Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01612:Ctnnd2'

92154

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 #

IGL01612

Quality Score

Status

Chromosome

Chromosomal Location

30172739-31029487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31005164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1073 (S1073P)

Ref Sequence

ENSEMBL: ENSMUSP00000080427 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000081728
AA Change: S1073P

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

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: S1073P

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 damaging
Transcript: ENSMUST00000226119
AA Change: S1048P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227029

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,988 (GRCm39)	T1326A	possibly damaging	Het
Afg3l1	C	T	8: 124,221,592 (GRCm39)	R484C	probably benign	Het
Atg2a	C	A	19: 6,302,514 (GRCm39)	Q946K	probably benign	Het
Cdh20	T	C	1: 104,921,895 (GRCm39)	Y731H	probably benign	Het
Cdk15	A	G	1: 59,328,932 (GRCm39)	D282G	possibly damaging	Het
Dnah2	T	C	11: 69,355,889 (GRCm39)		probably benign	Het
Evi2a	T	A	11: 79,417,978 (GRCm39)	R211W	probably damaging	Het
Fmo1	T	A	1: 162,661,168 (GRCm39)	I372F	probably benign	Het
Glyctk	T	C	9: 106,032,471 (GRCm39)	D514G	probably damaging	Het
Gmnc	G	A	16: 26,779,069 (GRCm39)	Q313*	probably null	Het
Grik1	T	C	16: 87,743,623 (GRCm39)	T520A	probably damaging	Het
Gtsf2	A	T	15: 103,353,340 (GRCm39)	C9S	probably damaging	Het
Ift80	T	G	3: 68,870,996 (GRCm39)	N200T	possibly damaging	Het
Ints1	A	G	5: 139,742,047 (GRCm39)	S1771P	probably benign	Het
Lrba	A	G	3: 86,683,484 (GRCm39)	T2769A	possibly damaging	Het
Lrfn2	G	T	17: 49,377,425 (GRCm39)	V169L	possibly damaging	Het
Mei1	G	A	15: 81,973,753 (GRCm39)	R80H	probably damaging	Het
Nbeal2	A	T	9: 110,473,746 (GRCm39)	V31E	probably damaging	Het
Ncapd2	G	T	6: 125,154,835 (GRCm39)	P546T	probably benign	Het
Or52l1	A	G	7: 104,829,929 (GRCm39)	V212A	probably damaging	Het
Pan3	T	C	5: 147,390,052 (GRCm39)		probably benign	Het
Rab3b	T	A	4: 108,781,223 (GRCm39)		probably null	Het
Rabl2	T	C	15: 89,467,615 (GRCm39)	K119E	probably benign	Het
Reln	A	G	5: 22,101,928 (GRCm39)	V3334A	probably damaging	Het
Rfx1	A	G	8: 84,819,601 (GRCm39)		probably null	Het
Rhod	T	C	19: 4,476,247 (GRCm39)	Y168C	probably damaging	Het
Sag	T	C	1: 87,733,071 (GRCm39)	I13T	probably damaging	Het
Sat2	T	C	11: 69,513,789 (GRCm39)		probably null	Het
Scn5a	A	T	9: 119,315,091 (GRCm39)	D1872E	possibly damaging	Het
Sh2b2	T	G	5: 136,260,656 (GRCm39)	I187L	probably benign	Het
Slit3	G	A	11: 35,591,211 (GRCm39)	G1341D	possibly damaging	Het
Tmed11	A	T	5: 108,927,750 (GRCm39)	S95T	possibly damaging	Het
Tmem186	A	G	16: 8,453,733 (GRCm39)	V176A	possibly damaging	Het
Trim12c	A	T	7: 103,997,422 (GRCm39)	S45T	possibly damaging	Het
Ube4b	C	A	4: 149,468,275 (GRCm39)	R167L	probably damaging	Het
Zfp335	A	T	2: 164,752,540 (GRCm39)		probably null	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
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
IGL03249:Ctnnd2	APN	15	30,683,382 (GRCm39)	missense	probably benign	0.45
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

2013-12-09