Mutagenetix > Incidental Mutation

Incidental Mutation 'R9628:Cdh26'

725258

Institutional Source

Beutler Lab

Gene Symbol

Cdh26

Ensembl Gene

ENSMUSG00000039155

Gene Name

cadherin-like 26

Synonyms

LOC381409

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9628 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

178072324-178129159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 178083213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 27 (S27P)

Ref Sequence

ENSEMBL: ENSMUSP00000048829 (fasta)

Gene Model

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

AlphaFold

P59862

Predicted Effect

SMART Domains

Protein: ENSMUSP00000048829
Gene: ENSMUSG00000039155
AA Change: S27P

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: S27P

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104540
Gene: ENSMUSG00000039155
AA Change: S27P

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,193 (GRCm39)	N635D	probably damaging	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Arhgef38	T	C	3: 132,838,025 (GRCm39)	Y635C	unknown	Het
Avl9	T	A	6: 56,713,460 (GRCm39)	Y239*	probably null	Het
C2cd3	T	A	7: 100,097,961 (GRCm39)	H1449Q		Het
Ccdc141	G	A	2: 76,844,838 (GRCm39)	P1410S	probably damaging	Het
Ccz1	G	A	5: 143,925,043 (GRCm39)	T471M	possibly damaging	Het
Cdk11b	T	G	4: 155,734,154 (GRCm39)	D756E	unknown	Het
Celsr3	C	A	9: 108,703,559 (GRCm39)	S14*	probably null	Het
Cntrob	T	C	11: 69,213,782 (GRCm39)	T3A	possibly damaging	Het
Cracd	A	G	5: 77,004,923 (GRCm39)	E428G	unknown	Het
Csde1	T	C	3: 102,962,825 (GRCm39)	V738A	probably benign	Het
Dazap1	T	C	10: 80,118,999 (GRCm39)	Y230H	unknown	Het
Dip2a	A	G	10: 76,142,993 (GRCm39)	I264T	probably damaging	Het
Dleu7	C	A	14: 62,530,144 (GRCm39)	A86S	possibly damaging	Het
Dnmbp	T	A	19: 43,858,646 (GRCm39)	D132V	probably damaging	Het
Dppa4	T	C	16: 48,111,672 (GRCm39)	V219A	probably benign	Het
Dsg1c	T	A	18: 20,397,373 (GRCm39)	I27N	probably damaging	Het
Egr4	T	C	6: 85,489,292 (GRCm39)	Y256C	probably benign	Het
Ess2	A	T	16: 17,720,757 (GRCm39)	M363K	probably damaging	Het
Fam124a	A	G	14: 62,825,010 (GRCm39)	E168G	probably damaging	Het
Gata4	T	C	14: 63,478,545 (GRCm39)	Y18C	probably damaging	Het
Gckr	C	A	5: 31,457,934 (GRCm39)	A147D	probably damaging	Het
H1f8	G	A	6: 115,924,700 (GRCm39)	V69I	probably damaging	Het
Hook1	T	C	4: 95,901,560 (GRCm39)	L506P	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Larp1b	T	C	3: 40,916,103 (GRCm39)		probably null	Het
Ldhb	T	C	6: 142,439,862 (GRCm39)	E226G	probably damaging	Het
Lpar5	T	G	6: 125,058,948 (GRCm39)	V223G	probably damaging	Het
Lrrc37a	A	G	11: 103,394,330 (GRCm39)	V365A	probably benign	Het
Lrrtm3	T	C	10: 63,923,776 (GRCm39)	K464E	probably damaging	Het
Ly75	A	G	2: 60,158,285 (GRCm39)	I1000T	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,568,966 (GRCm39)	L35P	probably damaging	Het
Nptx2	G	A	5: 144,490,261 (GRCm39)	R230H	probably benign	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Or1e25	G	A	11: 73,493,864 (GRCm39)	V153I	probably benign	Het
Or4c111	A	G	2: 88,843,670 (GRCm39)	V246A	probably damaging	Het
Or8b1	T	G	9: 38,399,871 (GRCm39)	L182R	probably benign	Het
Padi6	G	A	4: 140,464,626 (GRCm39)	T201I	probably damaging	Het
Plscr4	C	T	9: 92,354,985 (GRCm39)	T13I	possibly damaging	Het
Ppp6r1	G	A	7: 4,636,112 (GRCm39)	A782V	probably benign	Het
Rab18	G	A	18: 6,788,647 (GRCm39)	V205M	probably benign	Het
Rhobtb1	T	C	10: 69,106,653 (GRCm39)	V468A	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,317,398 (GRCm39)	I722N	probably benign	Het
Slc17a4	A	G	13: 24,089,512 (GRCm39)	V135A	possibly damaging	Het
Slc30a5	A	G	13: 100,961,422 (GRCm39)		probably null	Het
Slc5a6	T	C	5: 31,197,746 (GRCm39)	Y321C	probably benign	Het
Spag7	A	T	11: 70,555,186 (GRCm39)	D178E	probably benign	Het
Swsap1	T	G	9: 21,867,172 (GRCm39)	S39A		Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tor1aip1	C	A	1: 155,893,320 (GRCm39)	G276*	probably null	Het
Usp47	G	A	7: 111,705,999 (GRCm39)	M1220I	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r35	A	G	7: 7,815,702 (GRCm39)	V489A	probably benign	Het
Wif1	T	C	10: 120,932,549 (GRCm39)	V309A	possibly damaging	Het
Xpo4	T	C	14: 57,842,630 (GRCm39)	N434D	probably damaging	Het
Zfp462	A	T	4: 55,009,423 (GRCm39)	H463L	probably benign	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
R0245: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
RF002:Cdh26	UTSW	2	178,108,424 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTTTCAATGCCCAGGCTC -3'
(R):5'- ATGATCCTGGCTTCTTTCCCTAAAG -3'

Sequencing Primer
(F):5'- TCAATGCCCAGGCTCTGATGATAG -3'
(R):5'- GAAAGAATTCATAAATGCCAGCAG -3'

Posted On

2022-09-12