Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02578:Cdx2'

299276

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 #

IGL02578

Quality Score

Status

Chromosome

Chromosomal Location

147237710-147244059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 147240094 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

P43241

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,023,179 (GRCm39)		probably null	Het
Ago1	T	A	4: 126,333,324 (GRCm39)	D545V	probably benign	Het
Arid2	T	C	15: 96,270,116 (GRCm39)	S1410P	probably benign	Het
Cbfa2t3	T	A	8: 123,360,187 (GRCm39)	D488V	possibly damaging	Het
Cyp4a32	A	G	4: 115,466,939 (GRCm39)	Q208R	possibly damaging	Het
Degs1	A	C	1: 182,106,592 (GRCm39)	Y222*	probably null	Het
Dnah7a	T	A	1: 53,472,074 (GRCm39)	E3564D	probably benign	Het
Dsg4	A	T	18: 20,604,250 (GRCm39)	I906F	possibly damaging	Het
Elovl3	A	G	19: 46,123,132 (GRCm39)	H236R	possibly damaging	Het
Foxp2	A	G	6: 15,376,814 (GRCm39)		probably benign	Het
Gm9892	A	T	8: 52,649,328 (GRCm39)		noncoding transcript	Het
Herc2	A	G	7: 55,756,283 (GRCm39)		probably null	Het
Hhat	A	G	1: 192,376,221 (GRCm39)	V304A	probably damaging	Het
Il16	C	T	7: 83,327,194 (GRCm39)		probably null	Het
Kansl1l	G	A	1: 66,840,848 (GRCm39)	Q151*	probably null	Het
Kmt2c	G	T	5: 25,571,198 (GRCm39)		probably benign	Het
Krt39	T	C	11: 99,412,032 (GRCm39)	N18S	probably benign	Het
Lcor	G	T	19: 41,547,589 (GRCm39)	G391V	probably damaging	Het
Mical2	A	T	7: 111,950,580 (GRCm39)	T845S	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mphosph8	C	T	14: 56,911,667 (GRCm39)	A230V	probably benign	Het
Myh2	T	A	11: 67,077,517 (GRCm39)	M884K	probably benign	Het
Nlrp3	T	C	11: 59,439,227 (GRCm39)	L268P	probably damaging	Het
Ntng1	T	A	3: 110,042,710 (GRCm39)	T39S	probably benign	Het
Or10ag58	T	A	2: 87,265,401 (GRCm39)	I190K	probably damaging	Het
Or1j14	A	C	2: 36,418,156 (GRCm39)	H244P	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Pde4b	T	A	4: 102,112,494 (GRCm39)	M26K	possibly damaging	Het
Polh	G	A	17: 46,505,218 (GRCm39)	Q133*	probably null	Het
Postn	A	T	3: 54,284,625 (GRCm39)	N647I	possibly damaging	Het
Scimp	T	A	11: 70,682,387 (GRCm39)	I110F	possibly damaging	Het
Sell	A	G	1: 163,893,165 (GRCm39)	D127G	probably damaging	Het
Serpinb12	G	A	1: 106,883,220 (GRCm39)		probably null	Het
She	A	G	3: 89,739,373 (GRCm39)	E188G	probably damaging	Het
Shisal2a	C	T	4: 108,225,225 (GRCm39)	M112I	probably benign	Het
Slc22a1	T	C	17: 12,886,126 (GRCm39)	Y169C	probably damaging	Het
Slco2a1	C	T	9: 102,923,957 (GRCm39)	T57I	probably damaging	Het
Sox2	A	T	3: 34,704,745 (GRCm39)	M61L	probably benign	Het
Sra1	G	A	18: 36,803,150 (GRCm39)	Q32*	probably null	Het
Syne2	T	A	12: 76,069,053 (GRCm39)	S4340T	possibly damaging	Het
Ucn	A	C	5: 31,295,738 (GRCm39)	W43G	possibly damaging	Het
Xdh	C	T	17: 74,213,241 (GRCm39)	M836I	probably damaging	Het
Xirp2	T	A	2: 67,341,591 (GRCm39)	D1277E	probably damaging	Het

Other mutations in Cdx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-04-16