Incidental Mutation 'R1951:Ctbp2'
ID 217298
Institutional Source Beutler Lab
Gene Symbol Ctbp2
Ensembl Gene ENSMUSG00000030970
Gene Name C-terminal binding protein 2
Synonyms Ribeye, D7Ertd45e, Gtrgeo6
MMRRC Submission 039965-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1951 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 132589292-132726083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132616756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 60 (S60P)
Ref Sequence ENSEMBL: ENSMUSP00000130294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033269] [ENSMUST00000124096] [ENSMUST00000163601] [ENSMUST00000165457] [ENSMUST00000169570] [ENSMUST00000166439] [ENSMUST00000167218] [ENSMUST00000172341] [ENSMUST00000168958] [ENSMUST00000170459]
AlphaFold P56546
Predicted Effect probably benign
Transcript: ENSMUST00000033269
SMART Domains Protein: ENSMUSP00000033269
Gene: ENSMUSG00000030970

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: ENSMUST00000163601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164739
SMART Domains Protein: ENSMUSP00000130157
Gene: ENSMUSG00000030970

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164896
SMART Domains Protein: ENSMUSP00000129195
Gene: ENSMUSG00000030970

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165457
AA Change: S60P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000169570
AA Change: S60P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: S60P

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 noncoding transcript
Transcript: ENSMUST00000166400
SMART Domains Protein: ENSMUSP00000131868
Gene: ENSMUSG00000030970

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171727
SMART Domains Protein: ENSMUSP00000127123
Gene: ENSMUSG00000030970

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165534
SMART Domains Protein: ENSMUSP00000132311
Gene: ENSMUSG00000030970

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166439
SMART Domains Protein: ENSMUSP00000127448
Gene: ENSMUSG00000030970

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 probably benign
Transcript: ENSMUST00000167218
Predicted Effect probably benign
Transcript: ENSMUST00000172341
SMART Domains Protein: ENSMUSP00000127701
Gene: ENSMUSG00000030970

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 36 177 5.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168958
SMART Domains Protein: ENSMUSP00000132892
Gene: ENSMUSG00000030970

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 benign
Transcript: ENSMUST00000170459
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 98% (84/86)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,960,655 (GRCm39) R706C probably damaging Het
Adcy3 T C 12: 4,258,624 (GRCm39) F847S probably benign Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Arhgap28 G A 17: 68,208,336 (GRCm39) A44V probably benign Het
Asap3 C T 4: 135,954,767 (GRCm39) R60* probably null Het
Baz1b T A 5: 135,245,593 (GRCm39) N347K probably benign Het
Best2 T A 8: 85,737,858 (GRCm39) N179I possibly damaging Het
Bfar C T 16: 13,519,970 (GRCm39) S276L probably damaging Het
Bloc1s3 A G 7: 19,241,483 (GRCm39) V15A possibly damaging Het
Borcs5 A G 6: 134,687,230 (GRCm39) H196R unknown Het
Calhm3 A G 19: 47,140,256 (GRCm39) L279P probably benign Het
Cand1 A T 10: 119,043,925 (GRCm39) probably benign Het
Car15 T C 16: 17,655,269 (GRCm39) D57G possibly damaging Het
Casp12 G A 9: 5,348,959 (GRCm39) probably null Het
Cd93 T C 2: 148,283,778 (GRCm39) T523A probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Ckap5 A G 2: 91,386,837 (GRCm39) probably benign Het
Col6a5 G A 9: 105,814,156 (GRCm39) R619W unknown Het
Colec12 G A 18: 9,859,975 (GRCm39) probably null Het
Crmp1 G A 5: 37,430,699 (GRCm39) V222I possibly damaging Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dhx36 T C 3: 62,391,694 (GRCm39) I551V probably damaging Het
Dlg5 T A 14: 24,206,537 (GRCm39) probably benign Het
Dlgap1 A T 17: 71,068,306 (GRCm39) I300F probably damaging Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dnah6 T A 6: 73,061,704 (GRCm39) R2794* probably null Het
Fcgr1 G A 3: 96,194,386 (GRCm39) T167I probably damaging Het
Fgl1 G T 8: 41,650,387 (GRCm39) F187L probably benign Het
Fras1 T A 5: 96,860,242 (GRCm39) V2096E probably benign Het
Gm10647 A G 9: 66,705,762 (GRCm39) probably benign Het
Gm14226 G A 2: 154,866,255 (GRCm39) D71N possibly damaging Het
Grip2 A T 6: 91,760,829 (GRCm39) I284N probably damaging Het
Hirip3 A G 7: 126,462,038 (GRCm39) R19G probably damaging Het
Ift70b A G 2: 75,767,586 (GRCm39) L389P probably damaging Het
Irx5 A G 8: 93,086,438 (GRCm39) N174D probably damaging Het
Itgal A G 7: 126,929,317 (GRCm39) D1078G probably damaging Het
Khdc3 T C 9: 73,010,519 (GRCm39) V123A possibly damaging Het
Klhl13 A G X: 23,127,820 (GRCm39) probably benign Het
Klhl42 T C 6: 146,993,321 (GRCm39) S98P probably damaging Het
Lrp5 T C 19: 3,670,298 (GRCm39) N602S possibly damaging Het
Lrrd1 A T 5: 3,901,488 (GRCm39) I598F probably damaging Het
Ltbp1 A G 17: 75,458,372 (GRCm39) T318A probably benign Het
Mfsd6 A G 1: 52,748,517 (GRCm39) F116S probably damaging Het
Ncam1 T C 9: 49,456,492 (GRCm39) I486V probably benign Het
Nptx1 A G 11: 119,434,006 (GRCm39) probably null Het
Nrg1 T C 8: 32,408,221 (GRCm39) Y4C probably damaging Het
Nsf G A 11: 103,773,702 (GRCm39) R271* probably null Het
Or5d39 A G 2: 87,979,641 (GRCm39) S241P possibly damaging Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8k18 G C 2: 86,085,440 (GRCm39) T199S probably benign Het
Or8k21 T A 2: 86,145,504 (GRCm39) N42I probably damaging Het
Or8k24 A T 2: 86,215,855 (GRCm39) H302Q probably benign Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pdia4 A G 6: 47,780,813 (GRCm39) Y212H probably damaging Het
Pgr A G 9: 8,946,954 (GRCm39) probably benign Het
Pitpnm3 G T 11: 71,965,450 (GRCm39) H112N possibly damaging Het
Ppargc1b G T 18: 61,431,848 (GRCm39) T1000K possibly damaging Het
Psd3 C A 8: 68,416,139 (GRCm39) C586F probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Rabep2 A T 7: 126,037,736 (GRCm39) R169S possibly damaging Het
Rad21l T C 2: 151,497,179 (GRCm39) R309G probably benign Het
Rbm12 T C 2: 155,939,133 (GRCm39) R380G probably damaging Het
Selp A G 1: 163,954,081 (GRCm39) N127S probably benign Het
Slc12a2 A G 18: 58,012,467 (GRCm39) T197A possibly damaging Het
Slc22a18 C T 7: 143,029,984 (GRCm39) T17I probably damaging Het
Sptbn4 T C 7: 27,065,868 (GRCm39) E2026G possibly damaging Het
Srf A T 17: 46,862,633 (GRCm39) M285K possibly damaging Het
Tanc1 T C 2: 59,622,156 (GRCm39) V425A possibly damaging Het
Tle4 A T 19: 14,493,721 (GRCm39) probably null Het
Tmem132e A G 11: 82,335,908 (GRCm39) R905G possibly damaging Het
Tmem200c A T 17: 69,147,983 (GRCm39) I189F probably damaging Het
Trappc13 T C 13: 104,311,150 (GRCm39) Q87R probably benign Het
Trpm7 A T 2: 126,673,219 (GRCm39) D511E probably damaging Het
Ttn A T 2: 76,632,634 (GRCm39) I14140N possibly damaging Het
Virma A G 4: 11,513,907 (GRCm39) D587G probably benign Het
Vmn1r72 A G 7: 11,403,731 (GRCm39) L239P probably damaging Het
Vmn2r68 A G 7: 84,883,102 (GRCm39) F217L probably damaging Het
Vps13c T C 9: 67,881,041 (GRCm39) probably null Het
Vrtn T C 12: 84,695,973 (GRCm39) V241A probably damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zranb3 A T 1: 127,927,136 (GRCm39) V343D probably damaging 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
R1477:Ctbp2 UTSW 7 132,600,670 (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
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'- ATAGAAGGGAGGCTCCTTGG -3'
(R):5'- AAAGAAAGGCTTCCTCCCTGC -3'

Sequencing Primer
(F):5'- AGGGAGGCTCCTTGGGTACC -3'
(R):5'- GTAGTCATTTGCTCTGCCAATG -3'
Posted On 2014-08-01