Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03303:Cldn4'

416309

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: 0.404) question?

Stock #

IGL03303

Quality Score

Status

Chromosome

Chromosomal Location

134973977-134975788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134975103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 166 (V166A)

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

possibly damaging
Transcript: ENSMUST00000051401
AA Change: V166A

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053420
Gene: ENSMUSG00000047501
AA Change: V166A

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,644,122 (GRCm39)	V940E	probably damaging	Het
Agap1	T	A	1: 89,592,874 (GRCm39)	V307D	probably damaging	Het
Amd1	A	G	10: 40,166,121 (GRCm39)	V286A	possibly damaging	Het
Bltp1	A	G	3: 36,924,226 (GRCm39)	E17G	possibly damaging	Het
Chrne	T	C	11: 70,505,926 (GRCm39)	K453R	possibly damaging	Het
Ckm	T	A	7: 19,148,263 (GRCm39)		probably benign	Het
Ckmt1	A	G	2: 121,190,486 (GRCm39)	T138A	probably benign	Het
Dclre1a	T	C	19: 56,535,198 (GRCm39)	T129A	possibly damaging	Het
Dlgap2	T	A	8: 14,777,812 (GRCm39)	D352E	probably damaging	Het
Dnmt1	A	G	9: 20,838,006 (GRCm39)	I236T	probably benign	Het
Enam	G	T	5: 88,652,450 (GRCm39)	V1320L	probably benign	Het
Ezh1	A	C	11: 101,086,497 (GRCm39)		probably null	Het
F13b	A	T	1: 139,440,774 (GRCm39)	D410V	possibly damaging	Het
Fcrl6	A	T	1: 172,425,255 (GRCm39)	Y259N	probably damaging	Het
Fpr-rs7	A	T	17: 20,334,001 (GRCm39)	F163Y	possibly damaging	Het
Gpihbp1	C	T	15: 75,469,827 (GRCm39)	Q181*	probably null	Het
Htr2b	T	C	1: 86,027,061 (GRCm39)		probably benign	Het
Igkv1-35	A	G	6: 69,988,635 (GRCm39)	I8T	probably benign	Het
Kcnq2	T	C	2: 180,724,182 (GRCm39)	T584A	probably benign	Het
Khdrbs3	A	G	15: 68,896,672 (GRCm39)	T111A	probably benign	Het
Krtap29-1	A	T	11: 99,869,669 (GRCm39)	C71S	probably benign	Het
Lrrc4c	A	T	2: 97,459,937 (GRCm39)	I188F	probably damaging	Het
Med1	G	T	11: 98,049,178 (GRCm39)	N539K	probably damaging	Het
Mga	T	A	2: 119,733,933 (GRCm39)	D260E	probably damaging	Het
Mnd1	A	G	3: 84,012,244 (GRCm39)	I155T	probably benign	Het
Msrb3	T	C	10: 120,620,046 (GRCm39)	D91G	probably benign	Het
Mycbp2	A	T	14: 103,485,194 (GRCm39)	D1102E	probably damaging	Het
Nfx1	T	A	4: 41,004,323 (GRCm39)		probably benign	Het
Nrsn2	T	C	2: 152,216,131 (GRCm39)	D24G	possibly damaging	Het
Or4c127	A	T	2: 89,832,810 (GRCm39)	K20I	possibly damaging	Het
Osmr	T	A	15: 6,872,289 (GRCm39)	R268S	probably benign	Het
Pelo	C	A	13: 115,225,197 (GRCm39)	V343L	probably damaging	Het
Rp1	T	A	1: 4,415,040 (GRCm39)	N2024I	probably damaging	Het
Rps6ka2	C	T	17: 7,495,411 (GRCm39)	Q33*	probably null	Het
Slfn2	G	A	11: 82,960,293 (GRCm39)	V91I	possibly damaging	Het
Socs6	G	T	18: 88,887,868 (GRCm39)	A349E	probably damaging	Het
Syt2	A	G	1: 134,669,649 (GRCm39)	N97D	probably benign	Het
Tas2r123	T	A	6: 132,824,401 (GRCm39)	H99Q	probably damaging	Het
Tmc3	A	G	7: 83,239,933 (GRCm39)		probably benign	Het
Ube2s	A	T	7: 4,813,476 (GRCm39)	V35D	probably damaging	Het
Usp32	A	T	11: 84,913,658 (GRCm39)	V891D	probably damaging	Het
Vmn1r169	A	T	7: 23,277,434 (GRCm39)	E275D	probably benign	Het
Vps13c	A	G	9: 67,841,786 (GRCm39)	H1936R	probably benign	Het
Wrap73	C	A	4: 154,231,000 (GRCm39)	A92E	probably damaging	Het
Zfhx4	C	T	3: 5,468,410 (GRCm39)	T2856M	probably damaging	Het
Zmym1	A	T	4: 126,942,927 (GRCm39)	I487N	probably damaging	Het

Other mutations in Cldn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Cldn4	APN	5	134,975,343 (GRCm39)	missense	probably benign	0.29
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

2016-08-02