Mutagenetix > Incidental Mutation

Incidental Mutation 'R0112:Axin2'

20532

Institutional Source

Beutler Lab

Gene Symbol

Axin2

Ensembl Gene

ENSMUSG00000000142

Gene Name

axin 2

Synonyms

Axil, Conductin

MMRRC Submission

038398-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0112 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

108811175-108841609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108830223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 348 (S348P)

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: S348P

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: S348P

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
AA Change: S348P

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142
AA Change: S348P

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

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,815 (GRCm39)	Y179F	probably benign	Het
Abcd4	A	G	12: 84,659,673 (GRCm39)		probably benign	Het
Abhd12b	C	T	12: 70,227,791 (GRCm39)	T191M	probably benign	Het
Adcy5	A	G	16: 34,976,548 (GRCm39)	E27G	possibly damaging	Het
Adgb	G	A	10: 10,282,902 (GRCm39)		probably benign	Het
Afdn	T	C	17: 14,104,899 (GRCm39)	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,870,600 (GRCm39)	R351L	probably damaging	Het
Bfsp1	A	C	2: 143,669,563 (GRCm39)		probably null	Het
Brd1	A	G	15: 88,614,586 (GRCm39)	V103A	probably benign	Het
Ccdc13	C	A	9: 121,642,547 (GRCm39)	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,321,627 (GRCm39)	K577R	probably damaging	Het
Csmd2	G	T	4: 128,389,822 (GRCm39)	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
Defb3	T	A	8: 19,343,423 (GRCm39)	L12Q	probably null	Het
Defb7	G	T	8: 19,545,186 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,682,540 (GRCm39)	M491K	probably damaging	Het
Dnah17	T	C	11: 117,965,260 (GRCm39)	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,825 (GRCm39)	E853D	probably benign	Het
Dner	C	A	1: 84,560,774 (GRCm39)	A23S	probably benign	Het
Dock5	A	C	14: 68,057,090 (GRCm39)	S539A	probably benign	Het
Dsg2	T	A	18: 20,716,099 (GRCm39)	F317I	probably benign	Het
Enox1	A	T	14: 77,936,638 (GRCm39)	I539F	possibly damaging	Het
Eogt	G	A	6: 97,112,245 (GRCm39)		probably benign	Het
Fbxo22	A	G	9: 55,130,630 (GRCm39)	T300A	probably benign	Het
Fes	T	C	7: 80,033,753 (GRCm39)	D166G	probably damaging	Het
Fn1	A	G	1: 71,648,812 (GRCm39)	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,777,935 (GRCm39)		probably benign	Het
Foxh1	T	C	15: 76,553,210 (GRCm39)	H168R	probably benign	Het
Galnt14	T	G	17: 73,881,979 (GRCm39)		probably benign	Het
Gdf6	A	G	4: 9,844,482 (GRCm39)	D2G	probably damaging	Het
Gp6	C	A	7: 4,373,183 (GRCm39)	A247S	probably benign	Het
Gp6	G	C	7: 4,374,626 (GRCm39)	P232A	probably benign	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,981,340 (GRCm39)	T198A	possibly damaging	Het
Helz	T	C	11: 107,563,774 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,311 (GRCm39)	E180G	probably benign	Het
Igsf10	A	G	3: 59,233,429 (GRCm39)	V1768A	probably benign	Het
Ints10	A	T	8: 69,279,954 (GRCm39)	T694S	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lipc	T	A	9: 70,727,709 (GRCm39)	Y131F	probably damaging	Het
Litaf	G	T	16: 10,784,375 (GRCm39)	T45K	probably damaging	Het
Lmo7	A	T	14: 102,124,629 (GRCm39)	R363*	probably null	Het
Lrrc37a	A	T	11: 103,391,739 (GRCm39)	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,008,024 (GRCm39)	A943T	probably damaging	Het
Mtor	A	G	4: 148,565,380 (GRCm39)	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,262,743 (GRCm39)	Y384*	probably null	Het
Nat2	C	T	8: 67,954,378 (GRCm39)	Q163*	probably null	Het
Nell2	A	G	15: 95,329,562 (GRCm39)		probably benign	Het
Nphp3	C	T	9: 103,914,547 (GRCm39)	H102Y	possibly damaging	Het
Olr1	T	C	6: 129,465,869 (GRCm39)	S46G	possibly damaging	Het
Or2y13	A	T	11: 49,414,961 (GRCm39)	H137L	possibly damaging	Het
Or52x1	A	T	7: 104,852,866 (GRCm39)	M228K	probably benign	Het
Or5b94	C	T	19: 12,652,121 (GRCm39)	T184I	probably benign	Het
Parg	C	A	14: 31,924,390 (GRCm39)	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,245,714 (GRCm39)		probably benign	Het
Ripk4	A	G	16: 97,544,761 (GRCm39)	C629R	probably benign	Het
Rnf145	A	G	11: 44,454,978 (GRCm39)	T620A	probably benign	Het
Rskr	T	C	11: 78,182,507 (GRCm39)		probably benign	Het
Samd9l	T	G	6: 3,376,031 (GRCm39)	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,511,934 (GRCm39)		probably benign	Het
Slc19a1	T	C	10: 76,877,999 (GRCm39)	I178T	probably benign	Het
Slco1b2	A	T	6: 141,616,837 (GRCm39)	Y390F	probably benign	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,991,466 (GRCm39)		probably benign	Het
Tmem131l	G	A	3: 83,847,894 (GRCm39)	Q324*	probably null	Het
Trf	A	G	9: 103,104,155 (GRCm39)		probably benign	Het
Trp53	T	G	11: 69,479,505 (GRCm39)	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,144,098 (GRCm39)	M618K	probably damaging	Het
Trrap	C	A	5: 144,759,571 (GRCm39)	Y2250*	probably null	Het
Ttc3	A	G	16: 94,186,181 (GRCm39)		probably benign	Het
Ubtfl1	T	G	9: 18,321,083 (GRCm39)	S204A	probably benign	Het
Uck2	A	T	1: 167,055,340 (GRCm39)	Y203N	probably damaging	Het
Utrn	A	T	10: 12,562,209 (GRCm39)	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,593,609 (GRCm39)	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,691,897 (GRCm39)	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,990,991 (GRCm39)	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,463,866 (GRCm39)	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,269,962 (GRCm39)	S17C	probably damaging	Het
Zfp811	C	T	17: 33,016,738 (GRCm39)	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,705,689 (GRCm39)		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
IGL02724:Axin2	APN	11	108,833,772 (GRCm39)	missense	possibly damaging	0.48
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
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

Predicted Primers

PCR Primer
(F):5'- TTTACTTGATGACAGCGGGCAGGG -3'
(R):5'- TAGCAGGAATGCAGTGAGCCTACC -3'

Sequencing Primer
(F):5'- CTACGTGACTGCACTTGGAG -3'
(R):5'- TAATTTAGGGCCTCACTACCCG -3'

Posted On

2013-04-11