Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Axin2'

305089

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Axin2

Ensembl Gene

ENSMUSG00000000142

Gene Name

axin 2

Synonyms

Axil, Conductin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

108811175-108841609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108833772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 573 (G573D)

Ref Sequence

ENSEMBL: ENSMUSP00000051331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052915] [ENSMUST00000106711]

AlphaFold

O88566

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052915
AA Change: G573D

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: G573D

Domain	Start	End	E-Value	Type
Pfam:AXIN1_TNKS_BD	9	73	8.1e-27	PFAM
RGS	81	200	4.7e-33	SMART
low complexity region	302	318	N/A	INTRINSIC
coiled coil region	377	405	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	432	472	7.6e-13	PFAM
low complexity region	511	520	N/A	INTRINSIC
DAX	758	840	1.42e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106711

SMART Domains

Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
RGS	81	200	4.7e-33	SMART
low complexity region	302	318	N/A	INTRINSIC
coiled coil region	377	405	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	432	469	8.6e-22	PFAM
low complexity region	511	520	N/A	INTRINSIC
DAX	693	775	1.42e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144130

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit premature fusion of cranial sutures, enhanced expansion of osteoprogenitors, accelerated ossification, and increased osteoblast proliferation and differentiation. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, other(1) Gene trapped(1)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	probably benign	Het

Other mutations in Axin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Axin2	APN	11	108,814,816 (GRCm39)	missense	probably benign
IGL01094:Axin2	APN	11	108,814,501 (GRCm39)	missense	probably damaging	0.99
IGL01563:Axin2	APN	11	108,814,631 (GRCm39)	missense	probably damaging	0.97
IGL02088:Axin2	APN	11	108,814,442 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Axin2	UTSW	11	108,814,829 (GRCm39)	missense	possibly damaging	0.85
R0029:Axin2	UTSW	11	108,814,873 (GRCm39)	missense	probably benign	0.01
R0052:Axin2	UTSW	11	108,840,096 (GRCm39)	missense	probably damaging	1.00
R0112:Axin2	UTSW	11	108,830,223 (GRCm39)	missense	possibly damaging	0.62
R0372:Axin2	UTSW	11	108,814,936 (GRCm39)	unclassified	probably benign
R0372:Axin2	UTSW	11	108,814,159 (GRCm39)	missense	probably damaging	1.00
R1200:Axin2	UTSW	11	108,822,376 (GRCm39)	missense	probably damaging	0.98
R1924:Axin2	UTSW	11	108,833,794 (GRCm39)	missense	probably benign	0.02
R2025:Axin2	UTSW	11	108,833,904 (GRCm39)	missense	probably damaging	1.00
R2427:Axin2	UTSW	11	108,814,800 (GRCm39)	missense	possibly damaging	0.93
R4210:Axin2	UTSW	11	108,833,402 (GRCm39)	missense	possibly damaging	0.89
R4781:Axin2	UTSW	11	108,834,682 (GRCm39)	missense	probably damaging	1.00
R4846:Axin2	UTSW	11	108,833,125 (GRCm39)	missense	probably benign	0.00
R4956:Axin2	UTSW	11	108,833,904 (GRCm39)	missense	probably damaging	1.00
R7365:Axin2	UTSW	11	108,830,202 (GRCm39)	missense	possibly damaging	0.93
R7519:Axin2	UTSW	11	108,833,072 (GRCm39)	missense	probably benign	0.00
R7662:Axin2	UTSW	11	108,833,282 (GRCm39)	missense	possibly damaging	0.96
R7947:Axin2	UTSW	11	108,814,529 (GRCm39)	missense	probably damaging	1.00
R8103:Axin2	UTSW	11	108,822,369 (GRCm39)	missense	probably damaging	0.99
R8766:Axin2	UTSW	11	108,814,657 (GRCm39)	missense	probably damaging	1.00
R8917:Axin2	UTSW	11	108,822,341 (GRCm39)	missense	probably damaging	1.00
R9043:Axin2	UTSW	11	108,833,794 (GRCm39)	missense	probably benign	0.02
R9169:Axin2	UTSW	11	108,822,378 (GRCm39)	missense	probably damaging	1.00
R9279:Axin2	UTSW	11	108,833,128 (GRCm39)	missense	possibly damaging	0.91
R9358:Axin2	UTSW	11	108,814,873 (GRCm39)	missense	probably benign	0.01
R9467:Axin2	UTSW	11	108,833,782 (GRCm39)	missense	possibly damaging	0.94
R9789:Axin2	UTSW	11	108,840,180 (GRCm39)	missense	probably damaging	1.00
X0054:Axin2	UTSW	11	108,814,400 (GRCm39)	missense	probably damaging	1.00
Z1177:Axin2	UTSW	11	108,814,300 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16