Incidental Mutation 'R9549:Crebbp'
ID 720322
Institutional Source Beutler Lab
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms CBP, KAT3A
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9549 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 3899198-4031864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3903111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 2043 (M2043V)
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: M2043V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: M2043V

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 benign
Transcript: ENSMUST00000205765
AA Change: M2005V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000206464
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
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
Acan A G 7: 78,742,076 (GRCm39) Y491C probably damaging Het
B3gnt6 G T 7: 97,843,656 (GRCm39) D101E possibly damaging Het
Bnip5 A T 17: 29,124,647 (GRCm39) H9Q Het
Ccnt1 A G 15: 98,441,574 (GRCm39) S565P probably damaging Het
Ehbp1 T G 11: 22,012,788 (GRCm39) D941A probably benign Het
Fam171b G T 2: 83,643,199 (GRCm39) R36L probably damaging Het
Fam83c T A 2: 155,676,672 (GRCm39) I33L Het
Fbxo15 T C 18: 84,980,805 (GRCm39) V260A possibly damaging Het
Fez1 G A 9: 36,780,211 (GRCm39) G336E possibly damaging Het
Gm7579 CTGTGTG CTGTG 7: 141,765,736 (GRCm39) probably null Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Isoc2a A G 7: 4,895,058 (GRCm39) E162G probably damaging Het
Lrig2 A G 3: 104,398,191 (GRCm39) S313P probably damaging Het
Lrrd1 T A 5: 3,901,473 (GRCm39) S593T probably benign Het
Lrrn1 A G 6: 107,545,978 (GRCm39) Y592C probably damaging Het
Map3k9 T C 12: 81,771,255 (GRCm39) T778A probably benign Het
Mapk14 T A 17: 28,934,415 (GRCm39) V102E probably damaging Het
Maz A G 7: 126,625,578 (GRCm39) F5S unknown Het
Meioc C T 11: 102,556,550 (GRCm39) probably benign Het
Mlec A G 5: 115,288,271 (GRCm39) V195A probably benign Het
Mlh3 T C 12: 85,313,249 (GRCm39) D979G probably benign Het
Mto1 G A 9: 78,368,961 (GRCm39) S541N probably benign Het
Mug1 G A 6: 121,858,762 (GRCm39) G1160E probably damaging Het
Nfkb2 T A 19: 46,298,111 (GRCm39) I496N probably damaging Het
Nr1h5 T C 3: 102,848,337 (GRCm39) D456G probably benign Het
Or5an11 T A 19: 12,246,408 (GRCm39) F271L probably benign Het
Paqr5 A T 9: 61,863,543 (GRCm39) C260S possibly damaging Het
Pip5k1b C A 19: 24,356,413 (GRCm39) C175F probably damaging Het
Pkn1 T C 8: 84,419,474 (GRCm39) E43G probably damaging Het
Pld1 G A 3: 28,125,381 (GRCm39) E432K possibly damaging Het
Plekhb2 A G 1: 34,902,552 (GRCm39) D64G probably benign Het
Plekhh3 T A 11: 101,056,015 (GRCm39) probably null Het
Prex2 A T 1: 11,256,915 (GRCm39) H1209L probably damaging Het
Rlf T C 4: 121,005,320 (GRCm39) Y1330C probably damaging Het
Rmdn2 T G 17: 79,935,339 (GRCm39) S151A Het
Sdk1 A C 5: 141,940,657 (GRCm39) D475A possibly damaging Het
Serpina1e A T 12: 103,917,243 (GRCm39) L142Q possibly damaging Het
Setbp1 T A 18: 78,902,629 (GRCm39) D346V probably benign Het
Smg1 A G 7: 117,795,254 (GRCm39) L431P unknown Het
St13 G A 15: 81,259,063 (GRCm39) A207V possibly damaging Het
Thra T C 11: 98,653,772 (GRCm39) I201T probably benign Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Trpm6 C T 19: 18,853,394 (GRCm39) Q1805* probably null Het
Uxs1 A T 1: 43,810,892 (GRCm39) Y231* probably null Het
Vash1 A T 12: 86,735,870 (GRCm39) D252V probably damaging Het
Vmn1r61 A C 7: 5,614,185 (GRCm39) V43G probably damaging Het
Vmn2r1 A G 3: 63,997,493 (GRCm39) H383R probably benign Het
Vmn2r105 T C 17: 20,448,023 (GRCm39) N267S probably benign Het
Zfp445 T C 9: 122,685,844 (GRCm39) E232G probably 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
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
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'- GTTTGATGAAAGCTGCCATTAGC -3'
(R):5'- CAAATTGAACGTGAGGCCCAG -3'

Sequencing Primer
(F):5'- GCTGCCATTAGCTGTGGG -3'
(R):5'- AATGGCATGCCCCCAGGAC -3'
Posted On 2022-07-18