Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Axin2'

366527

Institutional Source

Beutler Lab

Gene Symbol

Axin2

Ensembl Gene

ENSMUSG00000000142

Gene Name

axin 2

Synonyms

Axil, Conductin

MMRRC Submission

042415-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4781 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

108811175-108841609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108834682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 636 (L636Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102322 (fasta)

Gene Model

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

AlphaFold

O88566

Predicted Effect

probably damaging
Transcript: ENSMUST00000052915
AA Change: L701Q

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

SMART Domains

Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: L701Q

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 damaging
Transcript: ENSMUST00000106711
AA Change: L636Q

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

SMART Domains

Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142
AA Change: L636Q

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

0.1248

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

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
2310022A10Rik	T	A	7: 27,271,076 (GRCm39)	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,908,571 (GRCm39)	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,034,926 (GRCm39)	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,558,174 (GRCm39)	K197*	probably null	Het
Ankrd65	C	T	4: 155,877,493 (GRCm39)	H335Y	possibly damaging	Het
Camk1g	G	T	1: 193,038,652 (GRCm39)	T90N	probably benign	Het
Cd177	C	A	7: 24,450,051 (GRCm39)	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,339,931 (GRCm39)	D730V	possibly damaging	Het
Crtap	T	C	9: 114,215,304 (GRCm39)	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,966,952 (GRCm39)	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,464,367 (GRCm39)	F3675L	probably benign	Het
Dram2	T	A	3: 106,478,992 (GRCm39)	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
Eif3i	T	C	4: 129,489,066 (GRCm39)	S83G	probably benign	Het
Gabra1	G	A	11: 42,024,488 (GRCm39)	P396S	probably damaging	Het
Gipr	T	A	7: 18,891,300 (GRCm39)	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm6981	T	C	9: 51,914,056 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,511,905 (GRCm39)	D180G	probably damaging	Het
Hectd4	T	G	5: 121,444,170 (GRCm39)		probably null	Het
Hhat	T	C	1: 192,369,287 (GRCm39)		probably benign	Het
Hoxa6	A	G	6: 52,183,400 (GRCm39)	L215P	possibly damaging	Het
Hsf4	G	A	8: 106,001,384 (GRCm39)		probably null	Het
Igf1r	G	A	7: 67,814,947 (GRCm39)	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,476 (GRCm39)	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,057,921 (GRCm39)	T43I	probably benign	Het
Kmt2c	T	A	5: 25,648,823 (GRCm39)	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,741,526 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,844,396 (GRCm39)		probably null	Het
Mefv	G	A	16: 3,533,198 (GRCm39)	P358S	probably benign	Het
Mrgpra9	A	G	7: 46,884,795 (GRCm39)	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,438,435 (GRCm39)	L673P	probably benign	Het
Muc19	T	C	15: 91,787,360 (GRCm39)		noncoding transcript	Het
Myo5b	A	T	18: 74,877,752 (GRCm39)	T1584S	possibly damaging	Het
Or1x6	A	T	11: 50,939,307 (GRCm39)	R124S	probably damaging	Het
Or4z4	T	C	19: 12,076,731 (GRCm39)	T91A	probably benign	Het
Palld	G	T	8: 62,330,062 (GRCm39)	R272S	probably benign	Het
Pcnx3	T	A	19: 5,737,158 (GRCm39)	N144Y	probably damaging	Het
Prf1	A	G	10: 61,136,203 (GRCm39)	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,122,190 (GRCm39)	A400V	probably benign	Het
Rnf150	A	G	8: 83,590,781 (GRCm39)	Y48C	probably damaging	Het
Rpl11	G	T	4: 135,777,599 (GRCm39)	Q170K	probably benign	Het
Scin	G	A	12: 40,131,763 (GRCm39)	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,534,104 (GRCm39)	A524S	possibly damaging	Het
Sim1	T	C	10: 50,859,881 (GRCm39)	L581S	probably benign	Het
Skor1	T	C	9: 63,051,741 (GRCm39)	T715A	probably benign	Het
Slc22a26	A	G	19: 7,767,500 (GRCm39)	V301A	probably benign	Het
Sorcs1	T	C	19: 50,171,119 (GRCm39)	Y923C	probably damaging	Het
Src	T	A	2: 157,309,405 (GRCm39)	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,734,386 (GRCm39)		probably benign	Het
Stard3	G	A	11: 98,263,160 (GRCm39)	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340 (GRCm39)	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,038,778 (GRCm39)	K20R	possibly damaging	Het
Tcstv4	A	C	13: 120,769,698 (GRCm39)	K6T	possibly damaging	Het
Tfip11	G	A	5: 112,481,265 (GRCm39)	E414K	probably damaging	Het
Tinag	G	T	9: 76,904,232 (GRCm39)	T397K	possibly damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Trmt10b	T	A	4: 45,305,817 (GRCm39)	I164N	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ube2u	A	T	4: 100,343,855 (GRCm39)	T85S	probably benign	Het
Ulk4	T	C	9: 120,932,642 (GRCm39)	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,387,069 (GRCm39)	I832F	probably benign	Het
Yipf1	A	C	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zfp40	T	A	17: 23,394,629 (GRCm39)	R653W	probably damaging	Het
Zxdc	A	G	6: 90,349,535 (GRCm39)	T308A	probably damaging	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
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
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'- AGCTACCCATTGGAGTCTGC -3'
(R):5'- GAGAATCTGAGAGACCCCACTC -3'

Sequencing Primer
(F):5'- ACCCATTGGAGTCTGCCTGTG -3'
(R):5'- GAGAGACCCCACTCAGCCTTC -3'

Posted On

2015-12-29