Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00824:Cdh17'

9540

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh17

Ensembl Gene

ENSMUSG00000028217

Gene Name

cadherin 17

Synonyms

BILL-cadherin, HPT-1, LI-cadherin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL00824

Quality Score

Status

Chromosome

Chromosomal Location

11758157-11817905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11784675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 277 (K277R)

Ref Sequence

ENSEMBL: ENSMUSP00000103938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029871] [ENSMUST00000108303]

AlphaFold

Q9R100

Predicted Effect

probably benign
Transcript: ENSMUST00000029871
AA Change: K277R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: K277R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	44	123	5.27e-10	SMART
CA	147	241	6.9e-14	SMART
CA	258	337	3.05e-15	SMART
CA	361	446	3.29e-11	SMART
CA	471	564	5.27e-10	SMART
CA	587	664	5.59e-23	SMART
Blast:CA	687	771	5e-39	BLAST
transmembrane domain	784	806	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108303
AA Change: K277R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: K277R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	44	123	5.27e-10	SMART
CA	147	241	6.9e-14	SMART
CA	258	337	3.05e-15	SMART
CA	361	446	3.29e-11	SMART
CA	471	564	5.27e-10	SMART
CA	587	664	5.59e-23	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl1	A	G	12: 69,979,012 (GRCm39)	T147A	probably damaging	Het
Cyp2j5	A	G	4: 96,552,160 (GRCm39)	F30L	probably benign	Het
Hmcn1	A	T	1: 150,532,485 (GRCm39)	V3134E	probably damaging	Het
Il2ra	T	C	2: 11,687,910 (GRCm39)	V230A	probably benign	Het
Mgst2	C	T	3: 51,589,999 (GRCm39)	P146S	probably benign	Het
Myrfl	T	C	10: 116,685,264 (GRCm39)		probably benign	Het
Nat8f5	A	C	6: 85,794,279 (GRCm39)	L227R	probably damaging	Het
Osbpl2	G	A	2: 179,792,060 (GRCm39)	V255M	probably benign	Het
Papln	A	G	12: 83,817,210 (GRCm39)	S27G	possibly damaging	Het
Paqr7	A	G	4: 134,234,278 (GRCm39)	Y45C	probably damaging	Het
Pkhd1	A	G	1: 20,151,408 (GRCm39)		probably null	Het
Plrg1	C	T	3: 82,975,642 (GRCm39)	T295I	probably damaging	Het
Spata31e2	T	C	1: 26,722,670 (GRCm39)	I837V	possibly damaging	Het
Sypl1	T	A	12: 33,015,505 (GRCm39)		probably benign	Het
Tmco3	T	A	8: 13,342,825 (GRCm39)	V187E	probably damaging	Het
Trmt2b	T	C	X: 133,168,154 (GRCm39)	I47M	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,438 (GRCm39)	N350K	probably benign	Het
Zfp687	A	G	3: 94,916,496 (GRCm39)	L842P	probably damaging	Het

Other mutations in Cdh17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Cdh17	APN	4	11,797,780 (GRCm39)	splice site	probably benign
IGL00823:Cdh17	APN	4	11,783,412 (GRCm39)	missense	possibly damaging	0.78
IGL01572:Cdh17	APN	4	11,784,621 (GRCm39)	splice site	probably benign
IGL01602:Cdh17	APN	4	11,795,670 (GRCm39)	missense	probably damaging	1.00
IGL01605:Cdh17	APN	4	11,795,670 (GRCm39)	missense	probably damaging	1.00
IGL01759:Cdh17	APN	4	11,771,262 (GRCm39)	splice site	probably benign
IGL02065:Cdh17	APN	4	11,771,373 (GRCm39)	splice site	probably benign
IGL02448:Cdh17	APN	4	11,784,680 (GRCm39)	missense	probably benign
IGL02869:Cdh17	APN	4	11,814,908 (GRCm39)	missense	probably benign	0.00
IGL03088:Cdh17	APN	4	11,810,473 (GRCm39)	missense	probably damaging	1.00
Disruptive	UTSW	4	11,784,654 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Cdh17	UTSW	4	11,795,659 (GRCm39)	missense	probably damaging	0.99
R0054:Cdh17	UTSW	4	11,785,186 (GRCm39)	missense	possibly damaging	0.59
R0081:Cdh17	UTSW	4	11,785,280 (GRCm39)	splice site	probably benign
R0101:Cdh17	UTSW	4	11,771,341 (GRCm39)	missense	probably benign	0.00
R0432:Cdh17	UTSW	4	11,771,273 (GRCm39)	nonsense	probably null
R0718:Cdh17	UTSW	4	11,810,451 (GRCm39)	missense	possibly damaging	0.68
R0946:Cdh17	UTSW	4	11,795,581 (GRCm39)	missense	probably benign	0.01
R1076:Cdh17	UTSW	4	11,795,581 (GRCm39)	missense	probably benign	0.01
R1217:Cdh17	UTSW	4	11,799,676 (GRCm39)	missense	probably benign	0.04
R2060:Cdh17	UTSW	4	11,803,982 (GRCm39)	missense	probably benign	0.03
R3808:Cdh17	UTSW	4	11,795,671 (GRCm39)	missense	probably damaging	0.99
R3850:Cdh17	UTSW	4	11,785,201 (GRCm39)	missense	probably damaging	1.00
R4111:Cdh17	UTSW	4	11,814,628 (GRCm39)	missense	probably damaging	0.99
R4112:Cdh17	UTSW	4	11,814,628 (GRCm39)	missense	probably damaging	0.99
R4583:Cdh17	UTSW	4	11,810,466 (GRCm39)	missense	probably benign	0.00
R4683:Cdh17	UTSW	4	11,817,036 (GRCm39)	missense	possibly damaging	0.78
R4797:Cdh17	UTSW	4	11,810,390 (GRCm39)	missense	probably benign	0.00
R5050:Cdh17	UTSW	4	11,784,654 (GRCm39)	missense	probably damaging	1.00
R5071:Cdh17	UTSW	4	11,810,325 (GRCm39)	missense	probably damaging	0.98
R5569:Cdh17	UTSW	4	11,816,990 (GRCm39)	missense	probably damaging	0.96
R5790:Cdh17	UTSW	4	11,814,945 (GRCm39)	splice site	probably null
R6077:Cdh17	UTSW	4	11,803,969 (GRCm39)	missense	probably benign	0.22
R6581:Cdh17	UTSW	4	11,799,615 (GRCm39)	missense	probably damaging	1.00
R7274:Cdh17	UTSW	4	11,783,174 (GRCm39)	nonsense	probably null
R7647:Cdh17	UTSW	4	11,814,698 (GRCm39)	missense	probably damaging	1.00
R7649:Cdh17	UTSW	4	11,814,698 (GRCm39)	missense	probably damaging	1.00
R7934:Cdh17	UTSW	4	11,799,754 (GRCm39)	critical splice donor site	probably null
R8290:Cdh17	UTSW	4	11,817,037 (GRCm39)	missense	probably benign
R8301:Cdh17	UTSW	4	11,795,659 (GRCm39)	missense	probably damaging	0.99
R8690:Cdh17	UTSW	4	11,783,163 (GRCm39)	missense	probably benign	0.05
R8709:Cdh17	UTSW	4	11,795,685 (GRCm39)	nonsense	probably null
R8818:Cdh17	UTSW	4	11,771,323 (GRCm39)	missense	probably damaging	1.00
R8940:Cdh17	UTSW	4	11,783,226 (GRCm39)	missense	probably damaging	1.00
R9243:Cdh17	UTSW	4	11,771,333 (GRCm39)	missense	probably benign	0.26
R9325:Cdh17	UTSW	4	11,810,319 (GRCm39)	missense	probably damaging	0.99
R9457:Cdh17	UTSW	4	11,771,329 (GRCm39)	missense	probably damaging	0.98
X0067:Cdh17	UTSW	4	11,785,224 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06