Mutagenetix > Incidental Mutations

Incidental Mutation 'R7132:Cdh26'

552732

Institutional Source

Beutler Lab

Gene Symbol

Cdh26

Ensembl Gene

ENSMUSG00000039155

Gene Name

cadherin-like 26

Synonyms

LOC381409

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

178430531-178487366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 178486762 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 702 (D702E)

Ref Sequence

ENSEMBL: ENSMUSP00000048829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042092] [ENSMUST00000108912]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042092
AA Change: D702E

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048829
Gene: ENSMUSG00000039155
AA Change: D702E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CA	36	138	5.06e-2	SMART
CA	162	248	1.23e-19	SMART
CA	271	370	1.01e-6	SMART
CA	393	476	2.86e-20	SMART
transmembrane domain	592	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108912
AA Change: D683E

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104540
Gene: ENSMUSG00000039155
AA Change: D683E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CA	36	138	5.06e-2	SMART
CA	162	248	1.23e-19	SMART
CA	271	370	1.01e-6	SMART
CA	393	476	2.86e-20	SMART
transmembrane domain	592	614	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 cadherin protein family. Cadherins are a family of calcium-dependent adhesion molecules that mediate cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization, migration and differentiation. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This protein is expressed in gastrointestinal epithelial cells and may be upregulated during allergic inflammation. This protein interacts with alpha integrins and may also be involved in leukocyte migration and adhesion. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,989,914	A1471V		Het
Ankrd12	C	A	17: 65,983,247	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,619,565	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,569,384	Y277*	probably null	Het
App	T	C	16: 85,056,482	D236G	unknown	Het
Arid2	A	T	15: 96,350,013	K102I	possibly damaging	Het
Asl	A	G	5: 130,014,702	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cbx2	A	G	11: 119,023,121	S5G	probably benign	Het
Ccdc183	A	G	2: 25,616,530		probably null	Het
Cd72	T	C	4: 43,452,444	Q183R	possibly damaging	Het
Cfap61	A	T	2: 146,109,950	N784I	probably damaging	Het
Cgrrf1	G	A	14: 46,853,864	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cobll1	T	G	2: 65,133,768	K170Q	probably damaging	Het
Copg2	A	T	6: 30,815,996	V468D	probably benign	Het
Cracr2b	C	T	7: 141,463,738	A84V	probably benign	Het
Cyp2f2	A	T	7: 27,132,568	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391	F75S	probably benign	Het
Eml3	G	T	19: 8,941,028	A829S	probably benign	Het
Entpd3	A	G	9: 120,561,020	T402A	probably benign	Het
Fer1l4	A	T	2: 156,045,626	V550E	probably damaging	Het
Fgb	G	A	3: 83,046,746	R62*	probably null	Het
Fubp1	T	A	3: 152,232,024		probably null	Het
Gdf3	A	C	6: 122,606,324	D361E	probably damaging	Het
Gm6685	A	T	11: 28,339,330	I162N	probably damaging	Het
Hmx2	A	G	7: 131,555,916	Y253C	probably damaging	Het
Ints2	G	T	11: 86,217,754	N922K	probably benign	Het
Ipo7	C	T	7: 110,054,047	L984F	probably benign	Het
Itgae	A	T	11: 73,111,358	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,256,227	V697A	unknown	Het
Kctd18	G	A	1: 57,967,578	R38*	probably null	Het
Kdm5b	A	G	1: 134,599,106	D322G	probably damaging	Het
Ldb3	A	G	14: 34,577,035	Y211H	probably benign	Het
Limch1	T	C	5: 66,953,685	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,879,693	L68*	probably null	Het
Lrwd1	A	G	5: 136,123,275	V616A	possibly damaging	Het
Nars	A	G	18: 64,507,770		probably null	Het
Nradd	T	C	9: 110,622,261	D13G	probably benign	Het
Oacyl	A	T	18: 65,698,409	N39I	probably damaging	Het
Olfr1499	T	A	19: 13,815,422	Q56L	probably benign	Het
Onecut2	A	T	18: 64,340,912	H178L	possibly damaging	Het
Pcdhga4	A	C	18: 37,687,377	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm3	T	A	11: 72,051,276	I902F	possibly damaging	Het
Plod3	T	C	5: 136,995,117	L180S		Het
Prrc2c	A	T	1: 162,681,281	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,322,066	E58G	probably benign	Het
Rev1	G	T	1: 38,071,449	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,715,136	L696*	probably null	Het
Serpinb3c	A	G	1: 107,276,951	S22P	probably damaging	Het
St18	A	T	1: 6,859,127	H81L		Het
Stard9	A	T	2: 120,679,378	K266*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,344,952	T381I	probably benign	Het
Tecpr2	T	A	12: 110,915,372	V125D	probably damaging	Het
Tmc2	T	C	2: 130,232,409	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,784,225	V143I	probably benign	Het
Trap1	A	G	16: 4,055,829	Y288H	probably benign	Het
Trim39	T	C	17: 36,260,655	T404A	probably benign	Het
Ttn	T	A	2: 76,745,699	K24950I	probably damaging	Het
Ttn	G	T	2: 76,944,352	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,949,468	I471N	probably damaging	Het
Wbp11	T	C	6: 136,821,542	T170A	probably benign	Het
Wnk4	A	G	11: 101,261,200	I177V	probably benign	Het
Zfp455	C	A	13: 67,199,166	P51T	probably damaging	Het
Zfp946	T	C	17: 22,454,663	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,241,615	Y514*	probably null	Het
Zzef1	T	C	11: 72,917,871		probably null	Het

Other mutations in Cdh26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Cdh26	APN	2	178481624	missense	possibly damaging	0.86
IGL01341:Cdh26	APN	2	178457447	missense	probably damaging	0.99
IGL02636:Cdh26	APN	2	178449962	missense	probably damaging	1.00
IGL03144:Cdh26	APN	2	178468174	missense	probably damaging	0.99
R0244:Cdh26	UTSW	2	178481632	missense	possibly damaging	0.88
R0245:Cdh26	UTSW	2	178481632	missense	possibly damaging	0.88
R0466:Cdh26	UTSW	2	178481632	missense	possibly damaging	0.88
R0467:Cdh26	UTSW	2	178481632	missense	possibly damaging	0.88
R0514:Cdh26	UTSW	2	178466828	critical splice donor site	probably null
R0610:Cdh26	UTSW	2	178449898	missense	probably damaging	1.00
R0733:Cdh26	UTSW	2	178486931	missense	probably damaging	1.00
R1592:Cdh26	UTSW	2	178449891	missense	probably damaging	1.00
R2483:Cdh26	UTSW	2	178466589	missense	probably damaging	1.00
R3756:Cdh26	UTSW	2	178470001	splice site	probably benign
R4617:Cdh26	UTSW	2	178460642	intron	probably benign
R4914:Cdh26	UTSW	2	178449821	missense	probably benign	0.02
R4915:Cdh26	UTSW	2	178449821	missense	probably benign	0.02
R4917:Cdh26	UTSW	2	178449821	missense	probably benign	0.02
R4918:Cdh26	UTSW	2	178449821	missense	probably benign	0.02
R5086:Cdh26	UTSW	2	178441417	nonsense	probably null
R5573:Cdh26	UTSW	2	178466689	missense	probably damaging	0.96
R5809:Cdh26	UTSW	2	178460126	nonsense	probably null
R5941:Cdh26	UTSW	2	178481650	nonsense	probably null
R6284:Cdh26	UTSW	2	178449884	missense	probably damaging	1.00
R6341:Cdh26	UTSW	2	178471573	splice site	probably null
R6496:Cdh26	UTSW	2	178449861	missense	probably damaging	1.00
R7664:Cdh26	UTSW	2	178470042	missense	probably benign	0.02
R7694:Cdh26	UTSW	2	178460103	missense	probably damaging	0.96
R7814:Cdh26	UTSW	2	178470035	missense	probably damaging	0.98
R8089:Cdh26	UTSW	2	178457577	critical splice donor site	probably null
R8103:Cdh26	UTSW	2	178468213	missense	probably damaging	1.00
R8412:Cdh26	UTSW	2	178462724	missense	probably damaging	0.98
R8413:Cdh26	UTSW	2	178468229	missense	probably damaging	0.99
RF002:Cdh26	UTSW	2	178466631	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACATCCTGCTTCAGCTTG -3'
(R):5'- GGTCCATGAATAGTGATCAATTTCCC -3'

Sequencing Primer
(F):5'- GAGACTTTCCAGCCAAGA -3'
(R):5'- ATGCCCCTCATACACCTTTATGAAGG -3'

Posted On

2019-05-15