Incidental Mutation 'R5965:Crebbp'
ID 472053
Institutional Source Beutler Lab
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms CBP, KAT3A
MMRRC Submission 044150-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5965 (G1)
Quality Score 188
Status Validated
Chromosome 16
Chromosomal Location 3899198-4031864 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 3905525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000023165] [ENSMUST00000205344] [ENSMUST00000205765] [ENSMUST00000206098]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023165
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521

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: ENSMUST00000205344
Predicted Effect probably benign
Transcript: ENSMUST00000205765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205945
Predicted Effect probably benign
Transcript: ENSMUST00000206098
Predicted Effect probably benign
Transcript: ENSMUST00000206464
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 98% (80/82)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T A 5: 30,410,637 (GRCm39) T23S probably benign Het
Armc2 A G 10: 41,798,568 (GRCm39) I747T possibly damaging Het
Cacna1c T A 6: 118,579,261 (GRCm39) H1729L probably damaging Het
Cyp4f17 T A 17: 32,743,611 (GRCm39) M326K probably damaging Het
Dchs1 T G 7: 105,405,132 (GRCm39) D2470A probably damaging Het
Ddhd2 T C 8: 26,225,804 (GRCm39) T518A probably damaging Het
Derl2 T C 11: 70,905,378 (GRCm39) T109A probably benign Het
Dnah7b T C 1: 46,402,147 (GRCm39) L3994P probably damaging Het
Dock10 T C 1: 80,546,461 (GRCm39) probably null Het
Dync1h1 T A 12: 110,599,212 (GRCm39) S1856T probably benign Het
Ehd2 T C 7: 15,685,999 (GRCm39) K358E possibly damaging Het
Enpp2 A G 15: 54,746,367 (GRCm39) probably null Het
Esco1 T C 18: 10,593,867 (GRCm39) E473G possibly damaging Het
Exoc5 A G 14: 49,272,388 (GRCm39) F342S probably damaging Het
Fam186a T A 15: 99,842,978 (GRCm39) T1089S probably benign Het
Fanca T C 8: 124,043,149 (GRCm39) D79G possibly damaging Het
Gabrb2 A G 11: 42,517,696 (GRCm39) Y506C probably damaging Het
Galntl6 T C 8: 58,310,565 (GRCm39) T379A probably benign Het
Garin2 T A 12: 78,757,080 (GRCm39) N12K unknown Het
Gm34768 A G 2: 11,913,316 (GRCm39) noncoding transcript Het
Gps2 A G 11: 69,805,620 (GRCm39) E46G possibly damaging Het
Gsdmc T C 15: 63,676,447 (GRCm39) probably null Het
Gys1 C T 7: 45,104,763 (GRCm39) T666I probably benign Het
Hsd17b11 T A 5: 104,169,651 (GRCm39) probably benign Het
Iffo1 T A 6: 125,129,471 (GRCm39) probably benign Het
Ighv1-51 T C 12: 115,095,177 (GRCm39) noncoding transcript Het
Kansl3 T A 1: 36,384,601 (GRCm39) probably null Het
Kdm3a A G 6: 71,598,364 (GRCm39) I174T probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Lair1 T C 7: 4,032,023 (GRCm39) D28G possibly damaging Het
Lama3 A G 18: 12,562,944 (GRCm39) D489G possibly damaging Het
Lamb3 A T 1: 193,025,768 (GRCm39) I1153F probably damaging Het
Lsp1 T A 7: 142,044,161 (GRCm39) probably null Het
Man1a A G 10: 53,809,586 (GRCm39) probably benign Het
Mcam A C 9: 44,047,925 (GRCm39) S57R probably damaging Het
Mrgprf C A 7: 144,861,168 (GRCm39) probably benign Het
Nfia T C 4: 97,999,529 (GRCm39) *499Q probably null Het
Nmbr C A 10: 14,642,554 (GRCm39) R38S probably benign Het
Or12e7 T G 2: 87,288,381 (GRCm39) F291V probably benign Het
Or51a25 C A 7: 102,373,467 (GRCm39) V77L probably benign Het
Or5h23 T C 16: 58,906,666 (GRCm39) Y60C probably damaging Het
P3h1 C T 4: 119,105,424 (GRCm39) H741Y probably benign Het
Parp4 A T 14: 56,861,489 (GRCm39) M941L probably benign Het
Phaf1 T C 8: 105,961,171 (GRCm39) F69L probably damaging Het
Pik3c3 C T 18: 30,431,633 (GRCm39) T331M probably damaging Het
Prkg1 T C 19: 30,701,556 (GRCm39) probably null Het
Qsox2 A T 2: 26,112,233 (GRCm39) V103D probably benign Het
Ranbp1 T C 16: 18,063,092 (GRCm39) T95A probably damaging Het
Ric1 G A 19: 29,548,171 (GRCm39) D280N probably damaging Het
Scd1 A G 19: 44,388,579 (GRCm39) probably null Het
Serpinb3c A G 1: 107,204,653 (GRCm39) I31T probably benign Het
Slc7a11 T A 3: 50,333,593 (GRCm39) Y386F probably benign Het
Smtnl2 A T 11: 72,291,279 (GRCm39) probably null Het
Snx2 G T 18: 53,327,534 (GRCm39) E87* probably null Het
Tars2 A C 3: 95,655,464 (GRCm39) probably null Het
Tax1bp1 C A 6: 52,706,317 (GRCm39) T106N probably damaging Het
Tcof1 A G 18: 60,966,490 (GRCm39) probably null Het
Tenm3 C A 8: 48,681,543 (GRCm39) E2680* probably null Het
Thap7 C T 16: 17,348,611 (GRCm39) probably benign Het
Thoc6 T A 17: 23,889,842 (GRCm39) I23F possibly damaging Het
Tmem185b T G 1: 119,454,294 (GRCm39) Y18* probably null Het
Trav6-1 A C 14: 52,876,254 (GRCm39) Y58S probably damaging Het
Trbv16 A T 6: 41,128,989 (GRCm39) I58F probably benign Het
Ubtfl1 T A 9: 18,320,838 (GRCm39) M122K probably benign Het
Vps13a T C 19: 16,596,392 (GRCm39) probably null Het
Zdhhc24 T G 19: 4,933,778 (GRCm39) D278E probably benign Het
Zfp316 T C 5: 143,250,427 (GRCm39) probably null Het
Zfyve9 T C 4: 108,548,878 (GRCm39) T769A possibly damaging Het
Znhit6 T A 3: 145,284,103 (GRCm39) N96K 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
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
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'- TGCCTCGGTATAGAGCCTGTAG -3'
(R):5'- CTGCTTAGCTGTGACCTCATGG -3'

Sequencing Primer
(F):5'- GCCTGTAGCTGTGGTGGAC -3'
(R):5'- CTGTGACCTCATGGATGGGC -3'
Posted On 2017-03-31