Incidental Mutation 'R9574:Creb5'
ID 722182
Institutional Source Beutler Lab
Gene Symbol Creb5
Ensembl Gene ENSMUSG00000053007
Gene Name cAMP responsive element binding protein 5
Synonyms D430026C09Rik, Crebpa, 9430076C15Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9574 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 53264255-53677361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53658039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 123 (L123Q)
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 probably benign
Transcript: ENSMUST00000047450
AA Change: L267Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
AA Change: L267Q

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: L274Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
AA Change: L274Q

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: L267Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
AA Change: L267Q

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 unknown
Transcript: ENSMUST00000205120
AA Change: L123Q
SMART Domains Protein: ENSMUSP00000144719
Gene: ENSMUSG00000053007
AA Change: L123Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T A 11: 48,838,496 (GRCm39) E697V probably damaging Het
Actn4 T C 7: 28,594,864 (GRCm39) D805G probably benign Het
Adam2 C T 14: 66,275,071 (GRCm39) S554N probably benign Het
Adra2b A G 2: 127,206,283 (GRCm39) T267A probably benign Het
Apobec4 A T 1: 152,632,415 (GRCm39) T148S probably damaging Het
B4galt1 T A 4: 40,853,766 (GRCm39) M14L probably benign Het
Bok C A 1: 93,616,947 (GRCm39) Q98K probably benign Het
Cacnb4 A T 2: 52,327,016 (GRCm39) L394Q probably damaging Het
Ccar2 T C 14: 70,381,105 (GRCm39) K287E probably benign Het
Cdyl2 T A 8: 117,350,669 (GRCm39) E154V probably benign Het
Cenpn T G 8: 117,660,149 (GRCm39) Y160D probably damaging Het
Cfap20 T C 8: 96,149,514 (GRCm39) Y58C probably benign Het
Cspg4 G A 9: 56,797,342 (GRCm39) V1269M probably damaging Het
Cyp2b19 G T 7: 26,466,353 (GRCm39) K385N probably null Het
Cyp2b19 A T 7: 26,466,352 (GRCm39) K385M probably damaging Het
Ercc2 C A 7: 19,124,060 (GRCm39) D422E probably benign Het
Fbxl12 A G 9: 20,550,109 (GRCm39) V129A possibly damaging Het
Fbxo11 T C 17: 88,321,951 (GRCm39) E84G Het
Fmn1 T C 2: 113,425,402 (GRCm39) L1192S probably damaging Het
Galk2 T C 2: 125,824,979 (GRCm39) F392L probably benign Het
Gas2l3 G A 10: 89,258,135 (GRCm39) H153Y probably damaging Het
Gcn1 A T 5: 115,713,341 (GRCm39) K101N possibly damaging Het
Gmfg C T 7: 28,145,359 (GRCm39) Q101* probably null Het
Gpr108 C T 17: 57,545,039 (GRCm39) C309Y probably damaging Het
H3c8 T C 13: 23,719,761 (GRCm39) L49P probably damaging Het
Hscb A T 5: 110,982,595 (GRCm39) I164N probably damaging Het
Kifc2 T C 15: 76,546,397 (GRCm39) W260R probably damaging Het
Lrp6 T A 6: 134,447,662 (GRCm39) D995V possibly damaging Het
Lrrc1 T A 9: 77,358,708 (GRCm39) I308F probably damaging Het
Map7 C T 10: 20,153,966 (GRCm39) A694V unknown Het
Mapre2 A G 18: 23,965,993 (GRCm39) D68G probably benign Het
Mertk A T 2: 128,593,880 (GRCm39) I295F probably benign Het
Mst1 T A 9: 107,962,053 (GRCm39) C690* probably null Het
Nde1 A G 16: 13,988,345 (GRCm39) E76G probably damaging Het
Nek5 T C 8: 22,564,040 (GRCm39) T597A probably benign Het
Nup210l T C 3: 90,117,693 (GRCm39) F1800L probably benign Het
Or5c1 A G 2: 37,222,148 (GRCm39) I130V possibly damaging Het
Pdpn T A 4: 142,997,101 (GRCm39) D131V probably benign Het
Pgap6 T C 17: 26,337,861 (GRCm39) V415A probably damaging Het
Pot1a T C 6: 25,775,718 (GRCm39) T118A possibly damaging Het
Prom1 A G 5: 44,158,179 (GRCm39) I843T probably benign Het
Prrt3 T C 6: 113,474,587 (GRCm39) T212A probably benign Het
Rabgap1 A G 2: 37,433,246 (GRCm39) probably null Het
Rarb A T 14: 16,574,858 (GRCm38) S53T probably damaging Het
Rnft2 A G 5: 118,375,330 (GRCm39) S140P probably benign Het
Rxfp1 T C 3: 79,563,581 (GRCm39) M362V probably benign Het
Sall2 G A 14: 52,551,617 (GRCm39) T526M probably damaging Het
Scube1 T C 15: 83,501,000 (GRCm39) D598G Het
Sema3f T A 9: 107,566,972 (GRCm39) I186F possibly damaging Het
Shank2 A G 7: 143,622,462 (GRCm39) T199A possibly damaging Het
Sipa1l2 T A 8: 126,169,453 (GRCm39) M1427L probably benign Het
Sis C T 3: 72,828,490 (GRCm39) G1195D probably benign Het
Slc25a39 A T 11: 102,295,390 (GRCm39) H193Q probably benign Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Srgn A C 10: 62,343,444 (GRCm39) L17R probably damaging Het
Stard5 A G 7: 83,281,944 (GRCm39) N34D probably benign Het
Syt8 A T 7: 141,993,203 (GRCm39) D220V probably damaging Het
Tex15 A G 8: 34,064,509 (GRCm39) E1313G probably benign Het
Tmem131l T C 3: 83,868,911 (GRCm39) R155G probably damaging Het
Tmem220 T C 11: 66,916,093 (GRCm39) V30A probably damaging Het
Tollip A G 7: 141,445,731 (GRCm39) I119T probably damaging Het
Treml4 G A 17: 48,571,672 (GRCm39) G25D probably damaging Het
Trim7 T C 11: 48,728,460 (GRCm39) F36S probably damaging Het
Txnrd3 T A 6: 89,640,166 (GRCm39) C293* probably null Het
Utp14b A G 1: 78,643,482 (GRCm39) D460G probably benign Het
Vmn2r41 T A 7: 8,153,329 (GRCm39) N397Y probably benign Het
Vmn2r67 T C 7: 84,786,017 (GRCm39) I663V probably benign Het
Zfp292 T A 4: 34,839,460 (GRCm39) H135L probably damaging Het
Zfp420 C T 7: 29,575,480 (GRCm39) R567* probably null Het
Zfp518b C T 5: 38,830,773 (GRCm39) V411M probably benign Het
Zfp638 T A 6: 83,956,680 (GRCm39) D1762E probably damaging Het
Zfp691 T A 4: 119,028,230 (GRCm39) M1L 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
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
X0065:Creb5 UTSW 6 53,662,386 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCGAAAGTGTGAGTCCTTTTGC -3'
(R):5'- CGAAAGTCTACCTGTGCTTGG -3'

Sequencing Primer
(F):5'- CCATATCCATCACCACTGTGTGTG -3'
(R):5'- AGTCTACCTGTGCTTGGTTGCC -3'
Posted On 2022-08-09