Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01481:Cldn17'

88629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cldn17

Ensembl Gene

ENSMUSG00000055811

Gene Name

claudin 17

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01481

Quality Score

Status

Chromosome

Chromosomal Location

88302695-88303866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88303471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000066427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069549]

AlphaFold

Q8BXA6

Predicted Effect

probably benign
Transcript: ENSMUST00000069549
AA Change: V86A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000066427
Gene: ENSMUSG00000055811
AA Change: V86A

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	9.8e-29	PFAM
Pfam:Claudin_2	16	184	2.6e-9	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and is clustered with the Cldn8 gene on chromosome 16. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,910,079 (GRCm39)	S523C	probably damaging	Het
Apaf1	A	T	10: 90,867,450 (GRCm39)	D798E	possibly damaging	Het
Arhgef7	G	T	8: 11,865,256 (GRCm39)	V410L	probably benign	Het
Capn7	T	C	14: 31,077,296 (GRCm39)	L338P	probably damaging	Het
Clec4a2	A	G	6: 123,119,459 (GRCm39)	N237S	probably benign	Het
Cmtr1	T	G	17: 29,917,631 (GRCm39)	I654S	probably benign	Het
Cryzl2	G	A	1: 157,298,309 (GRCm39)		probably null	Het
Ctif	A	G	18: 75,744,855 (GRCm39)		probably benign	Het
Dcaf7	T	A	11: 105,945,572 (GRCm39)	I307N	probably damaging	Het
Drosha	A	T	15: 12,842,525 (GRCm39)	T399S	probably benign	Het
Eef2k	A	T	7: 120,494,441 (GRCm39)	Y35F	probably benign	Het
Emc1	T	C	4: 139,089,410 (GRCm39)	S193P	probably benign	Het
Fpr2	T	C	17: 18,113,025 (GRCm39)	I7T	probably benign	Het
Fras1	C	A	5: 96,805,100 (GRCm39)	N1247K	probably damaging	Het
Gipr	T	C	7: 18,893,431 (GRCm39)		probably benign	Het
Heatr5a	C	T	12: 52,002,208 (GRCm39)	G243S	probably damaging	Het
Hivep2	G	A	10: 14,024,981 (GRCm39)	R2265Q	probably benign	Het
Iars1	T	C	13: 49,882,174 (GRCm39)	S1073P	probably benign	Het
Inpp4b	T	C	8: 82,724,009 (GRCm39)	S514P	probably damaging	Het
Inpp5b	T	A	4: 124,694,492 (GRCm39)		probably null	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Itih5	A	C	2: 10,195,100 (GRCm39)	Q164P	probably damaging	Het
Map3k19	T	A	1: 127,750,215 (GRCm39)	E1045D	probably damaging	Het
Mbd5	T	C	2: 49,168,951 (GRCm39)	V1374A	possibly damaging	Het
Mrps34	T	C	17: 25,116,310 (GRCm39)		probably benign	Het
Nadsyn1	T	C	7: 143,366,321 (GRCm39)	D191G	probably damaging	Het
Nlrc3	T	G	16: 3,781,769 (GRCm39)	N563H	probably damaging	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Or10g6	T	C	9: 39,934,574 (GRCm39)	M295T	possibly damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or4a79	A	G	2: 89,551,870 (GRCm39)	L195P	probably damaging	Het
Or52u1	C	A	7: 104,237,067 (GRCm39)	P36T	probably damaging	Het
Pdgfd	C	A	9: 6,337,271 (GRCm39)	T195K	probably null	Het
Ptprz1	C	A	6: 22,999,979 (GRCm39)	Q690K	probably benign	Het
Scfd1	T	A	12: 51,430,903 (GRCm39)	M23K	probably damaging	Het
Scn10a	G	A	9: 119,438,260 (GRCm39)	R1869C	probably damaging	Het
Scp2	T	C	4: 107,931,639 (GRCm39)		probably null	Het
Sec61a1	A	G	6: 88,483,829 (GRCm39)	V354A	probably benign	Het
Sgpp1	T	C	12: 75,769,431 (GRCm39)	I246V	probably benign	Het
Slco2a1	G	T	9: 102,947,450 (GRCm39)	D250Y	probably damaging	Het
Slit2	A	G	5: 48,460,273 (GRCm39)	N1435D	probably benign	Het
Sspo	A	G	6: 48,425,449 (GRCm39)	I23M	probably benign	Het
Steap4	A	T	5: 8,026,858 (GRCm39)	T274S	probably damaging	Het
Tbc1d22b	T	C	17: 29,787,572 (GRCm39)	L107P	possibly damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tmem45a2	T	A	16: 56,867,375 (GRCm39)	I109F	probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tox	T	A	4: 6,842,396 (GRCm39)	T45S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Wdr7	G	A	18: 63,872,250 (GRCm39)	D395N	probably damaging	Het

Other mutations in Cldn17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:Cldn17	APN	16	88,303,045 (GRCm39)	utr 3 prime	probably benign
IGL01505:Cldn17	APN	16	88,303,591 (GRCm39)	missense	possibly damaging	0.67
IGL03100:Cldn17	APN	16	88,303,489 (GRCm39)	missense	probably damaging	1.00
BB002:Cldn17	UTSW	16	88,303,533 (GRCm39)	missense	probably damaging	1.00
BB012:Cldn17	UTSW	16	88,303,533 (GRCm39)	missense	probably damaging	1.00
R1721:Cldn17	UTSW	16	88,303,444 (GRCm39)	missense	probably damaging	1.00
R5944:Cldn17	UTSW	16	88,303,597 (GRCm39)	missense	probably damaging	1.00
R6200:Cldn17	UTSW	16	88,303,459 (GRCm39)	missense	probably damaging	1.00
R6750:Cldn17	UTSW	16	88,303,195 (GRCm39)	missense	possibly damaging	0.88
R7698:Cldn17	UTSW	16	88,303,244 (GRCm39)	nonsense	probably null
R7925:Cldn17	UTSW	16	88,303,533 (GRCm39)	missense	probably damaging	1.00
X0025:Cldn17	UTSW	16	88,303,280 (GRCm39)	missense	probably benign	0.00

Posted On

2013-11-18