Incidental Mutation 'R6616:Creb5'
ID 524050
Institutional Source Beutler Lab
Gene Symbol Creb5
Ensembl Gene ENSMUSG00000053007
Gene Name cAMP responsive element binding protein 5
Synonyms D430026C09Rik, Crebpa, 9430076C15Rik
MMRRC Submission 044739-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6616 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 53264255-53677361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 53662295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 197 (Q197H)
Ref Sequence ENSEMBL: ENSMUSP00000144719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047450] [ENSMUST00000203487] [ENSMUST00000203528] [ENSMUST00000205120]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000047450
AA Change: Q341H

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
AA Change: Q341H

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 possibly damaging
Transcript: ENSMUST00000203487
AA Change: Q348H

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
AA Change: Q348H

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 possibly damaging
Transcript: ENSMUST00000203528
AA Change: Q341H

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
AA Change: Q341H

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 possibly damaging
Transcript: ENSMUST00000205120
AA Change: Q197H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144719
Gene: ENSMUSG00000053007
AA Change: Q197H

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
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,603,509 (GRCm39) H567L probably damaging Het
Adck1 T A 12: 88,427,958 (GRCm39) M525K unknown Het
Alpi T C 1: 87,028,836 (GRCm39) I74V possibly damaging Het
Ccdc168 C A 1: 44,100,634 (GRCm39) V155L possibly damaging Het
Cyp2b13 A G 7: 25,785,306 (GRCm39) K225R probably benign Het
Dock1 G A 7: 134,710,221 (GRCm39) E1143K possibly damaging Het
Eef2kmt T A 16: 5,065,346 (GRCm39) D287V probably damaging Het
Eif2ak4 T A 2: 118,285,326 (GRCm39) Y1046* probably null Het
Fbxw10 T A 11: 62,743,850 (GRCm39) M252K probably benign Het
Fnip2 A C 3: 79,388,189 (GRCm39) H847Q probably benign Het
Frmd3 A T 4: 74,105,725 (GRCm39) D457V probably damaging Het
Gm13941 T G 2: 110,931,520 (GRCm39) E37D unknown Het
Grin1 T A 2: 25,182,122 (GRCm39) I870F possibly damaging Het
Grin2b A C 6: 135,709,549 (GRCm39) D1332E probably benign Het
Gtpbp4 G A 13: 9,039,141 (GRCm39) T201I possibly damaging Het
Heatr4 A G 12: 84,026,904 (GRCm39) C118R probably benign Het
Hltf T A 3: 20,163,651 (GRCm39) probably null Het
Hmcn1 C T 1: 150,599,008 (GRCm39) probably null Het
Hpd A T 5: 123,310,123 (GRCm39) L367Q probably damaging Het
Htr1b A G 9: 81,514,487 (GRCm39) I40T probably benign Het
Il16 A G 7: 83,295,684 (GRCm39) S464P probably benign Het
Lrp1b T A 2: 40,589,643 (GRCm39) D75V unknown Het
Map3k4 A T 17: 12,490,231 (GRCm39) L400Q probably damaging Het
Mcts2 T A 2: 152,529,582 (GRCm39) I131N possibly damaging Het
Mroh2b A C 15: 4,982,764 (GRCm39) I1528L probably benign Het
Muc4 A C 16: 32,602,378 (GRCm39) D3467A possibly damaging Het
Mypn A T 10: 63,005,091 (GRCm39) C339S probably damaging Het
Ncoa5 A T 2: 164,852,483 (GRCm39) Y130* probably null Het
Or11g27 T A 14: 50,771,364 (GRCm39) I165N probably benign Het
Or2y11 T A 11: 49,442,868 (GRCm39) V98E probably damaging Het
Pcdha4 A G 18: 37,086,953 (GRCm39) T379A probably benign Het
Pkp4 C G 2: 59,180,896 (GRCm39) Y720* probably null Het
Prl5a1 C T 13: 28,333,839 (GRCm39) T114I probably benign Het
Rnd3 A G 2: 51,024,169 (GRCm39) S137P probably damaging Het
Rtel1 G A 2: 180,994,579 (GRCm39) E680K possibly damaging Het
Sbsn T A 7: 30,452,704 (GRCm39) V573D possibly damaging Het
Scaf8 A T 17: 3,218,330 (GRCm39) L233F unknown Het
Sec23a A T 12: 59,043,941 (GRCm39) I241K possibly damaging Het
Secisbp2l A T 2: 125,610,146 (GRCm39) S258T probably damaging Het
Skint4 A G 4: 111,975,427 (GRCm39) H121R possibly damaging Het
Sptbn1 T A 11: 30,074,030 (GRCm39) E1346D probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stpg4 A G 17: 87,730,124 (GRCm39) Y74H probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmc4 A G 7: 3,674,057 (GRCm39) V374A possibly damaging Het
Unc45b G A 11: 82,802,645 (GRCm39) R47Q probably damaging Het
Xirp1 A G 9: 119,848,080 (GRCm39) S268P probably damaging Het
Zfp990 A T 4: 145,263,715 (GRCm39) I238L probably benign Het
Zswim5 A G 4: 116,843,938 (GRCm39) D992G possibly 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
R0054:Creb5 UTSW 6 53,424,642 (GRCm39) missense probably benign 0.27
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
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
Predicted Primers PCR Primer
(F):5'- GGTCTCTTGCTCTCACAAGTG -3'
(R):5'- CCTGAAGCTGCATGTTTGTC -3'

Sequencing Primer
(F):5'- CAAGTGTGATTTCATTGCTAATCTC -3'
(R):5'- GTCTGGGTGAGCTCTTCAG -3'
Posted On 2018-06-22