Incidental Mutation 'R1477:Ctbp2'
ID 164129
Institutional Source Beutler Lab
Gene Symbol Ctbp2
Ensembl Gene ENSMUSG00000030970
Gene Name C-terminal binding protein 2
Synonyms Ribeye, D7Ertd45e, Gtrgeo6
MMRRC Submission 039530-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1477 (G1)
Quality Score 95
Status Not validated
Chromosome 7
Chromosomal Location 132589292-132726083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132600670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 618 (E618G)
Ref Sequence ENSEMBL: ENSMUSP00000130294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033269] [ENSMUST00000124096] [ENSMUST00000165457] [ENSMUST00000166439] [ENSMUST00000168958] [ENSMUST00000169570] [ENSMUST00000172341]
AlphaFold P56546
Predicted Effect possibly damaging
Transcript: ENSMUST00000033269
AA Change: E75G

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033269
Gene: ENSMUSG00000030970
AA Change: E75G

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 36 358 2.9e-31 PFAM
Pfam:2-Hacid_dh_C 139 323 1.7e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165457
Predicted Effect possibly damaging
Transcript: ENSMUST00000166439
AA Change: E50G

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127448
Gene: ENSMUSG00000030970
AA Change: E50G

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 11 333 2.4e-31 PFAM
Pfam:2-Hacid_dh_C 114 298 1.5e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168958
AA Change: E58G

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132892
Gene: ENSMUSG00000030970
AA Change: E58G

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 19 164 6.3e-27 PFAM
Pfam:2-Hacid_dh_C 122 188 8.5e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169570
AA Change: E618G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: E618G

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 579 901 2.8e-31 PFAM
Pfam:2-Hacid_dh_C 682 866 5.6e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172341
AA Change: E75G

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127701
Gene: ENSMUSG00000030970
AA Change: E75G

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 36 177 5.6e-27 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Embryos homozygous for a gene-trapped allele die by E10 exhibiting a small size, axial truncations, a thin neural epithelium, a dilated pericardium, delayed fore- and midbrain development, and defects in heart morphogenesis, placental development and extraembryonic vascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 A C 19: 55,279,904 (GRCm39) D481A probably benign Het
Adam2 A C 14: 66,315,149 (GRCm39) L8R possibly damaging Het
Ajm1 G C 2: 25,469,765 (GRCm39) H49D possibly damaging Het
Arfgef1 A T 1: 10,259,509 (GRCm39) C619S probably damaging Het
Atm A G 9: 53,375,573 (GRCm39) I2082T probably benign Het
Cgrrf1 A G 14: 47,090,895 (GRCm39) I210M probably benign Het
Clec2e A T 6: 129,072,163 (GRCm39) V72E probably benign Het
Cmtr1 T C 17: 29,916,131 (GRCm39) V587A possibly damaging Het
Col1a2 T C 6: 4,539,673 (GRCm39) F1314L unknown Het
Dnaaf6rt G A 1: 31,262,104 (GRCm39) V29M probably benign Het
Dock8 A T 19: 25,072,914 (GRCm39) Y398F possibly damaging Het
Ezh1 A T 11: 101,083,810 (GRCm39) D733E probably damaging Het
Fbxl6 A G 15: 76,421,934 (GRCm39) S202P probably benign Het
Fcgbpl1 C A 7: 27,856,518 (GRCm39) Q2102K probably benign Het
Grid2ip G A 5: 143,361,340 (GRCm39) A191T probably damaging Het
Helz2 T C 2: 180,874,597 (GRCm39) S1966G probably benign Het
Ipmk A G 10: 71,217,607 (GRCm39) K385E probably damaging Het
Itga11 G A 9: 62,662,493 (GRCm39) V489I probably benign Het
Klhl6 T C 16: 19,784,727 (GRCm39) K137R probably benign Het
Meis1 G A 11: 18,831,665 (GRCm39) Q458* probably null Het
Mst1r T C 9: 107,785,523 (GRCm39) S394P probably benign Het
Mus81 G T 19: 5,536,362 (GRCm39) H155Q probably benign Het
Neb G A 2: 52,154,134 (GRCm39) L2326F probably damaging Het
Nf1 C T 11: 79,286,685 (GRCm39) Q162* probably null Het
Nin T C 12: 70,090,958 (GRCm39) E819G possibly damaging Het
Nox4 T C 7: 86,945,074 (GRCm39) V79A probably benign Het
Or11g2 A T 14: 50,856,170 (GRCm39) I164F probably damaging Het
Or13a28 T A 7: 140,218,355 (GRCm39) I247N possibly damaging Het
Or5ae2 T A 7: 84,506,225 (GRCm39) I216N probably damaging Het
Or6d12 A T 6: 116,493,626 (GRCm39) Y296F probably damaging Het
Peg3 T A 7: 6,719,141 (GRCm39) D69V probably damaging Het
Pnp2 A G 14: 51,196,992 (GRCm39) E26G probably benign Het
Pnpt1 T A 11: 29,087,102 (GRCm39) C154S probably benign Het
Ppp1r26 C T 2: 28,342,800 (GRCm39) T810I probably benign Het
Ppp2r5b A G 19: 6,280,257 (GRCm39) S349P probably benign Het
Prdm4 C T 10: 85,740,129 (GRCm39) V424I probably benign Het
Rraga A G 4: 86,494,996 (GRCm39) I281V probably benign Het
Sall1 T C 8: 89,759,510 (GRCm39) E198G probably damaging Het
Serpina9 T C 12: 103,963,362 (GRCm39) D382G possibly damaging Het
Stt3b A G 9: 115,095,260 (GRCm39) V257A probably damaging Het
Taf2 A T 15: 54,925,568 (GRCm39) Y225N possibly damaging Het
Tlr3 A G 8: 45,851,202 (GRCm39) L41P probably damaging Het
Trappc12 A T 12: 28,787,751 (GRCm39) V444E probably benign Het
Trim34a T A 7: 103,897,287 (GRCm39) V117D possibly damaging Het
Ttbk1 A C 17: 46,787,725 (GRCm39) M259R probably benign Het
Ttll12 A G 15: 83,464,303 (GRCm39) V509A probably damaging Het
Ush2a G A 1: 188,581,273 (GRCm39) V3718M probably benign Het
Vps35 T A 8: 86,014,429 (GRCm39) E73D probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) probably benign Het
Other mutations in Ctbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Ctbp2 APN 7 132,592,885 (GRCm39) missense probably damaging 0.98
IGL02615:Ctbp2 APN 7 132,597,076 (GRCm39) missense probably benign 0.34
IGL02626:Ctbp2 APN 7 132,600,940 (GRCm39) missense probably benign 0.12
PIT4802001:Ctbp2 UTSW 7 132,589,974 (GRCm39) missense possibly damaging 0.77
R0068:Ctbp2 UTSW 7 132,591,788 (GRCm39) missense possibly damaging 0.95
R0374:Ctbp2 UTSW 7 132,601,073 (GRCm39) missense possibly damaging 0.89
R0566:Ctbp2 UTSW 7 132,592,876 (GRCm39) missense probably damaging 1.00
R0571:Ctbp2 UTSW 7 132,616,534 (GRCm39) missense probably damaging 1.00
R1247:Ctbp2 UTSW 7 132,596,918 (GRCm39) missense probably benign 0.24
R1292:Ctbp2 UTSW 7 132,616,918 (GRCm39) missense probably damaging 1.00
R1732:Ctbp2 UTSW 7 132,600,653 (GRCm39) missense possibly damaging 0.80
R1807:Ctbp2 UTSW 7 132,616,137 (GRCm39) missense probably benign 0.00
R1865:Ctbp2 UTSW 7 132,592,283 (GRCm39) missense probably benign 0.02
R1951:Ctbp2 UTSW 7 132,616,756 (GRCm39) missense probably benign
R2393:Ctbp2 UTSW 7 132,625,290 (GRCm39) critical splice donor site probably null
R2410:Ctbp2 UTSW 7 132,616,083 (GRCm39) missense probably benign 0.08
R3427:Ctbp2 UTSW 7 132,593,321 (GRCm39) missense probably damaging 1.00
R4004:Ctbp2 UTSW 7 132,593,502 (GRCm39) missense probably benign 0.31
R4243:Ctbp2 UTSW 7 132,600,583 (GRCm39) missense probably benign 0.43
R4754:Ctbp2 UTSW 7 132,625,287 (GRCm39) splice site probably null
R4820:Ctbp2 UTSW 7 132,615,423 (GRCm39) missense probably damaging 0.98
R4947:Ctbp2 UTSW 7 132,601,012 (GRCm39) missense probably damaging 1.00
R4960:Ctbp2 UTSW 7 132,615,967 (GRCm39) missense probably benign 0.00
R4999:Ctbp2 UTSW 7 132,616,378 (GRCm39) missense possibly damaging 0.62
R5340:Ctbp2 UTSW 7 132,615,692 (GRCm39) missense probably benign 0.43
R5593:Ctbp2 UTSW 7 132,600,598 (GRCm39) missense possibly damaging 0.95
R5762:Ctbp2 UTSW 7 132,597,088 (GRCm39) missense probably damaging 1.00
R6913:Ctbp2 UTSW 7 132,616,455 (GRCm39) missense possibly damaging 0.94
R7044:Ctbp2 UTSW 7 132,616,831 (GRCm39) missense possibly damaging 0.71
R7342:Ctbp2 UTSW 7 132,616,041 (GRCm39) missense probably damaging 0.99
R7358:Ctbp2 UTSW 7 132,600,610 (GRCm39) missense probably damaging 1.00
R7376:Ctbp2 UTSW 7 132,615,697 (GRCm39) missense possibly damaging 0.93
R7393:Ctbp2 UTSW 7 132,590,021 (GRCm39) missense probably benign 0.17
R7678:Ctbp2 UTSW 7 132,616,353 (GRCm39) missense probably benign
R7709:Ctbp2 UTSW 7 132,591,789 (GRCm39) missense probably benign
R7900:Ctbp2 UTSW 7 132,616,328 (GRCm39) missense probably benign
R8018:Ctbp2 UTSW 7 132,616,095 (GRCm39) missense probably benign 0.38
R9185:Ctbp2 UTSW 7 132,615,712 (GRCm39) missense probably damaging 0.97
R9258:Ctbp2 UTSW 7 132,597,021 (GRCm39) missense probably damaging 1.00
R9294:Ctbp2 UTSW 7 132,615,961 (GRCm39) missense probably damaging 0.96
R9326:Ctbp2 UTSW 7 132,616,359 (GRCm39) missense probably benign
R9385:Ctbp2 UTSW 7 132,601,069 (GRCm39) missense probably benign 0.14
R9576:Ctbp2 UTSW 7 132,616,198 (GRCm39) missense probably benign 0.00
R9652:Ctbp2 UTSW 7 132,615,933 (GRCm39) missense probably damaging 1.00
R9653:Ctbp2 UTSW 7 132,615,933 (GRCm39) missense probably damaging 1.00
Z1176:Ctbp2 UTSW 7 132,617,019 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TCCTTTAGGAATCAGCCTCCAGGAC -3'
(R):5'- GCCAGCGGATGTCAGTAAACAACAG -3'

Sequencing Primer
(F):5'- GTTCACTGAGCATGGCTCC -3'
(R):5'- GATGTCAGTAAACAACAGTCATCC -3'
Posted On 2014-03-28