Incidental Mutation 'R4820:Ctbp2'
ID 370138
Institutional Source Beutler Lab
Gene Symbol Ctbp2
Ensembl Gene ENSMUSG00000030970
Gene Name C-terminal binding protein 2
Synonyms Ribeye, D7Ertd45e, Gtrgeo6
MMRRC Submission 042436-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4820 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 132589292-132726083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 132615423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 504 (L504R)
Ref Sequence ENSEMBL: ENSMUSP00000130294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033269] [ENSMUST00000124096] [ENSMUST00000163601] [ENSMUST00000165457] [ENSMUST00000169570] [ENSMUST00000166439] [ENSMUST00000168958] [ENSMUST00000172341] [ENSMUST00000170459] [ENSMUST00000167218]
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
Predicted Effect probably damaging
Transcript: ENSMUST00000169570
AA Change: L504R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: L504R

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: 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 noncoding transcript
Transcript: ENSMUST00000166400
SMART Domains Protein: ENSMUSP00000131868
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: 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: ENSMUST00000172341
SMART Domains Protein: ENSMUSP00000127701
Gene: ENSMUSG00000030970

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 36 177 5.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170459
Predicted Effect probably benign
Transcript: ENSMUST00000167218
Meta Mutation Damage Score 0.1175 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 96% (104/108)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,481 (GRCm39) noncoding transcript Het
5730455P16Rik A T 11: 80,266,346 (GRCm39) S132T possibly damaging Het
Aadacl3 T A 4: 144,184,527 (GRCm39) H77L probably damaging Het
Actr5 T A 2: 158,467,426 (GRCm39) V122D probably damaging Het
Adamts7 A G 9: 90,071,739 (GRCm39) D678G possibly damaging Het
Alpk1 T A 3: 127,464,708 (GRCm39) D1190V probably benign Het
Apbb1ip A T 2: 22,765,265 (GRCm39) N649Y unknown Het
Atp6v0a1 A G 11: 100,933,776 (GRCm39) I522V probably benign Het
Brd10 T C 19: 29,695,809 (GRCm39) N1228S possibly damaging Het
Cars1 T C 7: 143,124,301 (GRCm39) D375G probably damaging Het
Catspere1 A T 1: 177,687,441 (GRCm39) noncoding transcript Het
Ccdc87 A G 19: 4,890,579 (GRCm39) D357G probably damaging Het
Cd101 A T 3: 100,929,471 (GRCm39) S8T probably benign Het
Cfap65 C T 1: 74,966,791 (GRCm39) A299T probably benign Het
Cic T C 7: 24,971,157 (GRCm39) V296A possibly damaging Het
Col7a1 T A 9: 108,797,675 (GRCm39) S1686T possibly damaging Het
Cttnbp2nl T C 3: 104,918,640 (GRCm39) K67E probably benign Het
Cyp2c50 C T 19: 40,102,024 (GRCm39) P480S probably damaging Het
Dcdc5 A C 2: 106,166,420 (GRCm39) noncoding transcript Het
Defb2 G T 8: 22,333,317 (GRCm39) E31* probably null Het
Dhrs1 T A 14: 55,977,083 (GRCm39) N244I possibly damaging Het
Dop1b A G 16: 93,589,978 (GRCm39) I134V probably benign Het
Eif1ad11 A T 12: 87,994,158 (GRCm39) I129F unknown Het
Etl4 A G 2: 20,811,496 (GRCm39) D1193G possibly damaging Het
Ezh1 A C 11: 101,094,594 (GRCm39) S399R probably damaging Het
Fam161a T C 11: 22,970,076 (GRCm39) S26P probably damaging Het
Fcgbp C A 7: 27,813,383 (GRCm39) S2306Y probably damaging Het
Fras1 T C 5: 96,876,512 (GRCm39) I2415T probably benign Het
Gas2l3 A G 10: 89,252,907 (GRCm39) L246P probably damaging Het
Gdf15 C T 8: 71,082,246 (GRCm39) V287M probably damaging Het
Gm7742 T C 17: 21,420,235 (GRCm39) noncoding transcript Het
Grin2d T C 7: 45,507,363 (GRCm39) D446G probably damaging Het
Hemk1 A G 9: 107,205,385 (GRCm39) F107L probably benign Het
Hmgcr C T 13: 96,796,700 (GRCm39) G197S probably damaging Het
Ift52 G A 2: 162,873,108 (GRCm39) G207D probably benign Het
Il17re A G 6: 113,442,816 (GRCm39) T275A probably benign Het
Iqcf3 T C 9: 106,430,788 (GRCm39) probably benign Het
Kcna1 A G 6: 126,619,099 (GRCm39) I407T probably damaging Het
Kcnrg T A 14: 61,845,386 (GRCm39) M142K probably benign Het
Lhx9 C A 1: 138,766,105 (GRCm39) V237L probably benign Het
Lipo3 A C 19: 33,560,497 (GRCm39) I56S probably damaging Het
Loxhd1 C G 18: 77,472,663 (GRCm39) P1060R probably damaging Het
Map2k4 A C 11: 65,587,201 (GRCm39) probably benign Het
Methig1 A G 15: 100,251,416 (GRCm39) K109R possibly damaging Het
Mmrn1 G A 6: 60,950,027 (GRCm39) V326I probably benign Het
Myo15a G A 11: 60,367,741 (GRCm39) R167H probably damaging Het
Ncoa7 G A 10: 30,524,472 (GRCm39) T142M probably damaging Het
Nfkb2 C A 19: 46,296,493 (GRCm39) Q254K probably damaging Het
Nherf1 A G 11: 115,070,918 (GRCm39) E290G probably benign Het
Nol6 G T 4: 41,121,508 (GRCm39) P278Q probably damaging Het
Nptxr T A 15: 79,677,027 (GRCm39) D285V probably damaging Het
Oosp3 T C 19: 11,688,997 (GRCm39) W82R probably damaging Het
Or6b3 A T 1: 92,438,812 (GRCm39) *313K probably null Het
Or6n1 A G 1: 173,916,742 (GRCm39) I45M possibly damaging Het
Pa2g4 G T 10: 128,395,199 (GRCm39) T322K probably damaging Het
Parp16 C A 9: 65,145,175 (GRCm39) F291L probably damaging Het
Pdzd9 A T 7: 120,267,619 (GRCm39) D65E probably damaging Het
Pgap3 A G 11: 98,281,300 (GRCm39) W238R probably damaging Het
Pgf G A 12: 85,218,538 (GRCm39) H67Y probably benign Het
Pik3cb T C 9: 98,955,679 (GRCm39) T413A probably benign Het
Plcxd2 A T 16: 45,800,700 (GRCm39) C175S probably benign Het
Pou2f1 A T 1: 165,719,517 (GRCm39) probably benign Het
Ppfia1 T G 7: 144,052,106 (GRCm39) N846T probably benign Het
Ppid T A 3: 79,502,504 (GRCm39) probably null Het
Prkcq G A 2: 11,231,797 (GRCm39) probably null Het
Ptgds T C 2: 25,359,058 (GRCm39) K66E probably benign Het
Ptpmt1 A G 2: 90,748,283 (GRCm39) noncoding transcript Het
Rab3il1 G A 19: 10,004,034 (GRCm39) G51D probably benign Het
Rdx T C 9: 51,974,891 (GRCm39) V9A probably damaging Het
Rpl7l1 T C 17: 47,089,014 (GRCm39) N239S probably benign Het
Rrbp1 C A 2: 143,806,685 (GRCm39) A978S possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGCCGGCGGCG 7: 97,229,126 (GRCm39) probably benign Het
Scn3a A T 2: 65,291,622 (GRCm39) I1708N probably damaging Het
Serinc1 A G 10: 57,401,466 (GRCm39) I109T possibly damaging Het
Shroom1 G A 11: 53,355,966 (GRCm39) V339I probably benign Het
Slc30a8 T A 15: 52,169,880 (GRCm39) C36S probably benign Het
Slco1b2 A G 6: 141,631,158 (GRCm39) I597M probably benign Het
Snx27 A G 3: 94,427,518 (GRCm39) F228S probably damaging Het
Spata31f1a T A 4: 42,851,815 (GRCm39) I114F probably damaging Het
Speer4e2 G T 5: 15,026,225 (GRCm39) T144K probably benign Het
Stim1 T A 7: 102,064,571 (GRCm39) F214I probably damaging Het
Svep1 T C 4: 58,082,664 (GRCm39) T1987A probably benign Het
Tamm41 A G 6: 115,002,378 (GRCm39) I18T possibly damaging Het
Tmem150b T A 7: 4,726,871 (GRCm39) D79V probably damaging Het
Tmem167 T A 13: 90,252,548 (GRCm39) I68N probably benign Het
Traf3 A G 12: 111,227,204 (GRCm39) E339G possibly damaging Het
Tspan12 G A 6: 21,795,660 (GRCm39) P177S probably damaging Het
Ttn A G 2: 76,783,562 (GRCm39) I810T probably benign Het
Ulk1 T C 5: 110,939,996 (GRCm39) T407A probably benign Het
Uroc1 G A 6: 90,334,600 (GRCm39) probably null Het
Vmn2r-ps69 T C 7: 84,959,584 (GRCm39) noncoding transcript Het
Wdr59 T C 8: 112,207,446 (GRCm39) N476S probably benign Het
Zfp472 A G 17: 33,196,416 (GRCm39) M164V probably benign Het
Zfp608 T C 18: 55,120,756 (GRCm39) N277S probably benign Het
Zfp831 T C 2: 174,547,097 (GRCm39) C1427R possibly 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
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
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'- TGGAGTTAGCATGGTTGACAC -3'
(R):5'- AGCTACTTATTCCACCCCAGTG -3'

Sequencing Primer
(F):5'- TTGACACGATGATGGGAGCCC -3'
(R):5'- AACTCTGGATATAGCTCTCCTACC -3'
Posted On 2016-02-04