Mutagenetix > Incidental Mutation

Incidental Mutation 'R2025:Axin2'

220494

Institutional Source

Beutler Lab

Gene Symbol

Axin2

Ensembl Gene

ENSMUSG00000000142

Gene Name

axin 2

Synonyms

Axil, Conductin

MMRRC Submission

040034-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108920349-108950783 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108943078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 617 (V617D)

Ref Sequence

ENSEMBL: ENSMUSP00000051331 (fasta)

Gene Model

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

AlphaFold

O88566

Predicted Effect

probably damaging
Transcript: ENSMUST00000052915
AA Change: V617D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: V617D

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

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	T	C	2: 148,782,228 (GRCm38)	F41L	probably damaging	Het
Abcc4	T	C	14: 118,553,325 (GRCm38)	M757V	probably benign	Het
Acan	T	G	7: 79,101,222 (GRCm38)	S1914A	probably benign	Het
Bhlhe22	A	G	3: 18,055,811 (GRCm38)	S342G	probably benign	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,746,173 (GRCm38)		probably null	Het
Ccdc34	A	G	2: 110,032,386 (GRCm38)	K179E	possibly damaging	Het
Clasp1	A	G	1: 118,504,899 (GRCm38)	T208A	probably damaging	Het
Crabp1	C	T	9: 54,768,468 (GRCm38)	R112*	probably null	Het
D130040H23Rik	A	G	8: 69,302,873 (GRCm38)	N310S	probably benign	Het
Dalrd3	T	C	9: 108,571,085 (GRCm38)	I278T	probably benign	Het
Dbp	C	A	7: 45,708,276 (GRCm38)	D89E	probably benign	Het
Dennd2c	A	G	3: 103,131,689 (GRCm38)	D51G	possibly damaging	Het
Dido1	A	T	2: 180,689,181 (GRCm38)	L158*	probably null	Het
Disp1	G	T	1: 183,088,203 (GRCm38)	F884L	probably damaging	Het
Dmrtb1	T	C	4: 107,683,585 (GRCm38)	D193G	probably damaging	Het
Dnah8	A	G	17: 30,731,159 (GRCm38)	D1984G	probably damaging	Het
Dpf2	T	C	19: 5,902,753 (GRCm38)	Y218C	possibly damaging	Het
Dsg4	C	T	18: 20,466,636 (GRCm38)	Q770*	probably null	Het
Efemp1	A	T	11: 28,914,696 (GRCm38)	Y250F	possibly damaging	Het
Erbin	A	T	13: 103,830,195 (GRCm38)	I1249N	probably benign	Het
F5	A	G	1: 164,209,475 (GRCm38)	K1928E	probably benign	Het
Fam160a2	A	G	7: 105,388,936 (GRCm38)	V260A	probably damaging	Het
Fam206a	T	A	4: 56,805,916 (GRCm38)	I138N	probably damaging	Het
Gdf11	T	A	10: 128,891,445 (GRCm38)	I81F	probably damaging	Het
Gm10518	T	A	1: 179,803,918 (GRCm38)		probably benign	Het
Gm14685	G	T	X: 73,127,655 (GRCm38)	G218C	probably damaging	Het
Grb10	G	C	11: 11,970,576 (GRCm38)	S14*	probably null	Het
Greb1l	A	T	18: 10,515,221 (GRCm38)	Y562F	possibly damaging	Het
Gtf2ird1	T	C	5: 134,363,934 (GRCm38)	E789G	probably damaging	Het
Hook3	T	C	8: 26,038,098 (GRCm38)	E588G	probably damaging	Het
Hpx	A	G	7: 105,595,104 (GRCm38)	S266P	probably damaging	Het
Hs6st3	A	G	14: 119,869,389 (GRCm38)	D403G	probably damaging	Het
Igf2bp1	A	G	11: 95,974,170 (GRCm38)	V151A	possibly damaging	Het
Itga11	C	T	9: 62,762,811 (GRCm38)	T739I	probably damaging	Het
Kalrn	T	C	16: 34,189,736 (GRCm38)	I702V	probably damaging	Het
Kif2b	C	T	11: 91,577,346 (GRCm38)	S37N	probably damaging	Het
Kng2	T	A	16: 23,000,575 (GRCm38)	D237V	probably benign	Het
Krtap27-1	C	A	16: 88,671,285 (GRCm38)	V124L	possibly damaging	Het
Lig4	A	T	8: 9,972,436 (GRCm38)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,371,918 (GRCm38)	A4821T	probably damaging	Het
Msh5	T	A	17: 35,032,792 (GRCm38)	I431F	possibly damaging	Het
Ndufa10	A	G	1: 92,439,892 (GRCm38)	Y339H	probably damaging	Het
Nin	T	A	12: 70,030,008 (GRCm38)	Q1091L	probably damaging	Het
Nom1	A	C	5: 29,446,851 (GRCm38)	D729A	probably damaging	Het
Olfr671	C	A	7: 104,975,244 (GRCm38)	G247V	probably benign	Het
P2ry14	A	T	3: 59,115,445 (GRCm38)	V207E	probably damaging	Het
Pdss2	A	T	10: 43,393,875 (GRCm38)	N238I	possibly damaging	Het
Pkn1	A	G	8: 83,671,378 (GRCm38)	V795A	probably damaging	Het
Pla2g6	A	C	15: 79,286,764 (GRCm38)	L804R	probably damaging	Het
Poglut1	A	T	16: 38,537,905 (GRCm38)		probably null	Het
Prkcz	A	T	4: 155,289,710 (GRCm38)	V83D	probably damaging	Het
Prss50	T	C	9: 110,861,260 (GRCm38)	F157S	probably benign	Het
Psors1c2	A	G	17: 35,534,202 (GRCm38)		probably benign	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rab7	G	A	6: 88,004,179 (GRCm38)	L174F	probably damaging	Het
Rapgef4	A	G	2: 72,242,739 (GRCm38)	T790A	probably benign	Het
Rb1cc1	G	T	1: 6,245,309 (GRCm38)	V503L	probably damaging	Het
Sbf1	T	A	15: 89,302,730 (GRCm38)	E815V	probably damaging	Het
Setd3	T	A	12: 108,160,267 (GRCm38)	E104V	probably damaging	Het
Slc39a5	G	T	10: 128,398,411 (GRCm38)	L208M	probably damaging	Het
Slc39a5	A	T	10: 128,398,410 (GRCm38)	L208Q	probably damaging	Het
Slc3a1	T	G	17: 85,032,845 (GRCm38)	Y232D	probably damaging	Het
Slc8a1	T	A	17: 81,649,112 (GRCm38)	S166C	probably damaging	Het
Stard9	T	A	2: 120,702,398 (GRCm38)	D3045E	probably benign	Het
Stk4	C	A	2: 164,096,831 (GRCm38)	D206E	probably damaging	Het
Syn3	T	C	10: 86,466,982 (GRCm38)	D103G	probably damaging	Het
Tbc1d30	T	A	10: 121,279,146 (GRCm38)	Y369F	probably benign	Het
Tenm2	G	T	11: 36,047,264 (GRCm38)	Y1527*	probably null	Het
Tfg	T	C	16: 56,705,625 (GRCm38)	K85R	possibly damaging	Het
Timp3	T	C	10: 86,300,885 (GRCm38)	L11P	probably damaging	Het
Tmem144	A	T	3: 79,827,711 (GRCm38)		probably null	Het
Tmtc4	T	C	14: 122,921,265 (GRCm38)	N682S	probably benign	Het
Tnks2	C	T	19: 36,866,066 (GRCm38)	L464F	probably damaging	Het
Trank1	T	C	9: 111,392,039 (GRCm38)	F2615L	probably benign	Het
Trio	T	C	15: 27,744,137 (GRCm38)	K2570E	probably damaging	Het
Trio	T	A	15: 27,773,927 (GRCm38)	D673V	probably damaging	Het
Ublcp1	A	T	11: 44,465,631 (GRCm38)	C87S	probably benign	Het
Unc13a	C	T	8: 71,639,768 (GRCm38)	E1386K	possibly damaging	Het
Wdr41	C	T	13: 95,018,948 (GRCm38)	H404Y	probably damaging	Het
Zfp280b	T	C	10: 76,038,494 (GRCm38)	L69S	probably damaging	Het
Zfp346	T	C	13: 55,132,308 (GRCm38)	S282P	probably damaging	Het
Zfp579	C	A	7: 4,993,521 (GRCm38)	E464*	probably null	Het
Zfp78	T	A	7: 6,375,514 (GRCm38)		probably null	Het
Zswim9	T	C	7: 13,269,366 (GRCm38)	E186G	probably damaging	Het

Other mutations in Axin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Axin2	APN	11	108,923,990 (GRCm38)	missense	probably benign
IGL01094:Axin2	APN	11	108,923,675 (GRCm38)	missense	probably damaging	0.99
IGL01563:Axin2	APN	11	108,923,805 (GRCm38)	missense	probably damaging	0.97
IGL02088:Axin2	APN	11	108,923,616 (GRCm38)	missense	probably damaging	1.00
IGL02724:Axin2	APN	11	108,942,946 (GRCm38)	missense	possibly damaging	0.48
PIT4131001:Axin2	UTSW	11	108,924,003 (GRCm38)	missense	possibly damaging	0.85
R0029:Axin2	UTSW	11	108,924,047 (GRCm38)	missense	probably benign	0.01
R0052:Axin2	UTSW	11	108,949,270 (GRCm38)	missense	probably damaging	1.00
R0112:Axin2	UTSW	11	108,939,397 (GRCm38)	missense	possibly damaging	0.62
R0372:Axin2	UTSW	11	108,924,110 (GRCm38)	unclassified	probably benign
R0372:Axin2	UTSW	11	108,923,333 (GRCm38)	missense	probably damaging	1.00
R1200:Axin2	UTSW	11	108,931,550 (GRCm38)	missense	probably damaging	0.98
R1924:Axin2	UTSW	11	108,942,968 (GRCm38)	missense	probably benign	0.02
R2427:Axin2	UTSW	11	108,923,974 (GRCm38)	missense	possibly damaging	0.93
R4210:Axin2	UTSW	11	108,942,576 (GRCm38)	missense	possibly damaging	0.89
R4781:Axin2	UTSW	11	108,943,856 (GRCm38)	missense	probably damaging	1.00
R4846:Axin2	UTSW	11	108,942,299 (GRCm38)	missense	probably benign	0.00
R4956:Axin2	UTSW	11	108,943,078 (GRCm38)	missense	probably damaging	1.00
R7365:Axin2	UTSW	11	108,939,376 (GRCm38)	missense	possibly damaging	0.93
R7519:Axin2	UTSW	11	108,942,246 (GRCm38)	missense	probably benign	0.00
R7662:Axin2	UTSW	11	108,942,456 (GRCm38)	missense	possibly damaging	0.96
R7947:Axin2	UTSW	11	108,923,703 (GRCm38)	missense	probably damaging	1.00
R8103:Axin2	UTSW	11	108,931,543 (GRCm38)	missense	probably damaging	0.99
R8766:Axin2	UTSW	11	108,923,831 (GRCm38)	missense	probably damaging	1.00
R8917:Axin2	UTSW	11	108,931,515 (GRCm38)	missense	probably damaging	1.00
R9043:Axin2	UTSW	11	108,942,968 (GRCm38)	missense	probably benign	0.02
R9169:Axin2	UTSW	11	108,931,552 (GRCm38)	missense	probably damaging	1.00
R9279:Axin2	UTSW	11	108,942,302 (GRCm38)	missense	possibly damaging	0.91
R9358:Axin2	UTSW	11	108,924,047 (GRCm38)	missense	probably benign	0.01
R9467:Axin2	UTSW	11	108,942,956 (GRCm38)	missense	possibly damaging	0.94
R9789:Axin2	UTSW	11	108,949,354 (GRCm38)	missense	probably damaging	1.00
X0054:Axin2	UTSW	11	108,923,574 (GRCm38)	missense	probably damaging	1.00
Z1177:Axin2	UTSW	11	108,923,474 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCATGGAACTGTCCTCAG -3'
(R):5'- CCTCAGCCCAGTGTCTAATAC -3'

Sequencing Primer
(F):5'- GACTGCCCAATTCCAGGAG -3'
(R):5'- CCCAGTGTCTAATACTGAGATGGC -3'

Posted On

2014-08-25