Incidental Mutation 'IGL02578:Cdx2'
ID299276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdx2
Ensembl Gene ENSMUSG00000029646
Gene Namecaudal type homeobox 2
SynonymsCdx-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02578
Quality Score
Status
Chromosome5
Chromosomal Location147300805-147307270 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 147303284 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 194 (D194G)
Ref Sequence ENSEMBL: ENSMUSP00000031650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031650]
Predicted Effect probably damaging
Transcript: ENSMUST00000031650
AA Change: D194G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031650
Gene: ENSMUSG00000029646
AA Change: D194G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,423,956 probably null Het
Ago1 T A 4: 126,439,531 D545V probably benign Het
Arid2 T C 15: 96,372,235 S1410P probably benign Het
Cbfa2t3 T A 8: 122,633,448 D488V possibly damaging Het
Cyp4a32 A G 4: 115,609,742 Q208R possibly damaging Het
Degs1 A C 1: 182,279,027 Y222* probably null Het
Dnah7a T A 1: 53,432,915 E3564D probably benign Het
Dsg4 A T 18: 20,471,193 I906F possibly damaging Het
Elovl3 A G 19: 46,134,693 H236R possibly damaging Het
Fam159a C T 4: 108,368,028 M112I probably benign Het
Foxp2 A G 6: 15,376,815 probably benign Het
Gm9892 A T 8: 52,196,293 noncoding transcript Het
Herc2 A G 7: 56,106,535 probably null Het
Hhat A G 1: 192,693,913 V304A probably damaging Het
Il16 C T 7: 83,677,986 probably null Het
Kansl1l G A 1: 66,801,689 Q151* probably null Het
Kmt2c G T 5: 25,366,200 probably benign Het
Krt39 T C 11: 99,521,206 N18S probably benign Het
Lcor G T 19: 41,559,150 G391V probably damaging Het
Mical2 A T 7: 112,351,373 T845S probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mphosph8 C T 14: 56,674,210 A230V probably benign Het
Myh2 T A 11: 67,186,691 M884K probably benign Het
Nlrp3 T C 11: 59,548,401 L268P probably damaging Het
Ntng1 T A 3: 110,135,394 T39S probably benign Het
Olfr1043 A T 2: 86,162,729 Y73* probably null Het
Olfr1124 T A 2: 87,435,057 I190K probably damaging Het
Olfr342 A C 2: 36,528,144 H244P probably damaging Het
Pde4b T A 4: 102,255,297 M26K possibly damaging Het
Polh G A 17: 46,194,292 Q133* probably null Het
Postn A T 3: 54,377,204 N647I possibly damaging Het
Scimp T A 11: 70,791,561 I110F possibly damaging Het
Sell A G 1: 164,065,596 D127G probably damaging Het
Serpinb12 G A 1: 106,955,490 probably null Het
She A G 3: 89,832,066 E188G probably damaging Het
Slc22a1 T C 17: 12,667,239 Y169C probably damaging Het
Slco2a1 C T 9: 103,046,758 T57I probably damaging Het
Sox2 A T 3: 34,650,596 M61L probably benign Het
Sra1 G A 18: 36,670,097 Q32* probably null Het
Syne2 T A 12: 76,022,279 S4340T possibly damaging Het
Ucn A C 5: 31,138,394 W43G possibly damaging Het
Xdh C T 17: 73,906,246 M836I probably damaging Het
Xirp2 T A 2: 67,511,247 D1277E probably damaging Het
Other mutations in Cdx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Cdx2 APN 5 147306982 start codon destroyed possibly damaging 0.93
IGL01471:Cdx2 APN 5 147303249 missense probably benign 0.00
Brubeck UTSW 5 147303287 missense probably damaging 1.00
R0238:Cdx2 UTSW 5 147303287 missense probably damaging 1.00
R0238:Cdx2 UTSW 5 147303287 missense probably damaging 1.00
R0239:Cdx2 UTSW 5 147303287 missense probably damaging 1.00
R0239:Cdx2 UTSW 5 147303287 missense probably damaging 1.00
R0245:Cdx2 UTSW 5 147306473 missense possibly damaging 0.79
R0464:Cdx2 UTSW 5 147306473 missense possibly damaging 0.79
R0465:Cdx2 UTSW 5 147306473 missense possibly damaging 0.79
R1463:Cdx2 UTSW 5 147306660 missense probably benign 0.10
R3177:Cdx2 UTSW 5 147303192 missense probably benign 0.25
R3277:Cdx2 UTSW 5 147303192 missense probably benign 0.25
R4166:Cdx2 UTSW 5 147306729 missense possibly damaging 0.48
R5732:Cdx2 UTSW 5 147302023 missense possibly damaging 0.88
R6002:Cdx2 UTSW 5 147303234 missense probably damaging 0.98
R7381:Cdx2 UTSW 5 147306630 missense possibly damaging 0.92
R7489:Cdx2 UTSW 5 147306672 missense probably benign 0.16
Posted On2015-04-16