign 0.03
R5825:Crebbp UTSW 16 4,087,742 (GRCm38) missense probably damaging 0.99
R5919:Crebbp UTSW 16 4,108,127 (GRCm38) missense probably damaging 1.00
R5965:Crebbp UTSW 16 4,087,661 (GRCm38) unclassified probably benign
R6021:Crebbp UTSW 16 4,085,418 (GRCm38) missense probably damaging 1.00
R6146:Crebbp UTSW 16 4,084,623 (GRCm38) nonsense probably null
R6521:Crebbp UTSW 16 4,119,128 (GRCm38) missense probably damaging 0.99
R6571:Crebbp UTSW 16 4,119,806 (GRCm38) missense possibly damaging 0.92
R6617:Crebbp UTSW 16 4,119,806 (GRCm38) missense possibly damaging 0.92
R6618:Crebbp UTSW 16 4,119,806 (GRCm38) missense possibly damaging 0.92
R6634:Crebbp UTSW 16 4,119,806 (GRCm38) missense possibly damaging 0.92
R6646:Crebbp UTSW 16 4,119,806 (GRCm38) missense possibly damaging 0.92
R6647:Crebbp UTSW 16 4,119,806 (GRCm38) missense possibly damaging 0.92
R6766:Crebbp UTSW 16 4,117,500 (GRCm38) missense probably damaging 1.00
R6836:Crebbp UTSW 16 4,180,022 (GRCm38) missense possibly damaging 0.83
R7022:Crebbp UTSW 16 4,117,323 (GRCm38) missense probably damaging 0.98
R7210:Crebbp UTSW 16 4,084,257 (GRCm38) missense possibly damaging 0.95
R7568:Crebbp UTSW 16 4,126,489 (GRCm38) missense probably benign 0.34
R7672:Crebbp UTSW 16 4,084,710 (GRCm38) missense probably benign 0.06
R8145:Crebbp UTSW 16 4,128,525 (GRCm38) missense probably benign 0.03
R8152:Crebbp UTSW 16 4,085,081 (GRCm38) missense possibly damaging 0.95
R8374:Crebbp UTSW 16 4,084,311 (GRCm38) missense probably damaging 0.99
R8392:Crebbp UTSW 16 4,084,281 (GRCm38) missense possibly damaging 0.49
R8679:Crebbp UTSW 16 4,084,458 (GRCm38) missense probably damaging 0.99
R8738:Crebbp UTSW 16 4,119,088 (GRCm38) missense probably benign 0.07
R8756:Crebbp UTSW 16 4,085,903 (GRCm38) missense probably benign 0.01
R8847:Crebbp UTSW 16 4,085,027 (GRCm38) missense probably benign 0.01
R8950:Crebbp UTSW 16 4,213,159 (GRCm38) missense probably damaging 0.98
R8958:Crebbp UTSW 16 4,213,308 (GRCm38) start gained probably benign
R8964:Crebbp UTSW 16 4,091,889 (GRCm38) missense probably damaging 1.00
R8972:Crebbp UTSW 16 4,108,071 (GRCm38) missense probably benign 0.17
R9069:Crebbp UTSW 16 4,085,323 (GRCm38) missense probably benign
R9155:Crebbp UTSW 16 4,096,482 (GRCm38) missense probably damaging 1.00
R9240:Crebbp UTSW 16 4,099,673 (GRCm38) critical splice donor site probably null
R9414:Crebbp UTSW 16 4,107,492 (GRCm38) missense probably damaging 1.00
R9500:Crebbp UTSW 16 4,093,491 (GRCm38) missense probably damaging 0.98
R9549:Crebbp UTSW 16 4,085,247 (GRCm38) missense probably benign 0.03
R9663:Crebbp UTSW 16 4,115,790 (GRCm38) missense probably damaging 0.99
X0012:Crebbp UTSW 16 4,087,765 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTTGTCCCATTGGAGCAG -3'
(R):5'- TTCAATCCCAGCCTGGTATGC -3'

Sequencing Primer
(F):5'- TGCATGGCTGGGGCATAAC -3'
(R):5'- TATGCAGCCCCAGCCTG -3'
Posted On 2014-08-25