Incidental Mutation 'R0054:Creb5'
ID 17075
Institutional Source Beutler Lab
Gene Symbol Creb5
Ensembl Gene ENSMUSG00000053007
Gene Name cAMP responsive element binding protein 5
Synonyms D430026C09Rik, Crebpa, 9430076C15Rik
MMRRC Submission 038348-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0054 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 53264255-53677361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53424642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 128 (M128V)
Ref Sequence ENSEMBL: ENSMUSP00000144979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047450] [ENSMUST00000203487] [ENSMUST00000203528]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047450
AA Change: M128V

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
AA Change: M128V

DomainStartEndE-ValueType
low complexity region 117 178 N/A INTRINSIC
low complexity region 196 211 N/A INTRINSIC
BRLZ 222 286 1.91e-20 SMART
low complexity region 304 318 N/A INTRINSIC
low complexity region 329 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203487
AA Change: M135V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
AA Change: M135V

DomainStartEndE-ValueType
ZnF_C2H2 16 40 7.9e-5 SMART
low complexity region 268 329 N/A INTRINSIC
low complexity region 347 362 N/A INTRINSIC
BRLZ 373 437 8e-23 SMART
low complexity region 455 469 N/A INTRINSIC
low complexity region 480 495 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203528
AA Change: M128V

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
AA Change: M128V

DomainStartEndE-ValueType
ZnF_C2H2 9 33 7.9e-5 SMART
low complexity region 261 322 N/A INTRINSIC
low complexity region 340 355 N/A INTRINSIC
BRLZ 366 430 8e-23 SMART
low complexity region 448 462 N/A INTRINSIC
low complexity region 473 488 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204245
Meta Mutation Damage Score 0.0798 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.6%
  • 10x: 76.3%
  • 20x: 59.9%
Validation Efficiency 96% (91/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,547,500 (GRCm39) probably null Het
Apoa4 A G 9: 46,153,822 (GRCm39) D141G probably benign Het
Atg9a T C 1: 75,161,143 (GRCm39) Y701C probably damaging Het
Baz2b C T 2: 59,762,510 (GRCm39) R922Q probably damaging Het
Bmal2 T G 6: 146,731,216 (GRCm39) V507G probably benign Het
Brms1 T A 19: 5,096,727 (GRCm39) C136* probably null Het
Ccdc180 T A 4: 45,890,900 (GRCm39) V24E probably benign Het
Clec4f C T 6: 83,629,911 (GRCm39) V216M probably benign Het
Cpd C G 11: 76,681,664 (GRCm39) G1160R probably damaging Het
Ddb2 G T 2: 91,065,165 (GRCm39) Q87K probably benign Het
Defb41 A G 1: 18,321,471 (GRCm39) Y48H probably damaging Het
Dido1 T C 2: 180,303,267 (GRCm39) N1546D probably benign Het
Dmac1 A G 4: 75,196,337 (GRCm39) V51A possibly damaging Het
Dnajb11 C T 16: 22,681,369 (GRCm39) A49V probably damaging Het
Dnajc14 G A 10: 128,643,448 (GRCm39) D457N probably damaging Het
Eif3a C A 19: 60,755,264 (GRCm39) D973Y unknown Het
Farsb T A 1: 78,439,011 (GRCm39) K395* probably null Het
Fem1b A G 9: 62,704,082 (GRCm39) S393P probably damaging Het
Fsip2 A C 2: 82,817,299 (GRCm39) N4344T possibly damaging Het
Gphn A G 12: 78,684,277 (GRCm39) S558G probably damaging Het
Gpr142 C A 11: 114,689,755 (GRCm39) H2Q probably benign Het
Grhpr T C 4: 44,988,915 (GRCm39) probably benign Het
Grik3 C A 4: 125,517,368 (GRCm39) N70K probably damaging Het
Gsap T A 5: 21,455,933 (GRCm39) probably benign Het
Iars1 T A 13: 49,846,611 (GRCm39) C237S probably damaging Het
Ighv1-9 A T 12: 114,547,602 (GRCm39) F7L probably benign Het
Ints8 A G 4: 11,204,595 (GRCm39) probably benign Het
Kcnj16 G T 11: 110,915,549 (GRCm39) W70C probably damaging Het
Kpna6 T C 4: 129,551,251 (GRCm39) M85V probably benign Het
Kri1 G A 9: 21,186,661 (GRCm39) S447L probably damaging Het
Lrp1b A G 2: 40,632,829 (GRCm39) V3528A probably benign Het
Lrrc46 A T 11: 96,929,605 (GRCm39) L77Q probably damaging Het
Mrpl44 T C 1: 79,757,212 (GRCm39) L219S probably damaging Het
Ms4a14 T C 19: 11,281,303 (GRCm39) I418M probably benign Het
Myo7a T C 7: 97,714,905 (GRCm39) D112G probably damaging Het
Ncoa3 A G 2: 165,897,098 (GRCm39) T630A possibly damaging Het
Nsl1 T C 1: 190,814,381 (GRCm39) L194P probably damaging Het
Or5ac23 T C 16: 59,149,428 (GRCm39) Y148C possibly damaging Het
Or8u10 T C 2: 85,915,705 (GRCm39) K139E probably benign Het
Pde4d A G 13: 109,876,955 (GRCm39) S159G probably benign Het
Pi4ka T C 16: 17,142,978 (GRCm39) R845G probably null Het
Pld1 A G 3: 28,150,033 (GRCm39) probably benign Het
Psd T A 19: 46,311,781 (GRCm39) I300F probably damaging Het
Ptprz1 T A 6: 22,986,195 (GRCm39) W332R probably damaging Het
Rnf212 T A 5: 108,893,530 (GRCm39) M70L possibly damaging Het
Sema4f A G 6: 82,896,674 (GRCm39) probably benign Het
Sez6 C A 11: 77,844,699 (GRCm39) T7K possibly damaging Het
Skint2 T C 4: 112,502,660 (GRCm39) I290T probably benign Het
Slc5a3 T A 16: 91,874,522 (GRCm39) I193N probably damaging Het
Snip1 T A 4: 124,966,633 (GRCm39) Y354* probably null Het
Tmco5 A G 2: 116,717,768 (GRCm39) Y200C probably damaging Het
Tmem87b T A 2: 128,673,361 (GRCm39) probably benign Het
Trim60 T C 8: 65,453,973 (GRCm39) E92G probably benign Het
Ttn A T 2: 76,626,804 (GRCm39) D13067E possibly damaging Het
Ufl1 A T 4: 25,269,087 (GRCm39) I168N probably damaging Het
Zfp385c G A 11: 100,520,782 (GRCm39) P293S probably benign Het
Zfp473 T A 7: 44,383,899 (GRCm39) S144C probably damaging Het
Other mutations in Creb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Creb5 APN 6 53,581,443 (GRCm39) splice site probably benign
IGL02475:Creb5 APN 6 53,670,909 (GRCm39) missense probably damaging 0.98
IGL02663:Creb5 APN 6 53,657,946 (GRCm39) missense probably damaging 0.99
R0452:Creb5 UTSW 6 53,581,527 (GRCm39) missense possibly damaging 0.94
R4580:Creb5 UTSW 6 53,581,519 (GRCm39) missense possibly damaging 0.46
R4809:Creb5 UTSW 6 53,587,411 (GRCm39) missense probably null 0.71
R4957:Creb5 UTSW 6 53,670,907 (GRCm39) critical splice acceptor site probably null
R5375:Creb5 UTSW 6 53,658,002 (GRCm39) missense possibly damaging 0.79
R6552:Creb5 UTSW 6 53,662,369 (GRCm39) missense probably damaging 0.99
R6616:Creb5 UTSW 6 53,662,295 (GRCm39) missense possibly damaging 0.96
R6679:Creb5 UTSW 6 53,662,454 (GRCm39) missense possibly damaging 0.51
R6745:Creb5 UTSW 6 53,581,517 (GRCm39) missense probably benign 0.03
R7428:Creb5 UTSW 6 53,658,143 (GRCm39) missense unknown
R7581:Creb5 UTSW 6 53,658,222 (GRCm39) missense probably damaging 0.99
R8301:Creb5 UTSW 6 53,658,018 (GRCm39) missense possibly damaging 0.83
R9574:Creb5 UTSW 6 53,658,039 (GRCm39) missense unknown
X0065:Creb5 UTSW 6 53,662,386 (GRCm39) missense probably damaging 0.96
Posted On 2013-01-20