Mutagenetix > Incidental Mutation

Incidental Mutation 'R7025:Ctnnd1'

545888

Institutional Source

Beutler Lab

Gene Symbol

Ctnnd1

Ensembl Gene

ENSMUSG00000034101

Gene Name

catenin (cadherin associated protein), delta 1

Synonyms

P120, p120-catenin, Ctnnd, Catns

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84600071-84650765 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84610606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 715 (I715K)

Ref Sequence

ENSEMBL: ENSMUSP00000107323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036811] [ENSMUST00000066177] [ENSMUST00000067232] [ENSMUST00000099941] [ENSMUST00000111670] [ENSMUST00000111675] [ENSMUST00000111676] [ENSMUST00000111677] [ENSMUST00000111678] [ENSMUST00000111684] [ENSMUST00000111685] [ENSMUST00000111686] [ENSMUST00000111687] [ENSMUST00000111688] [ENSMUST00000111689] [ENSMUST00000111690] [ENSMUST00000111691] [ENSMUST00000111692] [ENSMUST00000111693] [ENSMUST00000111694] [ENSMUST00000111695] [ENSMUST00000111696] [ENSMUST00000111697] [ENSMUST00000111698] [ENSMUST00000189772]

AlphaFold

P30999

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036811
AA Change: I715K

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042543
Gene: ENSMUSG00000034101
AA Change: I715K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066177
AA Change: I709K

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065252
Gene: ENSMUSG00000034101
AA Change: I709K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	1.2e-8	SMART
ARM	440	481	1.3e-10	SMART
ARM	482	539	3e-1	SMART
ARM	541	588	1.8e-2	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	5.7e-7	SMART
ARM	783	825	2.1e-1	SMART
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067232
AA Change: I715K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064518
Gene: ENSMUSG00000034101
AA Change: I715K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099941
AA Change: I614K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097524
Gene: ENSMUSG00000034101
AA Change: I614K

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
Blast:ARM	550	592	8e-20	BLAST
ARM	598	638	1.23e-4	SMART
ARM	688	730	4.41e1	SMART
low complexity region	756	767	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111670
AA Change: I608K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107299
Gene: ENSMUSG00000034101
AA Change: I608K

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
Blast:ARM	544	586	9e-20	BLAST
ARM	592	632	1.23e-4	SMART
ARM	682	724	4.41e1	SMART
low complexity region	750	761	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111675
AA Change: I386K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107304
Gene: ENSMUSG00000034101
AA Change: I386K

Domain	Start	End	E-Value	Type
ARM	74	114	2.53e-6	SMART
ARM	117	158	2.8e-8	SMART
ARM	159	216	6.3e1	SMART
ARM	218	265	3.74e0	SMART
Blast:ARM	322	364	8e-20	BLAST
ARM	370	410	1.23e-4	SMART
ARM	460	502	4.41e1	SMART
low complexity region	528	539	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111676
AA Change: I608K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107305
Gene: ENSMUSG00000034101
AA Change: I608K

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
Blast:ARM	544	586	1e-19	BLAST
ARM	592	632	1.23e-4	SMART
ARM	682	724	4.41e1	SMART
low complexity region	750	761	N/A	INTRINSIC
low complexity region	836	848	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111677
AA Change: I608K

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107306
Gene: ENSMUSG00000034101
AA Change: I608K

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
ARM	592	632	1.23e-4	SMART
ARM	682	724	4.41e1	SMART
low complexity region	750	761	N/A	INTRINSIC
low complexity region	815	827	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111678
AA Change: I614K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107307
Gene: ENSMUSG00000034101
AA Change: I614K

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
Blast:ARM	550	592	9e-20	BLAST
ARM	598	638	1.23e-4	SMART
ARM	688	730	4.41e1	SMART
low complexity region	756	767	N/A	INTRINSIC
low complexity region	842	854	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111684
AA Change: I661K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107313
Gene: ENSMUSG00000034101
AA Change: I661K

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	597	639	6e-20	BLAST
ARM	645	685	1.23e-4	SMART
ARM	735	777	4.41e1	SMART
low complexity region	803	814	N/A	INTRINSIC
low complexity region	889	901	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111685
AA Change: I661K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107314
Gene: ENSMUSG00000034101
AA Change: I661K

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	597	639	6e-20	BLAST
ARM	645	685	1.23e-4	SMART
ARM	735	777	4.41e1	SMART
low complexity region	803	814	N/A	INTRINSIC
low complexity region	868	880	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111686
AA Change: I655K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107315
Gene: ENSMUSG00000034101
AA Change: I655K

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	591	633	7e-20	BLAST
ARM	639	679	1.23e-4	SMART
ARM	729	771	4.41e1	SMART
low complexity region	797	808	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111687
AA Change: I655K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107316
Gene: ENSMUSG00000034101
AA Change: I655K

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	591	633	8e-20	BLAST
ARM	639	679	1.23e-4	SMART
ARM	729	771	4.41e1	SMART
low complexity region	797	808	N/A	INTRINSIC
low complexity region	883	895	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111688
AA Change: I655K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107317
Gene: ENSMUSG00000034101
AA Change: I655K

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	591	633	7e-20	BLAST
ARM	639	679	1.23e-4	SMART
ARM	729	771	4.41e1	SMART
low complexity region	797	808	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111689
AA Change: I661K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107318
Gene: ENSMUSG00000034101
AA Change: I661K

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	597	639	6e-20	BLAST
ARM	645	685	1.23e-4	SMART
ARM	735	777	4.41e1	SMART
low complexity region	803	814	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111690
AA Change: I655K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107319
Gene: ENSMUSG00000034101
AA Change: I655K

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	591	633	7e-20	BLAST
ARM	639	679	1.23e-4	SMART
ARM	729	771	4.41e1	SMART
low complexity region	797	808	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111691
AA Change: I715K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107320
Gene: ENSMUSG00000034101
AA Change: I715K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111692
AA Change: I709K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107321
Gene: ENSMUSG00000034101
AA Change: I709K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	1.23e-4	SMART
ARM	783	825	4.41e1	SMART
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111693
AA Change: I709K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107322
Gene: ENSMUSG00000034101
AA Change: I709K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	1.23e-4	SMART
ARM	783	825	4.41e1	SMART
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111694
AA Change: I715K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107323
Gene: ENSMUSG00000034101
AA Change: I715K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC
low complexity region	943	955	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111695
AA Change: I709K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107324
Gene: ENSMUSG00000034101
AA Change: I709K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	1.23e-4	SMART
ARM	783	825	4.41e1	SMART
low complexity region	851	862	N/A	INTRINSIC
low complexity region	937	949	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111696
AA Change: I709K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107325
Gene: ENSMUSG00000034101
AA Change: I709K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	1.23e-4	SMART
ARM	783	825	4.41e1	SMART
low complexity region	851	862	N/A	INTRINSIC
low complexity region	916	928	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111697
AA Change: I715K

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107326
Gene: ENSMUSG00000034101
AA Change: I715K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111698
AA Change: I645K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107327
Gene: ENSMUSG00000034101
AA Change: I645K

Domain	Start	End	E-Value	Type
low complexity region	62	89	N/A	INTRINSIC
ARM	333	373	2.53e-6	SMART
ARM	376	417	2.8e-8	SMART
ARM	418	475	6.3e1	SMART
ARM	477	524	3.74e0	SMART
Blast:ARM	581	623	8e-20	BLAST
ARM	629	669	1.23e-4	SMART
ARM	719	761	4.41e1	SMART
low complexity region	787	798	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189772
AA Change: I715K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645
AA Change: I715K

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions of this gene die shortly after birth and have morphological abnormalities of the salivary glands and lacrimal gland. [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
Acbd4	T	A	11: 103,104,538	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550	R593*	probably null	Het
Bicral	T	C	17: 46,801,668	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814	T108K	probably damaging	Het
Cyp17a1	T	A	19: 46,670,980	D137V	probably damaging	Het
Dbr1	A	G	9: 99,575,983	T19A	probably damaging	Het
Dnah3	C	T	7: 120,030,010	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871	I207T	possibly damaging	Het
Fam198b	T	C	3: 79,886,548	Y108H	probably damaging	Het
Fam219a	T	C	4: 41,521,925	S41G	probably benign	Het
Gm15448	T	A	7: 3,821,262	K629*	probably null	Het
Ifi203	T	C	1: 173,928,385		probably benign	Het
Inpp4a	T	C	1: 37,369,423	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197	Q182L	probably benign	Het
Krt90	T	C	15: 101,557,175	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,483,028	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787	Y813S	unknown	Het
Myh7	C	A	14: 54,974,644	E1548*	probably null	Het
Myh8	A	G	11: 67,297,539	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508		probably benign	Het
Neb	T	C	2: 52,296,273	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848	M65I	possibly damaging	Het
Nop56	C	T	2: 130,277,881	R81*	probably null	Het
Npnt	C	T	3: 132,908,396	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262	K148E	probably damaging	Het
Olfr1243	T	A	2: 89,527,604	I269F	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,675	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760	D959E	probably benign	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187		probably benign	Het
Prpf40b	C	T	15: 99,306,400	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403	V378I	possibly damaging	Het
Trpm1	A	T	7: 64,226,714		probably null	Het
Ubqln3	A	G	7: 104,141,275	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083	I393F	possibly damaging	Het

Other mutations in Ctnnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Ctnnd1	APN	2	84609625	missense	probably damaging	0.99
IGL00846:Ctnnd1	APN	2	84622010	critical splice donor site	probably null
IGL00861:Ctnnd1	APN	2	84603752	missense	probably damaging	0.97
IGL01394:Ctnnd1	APN	2	84605256	splice site	probably benign
IGL02035:Ctnnd1	APN	2	84620081	missense	probably damaging	1.00
IGL02536:Ctnnd1	APN	2	84605196	missense	probably benign	0.00
IGL02859:Ctnnd1	APN	2	84619909	splice site	probably benign
IGL03270:Ctnnd1	APN	2	84609727	splice site	probably null
IGL02802:Ctnnd1	UTSW	2	84624462	start codon destroyed	probably null	0.99
R0449:Ctnnd1	UTSW	2	84603262	missense	possibly damaging	0.53
R0487:Ctnnd1	UTSW	2	84609067	missense	probably damaging	1.00
R0652:Ctnnd1	UTSW	2	84602896	missense	probably benign	0.40
R1503:Ctnnd1	UTSW	2	84605179	splice site	probably null
R1701:Ctnnd1	UTSW	2	84608991	missense	probably damaging	1.00
R1796:Ctnnd1	UTSW	2	84615209	missense	probably damaging	1.00
R2001:Ctnnd1	UTSW	2	84620360	missense	probably benign	0.00
R2002:Ctnnd1	UTSW	2	84620360	missense	probably benign	0.00
R2185:Ctnnd1	UTSW	2	84612548	missense	probably damaging	1.00
R2192:Ctnnd1	UTSW	2	84609563	missense	probably damaging	1.00
R2203:Ctnnd1	UTSW	2	84616680	missense	probably damaging	1.00
R2389:Ctnnd1	UTSW	2	84624271	missense	probably null	0.94
R2872:Ctnnd1	UTSW	2	84620888	missense	possibly damaging	0.88
R2872:Ctnnd1	UTSW	2	84620888	missense	possibly damaging	0.88
R3846:Ctnnd1	UTSW	2	84616927	missense	probably benign	0.04
R4019:Ctnnd1	UTSW	2	84619958	missense	probably damaging	1.00
R4194:Ctnnd1	UTSW	2	84603701	missense	possibly damaging	0.93
R4796:Ctnnd1	UTSW	2	84619926	missense	probably damaging	1.00
R4847:Ctnnd1	UTSW	2	84622052	nonsense	probably null
R4964:Ctnnd1	UTSW	2	84622073	missense	possibly damaging	0.85
R4966:Ctnnd1	UTSW	2	84622073	missense	possibly damaging	0.85
R5223:Ctnnd1	UTSW	2	84616789	missense	probably damaging	1.00
R5336:Ctnnd1	UTSW	2	84616789	missense	probably damaging	1.00
R5428:Ctnnd1	UTSW	2	84616789	missense	probably damaging	1.00
R5429:Ctnnd1	UTSW	2	84616789	missense	probably damaging	1.00
R5974:Ctnnd1	UTSW	2	84620915	nonsense	probably null
R6018:Ctnnd1	UTSW	2	84650468	intron	probably benign
R6285:Ctnnd1	UTSW	2	84613887	critical splice donor site	probably null
R6562:Ctnnd1	UTSW	2	84624308	missense	probably benign
R6661:Ctnnd1	UTSW	2	84609642	missense	probably damaging	1.00
R6694:Ctnnd1	UTSW	2	84624505	start gained	probably benign
R6769:Ctnnd1	UTSW	2	84619925	missense	probably damaging	1.00
R6769:Ctnnd1	UTSW	2	84620110	missense	probably damaging	1.00
R6771:Ctnnd1	UTSW	2	84619925	missense	probably damaging	1.00
R6771:Ctnnd1	UTSW	2	84620110	missense	probably damaging	1.00
R6916:Ctnnd1	UTSW	2	84609646	missense	probably benign	0.02
R7208:Ctnnd1	UTSW	2	84622046	missense	possibly damaging	0.48
R7466:Ctnnd1	UTSW	2	84610785	missense	probably benign	0.30
R7583:Ctnnd1	UTSW	2	84612061	missense	probably damaging	0.99
R8087:Ctnnd1	UTSW	2	84610876	missense	possibly damaging	0.65
R8458:Ctnnd1	UTSW	2	84613943	missense	probably damaging	1.00
R8723:Ctnnd1	UTSW	2	84620040	missense	probably benign	0.03
R9087:Ctnnd1	UTSW	2	84609578	missense	probably damaging	1.00
R9318:Ctnnd1	UTSW	2	84608338	missense	probably benign	0.01
R9651:Ctnnd1	UTSW	2	84609555	missense	possibly damaging	0.89
R9736:Ctnnd1	UTSW	2	84612086	missense	probably benign	0.19
X0062:Ctnnd1	UTSW	2	84615214	missense	probably damaging	1.00
Z1177:Ctnnd1	UTSW	2	84615172	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCTCTTCAGTGATGTCAACAAATG -3'
(R):5'- AGACGCCTGCCATCTTAGAAG -3'

Sequencing Primer
(F):5'- GAGTAAACATTTAGTGGAATCCAGAC -3'
(R):5'- AGCTATCCAGAACTTGTGTGC -3'

Posted On

2019-05-13