Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Cdh26'

36145

Institutional Source

Beutler Lab

Gene Symbol

Cdh26

Ensembl Gene

ENSMUSG00000039155

Gene Name

cadherin-like 26

Synonyms

LOC381409

MMRRC Submission

038483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0245 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

178072324-178129159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 178123425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 675 (R675C)

Ref Sequence

ENSEMBL: ENSMUSP00000048829 (fasta)

Gene Model

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

AlphaFold

P59862

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042092
AA Change: R675C

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048829
Gene: ENSMUSG00000039155
AA Change: R675C

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

possibly damaging
Transcript: ENSMUST00000108912
AA Change: R656C

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104540
Gene: ENSMUSG00000039155
AA Change: R656C

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Asic3	C	A	5: 24,618,836 (GRCm39)	R43S	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,519,517 (GRCm39)	D56V	probably benign	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fah	A	C	7: 84,244,706 (GRCm39)	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fdps	A	G	3: 89,001,078 (GRCm39)	S334P	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,016,094 (GRCm39)	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or4k52	A	G	2: 111,610,680 (GRCm39)	N5S	probably damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	probably damaging	Het

Other mutations in Cdh26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Cdh26	APN	2	178,123,417 (GRCm39)	missense	possibly damaging	0.86
IGL01341:Cdh26	APN	2	178,099,240 (GRCm39)	missense	probably damaging	0.99
IGL02636:Cdh26	APN	2	178,091,755 (GRCm39)	missense	probably damaging	1.00
IGL03144:Cdh26	APN	2	178,109,967 (GRCm39)	missense	probably damaging	0.99
R0244:Cdh26	UTSW	2	178,123,425 (GRCm39)	missense	possibly damaging	0.88
R0466:Cdh26	UTSW	2	178,123,425 (GRCm39)	missense	possibly damaging	0.88
R0467:Cdh26	UTSW	2	178,123,425 (GRCm39)	missense	possibly damaging	0.88
R0514:Cdh26	UTSW	2	178,108,621 (GRCm39)	critical splice donor site	probably null
R0610:Cdh26	UTSW	2	178,091,691 (GRCm39)	missense	probably damaging	1.00
R0733:Cdh26	UTSW	2	178,128,724 (GRCm39)	missense	probably damaging	1.00
R1592:Cdh26	UTSW	2	178,091,684 (GRCm39)	missense	probably damaging	1.00
R2483:Cdh26	UTSW	2	178,108,382 (GRCm39)	missense	probably damaging	1.00
R3756:Cdh26	UTSW	2	178,111,794 (GRCm39)	splice site	probably benign
R4617:Cdh26	UTSW	2	178,102,435 (GRCm39)	intron	probably benign
R4914:Cdh26	UTSW	2	178,091,614 (GRCm39)	missense	probably benign	0.02
R4915:Cdh26	UTSW	2	178,091,614 (GRCm39)	missense	probably benign	0.02
R4917:Cdh26	UTSW	2	178,091,614 (GRCm39)	missense	probably benign	0.02
R4918:Cdh26	UTSW	2	178,091,614 (GRCm39)	missense	probably benign	0.02
R5086:Cdh26	UTSW	2	178,083,210 (GRCm39)	nonsense	probably null
R5573:Cdh26	UTSW	2	178,108,482 (GRCm39)	missense	probably damaging	0.96
R5809:Cdh26	UTSW	2	178,101,919 (GRCm39)	nonsense	probably null
R5941:Cdh26	UTSW	2	178,123,443 (GRCm39)	nonsense	probably null
R6284:Cdh26	UTSW	2	178,091,677 (GRCm39)	missense	probably damaging	1.00
R6341:Cdh26	UTSW	2	178,113,366 (GRCm39)	splice site	probably null
R6496:Cdh26	UTSW	2	178,091,654 (GRCm39)	missense	probably damaging	1.00
R7132:Cdh26	UTSW	2	178,128,555 (GRCm39)	missense	possibly damaging	0.56
R7664:Cdh26	UTSW	2	178,111,835 (GRCm39)	missense	probably benign	0.02
R7694:Cdh26	UTSW	2	178,101,896 (GRCm39)	missense	probably damaging	0.96
R7814:Cdh26	UTSW	2	178,111,828 (GRCm39)	missense	probably damaging	0.98
R8089:Cdh26	UTSW	2	178,099,370 (GRCm39)	critical splice donor site	probably null
R8103:Cdh26	UTSW	2	178,110,006 (GRCm39)	missense	probably damaging	1.00
R8412:Cdh26	UTSW	2	178,104,517 (GRCm39)	missense	probably damaging	0.98
R8413:Cdh26	UTSW	2	178,110,022 (GRCm39)	missense	probably damaging	0.99
R9025:Cdh26	UTSW	2	178,104,409 (GRCm39)	missense	probably benign	0.01
R9621:Cdh26	UTSW	2	178,111,983 (GRCm39)	missense	probably damaging	1.00
R9628:Cdh26	UTSW	2	178,083,213 (GRCm39)	missense
RF002:Cdh26	UTSW	2	178,108,424 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTTGCTGCTGCTGGATAGACTC -3'
(R):5'- GATCTGTGGTGGAAGCCATCAGAC -3'

Sequencing Primer
(F):5'- TGGATAGACTCCAGCCTCC -3'
(R):5'- tggaagccatcagactataacatc -3'

Posted On

2013-05-09