Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Cdx2'

37192

Institutional Source

Beutler Lab

Gene Symbol

Cdx2

Ensembl Gene

ENSMUSG00000029646

Gene Name

caudal type homeobox 2

Synonyms

Cdx-2

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0239 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147237710-147244059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 147240097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 193 (T193K)

Ref Sequence

ENSEMBL: ENSMUSP00000031650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031650]

AlphaFold

P43241

Predicted Effect

probably damaging
Transcript: ENSMUST00000031650
AA Change: T193K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031650
Gene: ENSMUSG00000029646
AA Change: T193K

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

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

100% (3/3)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nomo1	T	C	7: 45,729,018 (GRCm39)		probably null	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35c2	C	T	2: 165,122,757 (GRCm39)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTACCCATTAAGATTGCCCCAGG -3'
(R):5'- CCTTTCAGGTTAGTTGTGCCTCCAG -3'

Sequencing Primer
(F):5'- GATTGCCCCAGGCCATAATAAC -3'
(R):5'- ATCCTGTGAGTGGATATTGTCAACC -3'

Posted On

2013-05-09