Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Ctnnd2'

284316

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctnnd2

Ensembl Gene

ENSMUSG00000022240

Gene Name

catenin (cadherin associated protein), delta 2

Synonyms

Catnd2, neurojugin, Nprap

Accession Numbers

NCBI RefSeq: NM_008729.2; MGI:1195966

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

30172593-31029341 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31020740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1124 (Y1124C)

Ref Sequence

ENSEMBL: ENSMUSP00000154410 (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: Y1149C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: Y1149C

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: Y1124C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227029

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 3056606
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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Ctnnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Ctnnd2	APN	15	30647141	missense	possibly damaging	0.73
IGL01612:Ctnnd2	APN	15	31005018	missense	probably damaging	1.00
IGL01923:Ctnnd2	APN	15	30480828	missense	probably damaging	0.99
IGL02186:Ctnnd2	APN	15	30480793	missense	probably damaging	0.99
IGL02226:Ctnnd2	APN	15	30847336	missense	probably benign	0.01
IGL02307:Ctnnd2	APN	15	30647211	missense	possibly damaging	0.86
IGL02407:Ctnnd2	APN	15	30966768	missense	probably damaging	1.00
IGL02474:Ctnnd2	APN	15	30669562	missense	possibly damaging	0.71
IGL02718:Ctnnd2	APN	15	31027616	missense	probably damaging	1.00
IGL03249:Ctnnd2	APN	15	30683236	missense	probably benign	0.45
IGL03328:Ctnnd2	APN	15	30921847	splice site	probably benign
carpe	UTSW	15	30905820	missense	probably damaging	1.00
diem	UTSW	15	30683347	missense	possibly damaging	0.85
P0016:Ctnnd2	UTSW	15	30966938	missense	probably benign	0.00
R0130:Ctnnd2	UTSW	15	30921913	missense	probably damaging	1.00
R0408:Ctnnd2	UTSW	15	30634677	missense	probably damaging	1.00
R0611:Ctnnd2	UTSW	15	31009084	missense	possibly damaging	0.75
R0894:Ctnnd2	UTSW	15	30332155	splice site	probably benign
R1112:Ctnnd2	UTSW	15	30921880	missense	probably damaging	1.00
R1459:Ctnnd2	UTSW	15	30847299	missense	probably damaging	1.00
R1529:Ctnnd2	UTSW	15	30887121	missense	possibly damaging	0.91
R1532:Ctnnd2	UTSW	15	30921868	missense	probably damaging	1.00
R1701:Ctnnd2	UTSW	15	30921981	missense	probably damaging	1.00
R1807:Ctnnd2	UTSW	15	30619871	missense	probably damaging	1.00
R1881:Ctnnd2	UTSW	15	31005081	splice site	probably benign
R1960:Ctnnd2	UTSW	15	30647111	missense	probably damaging	0.96
R2121:Ctnnd2	UTSW	15	30669514	missense	probably damaging	1.00
R3839:Ctnnd2	UTSW	15	31009028	splice site	probably null
R3967:Ctnnd2	UTSW	15	30646929	missense	possibly damaging	0.81
R3980:Ctnnd2	UTSW	15	30669443	missense	probably benign	0.14
R4207:Ctnnd2	UTSW	15	30972827	missense	probably damaging	0.99
R4279:Ctnnd2	UTSW	15	30905820	missense	probably damaging	1.00
R4498:Ctnnd2	UTSW	15	30619874	missense	probably damaging	1.00
R4622:Ctnnd2	UTSW	15	30887169	missense	probably benign	0.17
R4622:Ctnnd2	UTSW	15	31009113	missense	probably benign	0.00
R4860:Ctnnd2	UTSW	15	30881167	missense	probably damaging	1.00
R4860:Ctnnd2	UTSW	15	30881167	missense	probably damaging	1.00
R4979:Ctnnd2	UTSW	15	31009075	missense	probably damaging	1.00
R5086:Ctnnd2	UTSW	15	30683347	missense	possibly damaging	0.85
R5330:Ctnnd2	UTSW	15	30332115	missense	probably damaging	1.00
R5459:Ctnnd2	UTSW	15	30887188	missense	probably damaging	1.00
R5595:Ctnnd2	UTSW	15	30669543	missense	probably benign	0.07
R5809:Ctnnd2	UTSW	15	30847377	missense	probably damaging	1.00
R5987:Ctnnd2	UTSW	15	30683241	missense	probably benign
R6245:Ctnnd2	UTSW	15	30905748	missense	probably damaging	1.00
R6379:Ctnnd2	UTSW	15	30634698	missense	probably damaging	1.00
R6737:Ctnnd2	UTSW	15	30966834	nonsense	probably null
R6979:Ctnnd2	UTSW	15	30619230	missense	probably damaging	0.99
R7133:Ctnnd2	UTSW	15	30480849	missense	possibly damaging	0.47
R7179:Ctnnd2	UTSW	15	30683364	missense	possibly damaging	0.95
R7267:Ctnnd2	UTSW	15	30683355	missense	probably benign	0.13
R7275:Ctnnd2	UTSW	15	30905709	missense	possibly damaging	0.94
R7386:Ctnnd2	UTSW	15	30966768	missense	probably damaging	1.00
R7649:Ctnnd2	UTSW	15	31027484	missense	probably benign	0.11
R7814:Ctnnd2	UTSW	15	31020728	missense	probably benign	0.00
R7849:Ctnnd2	UTSW	15	31027587	missense	probably damaging	1.00
R7857:Ctnnd2	UTSW	15	30619930	missense	probably benign	0.01
R8057:Ctnnd2	UTSW	15	30847351	missense	possibly damaging	0.89
R8236:Ctnnd2	UTSW	15	30647018	missense	probably benign
R8260:Ctnnd2	UTSW	15	30634733	missense	possibly damaging	0.84
R8411:Ctnnd2	UTSW	15	30647033	missense	probably benign	0.33
R8802:Ctnnd2	UTSW	15	30966876	missense	probably damaging	1.00
R8891:Ctnnd2	UTSW	15	30619930	missense	probably benign	0.01
R8907:Ctnnd2	UTSW	15	30905727	missense	probably damaging	1.00
R8989:Ctnnd2	UTSW	15	30669514	missense	probably damaging	1.00
R9017:Ctnnd2	UTSW	15	30881170	missense	probably damaging	0.96
R9035:Ctnnd2	UTSW	15	30332016	missense	possibly damaging	0.77
R9061:Ctnnd2	UTSW	15	30806738	missense	probably damaging	1.00
R9303:Ctnnd2	UTSW	15	30966891	missense	probably damaging	0.99
R9475:Ctnnd2	UTSW	15	30881130	missense	probably damaging	1.00
Z1088:Ctnnd2	UTSW	15	30966813	missense	probably benign	0.28

Posted On

2015-04-16