Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Ctnnb1'

376428

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

042479-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120762466-120789573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120782060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 358 (V358L)

Ref Sequence

ENSEMBL: ENSMUSP00000125763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007130] [ENSMUST00000130466] [ENSMUST00000130845] [ENSMUST00000145093] [ENSMUST00000178812] [ENSMUST00000154356] [ENSMUST00000163844]

AlphaFold

Q02248

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007130
AA Change: V358L

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007130
Gene: ENSMUSG00000006932
AA Change: V358L

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

noncoding transcript
Transcript: ENSMUST00000126633

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

noncoding transcript
Transcript: ENSMUST00000139138

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

possibly damaging
Transcript: ENSMUST00000178812
AA Change: V358L

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136294
Gene: ENSMUSG00000006932
AA Change: V358L

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

possibly damaging
Transcript: ENSMUST00000154356
AA Change: V358L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125763
Gene: ENSMUSG00000006932
AA Change: V358L

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

noncoding transcript
Transcript: ENSMUST00000154687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198187

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

noncoding transcript
Transcript: ENSMUST00000213408

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

Meta Mutation Damage Score

0.2173

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,161,488 (GRCm39)	K943N	probably damaging	Het
Abca13	G	A	11: 9,265,434 (GRCm39)		probably null	Het
Ankub1	A	G	3: 57,597,751 (GRCm39)	L73P	probably damaging	Het
Birc6	A	G	17: 74,893,007 (GRCm39)	I982V	probably benign	Het
Cabyr	G	T	18: 12,884,875 (GRCm39)	*454L	probably null	Het
Ccdc57	C	T	11: 120,794,344 (GRCm39)		probably null	Het
Cd209c	A	G	8: 3,994,077 (GRCm39)	F128L	probably benign	Het
Cdh23	A	T	10: 60,212,713 (GRCm39)	I1566N	probably damaging	Het
Cdon	T	C	9: 35,364,200 (GRCm39)	V106A	possibly damaging	Het
Cebpa	G	T	7: 34,819,246 (GRCm39)	G135C	probably damaging	Het
Cfap65	A	G	1: 74,958,420 (GRCm39)	S896P	probably benign	Het
Ciz1	T	C	2: 32,254,247 (GRCm39)	S63P	probably damaging	Het
Clybl	G	A	14: 122,621,618 (GRCm39)	V269M	probably damaging	Het
Cwh43	G	T	5: 73,586,016 (GRCm39)		probably null	Het
Cyp2d10	G	A	15: 82,287,967 (GRCm39)	R379C	probably benign	Het
Dab2ip	C	A	2: 35,610,049 (GRCm39)	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dock1	A	T	7: 134,335,800 (GRCm39)	I65F	probably damaging	Het
Ercc2	T	C	7: 19,120,732 (GRCm39)	V155A	probably damaging	Het
Exph5	A	C	9: 53,287,539 (GRCm39)	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,288,773 (GRCm39)	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,753,557 (GRCm39)	A517E	probably damaging	Het
Furin	A	T	7: 80,046,727 (GRCm39)	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,442,207 (GRCm39)		probably benign	Het
Gabrg2	A	T	11: 41,811,231 (GRCm39)	S305T	probably damaging	Het
Gas6	G	T	8: 13,525,086 (GRCm39)	S299R	possibly damaging	Het
Gga3	G	T	11: 115,477,111 (GRCm39)		probably benign	Het
Gle1	A	G	2: 29,826,032 (GRCm39)	E37G	possibly damaging	Het
Gm7964	A	G	7: 83,405,350 (GRCm39)	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,406,724 (GRCm39)	G695W	probably damaging	Het
H2-M10.6	A	T	17: 37,123,425 (GRCm39)	M40L	probably benign	Het
Hectd4	G	T	5: 121,460,735 (GRCm39)	V905L	possibly damaging	Het
Isyna1	C	A	8: 71,049,412 (GRCm39)	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,139,913 (GRCm39)	S933L	probably benign	Het
Knl1	T	C	2: 118,902,832 (GRCm39)	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Lipo4	C	T	19: 33,478,953 (GRCm39)		probably null	Het
Llgl1	T	A	11: 60,598,036 (GRCm39)	L360*	probably null	Het
Map2k5	G	A	9: 63,229,525 (GRCm39)	R169*	probably null	Het
Muc19	A	T	15: 91,781,910 (GRCm39)		noncoding transcript	Het
Muc4	G	A	16: 32,754,836 (GRCm38)		probably benign	Het
Myh4	A	G	11: 67,143,490 (GRCm39)	E1074G	probably damaging	Het
Naip5	C	T	13: 100,381,639 (GRCm39)	G210E	probably damaging	Het
Nalcn	A	G	14: 123,837,296 (GRCm39)	S23P	probably benign	Het
Nepro	T	A	16: 44,550,536 (GRCm39)	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,504,006 (GRCm39)	C704Y	probably damaging	Het
Notch1	A	G	2: 26,361,191 (GRCm39)	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,762,352 (GRCm39)	E133G	possibly damaging	Het
Obi1	A	G	14: 104,716,252 (GRCm39)	I707T	probably damaging	Het
Parp9	T	C	16: 35,777,274 (GRCm39)	L406S	probably damaging	Het
Peak1	G	T	9: 56,134,876 (GRCm39)	A155D	probably benign	Het
Piezo1	G	A	8: 123,214,284 (GRCm39)	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,632,811 (GRCm39)	V587A	probably benign	Het
Pkn2	A	G	3: 142,509,379 (GRCm39)	Y722H	probably damaging	Het
Plch2	A	T	4: 155,073,885 (GRCm39)	I834K	probably benign	Het
Pld1	A	G	3: 28,163,951 (GRCm39)	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,097,160 (GRCm39)	S103G	probably benign	Het
Ppl	T	C	16: 4,922,753 (GRCm39)	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,207,726 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443 (GRCm39)	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,580,631 (GRCm39)	K83*	probably null	Het
Rai1	T	C	11: 60,077,588 (GRCm39)	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,741,935 (GRCm39)	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,285,245 (GRCm39)		probably benign	Het
Rif1	T	A	2: 51,983,623 (GRCm39)		probably benign	Het
Rnf141	A	G	7: 110,424,557 (GRCm39)	Y101H	probably damaging	Het
Rttn	T	A	18: 89,061,138 (GRCm39)	L1102*	probably null	Het
Sall4	G	A	2: 168,597,637 (GRCm39)	S401F	probably damaging	Het
Saxo5	G	A	8: 3,537,148 (GRCm39)	S498N	probably damaging	Het
Sec11c	T	C	18: 65,934,541 (GRCm39)	I36T	probably benign	Het
Sel1l	A	G	12: 91,780,828 (GRCm39)		probably benign	Het
Setd1a	T	C	7: 127,396,776 (GRCm39)		probably benign	Het
Sez6l2	C	T	7: 126,561,014 (GRCm39)	P433L	probably benign	Het
Sgf29	T	C	7: 126,248,547 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,253,520 (GRCm39)	V305A	probably benign	Het
Slco1a8	T	C	6: 141,933,492 (GRCm39)	D431G	probably damaging	Het
Sun2	T	C	15: 79,612,587 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,830 (GRCm39)	S609G	probably benign	Het
Tmprss6	T	A	15: 78,327,880 (GRCm39)		probably null	Het
Tns1	T	C	1: 73,991,774 (GRCm39)	H968R	probably benign	Het
Tomm34	G	A	2: 163,896,637 (GRCm39)	A270V	probably damaging	Het
Tpo	T	C	12: 30,153,364 (GRCm39)	K330R	probably benign	Het
Ttn	T	A	2: 76,542,837 (GRCm39)	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,587,716 (GRCm39)	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691 (GRCm39)	R147H	probably benign	Het
Vps13d	A	G	4: 144,854,612 (GRCm39)	L2272P	probably damaging	Het
Wdfy3	A	G	5: 102,042,787 (GRCm39)	L1988P	probably damaging	Het
Wwc2	A	G	8: 48,373,713 (GRCm39)	F51S	probably damaging	Het
Zfp454	C	T	11: 50,763,980 (GRCm39)	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,274,048 (GRCm39)	V473E	probably damaging	Het
Zfp959	A	T	17: 56,204,228 (GRCm39)	R85S	possibly damaging	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
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
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'- GCAAGCTGGCTAAAGTTCTTACATG -3'
(R):5'- ATTCACAGGGCTGCTAGTGAG -3'

Sequencing Primer
(F):5'- ACATGTCCGGTAACTCAGTG -3'
(R):5'- TGCTAGTGAGGCCCAGC -3'

Posted On

2016-03-17