Incidental Mutation 'R6021:Crebbp'
ID 478967
Institutional Source Beutler Lab
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms CBP, KAT3A
MMRRC Submission 044194-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6021 (G1)
Quality Score 223.009
Status Validated
Chromosome 16
Chromosomal Location 3899198-4031864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3903282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1986 (R1986C)
Ref Sequence ENSEMBL: ENSMUSP00000023165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023165] [ENSMUST00000205765]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023165
AA Change: R1986C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: R1986C

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: R1948C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205945
Predicted Effect probably benign
Transcript: ENSMUST00000206464
Meta Mutation Damage Score 0.2239 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A G 4: 123,754,509 (GRCm39) D141G possibly damaging Het
A1bg T C 15: 60,791,713 (GRCm39) E241G possibly damaging Het
Abca13 G A 11: 9,240,465 (GRCm39) W776* probably null Het
Akr1b10 T A 6: 34,369,309 (GRCm39) probably null Het
Aopep A G 13: 63,208,896 (GRCm39) T338A probably damaging Het
Atf7 T C 15: 102,465,908 (GRCm39) D84G probably benign Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Azi2 T A 9: 117,876,487 (GRCm39) M1K probably null Het
Boc T A 16: 44,309,017 (GRCm39) M832L probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacna1s T C 1: 136,034,225 (GRCm39) L1050P probably benign Het
Celsr2 G T 3: 108,308,561 (GRCm39) P1789T probably benign Het
Crtam T A 9: 40,901,477 (GRCm39) I150F probably damaging Het
Crybg1 G T 10: 43,873,534 (GRCm39) S1191R probably damaging Het
D630045J12Rik T C 6: 38,167,552 (GRCm39) T1017A probably benign Het
Dnah10 A G 5: 124,814,048 (GRCm39) E396G probably damaging Het
Enpp5 A T 17: 44,396,210 (GRCm39) Y374F probably benign Het
Fzd4 G A 7: 89,056,942 (GRCm39) A330T probably benign Het
Gabra5 A G 7: 57,157,740 (GRCm39) S25P probably benign Het
Get1 T C 16: 95,946,878 (GRCm39) probably benign Het
Ggps1 T C 13: 14,228,589 (GRCm39) Y198C probably damaging Het
Gm3173 A C 14: 15,728,458 (GRCm39) D39A probably damaging Het
Grm2 T C 9: 106,527,999 (GRCm39) D295G probably damaging Het
H2-T13 T G 17: 36,392,166 (GRCm39) E182A probably damaging Het
Igfbp5 A G 1: 72,902,363 (GRCm39) M208T possibly damaging Het
Ildr2 T A 1: 166,131,173 (GRCm39) M343K possibly damaging Het
Kif19b A T 5: 140,455,434 (GRCm39) M347L probably damaging Het
Loxhd1 A T 18: 77,499,946 (GRCm39) D120V probably damaging Het
Lrp1 T C 10: 127,413,883 (GRCm39) D1175G probably damaging Het
Lrp1b C A 2: 41,234,439 (GRCm39) D1171Y probably benign Het
Lrrc9 A T 12: 72,516,005 (GRCm39) I563F probably damaging Het
Ltbp3 A T 19: 5,803,708 (GRCm39) T798S probably benign Het
Msantd4 T A 9: 4,384,063 (GRCm39) V128E probably benign Het
Mtf2 A G 5: 108,229,003 (GRCm39) I69V possibly damaging Het
Myh10 T A 11: 68,699,688 (GRCm39) S1712T possibly damaging Het
Mylk3 A G 8: 86,091,442 (GRCm39) V121A possibly damaging Het
Ndufaf4 A G 4: 24,901,760 (GRCm39) N100D probably benign Het
Notch2 T C 3: 98,029,288 (GRCm39) F1017S probably damaging Het
Or4a27 G T 2: 88,559,294 (GRCm39) Y216* probably null Het
Or4a80 A C 2: 89,582,465 (GRCm39) S236A probably benign Het
Or4c108 G T 2: 88,803,376 (GRCm39) Y286* probably null Het
P2ry2 T C 7: 100,647,607 (GRCm39) T233A probably benign Het
Paip1 T "TTA,TT" 13: 119,593,671 (GRCm39) probably null Het
Pak1 T C 7: 97,503,670 (GRCm39) S2P probably damaging Het
Pde8b A T 13: 95,162,670 (GRCm39) D817E possibly damaging Het
Pfdn2 C A 1: 171,173,338 (GRCm39) probably benign Het
Pramel28 A T 4: 143,692,336 (GRCm39) C222S probably benign Het
Raver1 A G 9: 20,987,918 (GRCm39) L606P probably damaging Het
Robo3 C T 9: 37,333,829 (GRCm39) W668* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Rxfp2 A G 5: 149,987,202 (GRCm39) N337S possibly damaging Het
Samhd1 T C 2: 156,962,474 (GRCm39) probably null Het
Sardh A G 2: 27,079,655 (GRCm39) V879A probably benign Het
Slc4a4 A T 5: 89,188,261 (GRCm39) probably benign Het
Slc6a11 T C 6: 114,207,012 (GRCm39) L332P probably damaging Het
Tas2r135 T C 6: 42,383,321 (GRCm39) Y287H probably damaging Het
Tlr4 T A 4: 66,759,103 (GRCm39) I632N probably damaging Het
Tmem145 C T 7: 25,008,270 (GRCm39) probably null Het
Trmt61a C A 12: 111,647,411 (GRCm39) F169L probably damaging Het
Trp53tg5 T A 2: 164,313,391 (GRCm39) I95L probably benign Het
Vmn1r85 T C 7: 12,818,616 (GRCm39) E176G probably benign Het
Vmn2r75 T C 7: 85,820,820 (GRCm39) D38G probably benign Het
Vmn2r99 A G 17: 19,598,210 (GRCm39) Y78C probably damaging Het
Zfp964 G T 8: 70,115,742 (GRCm39) S114I unknown 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
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'- CTGCATGGACATTACAGGCC -3'
(R):5'- AGCCTTCACCTGTTAACATGTC -3'

Sequencing Primer
(F):5'- ATGGACATTACAGGCCTGGGC -3'
(R):5'- GTTAACATGTCACCAGCTGGC -3'
Posted On 2017-06-26