Incidental Mutation 'R6002:Cdx2'
ID 478419
Institutional Source Beutler Lab
Gene Symbol Cdx2
Ensembl Gene ENSMUSG00000029646
Gene Name caudal type homeobox 2
Synonyms Cdx-2
MMRRC Submission 044181-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 147237710-147244059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 147240044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 211 (T211S)
Ref Sequence ENSEMBL: ENSMUSP00000031650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031650]
AlphaFold P43241
Predicted Effect probably damaging
Transcript: ENSMUST00000031650
AA Change: T211S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031650
Gene: ENSMUSG00000029646
AA Change: T211S

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
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.6%
  • 20x: 88.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,492,768 (GRCm39) probably null Het
Adam28 A G 14: 68,879,511 (GRCm39) L179P probably benign Het
Amer2 G T 14: 60,616,231 (GRCm39) G142V possibly damaging Het
Ap2a1 A G 7: 44,553,819 (GRCm39) probably null Het
Arhgap32 A G 9: 32,168,275 (GRCm39) T753A probably benign Het
Capsl A G 15: 9,461,874 (GRCm39) D90G probably damaging Het
Cd96 A T 16: 45,938,349 (GRCm39) S39T possibly damaging Het
Chd9 A G 8: 91,705,515 (GRCm39) Y251C probably damaging Het
Chrna6 C T 8: 27,896,774 (GRCm39) V368I probably benign Het
Coro1a G T 7: 126,302,252 (GRCm39) Q32K probably benign Het
Cps1 T A 1: 67,211,914 (GRCm39) V694E possibly damaging Het
Eif3h A G 15: 51,662,672 (GRCm39) Y125H probably benign Het
Fbxw22 A C 9: 109,210,750 (GRCm39) Y420* probably null Het
Fgf21 T C 7: 45,264,651 (GRCm39) Y27C probably benign Het
Gm7356 A G 17: 14,221,001 (GRCm39) S343P probably benign Het
Hmcn2 A G 2: 31,310,321 (GRCm39) D3305G probably damaging Het
Ift70a1 T C 2: 75,811,121 (GRCm39) T321A possibly damaging Het
Kdm4c T A 4: 74,323,206 (GRCm39) F1046Y possibly damaging Het
Klk1b27 T A 7: 43,705,114 (GRCm39) W94R probably benign Het
Nwd2 A T 5: 63,962,143 (GRCm39) M576L probably benign Het
Or13c7d T C 4: 43,770,063 (GRCm39) H316R probably benign Het
Or4d2 A T 11: 87,784,633 (GRCm39) V39E probably damaging Het
Or5b122 T C 19: 13,562,781 (GRCm39) probably benign Het
Or5p54 A G 7: 107,554,376 (GRCm39) H176R probably damaging Het
Pappa T A 4: 65,215,645 (GRCm39) V1184D probably damaging Het
Pcyox1 T A 6: 86,369,164 (GRCm39) M152L probably benign Het
Pdha2 A G 3: 140,917,457 (GRCm39) V17A probably benign Het
Pi4k2b A T 5: 52,914,247 (GRCm39) I328L probably benign Het
Ppp1r13l T C 7: 19,111,895 (GRCm39) F814L probably benign Het
Prag1 A T 8: 36,571,337 (GRCm39) H640L probably benign Het
Prl5a1 T C 13: 28,329,465 (GRCm39) I48T probably benign Het
Rabgap1 A G 2: 37,363,614 (GRCm39) T132A probably benign Het
Sec31b T C 19: 44,524,203 (GRCm39) I146V probably benign Het
Slc30a9 A G 5: 67,499,460 (GRCm39) Y306C probably damaging Het
Stat3 A G 11: 100,794,569 (GRCm39) S247P probably benign Het
Tbc1d1 C A 5: 64,490,776 (GRCm39) L747I probably damaging Het
Tbc1d24 A T 17: 24,402,761 (GRCm39) M1K probably null Het
Vezt A C 10: 93,836,336 (GRCm39) V104G probably damaging Het
Zbtb41 A G 1: 139,351,397 (GRCm39) D170G probably damaging Het
Zswim2 C A 2: 83,746,032 (GRCm39) D469Y probably damaging Het
Other mutations in Cdx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Cdx2 APN 5 147,243,792 (GRCm39) start codon destroyed possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- CTGATCCATTGAAAGAGCGGC -3'
(R):5'- AACCTGGGTAGTAGACACCC -3'

Sequencing Primer
(F):5'- TCCATTGAAAGAGCGGCAAAAAC -3'
(R):5'- GAGAGAAATGACTCCTGGGTTAG -3'
Posted On 2017-06-26