Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01356:Cldn4'

75516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cldn4

Ensembl Gene

ENSMUSG00000047501

Gene Name

claudin 4

Synonyms

Cpetr1, Cpetr

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.434) question?

Stock #

IGL01356

Quality Score

Status

Chromosome

Chromosomal Location

134973977-134975788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134975343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 86 (I86T)

Ref Sequence

ENSEMBL: ENSMUSP00000053420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047196] [ENSMUST00000051401] [ENSMUST00000068617] [ENSMUST00000111219] [ENSMUST00000111221]

AlphaFold

O35054

Predicted Effect

probably benign
Transcript: ENSMUST00000047196

SMART Domains

Protein: ENSMUSP00000039080
Gene: ENSMUSG00000040557

Domain	Start	End	E-Value	Type
Pfam:Ubie_methyltran	29	188	1.4e-11	PFAM
Pfam:Methyltransf_23	45	217	4.9e-13	PFAM
Pfam:MetW	62	165	6.4e-8	PFAM
Pfam:Methyltransf_18	67	169	4.7e-14	PFAM
Pfam:Methyltransf_31	67	215	1.4e-12	PFAM
Pfam:Methyltransf_25	71	162	1.4e-10	PFAM
Pfam:Methyltransf_12	72	164	1.8e-10	PFAM
Pfam:Methyltransf_11	72	166	2.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051401
AA Change: I86T

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053420
Gene: ENSMUSG00000047501
AA Change: I86T

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	1.1e-36	PFAM
Pfam:Claudin_2	15	183	1.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068617

SMART Domains

Protein: ENSMUSP00000067814
Gene: ENSMUSG00000040557

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	46	185	9e-9	PFAM
Pfam:Methyltransf_18	67	164	3.8e-10	PFAM
Pfam:Methyltransf_11	72	148	9.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111219

SMART Domains

Protein: ENSMUSP00000106850
Gene: ENSMUSG00000040557

Domain	Start	End	E-Value	Type
Pfam:Ubie_methyltran	29	188	1.4e-11	PFAM
Pfam:Methyltransf_23	46	219	6.2e-14	PFAM
Pfam:MetW	62	165	6.4e-8	PFAM
Pfam:Methyltransf_18	67	169	7.2e-15	PFAM
Pfam:Methyltransf_31	67	216	1e-12	PFAM
Pfam:Methyltransf_25	71	162	1.3e-10	PFAM
Pfam:Methyltransf_12	72	164	1.8e-10	PFAM
Pfam:Methyltransf_11	72	166	5.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111221

SMART Domains

Protein: ENSMUSP00000106852
Gene: ENSMUSG00000040557

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	46	185	9e-9	PFAM
Pfam:Methyltransf_18	67	164	3.8e-10	PFAM
Pfam:Methyltransf_11	72	148	9.6e-8	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. The protein encoded by this gene is a high-affinity receptor for clostridium perfringens enterotoxin (CPE) produced by the bacterium Clostridium perfringens, and the interaction with CPE results in increased membrane permeability by forming small pores in plasma membrane. This protein augments alveolar epithelial barrier function and is induced in acute lung injury. It is highly expressed in pancreatic and ovarian cancers. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hydropherosis due to kidney pelvis and ureteral urothelium proliferation that leads to impaired calcium and chloride ion reabsorbtion and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA474408	T	C	7: 109,660,189 (GRCm39)		probably benign	Het
Acsl1	T	C	8: 46,964,500 (GRCm39)		probably null	Het
Adck2	T	C	6: 39,560,854 (GRCm39)	V463A	probably benign	Het
Armh3	C	T	19: 45,954,742 (GRCm39)	C149Y	possibly damaging	Het
B4galt4	T	A	16: 38,574,506 (GRCm39)	I224N	probably damaging	Het
Caprin1	T	C	2: 103,605,801 (GRCm39)	T396A	probably benign	Het
Cbx3	T	C	6: 51,452,281 (GRCm39)	V32A	probably damaging	Het
Chd1	A	T	17: 15,970,127 (GRCm39)	K960I	probably damaging	Het
Cst12	A	C	2: 148,631,468 (GRCm39)	D50A	probably damaging	Het
Dock10	A	G	1: 80,501,459 (GRCm39)	Y1864H	probably damaging	Het
Dscaml1	G	A	9: 45,658,155 (GRCm39)	G1642E	probably benign	Het
Jakmip3	T	C	7: 138,619,341 (GRCm39)	L241P	probably damaging	Het
Kdm1a	C	T	4: 136,281,202 (GRCm39)	R669H	probably damaging	Het
Lin54	G	A	5: 100,601,876 (GRCm39)	P455S	probably damaging	Het
Lrig1	A	G	6: 94,631,901 (GRCm39)	Y100H	probably benign	Het
Lrig1	G	A	6: 94,586,874 (GRCm39)	P601S	probably damaging	Het
Mtrf1	A	G	14: 79,660,865 (GRCm39)	D419G	probably benign	Het
Naca	C	T	10: 127,877,584 (GRCm39)		probably benign	Het
Naip1	A	G	13: 100,559,722 (GRCm39)	L1094P	probably damaging	Het
Nell2	A	T	15: 95,127,064 (GRCm39)	N770K	probably damaging	Het
Notch4	A	G	17: 34,800,000 (GRCm39)	H987R	possibly damaging	Het
Or2a52	T	A	6: 43,144,324 (GRCm39)	C111S	probably damaging	Het
Or5p63	T	A	7: 107,810,933 (GRCm39)	I268F	probably benign	Het
Or7g26	T	A	9: 19,230,238 (GRCm39)	M142K	probably damaging	Het
Pate13	T	A	9: 35,820,244 (GRCm39)	C33*	probably null	Het
Plcg1	G	T	2: 160,595,813 (GRCm39)	G561W	probably damaging	Het
Ripor3	T	A	2: 167,835,495 (GRCm39)	M159L	probably benign	Het
Serpinb6a	A	G	13: 34,109,400 (GRCm39)	S111P	possibly damaging	Het
Tas1r3	A	T	4: 155,945,784 (GRCm39)	H537Q	probably benign	Het
Tefm	G	A	11: 80,028,823 (GRCm39)	R43*	probably null	Het
Tiam1	A	G	16: 89,634,676 (GRCm39)	V878A	probably damaging	Het
Vmn1r203	A	G	13: 22,708,947 (GRCm39)	S243G	probably damaging	Het
Vmn2r124	G	T	17: 18,293,733 (GRCm39)	V607L	probably benign	Het
Vps8	T	G	16: 21,336,107 (GRCm39)		probably null	Het
Ythdf2	A	T	4: 131,932,661 (GRCm39)	D166E	possibly damaging	Het
Zan	A	G	5: 137,434,694 (GRCm39)	V2203A	unknown	Het

Other mutations in Cldn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03303:Cldn4	APN	5	134,975,103 (GRCm39)	missense	possibly damaging	0.73
PIT1430001:Cldn4	UTSW	5	134,975,514 (GRCm39)	missense	possibly damaging	0.62
R0645:Cldn4	UTSW	5	134,975,645 (GRCm39)	start gained	probably benign
R1076:Cldn4	UTSW	5	134,975,191 (GRCm39)	missense	probably damaging	1.00
R2427:Cldn4	UTSW	5	134,975,331 (GRCm39)	missense	probably damaging	0.96
R5976:Cldn4	UTSW	5	134,975,410 (GRCm39)	missense	probably damaging	1.00
R9417:Cldn4	UTSW	5	134,975,174 (GRCm39)	missense	probably benign	0.27
Z1088:Cldn4	UTSW	5	134,975,452 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07