Mutagenetix > Incidental Mutations

Incidental Mutation 'R2483:Cdh26'

250633

Institutional Source

Beutler Lab

Gene Symbol

Cdh26

Ensembl Gene

ENSMUSG00000039155

Gene Name

cadherin-like 26

Synonyms

LOC381409

MMRRC Submission

040407-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

178430531-178487366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 178466589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 327 (S327C)

Ref Sequence

ENSEMBL: ENSMUSP00000104540 (fasta)

Gene Model

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

AlphaFold

P59862

Predicted Effect

probably damaging
Transcript: ENSMUST00000042092
AA Change: S327C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048829
Gene: ENSMUSG00000039155
AA Change: S327C

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 damaging
Transcript: ENSMUST00000108912
AA Change: S327C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104540
Gene: ENSMUSG00000039155
AA Change: S327C

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

noncoding transcript
Transcript: ENSMUST00000176869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230050P20Rik	A	T	9: 20,873,177	I186F	possibly damaging	Het
Adcy1	A	G	11: 7,130,348	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262	E104G	possibly damaging	Het
Ano6	A	T	15: 95,965,974	T792S	probably benign	Het
Atm	A	T	9: 53,510,266	V715D	probably damaging	Het
Avl9	A	G	6: 56,736,843	D362G	probably benign	Het
Bin1	T	A	18: 32,414,227	S152R	probably damaging	Het
Bscl2	T	A	19: 8,841,150	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086	T668A	probably benign	Het
Btrc	A	G	19: 45,516,058	D397G	probably damaging	Het
C530008M17Rik	A	T	5: 76,856,409	I206F	probably damaging	Het
Cables2	A	T	2: 180,260,429	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,512,022	L228P	probably damaging	Het
Cd109	A	T	9: 78,667,357	D541V	probably damaging	Het
Cep78	T	C	19: 15,960,980	K535E	probably damaging	Het
Ces1a	A	G	8: 93,027,341	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,864,148	R2524I	probably damaging	Het
Dctn1	G	A	6: 83,194,187	R661H	probably damaging	Het
Ddias	T	C	7: 92,859,592	T372A	probably benign	Het
Dffb	T	C	4: 153,965,519	T296A	probably damaging	Het
Dock8	A	G	19: 25,079,877	Q216R	probably benign	Het
Emx1	T	C	6: 85,188,255	S105P	probably benign	Het
Ep400	T	C	5: 110,719,236	Y1014C	unknown	Het
Fam193a	A	T	5: 34,465,758	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,109,571	Q207R	probably benign	Het
Gm5460	G	A	14: 34,045,818	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,855,938	I249T	probably benign	Het
Htr1d	T	C	4: 136,443,504	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738	S364C	probably damaging	Het
Igfn1	T	C	1: 135,969,537	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,724,960	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,114,471	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,848,966	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,186,698	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,480,559	C94G	probably damaging	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Midn	A	G	10: 80,150,310	D78G	probably benign	Het
Myh1	A	T	11: 67,211,226	M811L	probably benign	Het
Myh7	T	C	14: 54,973,381	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,864,739	T979A	probably benign	Het
Myo18b	A	T	5: 112,858,408	C879S	probably damaging	Het
Myom1	A	G	17: 71,077,812	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,844,399	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,395,179	C74R	possibly damaging	Het
Obscn	A	G	11: 59,080,146	F2514L	probably damaging	Het
Olfr1241	G	A	2: 89,483,127	Q3*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499	S200T	probably benign	Het
Pcdha5	G	T	18: 36,961,489	M350I	probably benign	Het
Pcdha5	G	A	18: 36,961,781	V448M	probably damaging	Het
Pex12	C	T	11: 83,297,629	R180H	possibly damaging	Het
Pkd1l1	A	T	11: 8,962,701	V168E	probably damaging	Het
Prokr2	T	A	2: 132,381,175	D149V	probably damaging	Het
Rnf123	A	G	9: 108,063,521	V707A	probably benign	Het
Ryr2	T	C	13: 11,759,703	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,515,291	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,332,278		probably null	Het
Slc17a5	A	T	9: 78,538,274	V433D	probably damaging	Het
Snapc1	A	G	12: 73,964,643	T28A	probably benign	Het
Soat1	T	C	1: 156,431,099	Y528C	probably damaging	Het
Spem1	G	A	11: 69,821,518	R107C	possibly damaging	Het
Srcap	T	C	7: 127,542,147	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,374,595	N691K	probably damaging	Het
Syne2	A	T	12: 76,095,537	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,868,470	M155L	probably benign	Het
Tenm3	G	A	8: 48,240,270	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,103,072	V1048D	probably damaging	Het
Tmem55b	C	G	14: 50,930,292	V59L	probably damaging	Het
Ttc37	A	G	13: 76,182,867	E1472G	probably damaging	Het
Vav3	T	C	3: 109,341,166	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,435,452	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,816,038	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907		probably null	Het
Vps37c	T	A	19: 10,706,205		probably null	Het
Wwp2	A	G	8: 107,548,535	D388G	probably damaging	Het
Xirp2	A	T	2: 67,524,992	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,203,357		probably benign	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
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
R7132:Cdh26	UTSW	2	178486762	missense	possibly damaging	0.56
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
R9025:Cdh26	UTSW	2	178462616	missense	probably benign	0.01
RF002:Cdh26	UTSW	2	178466631	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCCATAAGTGATTTGAAAGG -3'
(R):5'- CACCTTATCTGGCTGTCAGC -3'

Sequencing Primer
(F):5'- CCCATAAGTGATTTGAAAGGGATCTG -3'
(R):5'- GTCTGTAGCATTGAAGTATCCCAGC -3'

Posted On

2014-12-04