Incidental Mutation 'R7254:Creb1'
ID 564116
Institutional Source Beutler Lab
Gene Symbol Creb1
Ensembl Gene ENSMUSG00000025958
Gene Name cAMP responsive element binding protein 1
Synonyms Creb, Creb-1, 2310001E10Rik, 3526402H21Rik
MMRRC Submission 045315-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R7254 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 64571963-64643707 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 64615436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 223 (Q223*)
Ref Sequence ENSEMBL: ENSMUSP00000132860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049932] [ENSMUST00000087366] [ENSMUST00000171164] [ENSMUST00000185594] [ENSMUST00000187811] [ENSMUST00000190348] [ENSMUST00000190876]
AlphaFold Q01147
Predicted Effect probably null
Transcript: ENSMUST00000049932
AA Change: Q277*
SMART Domains Protein: ENSMUSP00000059973
Gene: ENSMUSG00000025958
AA Change: Q277*

DomainStartEndE-ValueType
internal_repeat_1 16 89 5.16e-5 PROSPERO
Pfam:pKID 113 153 7.7e-24 PFAM
low complexity region 162 174 N/A INTRINSIC
internal_repeat_1 184 260 5.16e-5 PROSPERO
BRLZ 281 339 1.25e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000087366
AA Change: Q263*
SMART Domains Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958
AA Change: Q263*

DomainStartEndE-ValueType
internal_repeat_1 16 90 1.46e-5 PROSPERO
Pfam:pKID 99 141 5.3e-24 PFAM
low complexity region 148 160 N/A INTRINSIC
internal_repeat_1 170 247 1.46e-5 PROSPERO
BRLZ 267 325 1.25e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171164
AA Change: Q223*
SMART Domains Protein: ENSMUSP00000132860
Gene: ENSMUSG00000025958
AA Change: Q223*

DomainStartEndE-ValueType
Pfam:pKID 59 101 9e-24 PFAM
low complexity region 108 120 N/A INTRINSIC
BRLZ 227 285 1.25e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185594
AA Change: Q263*
SMART Domains Protein: ENSMUSP00000139995
Gene: ENSMUSG00000025958
AA Change: Q263*

DomainStartEndE-ValueType
internal_repeat_1 16 90 1.46e-5 PROSPERO
Pfam:pKID 99 141 5.3e-24 PFAM
low complexity region 148 160 N/A INTRINSIC
internal_repeat_1 170 247 1.46e-5 PROSPERO
BRLZ 267 325 1.25e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000187811
AA Change: Q263*
SMART Domains Protein: ENSMUSP00000140649
Gene: ENSMUSG00000025958
AA Change: Q263*

DomainStartEndE-ValueType
Pfam:pKID 99 141 3.8e-21 PFAM
low complexity region 148 160 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000190348
AA Change: Q277*
SMART Domains Protein: ENSMUSP00000140112
Gene: ENSMUSG00000025958
AA Change: Q277*

DomainStartEndE-ValueType
internal_repeat_1 16 89 5.16e-5 PROSPERO
Pfam:pKID 113 155 1.2e-23 PFAM
low complexity region 162 174 N/A INTRINSIC
internal_repeat_1 184 260 5.16e-5 PROSPERO
BRLZ 281 339 1.25e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190876
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for alleles lacking some or all isotypes exhibit a range of defects involving circadian rhythms, axonal growth, sensory neuron survival, long-term memory, fear conditioning, body size, respiration, and neonatal viability. [provided by MGI curators]
Allele List at MGI

All alleles(85) : Targeted, knock-out(2) Targeted, other(7) Gene trapped(76)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A T 7: 43,147,623 (GRCm39) D249E probably damaging Het
Acacb A C 5: 114,347,812 (GRCm39) probably null Het
Adnp A G 2: 168,025,918 (GRCm39) V459A probably damaging Het
Arid3b T C 9: 57,704,037 (GRCm39) K304E probably damaging Het
Ash1l G T 3: 88,977,816 (GRCm39) R2713L probably damaging Het
Bmpr1a A C 14: 34,136,720 (GRCm39) D490E probably benign Het
Cacna1g A T 11: 94,323,393 (GRCm39) C1270* probably null Het
Cep295nl G T 11: 118,223,866 (GRCm39) P326Q probably damaging Het
Cfap100 T C 6: 90,383,043 (GRCm39) I377V unknown Het
Ctsc G A 7: 87,958,767 (GRCm39) G349D probably damaging Het
Ddx41 G A 13: 55,681,769 (GRCm39) R311* probably null Het
Dpcd A G 19: 45,565,473 (GRCm39) Q149R probably benign Het
Dse T A 10: 34,060,144 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,226,205 (GRCm39) probably benign Het
Eef2k C T 7: 120,488,488 (GRCm39) H458Y probably benign Het
Gipr A T 7: 18,897,538 (GRCm39) V90E probably damaging Het
Gm14412 A T 2: 177,009,189 (GRCm39) D22E probably damaging Het
Gm21886 A T 18: 80,132,950 (GRCm39) C69* probably null Het
Gm5114 G A 7: 39,058,390 (GRCm39) L410F probably benign Het
Gmip T A 8: 70,269,118 (GRCm39) probably null Het
Gtf2f1 T C 17: 57,314,101 (GRCm39) T128A possibly damaging Het
Hnrnpr A G 4: 136,059,886 (GRCm39) E330G possibly damaging Het
Hoxd9 T A 2: 74,528,718 (GRCm39) W107R probably damaging Het
Iars1 T C 13: 49,876,554 (GRCm39) probably null Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Ifi213 G T 1: 173,421,529 (GRCm39) P120Q probably damaging Het
Il6 A T 5: 30,219,906 (GRCm39) Q94L probably benign Het
Kcnab1 A G 3: 65,226,908 (GRCm39) S196G probably benign Het
Kcnv1 C T 15: 44,976,604 (GRCm39) V228I probably benign Het
Lars2 A G 9: 123,284,028 (GRCm39) T739A possibly damaging Het
Med13 T C 11: 86,210,661 (GRCm39) S494G probably benign Het
Mtrf1 GCCTTC GC 14: 79,660,931 (GRCm39) probably null Het
Myh9 T G 15: 77,650,024 (GRCm39) Q1646P probably damaging Het
Nif3l1 T A 1: 58,489,625 (GRCm39) S171R probably benign Het
Or13n4 A G 7: 106,422,777 (GRCm39) *319Q probably null Het
Or1e1c A G 11: 73,266,201 (GRCm39) I212V probably benign Het
Or1r1 A G 11: 73,874,603 (GRCm39) V277A probably benign Het
Or51f23 A G 7: 102,452,765 (GRCm39) T27A probably benign Het
Or5b113 A T 19: 13,342,475 (GRCm39) D161V probably benign Het
Or6c5b T C 10: 129,245,649 (GRCm39) V138A probably benign Het
Or8c8 T C 9: 38,164,719 (GRCm39) M2T probably benign Het
Pak5 A T 2: 135,958,684 (GRCm39) S135T possibly damaging Het
Prr29 A T 11: 106,265,684 (GRCm39) M1L probably damaging Het
Ptpn13 T A 5: 103,742,502 (GRCm39) V2407E probably damaging Het
Ralgapa1 T A 12: 55,741,978 (GRCm39) H1310L probably damaging Het
Raph1 T C 1: 60,538,767 (GRCm39) S393G unknown Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Ror2 A G 13: 53,272,756 (GRCm39) I303T possibly damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn10a C T 9: 119,447,921 (GRCm39) D1378N probably damaging Het
Serpinc1 T A 1: 160,821,188 (GRCm39) C91S probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spata31d1e T C 13: 59,889,790 (GRCm39) I677V probably benign Het
Tada1 T A 1: 166,216,217 (GRCm39) C139* probably null Het
Tbr1 T A 2: 61,636,386 (GRCm39) V254E probably damaging Het
Timd4 A T 11: 46,734,016 (GRCm39) I340F probably benign Het
Tubb2a T C 13: 34,258,515 (GRCm39) Y425C probably damaging Het
Zfp292 A T 4: 34,819,476 (GRCm39) M287K probably damaging Het
Other mutations in Creb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Creb1 APN 1 64,609,284 (GRCm39) splice site probably benign
IGL01991:Creb1 APN 1 64,598,913 (GRCm39) missense probably benign
IGL03137:Creb1 APN 1 64,615,374 (GRCm39) missense possibly damaging 0.95
IGL03408:Creb1 APN 1 64,615,491 (GRCm39) splice site probably null
1mM(1):Creb1 UTSW 1 64,613,330 (GRCm39) nonsense probably null
R0028:Creb1 UTSW 1 64,609,307 (GRCm39) missense probably damaging 0.96
R0069:Creb1 UTSW 1 64,615,367 (GRCm39) missense possibly damaging 0.91
R0069:Creb1 UTSW 1 64,615,367 (GRCm39) missense possibly damaging 0.91
R0506:Creb1 UTSW 1 64,609,426 (GRCm39) missense probably damaging 1.00
R1834:Creb1 UTSW 1 64,590,109 (GRCm39) nonsense probably null
R1835:Creb1 UTSW 1 64,590,109 (GRCm39) nonsense probably null
R1836:Creb1 UTSW 1 64,590,109 (GRCm39) nonsense probably null
R7716:Creb1 UTSW 1 64,605,420 (GRCm39) missense possibly damaging 0.94
R7934:Creb1 UTSW 1 64,609,372 (GRCm39) missense probably benign 0.01
R8275:Creb1 UTSW 1 64,597,687 (GRCm39) missense probably benign 0.20
R9005:Creb1 UTSW 1 64,605,478 (GRCm39) critical splice donor site probably null
R9431:Creb1 UTSW 1 64,615,413 (GRCm39) missense probably damaging 0.99
R9758:Creb1 UTSW 1 64,598,909 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGATAGAGTCCCATTCCCTGTTTCC -3'
(R):5'- TAGCAAGATCCACTAATTCTACCAG -3'

Sequencing Primer
(F):5'- ATTCCCTGTTTCCCTTTTAATCTAAG -3'
(R):5'- TTCTACCAGAAAAAGAAAATCAATGC -3'
Posted On 2019-06-26