Mutagenetix > Incidental Mutation

Incidental Mutation 'R4210:Axin2'

319147

Institutional Source

Beutler Lab

Gene Symbol

Axin2

Ensembl Gene

ENSMUSG00000000142

Gene Name

axin 2

Synonyms

Axil, Conductin

MMRRC Submission

041039-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4210 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108811175-108841609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108833402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 529 (I529N)

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: I529N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051331
Gene: ENSMUSG00000000142
AA Change: I529N

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

possibly damaging
Transcript: ENSMUST00000106711
AA Change: I529N

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102322
Gene: ENSMUSG00000000142
AA Change: I529N

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,490,222 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,708 (GRCm39)	Y1076H	probably damaging	Het
Adamts7	C	T	9: 90,076,063 (GRCm39)	T1265I	possibly damaging	Het
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Bbof1	T	C	12: 84,455,957 (GRCm39)	M1T	probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cmpk2	G	T	12: 26,519,570 (GRCm39)	A74S	probably benign	Het
Colgalt1	G	A	8: 72,075,350 (GRCm39)	V419I	probably benign	Het
Crybg3	A	G	16: 59,364,414 (GRCm39)	S2403P	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,632 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,176,578 (GRCm39)	C733S	possibly damaging	Het
Drc1	G	A	5: 30,504,490 (GRCm39)	V211M	possibly damaging	Het
Ephx2	T	C	14: 66,322,393 (GRCm39)	T525A	probably damaging	Het
Eya4	A	G	10: 23,102,698 (GRCm39)		probably null	Het
Foxc1	T	C	13: 31,991,690 (GRCm39)	F167S	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
Gm6370	C	A	5: 146,430,734 (GRCm39)	F306L	possibly damaging	Het
Hmgcr	A	G	13: 96,796,729 (GRCm39)	V187A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,242 (GRCm39)	S114R	possibly damaging	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Ikzf3	T	C	11: 98,381,313 (GRCm39)	Y89C	probably benign	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Iqsec3	T	C	6: 121,389,999 (GRCm39)		probably benign	Het
Itga3	C	A	11: 94,953,449 (GRCm39)	V298L	probably benign	Het
Kel	C	T	6: 41,675,359 (GRCm39)	W297*	probably null	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lbh	T	A	17: 73,228,178 (GRCm39)		probably null	Het
Lrba	G	A	3: 86,267,433 (GRCm39)	G1708S	probably damaging	Het
Lrig2	C	T	3: 104,374,620 (GRCm39)	V154I	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mast4	A	T	13: 102,875,713 (GRCm39)	F1318L	probably damaging	Het
Ncam2	T	C	16: 81,323,991 (GRCm39)	V545A	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Or2w1	A	T	13: 21,317,607 (GRCm39)	I221L	possibly damaging	Het
Or6n2	G	A	1: 173,897,574 (GRCm39)	A237T	probably damaging	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Pdlim4	T	G	11: 53,946,744 (GRCm39)	D181A	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Pik3r4	G	A	9: 105,527,957 (GRCm39)	A437T	possibly damaging	Het
Proser3	G	A	7: 30,245,525 (GRCm39)		probably benign	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Rnf152	A	G	1: 105,212,077 (GRCm39)	V160A	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sidt2	T	C	9: 45,854,073 (GRCm39)	T652A	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Sspo	C	A	6: 48,441,835 (GRCm39)	H1948Q	probably benign	Het
Stap2	G	T	17: 56,304,827 (GRCm39)	Y318*	probably null	Het
Sytl1	T	C	4: 132,980,876 (GRCm39)	D421G	probably damaging	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tenm3	C	T	8: 48,802,439 (GRCm39)	G374D	probably damaging	Het
Terf2	A	G	8: 107,806,080 (GRCm39)	S291P	probably damaging	Het
Tex16	T	A	X: 111,030,640 (GRCm39)	D1046E	probably benign	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Tnxb	T	C	17: 34,929,951 (GRCm39)	I2895T	possibly damaging	Het
Tsbp1	G	T	17: 34,679,257 (GRCm39)		probably benign	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Uxs1	T	A	1: 43,789,398 (GRCm39)	H419L	possibly damaging	Het
Vmn1r152	A	T	7: 22,223,004 (GRCm39)	T205S	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Zc3h14	A	G	12: 98,751,658 (GRCm39)	H199R	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	Het
Zfp976	A	G	7: 42,265,749 (GRCm39)	F12S	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
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'- CCATTTTGGACGACCACCTC -3'
(R):5'- ACAGCCCGTACTGCAACTTC -3'

Sequencing Primer
(F):5'- TCTCCAGGGTCCTCAAGAC -3'
(R):5'- GTACTGCAACTTCCGCCAGAG -3'

Posted On

2015-06-10