Incidental Mutation 'R9652:Ctbp2'
ID 735384
Institutional Source Beutler Lab
Gene Symbol Ctbp2
Ensembl Gene ENSMUSG00000030970
Gene Name C-terminal binding protein 2
Synonyms Ribeye, D7Ertd45e, Gtrgeo6
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9652 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 132589292-132726083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 132615933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 334 (R334P)
Ref Sequence ENSEMBL: ENSMUSP00000130294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033269] [ENSMUST00000124096] [ENSMUST00000163601] [ENSMUST00000165457] [ENSMUST00000166439] [ENSMUST00000167218] [ENSMUST00000168958] [ENSMUST00000169570] [ENSMUST00000170459] [ENSMUST00000172341]
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 probably benign
Transcript: ENSMUST00000165457
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: 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 damaging
Transcript: ENSMUST00000169570
AA Change: R334P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130294
Gene: ENSMUSG00000030970
AA Change: R334P

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 probably benign
Transcript: ENSMUST00000170459
Predicted Effect probably benign
Transcript: ENSMUST00000172341
SMART Domains Protein: ENSMUSP00000127701
Gene: ENSMUSG00000030970

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 36 177 5.6e-27 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.6%
  • 20x: 99.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 G A 18: 61,876,432 (GRCm39) T395M probably damaging Het
Akap8l T C 17: 32,557,783 (GRCm39) N35D probably damaging Het
Atr T A 9: 95,756,887 (GRCm39) L922Q probably damaging Het
B3gnt9 G T 8: 105,981,129 (GRCm39) F86L probably damaging Het
Bmp1 T C 14: 70,715,360 (GRCm39) D925G probably damaging Het
Camkmt A T 17: 85,759,713 (GRCm39) R284S probably benign Het
Cavin3 G T 7: 105,131,304 (GRCm39) H21Q probably damaging Het
Ccp110 A G 7: 118,334,553 (GRCm39) H180R Het
Cdh23 A T 10: 60,167,135 (GRCm39) V1837E probably damaging Het
Ces3b G T 8: 105,812,257 (GRCm39) A169S probably damaging Het
Chpt1 T C 10: 88,325,499 (GRCm39) N122S probably benign Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Cwh43 T C 5: 73,572,340 (GRCm39) S193P probably benign Het
Dcstamp A T 15: 39,623,792 (GRCm39) D469V probably benign Het
Dst T A 1: 34,219,458 (GRCm39) I1966N probably benign Het
Eif3i G T 4: 129,489,094 (GRCm39) F121L probably benign Het
Erbb2 T C 11: 98,326,812 (GRCm39) S1074P probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbn2 A G 18: 58,146,722 (GRCm39) probably null Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Gm2a T C 11: 54,999,764 (GRCm39) V95A probably benign Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Gramd4 G A 15: 86,016,160 (GRCm39) E504K probably damaging Het
Gusb A G 5: 130,026,652 (GRCm39) S450P probably damaging Het
Htr5a A G 5: 28,047,838 (GRCm39) N131S possibly damaging Het
Itga2 G A 13: 115,020,991 (GRCm39) P120L probably benign Het
Itpkb G T 1: 180,160,056 (GRCm39) E61* probably null Het
Katnbl1 T A 2: 112,239,497 (GRCm39) V232D probably damaging Het
Kifap3 T C 1: 163,689,657 (GRCm39) L547P probably damaging Het
Krt6a C T 15: 101,599,120 (GRCm39) V482M probably benign Het
Lrfn5 T A 12: 61,890,418 (GRCm39) V569D probably damaging Het
Luzp2 A G 7: 54,702,580 (GRCm39) T48A probably damaging Het
Mical2 G T 7: 111,945,996 (GRCm39) R986L probably damaging Het
Mroh8 G A 2: 157,094,970 (GRCm39) Q339* probably null Het
Msln A T 17: 25,968,042 (GRCm39) V541E probably damaging Het
Muc16 T A 9: 18,498,178 (GRCm39) M6590L probably benign Het
Nhsl3 T C 4: 129,117,962 (GRCm39) E279G possibly damaging Het
Nisch A T 14: 30,893,628 (GRCm39) V1315E probably damaging Het
Nubp2 G A 17: 25,103,382 (GRCm39) T165I probably damaging Het
Oog3 T G 4: 143,884,489 (GRCm39) R482S probably benign Het
Or2a7 A G 6: 43,150,991 (GRCm39) M24V probably benign Het
Or56a42-ps1 A T 7: 104,775,985 (GRCm39) N164K probably benign Het
Or6c33 T C 10: 129,853,809 (GRCm39) I193T possibly damaging Het
Or7a41 T C 10: 78,871,230 (GRCm39) I200T probably benign Het
Or8k39 A T 2: 86,563,636 (GRCm39) F107I probably damaging Het
P3h4 A T 11: 100,304,499 (GRCm39) C247* probably null Het
Pakap G A 4: 57,710,125 (GRCm39) A357T possibly damaging Het
Plch2 T A 4: 155,082,942 (GRCm39) M569L probably benign Het
Plcl1 A G 1: 55,735,450 (GRCm39) T264A probably benign Het
Rad51ap1 G T 6: 126,904,526 (GRCm39) N178K probably benign Het
Rasa4 T C 5: 136,130,494 (GRCm39) L340P probably damaging Het
Rassf10 A G 7: 112,554,784 (GRCm39) T462A probably benign Het
Rlf G C 4: 121,007,865 (GRCm39) L482V probably damaging Het
Robo1 T G 16: 72,821,330 (GRCm39) S1357A possibly damaging Het
Rp1l1 T C 14: 64,269,714 (GRCm39) S1767P probably damaging Het
Rpl3l T A 17: 24,947,328 (GRCm39) L14Q probably damaging Het
Ryr3 T A 2: 112,635,047 (GRCm39) T2024S possibly damaging Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sema6a T C 18: 47,382,252 (GRCm39) Q765R probably damaging Het
Senp6 T A 9: 80,021,228 (GRCm39) Y303N probably damaging Het
Sertad4 C T 1: 192,528,836 (GRCm39) D327N probably damaging Het
Slc22a15 T A 3: 101,790,848 (GRCm39) Y219F possibly damaging Het
Slco1b2 T G 6: 141,594,358 (GRCm39) probably null Het
Snrnp200 G T 2: 127,067,959 (GRCm39) V819L probably damaging Het
Ssb C A 2: 69,700,784 (GRCm39) A288E probably damaging Het
Syne2 A G 12: 76,101,620 (GRCm39) H638R probably benign Het
Tm7sf3 A G 6: 146,527,698 (GRCm39) S43P probably benign Het
Tmem200c A G 17: 69,149,181 (GRCm39) H588R probably benign Het
Tnpo3 G A 6: 29,560,173 (GRCm39) R657* probably null Het
Traf6 T C 2: 101,518,927 (GRCm39) C139R probably damaging Het
Txnrd1 C A 10: 82,720,390 (GRCm39) N424K possibly damaging Het
Ubqln3 T C 7: 103,791,962 (GRCm39) I43V probably damaging Het
Usp32 A G 11: 84,921,317 (GRCm39) V699A probably damaging Het
Vmn2r103 T C 17: 20,014,027 (GRCm39) V273A probably benign Het
Vmn2r8 A G 5: 108,951,107 (GRCm39) S113P probably benign Het
Wdr7 T A 18: 63,860,826 (GRCm39) I161N probably damaging Het
Zfp474 A T 18: 52,772,015 (GRCm39) I223F probably damaging Het
Zfp583 A G 7: 6,320,328 (GRCm39) L228P probably damaging Het
Zfyve27 A G 19: 42,165,856 (GRCm39) T76A 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
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
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'- AGAGGGTGTCTGCAAAGGTC -3'
(R):5'- TGAGAATTACGAAGCTGACTTGTC -3'

Sequencing Primer
(F):5'- TGTCTGCAAAGGTCCAGCAG -3'
(R):5'- TGTCTACATTCCAAGGACCTGGG -3'
Posted On 2022-11-14