Mutagenetix > Incidental Mutation

Incidental Mutation 'R8796:Ctnnb1'

671267

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

068637-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8796 (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 120784498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 430 (N430S)

Ref Sequence

ENSEMBL: ENSMUSP00000007130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007130] [ENSMUST00000130466] [ENSMUST00000130845] [ENSMUST00000145093] [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: N430S

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

SMART Domains

Protein: ENSMUSP00000007130
Gene: ENSMUSG00000006932
AA Change: N430S

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

probably benign
Transcript: ENSMUST00000130466

Predicted Effect

probably benign
Transcript: ENSMUST00000130845

SMART Domains

Protein: ENSMUSP00000116365
Gene: ENSMUSG00000006932

Domain	Start	End	E-Value	Type
PDB:2Z6G\|A	1	80	2e-43	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000133689

SMART Domains

Protein: ENSMUSP00000128564
Gene: ENSMUSG00000006932

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: ENSMUST00000145093

SMART Domains

Protein: ENSMUSP00000120132
Gene: ENSMUSG00000006932

Domain	Start	End	E-Value	Type
PDB:2Z6G\|A	1	174	1e-113	PDB
SCOP:d1gw5a_	90	172	5e-8	SMART
Blast:ARM	141	174	4e-15	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000154356
AA Change: N430S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125763
Gene: ENSMUSG00000006932
AA Change: N430S

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: N430S

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

SMART Domains

Protein: ENSMUSP00000136294
Gene: ENSMUSG00000006932
AA Change: N430S

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

Meta Mutation Damage Score

0.5118

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,629,482 (GRCm39)	T182S	possibly damaging	Het
Abca12	A	C	1: 71,297,248 (GRCm39)		probably benign	Het
Aco1	T	A	4: 40,179,037 (GRCm39)	D345E	probably benign	Het
Acp6	T	C	3: 97,066,509 (GRCm39)	V9A	probably benign	Het
Akap1	A	C	11: 88,730,498 (GRCm39)	I597S	probably damaging	Het
B4galnt4	C	T	7: 140,647,488 (GRCm39)	T385I	probably damaging	Het
Bbof1	A	T	12: 84,460,068 (GRCm39)	T112S	possibly damaging	Het
Chd7	C	A	4: 8,838,691 (GRCm39)	H1297N	probably damaging	Het
Cldn15	T	C	5: 137,003,351 (GRCm39)	F147L	probably damaging	Het
Coq7	C	T	7: 118,126,640 (GRCm39)	E143K	probably damaging	Het
Cxcl12	G	T	6: 117,155,553 (GRCm39)	K92N	possibly damaging	Het
Dscaml1	T	C	9: 45,359,026 (GRCm39)	F95S	probably damaging	Het
Epha5	T	A	5: 84,255,850 (GRCm39)	H480L	probably damaging	Het
Fbxo30	G	A	10: 11,165,320 (GRCm39)	C14Y	probably damaging	Het
Gja5	A	G	3: 96,958,419 (GRCm39)	I159V	possibly damaging	Het
Herc2	A	T	7: 55,785,123 (GRCm39)	Q1487L	probably benign	Het
Hipk2	T	A	6: 38,675,158 (GRCm39)	Q1168L	probably damaging	Het
Kcnk12	T	A	17: 88,054,020 (GRCm39)	Y214F	probably damaging	Het
Kif5b	T	C	18: 6,226,965 (GRCm39)	K98E	probably benign	Het
Lama1	T	A	17: 68,117,146 (GRCm39)	N2480K		Het
Lrp1b	A	G	2: 40,793,426 (GRCm39)	C2610R		Het
Mast4	T	C	13: 102,919,899 (GRCm39)	Y536C	probably benign	Het
Ntrk1	A	G	3: 87,690,422 (GRCm39)	S407P	probably benign	Het
Ogdh	T	A	11: 6,297,129 (GRCm39)	M527K	possibly damaging	Het
Or51b6	T	C	7: 103,556,201 (GRCm39)	V182A		Het
Or5m9b	G	A	2: 85,905,518 (GRCm39)	V145M	possibly damaging	Het
Plxdc1	A	G	11: 97,847,407 (GRCm39)	S89P	probably benign	Het
Prdm2	A	G	4: 142,860,017 (GRCm39)	I1091T	probably benign	Het
Psg16	C	A	7: 16,827,814 (GRCm39)	H166N	possibly damaging	Het
Qrfpr	T	A	3: 36,234,345 (GRCm39)	Y332F	probably damaging	Het
Rab31	A	T	17: 66,079,529 (GRCm39)	I4K	possibly damaging	Het
Ranbp10	C	A	8: 106,499,665 (GRCm39)		probably benign	Het
Rasgrf2	T	C	13: 92,038,685 (GRCm39)	S453G		Het
Rxfp2	C	T	5: 149,942,262 (GRCm39)		probably benign	Het
S100a8	A	G	3: 90,576,865 (GRCm39)	E6G	probably damaging	Het
Sart1	T	C	19: 5,438,376 (GRCm39)	K94E	probably damaging	Het
Sema4d	A	T	13: 51,865,546 (GRCm39)	F297I	probably damaging	Het
Sgk2	A	G	2: 162,848,723 (GRCm39)	K287E	probably damaging	Het
Sgsm1	T	A	5: 113,411,123 (GRCm39)	T868S	probably benign	Het
Skint6	G	T	4: 112,661,891 (GRCm39)	T1231K	possibly damaging	Het
Slc35b3	C	T	13: 39,121,722 (GRCm39)		probably benign	Het
Slf1	A	T	13: 77,214,784 (GRCm39)	M634K	probably benign	Het
Slit2	A	G	5: 48,460,190 (GRCm39)	D1424G	probably benign	Het
Snx21	G	A	2: 164,628,749 (GRCm39)	V131I	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tas1r3	A	G	4: 155,945,848 (GRCm39)	V516A	probably benign	Het
Tas2r120	A	T	6: 132,634,081 (GRCm39)	R54S	probably damaging	Het
Tmem109	A	T	19: 10,849,995 (GRCm39)	L99Q	probably damaging	Het
Tnfrsf1b	A	G	4: 144,946,485 (GRCm39)	S309P	possibly damaging	Het
Trav11	C	T	14: 53,757,227 (GRCm39)	A85V	probably benign	Het
Trp53	G	A	11: 69,480,434 (GRCm39)	R267H	possibly damaging	Het
Ttn	G	A	2: 76,653,314 (GRCm39)	R12631C	possibly damaging	Het
Vmn2r10	T	A	5: 109,143,917 (GRCm39)	T678S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,933 (GRCm39)	M209T	possibly damaging	Het
Vmn2r24	A	T	6: 123,757,500 (GRCm39)	M123L	probably benign	Het
Wdr41	T	G	13: 95,151,575 (GRCm39)	L245R	possibly damaging	Het
Wwp2	G	T	8: 108,283,189 (GRCm39)	G814W	probably null	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
R8978:Ctnnb1	UTSW	9	120,786,650 (GRCm39)	missense	probably damaging	0.99
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'- AAGTTGCTGCCTTGGCACTAG -3'
(R):5'- TATCAGAGGCCAGTGGGATG -3'

Sequencing Primer
(F):5'- ACTAGGGTCTGCATGAGCTC -3'
(R):5'- TGGGTGCAGGAGTTTAACCAC -3'

Posted On

2021-04-30