Incidental Mutation 'IGL01098:Cdx2'
ID 51103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdx2
Ensembl Gene ENSMUSG00000029646
Gene Name caudal type homeobox 2
Synonyms Cdx-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01098
Quality Score
Status
Chromosome 5
Chromosomal Location 147237710-147244059 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 147243792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000031650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031650]
AlphaFold P43241
Predicted Effect possibly damaging
Transcript: ENSMUST00000031650
AA Change: M1L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031650
Gene: ENSMUSG00000029646
AA Change: M1L

DomainStartEndE-ValueType
Pfam:Caudal_act 13 178 4.6e-38 PFAM
HOX 185 247 1.72e-25 SMART
low complexity region 285 305 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations die prior to gastrulation. Heterozygotes exhibit tail abnormalities, stunted growth, defects of the vertebrae and ribs, and multiple intestinal adenomatous polyps. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,453 (GRCm39) D75G possibly damaging Het
Brip1 G T 11: 85,999,688 (GRCm39) R765S possibly damaging Het
Btbd16 T C 7: 130,424,975 (GRCm39) I452T probably damaging Het
Cdc42ep4 T G 11: 113,620,328 (GRCm39) D21A probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Csmd2 C T 4: 127,952,845 (GRCm39) T98M probably damaging Het
Cyp26a1 A T 19: 37,688,450 (GRCm39) Q324L probably benign Het
Etaa1 A G 11: 17,896,059 (GRCm39) V686A probably damaging Het
Gpr6 G A 10: 40,946,739 (GRCm39) T281I probably damaging Het
Herc1 T A 9: 66,369,204 (GRCm39) probably null Het
Lama2 A T 10: 26,907,108 (GRCm39) I2351N possibly damaging Het
Lman1 A G 18: 66,124,711 (GRCm39) F343L probably damaging Het
Lmo1 A G 7: 108,742,657 (GRCm39) probably benign Het
Lrrc17 T A 5: 21,780,269 (GRCm39) F414L probably benign Het
Man2b2 A T 5: 36,972,900 (GRCm39) L538Q probably damaging Het
Map3k9 A G 12: 81,770,928 (GRCm39) S910P probably damaging Het
Mapk1ip1 G A 7: 138,438,191 (GRCm39) P80S probably damaging Het
Mindy4 G T 6: 55,261,727 (GRCm39) probably benign Het
Msh4 A T 3: 153,583,619 (GRCm39) probably benign Het
Mta2 A G 19: 8,924,081 (GRCm39) D187G probably damaging Het
Olfml2a A G 2: 38,837,226 (GRCm39) probably null Het
Pink1 A T 4: 138,047,408 (GRCm39) probably null Het
Plekha6 T C 1: 133,209,903 (GRCm39) F575L possibly damaging Het
Rpe C A 1: 66,745,674 (GRCm39) D71E probably benign Het
Slc5a7 C T 17: 54,599,988 (GRCm39) A142T probably benign Het
Sptbn1 C T 11: 30,109,385 (GRCm39) R70K probably damaging Het
Taf1c G T 8: 120,329,580 (GRCm39) Q159K probably damaging Het
Tgfb1i1 T C 7: 127,851,693 (GRCm39) F311S probably damaging Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmed8 G T 12: 87,223,445 (GRCm39) A98E probably benign Het
Tmem200a A G 10: 25,870,041 (GRCm39) I76T probably damaging Het
Vmn2r104 T C 17: 20,268,358 (GRCm39) E37G probably benign Het
Vmn2r18 A T 5: 151,496,296 (GRCm39) V474E probably damaging Het
Vps52 C T 17: 34,181,704 (GRCm39) T510I possibly damaging Het
Wwox G T 8: 115,172,118 (GRCm39) G71* probably null Het
Zer1 C T 2: 29,998,232 (GRCm39) probably null Het
Zfp296 A T 7: 19,311,845 (GRCm39) K117N possibly damaging Het
Other mutations in Cdx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Cdx2 APN 5 147,240,059 (GRCm39) missense probably benign 0.00
IGL02578:Cdx2 APN 5 147,240,094 (GRCm39) missense probably damaging 1.00
Brubeck UTSW 5 147,240,097 (GRCm39) missense probably damaging 1.00
R0238:Cdx2 UTSW 5 147,240,097 (GRCm39) missense probably damaging 1.00
R0238:Cdx2 UTSW 5 147,240,097 (GRCm39) missense probably damaging 1.00
R0239:Cdx2 UTSW 5 147,240,097 (GRCm39) missense probably damaging 1.00
R0239:Cdx2 UTSW 5 147,240,097 (GRCm39) missense probably damaging 1.00
R0245:Cdx2 UTSW 5 147,243,283 (GRCm39) missense possibly damaging 0.79
R0464:Cdx2 UTSW 5 147,243,283 (GRCm39) missense possibly damaging 0.79
R0465:Cdx2 UTSW 5 147,243,283 (GRCm39) missense possibly damaging 0.79
R1463:Cdx2 UTSW 5 147,243,470 (GRCm39) missense probably benign 0.10
R3177:Cdx2 UTSW 5 147,240,002 (GRCm39) missense probably benign 0.25
R3277:Cdx2 UTSW 5 147,240,002 (GRCm39) missense probably benign 0.25
R4166:Cdx2 UTSW 5 147,243,539 (GRCm39) missense possibly damaging 0.48
R5732:Cdx2 UTSW 5 147,238,833 (GRCm39) missense possibly damaging 0.88
R6002:Cdx2 UTSW 5 147,240,044 (GRCm39) missense probably damaging 0.98
R7381:Cdx2 UTSW 5 147,243,440 (GRCm39) missense possibly damaging 0.92
R7489:Cdx2 UTSW 5 147,243,482 (GRCm39) missense probably benign 0.16
R8307:Cdx2 UTSW 5 147,243,477 (GRCm39) missense possibly damaging 0.92
Posted On 2013-06-21