Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03249:Ctnnd2'

414514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctnnd2

Ensembl Gene

ENSMUSG00000022240

Gene Name

catenin delta 2

Synonyms

Nprap, Catnd2, neurojugin, catenin (cadherin associated protein), delta 2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03249

Quality Score

Status

Chromosome

Chromosomal Location

30172739-31029487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30683382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 461 (D461G)

Ref Sequence

ENSEMBL: ENSMUSP00000080427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081728] [ENSMUST00000226119]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081728
AA Change: D461G

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: D461G

Domain	Start	End	E-Value	Type
coiled coil region	50	84	N/A	INTRINSIC
low complexity region	87	97	N/A	INTRINSIC
low complexity region	148	159	N/A	INTRINSIC
low complexity region	216	230	N/A	INTRINSIC
low complexity region	238	257	N/A	INTRINSIC
ARM	577	617	1.85e-8	SMART
ARM	621	662	1.15e-9	SMART
ARM	663	720	1.51e1	SMART
ARM	722	769	2.74e1	SMART
ARM	830	871	4.88e0	SMART
ARM	902	942	2.76e-7	SMART
low complexity region	964	973	N/A	INTRINSIC
ARM	995	1039	5.64e-4	SMART
low complexity region	1086	1099	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226119
AA Change: D461G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227065

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal conditioning, spatial learning and coordination behaviors and abnormal long term potentiation. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	A	G	7: 43,900,149 (GRCm39)	Y18C	probably damaging	Het
Abcc4	A	G	14: 118,865,118 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,381,787 (GRCm39)	K202E	probably benign	Het
Aoc1l3	A	T	6: 48,965,303 (GRCm39)	H437L	probably benign	Het
Arid2	A	T	15: 96,299,846 (GRCm39)	R1786S	probably damaging	Het
Atp2a1	C	T	7: 126,061,977 (GRCm39)	E40K	probably benign	Het
Cdc23	A	G	18: 34,777,069 (GRCm39)		probably benign	Het
Galntl6	G	T	8: 58,230,210 (GRCm39)		probably benign	Het
Gcc2	T	A	10: 58,106,814 (GRCm39)	Y583*	probably null	Het
Or11g7	T	C	14: 50,690,668 (GRCm39)	V53A	probably damaging	Het
Plekhg2	C	A	7: 28,067,427 (GRCm39)	R281L	probably damaging	Het
Rbm27	A	G	18: 42,434,812 (GRCm39)	D292G	probably damaging	Het
Ryr3	A	T	2: 112,471,001 (GRCm39)	M4594K	probably benign	Het
Sec22a	T	C	16: 35,168,133 (GRCm39)	Y126C	probably damaging	Het
Svopl	T	C	6: 37,993,988 (GRCm39)	T348A	probably benign	Het
Tecta	T	C	9: 42,303,182 (GRCm39)	E150G	probably benign	Het
Ttc8	T	G	12: 98,910,080 (GRCm39)		probably benign	Het
Zfp51	T	A	17: 21,683,701 (GRCm39)	N105K	probably damaging	Het

Other mutations in Ctnnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Ctnnd2	APN	15	30,647,287 (GRCm39)	missense	possibly damaging	0.73
IGL01612:Ctnnd2	APN	15	31,005,164 (GRCm39)	missense	probably damaging	1.00
IGL01923:Ctnnd2	APN	15	30,480,974 (GRCm39)	missense	probably damaging	0.99
IGL02183:Ctnnd2	APN	15	31,020,886 (GRCm39)	missense	probably damaging	1.00
IGL02186:Ctnnd2	APN	15	30,480,939 (GRCm39)	missense	probably damaging	0.99
IGL02226:Ctnnd2	APN	15	30,847,482 (GRCm39)	missense	probably benign	0.01
IGL02307:Ctnnd2	APN	15	30,647,357 (GRCm39)	missense	possibly damaging	0.86
IGL02407:Ctnnd2	APN	15	30,966,914 (GRCm39)	missense	probably damaging	1.00
IGL02474:Ctnnd2	APN	15	30,669,708 (GRCm39)	missense	possibly damaging	0.71
IGL02718:Ctnnd2	APN	15	31,027,762 (GRCm39)	missense	probably damaging	1.00
IGL03328:Ctnnd2	APN	15	30,921,993 (GRCm39)	splice site	probably benign
carpe	UTSW	15	30,905,966 (GRCm39)	missense	probably damaging	1.00
diem	UTSW	15	30,683,493 (GRCm39)	missense	possibly damaging	0.85
P0016:Ctnnd2	UTSW	15	30,967,084 (GRCm39)	missense	probably benign	0.00
R0130:Ctnnd2	UTSW	15	30,922,059 (GRCm39)	missense	probably damaging	1.00
R0408:Ctnnd2	UTSW	15	30,634,823 (GRCm39)	missense	probably damaging	1.00
R0611:Ctnnd2	UTSW	15	31,009,230 (GRCm39)	missense	possibly damaging	0.75
R0894:Ctnnd2	UTSW	15	30,332,301 (GRCm39)	splice site	probably benign
R1112:Ctnnd2	UTSW	15	30,922,026 (GRCm39)	missense	probably damaging	1.00
R1459:Ctnnd2	UTSW	15	30,847,445 (GRCm39)	missense	probably damaging	1.00
R1529:Ctnnd2	UTSW	15	30,887,267 (GRCm39)	missense	possibly damaging	0.91
R1532:Ctnnd2	UTSW	15	30,922,014 (GRCm39)	missense	probably damaging	1.00
R1701:Ctnnd2	UTSW	15	30,922,127 (GRCm39)	missense	probably damaging	1.00
R1807:Ctnnd2	UTSW	15	30,620,017 (GRCm39)	missense	probably damaging	1.00
R1881:Ctnnd2	UTSW	15	31,005,227 (GRCm39)	splice site	probably benign
R1960:Ctnnd2	UTSW	15	30,647,257 (GRCm39)	missense	probably damaging	0.96
R2121:Ctnnd2	UTSW	15	30,669,660 (GRCm39)	missense	probably damaging	1.00
R3839:Ctnnd2	UTSW	15	31,009,174 (GRCm39)	splice site	probably null
R3967:Ctnnd2	UTSW	15	30,647,075 (GRCm39)	missense	possibly damaging	0.81
R3980:Ctnnd2	UTSW	15	30,669,589 (GRCm39)	missense	probably benign	0.14
R4207:Ctnnd2	UTSW	15	30,972,973 (GRCm39)	missense	probably damaging	0.99
R4279:Ctnnd2	UTSW	15	30,905,966 (GRCm39)	missense	probably damaging	1.00
R4498:Ctnnd2	UTSW	15	30,620,020 (GRCm39)	missense	probably damaging	1.00
R4622:Ctnnd2	UTSW	15	31,009,259 (GRCm39)	missense	probably benign	0.00
R4622:Ctnnd2	UTSW	15	30,887,315 (GRCm39)	missense	probably benign	0.17
R4860:Ctnnd2	UTSW	15	30,881,313 (GRCm39)	missense	probably damaging	1.00
R4860:Ctnnd2	UTSW	15	30,881,313 (GRCm39)	missense	probably damaging	1.00
R4979:Ctnnd2	UTSW	15	31,009,221 (GRCm39)	missense	probably damaging	1.00
R5086:Ctnnd2	UTSW	15	30,683,493 (GRCm39)	missense	possibly damaging	0.85
R5330:Ctnnd2	UTSW	15	30,332,261 (GRCm39)	missense	probably damaging	1.00
R5459:Ctnnd2	UTSW	15	30,887,334 (GRCm39)	missense	probably damaging	1.00
R5595:Ctnnd2	UTSW	15	30,669,689 (GRCm39)	missense	probably benign	0.07
R5809:Ctnnd2	UTSW	15	30,847,523 (GRCm39)	missense	probably damaging	1.00
R5987:Ctnnd2	UTSW	15	30,683,387 (GRCm39)	missense	probably benign
R6245:Ctnnd2	UTSW	15	30,905,894 (GRCm39)	missense	probably damaging	1.00
R6379:Ctnnd2	UTSW	15	30,634,844 (GRCm39)	missense	probably damaging	1.00
R6737:Ctnnd2	UTSW	15	30,966,980 (GRCm39)	nonsense	probably null
R6979:Ctnnd2	UTSW	15	30,619,376 (GRCm39)	missense	probably damaging	0.99
R7133:Ctnnd2	UTSW	15	30,480,995 (GRCm39)	missense	possibly damaging	0.47
R7179:Ctnnd2	UTSW	15	30,683,510 (GRCm39)	missense	possibly damaging	0.95
R7267:Ctnnd2	UTSW	15	30,683,501 (GRCm39)	missense	probably benign	0.13
R7275:Ctnnd2	UTSW	15	30,905,855 (GRCm39)	missense	possibly damaging	0.94
R7386:Ctnnd2	UTSW	15	30,966,914 (GRCm39)	missense	probably damaging	1.00
R7649:Ctnnd2	UTSW	15	31,027,630 (GRCm39)	missense	probably benign	0.11
R7814:Ctnnd2	UTSW	15	31,020,874 (GRCm39)	missense	probably benign	0.00
R7849:Ctnnd2	UTSW	15	31,027,733 (GRCm39)	missense	probably damaging	1.00
R7857:Ctnnd2	UTSW	15	30,620,076 (GRCm39)	missense	probably benign	0.01
R8057:Ctnnd2	UTSW	15	30,847,497 (GRCm39)	missense	possibly damaging	0.89
R8236:Ctnnd2	UTSW	15	30,647,164 (GRCm39)	missense	probably benign
R8260:Ctnnd2	UTSW	15	30,634,879 (GRCm39)	missense	possibly damaging	0.84
R8411:Ctnnd2	UTSW	15	30,647,179 (GRCm39)	missense	probably benign	0.33
R8802:Ctnnd2	UTSW	15	30,967,022 (GRCm39)	missense	probably damaging	1.00
R8891:Ctnnd2	UTSW	15	30,620,076 (GRCm39)	missense	probably benign	0.01
R8907:Ctnnd2	UTSW	15	30,905,873 (GRCm39)	missense	probably damaging	1.00
R8989:Ctnnd2	UTSW	15	30,669,660 (GRCm39)	missense	probably damaging	1.00
R9017:Ctnnd2	UTSW	15	30,881,316 (GRCm39)	missense	probably damaging	0.96
R9035:Ctnnd2	UTSW	15	30,332,162 (GRCm39)	missense	possibly damaging	0.77
R9061:Ctnnd2	UTSW	15	30,806,884 (GRCm39)	missense	probably damaging	1.00
R9303:Ctnnd2	UTSW	15	30,967,037 (GRCm39)	missense	probably damaging	0.99
R9475:Ctnnd2	UTSW	15	30,881,276 (GRCm39)	missense	probably damaging	1.00
Z1088:Ctnnd2	UTSW	15	30,966,959 (GRCm39)	missense	probably benign	0.28

Posted On

2016-08-02