Mutagenetix > Incidental Mutation

Incidental Mutation 'R8978:Ctnnb1'

683575

Institutional Source

Beutler Lab

Gene Symbol

Ctnnb1

Ensembl Gene

ENSMUSG00000006932

Gene Name

catenin beta 1

Synonyms

Catnb, beta catenin, beta-catenin, catenin (cadherin associated protein), beta 1

MMRRC Submission

068811-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8978 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120762466-120789573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120786650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 624 (D624G)

Ref Sequence

ENSEMBL: ENSMUSP00000007130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007130] [ENSMUST00000154356] [ENSMUST00000163844] [ENSMUST00000178812]

AlphaFold

Q02248

PDB Structure

CRYSTAL STRUCTURE OF A CHIMERA OF BETA-CATENIN AND ALPHA-CATENIN [X-RAY DIFFRACTION]
BETA-CATENIN/PHOSPHORYLATED E-CADHERIN COMPLEX [X-RAY DIFFRACTION]
BETA-CATENIN/E-CADHERIN COMPLEX [X-RAY DIFFRACTION]
The Structure of a beta-Catenin Binding Repeat from Adenomatous Polyposis Coli (APC) in Complex with beta-Catenin [X-RAY DIFFRACTION]
Beta-catenin armadillo repeat domain bound to ICAT [X-RAY DIFFRACTION]
THE CRYSTAL STRUCTURE OF BETA-CATENIN ARMADILLO REPEAT COMPLEXED WITH A PHOSPHORYLATED APC 20MER REPEAT. [X-RAY DIFFRACTION]
THE ARMADILLO REPEAT REGION FROM MURINE BETA-CATENIN [X-RAY DIFFRACTION]
THE ARMADILLO REPEAT REGION FROM MURINE BETA-CATENIN [X-RAY DIFFRACTION]
Structure of beta-catenin with Lef-1 [X-RAY DIFFRACTION]
Structure of beta-catenin with phosphorylated Lef-1 [X-RAY DIFFRACTION]
>> 6 additional structures at PDB <<

Predicted Effect

probably damaging
Transcript: ENSMUST00000007130
AA Change: D624G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007130
Gene: ENSMUSG00000006932
AA Change: D624G

Domain	Start	End	E-Value	Type
ARM	141	180	1.92e1	SMART
ARM	181	223	6.29e-2	SMART
ARM	224	264	1.23e-4	SMART
ARM	265	306	7.34e-3	SMART
ARM	308	349	2.48e0	SMART
ARM	350	390	1.48e-7	SMART
ARM	392	429	3.18e1	SMART
ARM	430	473	1.54e-5	SMART
ARM	478	519	7.34e-3	SMART
ARM	520	582	3.34e-6	SMART
ARM	583	623	2.82e-4	SMART
ARM	624	664	1.78e-1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000128564
Gene: ENSMUSG00000006932
AA Change: D82G

Domain	Start	End	E-Value	Type
Blast:ARM	2	41	2e-20	BLAST
Pfam:Arm	42	82	4.4e-9	PFAM
Blast:ARM	83	123	9e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154356

SMART Domains

Protein: ENSMUSP00000125763
Gene: ENSMUSG00000006932

Domain	Start	End	E-Value	Type
ARM	141	180	1.92e1	SMART
ARM	181	223	6.29e-2	SMART
ARM	224	264	1.23e-4	SMART
ARM	265	306	7.34e-3	SMART
ARM	308	349	2.48e0	SMART
ARM	350	390	1.48e-7	SMART
ARM	392	429	3.18e1	SMART
ARM	430	473	1.54e-5	SMART
ARM	478	519	7.34e-3	SMART
ARM	520	562	3e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163844

SMART Domains

Protein: ENSMUSP00000126905
Gene: ENSMUSG00000006932

Domain	Start	End	E-Value	Type
PDB:2Z6G\|A	1	72	2e-37	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000169931

SMART Domains

Protein: ENSMUSP00000128858
Gene: ENSMUSG00000006932

Domain	Start	End	E-Value	Type
ARM	2	36	3.8e1	SMART
ARM	41	82	7.34e-3	SMART
ARM	83	144	1.92e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170729

SMART Domains

Protein: ENSMUSP00000130471
Gene: ENSMUSG00000006932

Domain	Start	End	E-Value	Type
Blast:ARM	2	35	4e-15	BLAST
PDB:3SLA\|E	2	87	1e-57	PDB
SCOP:d1jdha_	2	89	2e-12	SMART
Blast:ARM	36	78	2e-23	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000178812
AA Change: D624G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136294
Gene: ENSMUSG00000006932
AA Change: D624G

Domain	Start	End	E-Value	Type
ARM	141	180	1.92e1	SMART
ARM	181	223	6.29e-2	SMART
ARM	224	264	1.23e-4	SMART
ARM	265	306	7.34e-3	SMART
ARM	308	349	2.48e0	SMART
ARM	350	390	1.48e-7	SMART
ARM	392	429	3.18e1	SMART
ARM	430	473	1.54e-5	SMART
ARM	478	519	7.34e-3	SMART
ARM	520	582	3.34e-6	SMART
ARM	583	623	2.82e-4	SMART
ARM	624	664	1.78e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: This gene encodes not only an important cytoplasmic component of the classical cadherin adhesion complex that forms the adherens junction in epithelia and mediates cell-cell adhesion in many other tissues but also a key signaling molecule in the canonical Wnt signaling pathway that controls cell growth and differentiation during both normal development and tumorigenesis. The gene product contains a central armadillo-repeat containing domain through which it binds the cytoplasmic tail of classical cadherins; meanwhile, it also binds alpha-catenin, which further links the cadherin complex to the actin cytoskeleton either directly or indirectly. Beta-catenin is therefore necessary for the adhesive function of classical cadherins. Another key function of this protein is to mediate the canonical Wnt signaling pathway and regulate gene transcription. Without Wnt signal, cytoplasmic beta-catenin that is not associated with the cadherin complex is quickly phosphorylated at the N-terminal Ser/Thr residues by the so called degradation complex containing axin, adenomatous polyposis coli (APC), casein kinase I, and GSK3B, then ubiquitylated by beta-TrCP, and degraded by the proteasome. However, in the presence of Wnt signal, the degradation complex is disrupted and the stabilized cytoplasmic beta-catenin translocates into the nucleus, where it binds various transcription factors and, together with these factors, regulates the transcription of many downstream genes. Mutations of this gene have been linked with various types of tumors. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null embryos show anterior-posterior axis formation anomalies, but develop to E7. Multiple conditional mutations have shown defects in distinct stem cell types that result in proliferation defects, such as intestinal polyps, brain and spinal cord size anomalies, etc. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,192,395 (GRCm39)	F224L	probably benign	Het
Adam39	A	G	8: 41,278,707 (GRCm39)	D366G	probably damaging	Het
Adamts14	T	A	10: 61,038,795 (GRCm39)	E902V	probably damaging	Het
Adamts6	T	C	13: 104,512,247 (GRCm39)	C490R	probably damaging	Het
Btbd3	T	C	2: 138,126,055 (GRCm39)	V413A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,813,197 (GRCm39)	N403K	probably damaging	Het
Cdc27	C	T	11: 104,399,211 (GRCm39)	V734I	possibly damaging	Het
Celf3	A	G	3: 94,392,667 (GRCm39)	D122G	probably benign	Het
Chgb	T	C	2: 132,634,498 (GRCm39)	S147P	probably benign	Het
Col9a1	G	A	1: 24,278,396 (GRCm39)	G808D	probably damaging	Het
Cpne7	A	G	8: 123,861,177 (GRCm39)		probably null	Het
Crhr1	T	C	11: 104,064,480 (GRCm39)	F330S	possibly damaging	Het
Csmd1	A	C	8: 15,971,056 (GRCm39)	N3086K	probably benign	Het
Dcaf8	G	A	1: 172,022,124 (GRCm39)	R554H	probably benign	Het
Dmbt1	T	C	7: 130,639,611 (GRCm39)	Y50H	possibly damaging	Het
Dmxl1	T	C	18: 50,055,679 (GRCm39)	L2573P	probably benign	Het
Ebf2	G	A	14: 67,661,548 (GRCm39)	G559S	probably benign	Het
Fancd2	A	G	6: 113,562,507 (GRCm39)		probably benign	Het
Fkbp10	A	T	11: 100,313,936 (GRCm39)	I427F	probably benign	Het
Gipc1	T	C	8: 84,389,046 (GRCm39)		probably null	Het
Gm1110	A	T	9: 26,807,095 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,731,455 (GRCm39)	L359P	probably damaging	Het
Hspg2	A	G	4: 137,291,341 (GRCm39)	D3897G	probably benign	Het
Ift122	T	A	6: 115,902,769 (GRCm39)	M1117K	possibly damaging	Het
Itgbl1	A	T	14: 124,209,617 (GRCm39)	D456V	probably damaging	Het
Itprid2	T	A	2: 79,491,257 (GRCm39)	L1014Q	probably damaging	Het
Kctd1	G	T	18: 15,119,491 (GRCm39)	L675I		Het
Kyat3	C	T	3: 142,443,596 (GRCm39)	T403M	probably benign	Het
Ltbp2	T	C	12: 84,834,164 (GRCm39)	T1442A	probably benign	Het
Mier2	A	C	10: 79,376,790 (GRCm39)	S45R	unknown	Het
Mon2	T	A	10: 122,871,469 (GRCm39)	K383*	probably null	Het
Mroh4	G	T	15: 74,499,473 (GRCm39)	T136K	probably benign	Het
Mtif3	A	T	5: 146,895,846 (GRCm39)	S80R	probably benign	Het
Myh2	A	C	11: 67,068,188 (GRCm39)	E272A	probably damaging	Het
Myh2	A	G	11: 67,080,323 (GRCm39)	Q1179R	probably damaging	Het
Nfatc3	G	A	8: 106,835,402 (GRCm39)	C916Y	probably benign	Het
Or13a17	A	T	7: 140,271,642 (GRCm39)	T275S	probably benign	Het
Or2w2	T	A	13: 21,758,279 (GRCm39)	T116S	probably benign	Het
Or7g21	T	A	9: 19,032,582 (GRCm39)	C107*	probably null	Het
Orc2	T	C	1: 58,511,499 (GRCm39)	D370G	possibly damaging	Het
Pate7	A	T	9: 35,688,069 (GRCm39)		probably benign	Het
Pcdhga6	T	A	18: 37,840,716 (GRCm39)	N145K	probably benign	Het
Pih1d2	A	G	9: 50,536,232 (GRCm39)	M296V	probably benign	Het
Prickle4	A	T	17: 47,999,772 (GRCm39)		probably benign	Het
Rabl6	G	A	2: 25,477,541 (GRCm39)	P303L	probably damaging	Het
Rara	T	G	11: 98,862,595 (GRCm39)	I332S	probably damaging	Het
Reln	A	G	5: 22,090,512 (GRCm39)	F3449L	possibly damaging	Het
Rhoq	T	C	17: 87,271,767 (GRCm39)	L61P		Het
Rigi	A	G	4: 40,239,650 (GRCm39)	I16T	probably damaging	Het
Slc6a15	G	A	10: 103,230,953 (GRCm39)	W226*	probably null	Het
Spef2	A	T	15: 9,725,263 (GRCm39)	S165T	possibly damaging	Het
Stab2	T	C	10: 86,785,782 (GRCm39)	N620S	possibly damaging	Het
Suds3	A	G	5: 117,232,973 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,682,900 (GRCm39)	I15T	possibly damaging	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tgfbi	C	A	13: 56,778,391 (GRCm39)	D387E	probably benign	Het
Thrb	T	C	14: 17,981,886 (GRCm38)	C4R	possibly damaging	Het
Tk2	A	G	8: 104,957,809 (GRCm39)	V179A	possibly damaging	Het
Trim25	T	C	11: 88,907,027 (GRCm39)	V462A	probably benign	Het
Tub	T	C	7: 108,629,393 (GRCm39)	Y483H	probably damaging	Het
Vav1	A	G	17: 57,603,710 (GRCm39)	T131A	probably benign	Het
Vav1	A	G	17: 57,631,650 (GRCm39)	T781A	probably benign	Het
Zbtb34	A	G	2: 33,301,048 (GRCm39)	S498P	possibly damaging	Het
Zfp568	T	A	7: 29,716,683 (GRCm39)	H194Q	probably benign	Het
Zfp683	A	T	4: 133,781,239 (GRCm39)	Q18L	probably benign	Het

Other mutations in Ctnnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0092:Ctnnb1	UTSW	9	120,781,929 (GRCm39)	missense	possibly damaging	0.78
R0326:Ctnnb1	UTSW	9	120,780,778 (GRCm39)	missense	probably benign	0.01
R0561:Ctnnb1	UTSW	9	120,780,788 (GRCm39)	missense	probably damaging	0.97
R1017:Ctnnb1	UTSW	9	120,779,794 (GRCm39)	missense	probably damaging	0.99
R1918:Ctnnb1	UTSW	9	120,780,100 (GRCm39)	missense	possibly damaging	0.80
R3892:Ctnnb1	UTSW	9	120,779,580 (GRCm39)	splice site	probably benign
R3915:Ctnnb1	UTSW	9	120,784,717 (GRCm39)	missense	probably benign	0.00
R4869:Ctnnb1	UTSW	9	120,782,060 (GRCm39)	missense	possibly damaging	0.93
R5707:Ctnnb1	UTSW	9	120,784,234 (GRCm39)	missense	probably benign	0.01
R6744:Ctnnb1	UTSW	9	120,782,025 (GRCm39)	missense	probably damaging	0.99
R7466:Ctnnb1	UTSW	9	120,784,482 (GRCm39)	missense	probably damaging	1.00
R7707:Ctnnb1	UTSW	9	120,781,931 (GRCm39)	missense	possibly damaging	0.77
R8434:Ctnnb1	UTSW	9	120,786,628 (GRCm39)	missense	possibly damaging	0.82
R8796:Ctnnb1	UTSW	9	120,784,498 (GRCm39)	missense	probably damaging	1.00
R9058:Ctnnb1	UTSW	9	120,780,476 (GRCm39)	nonsense	probably null
R9309:Ctnnb1	UTSW	9	120,784,504 (GRCm39)	missense	probably benign	0.03
R9712:Ctnnb1	UTSW	9	120,784,895 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCACATAGCCATGTAGGTGC -3'
(R):5'- TCCTCAGACATTCGGAATAGGAC -3'

Sequencing Primer
(F):5'- CATGTAGGTGCTGCTGACACTC -3'
(R):5'- TTCGGAATAGGACAGCAGCTGC -3'

Posted On

2021-10-11