Mutagenetix > Incidental Mutation

Incidental Mutation 'R1076:Cldn4'

85648

Institutional Source

Beutler Lab

Gene Symbol

Cldn4

Ensembl Gene

ENSMUSG00000047501

Gene Name

claudin 4

Synonyms

Cpetr1, Cpetr

MMRRC Submission

039162-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

R1076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134973977-134975788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134975191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 137 (S137P)

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 damaging
Transcript: ENSMUST00000051401
AA Change: S137P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053420
Gene: ENSMUSG00000047501
AA Change: S137P

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

Meta Mutation Damage Score

0.6093

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.1%

Validation Efficiency

100% (39/39)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	T	C	14: 52,001,759 (GRCm39)	K63R	probably damaging	Het
Ankrd50	T	C	3: 38,509,071 (GRCm39)	N176D	probably damaging	Het
Apbb1	A	T	7: 105,223,062 (GRCm39)	L183Q	probably benign	Het
Cdh17	T	C	4: 11,795,581 (GRCm39)	V387A	probably benign	Het
Cnn1	A	T	9: 22,019,165 (GRCm39)	Q157L	probably damaging	Het
Csn1s1	A	T	5: 87,824,242 (GRCm39)		probably null	Het
Dennd3	C	T	15: 73,412,582 (GRCm39)	H415Y	probably damaging	Het
Dnpep	A	G	1: 75,292,582 (GRCm39)		probably benign	Het
Dram1	C	A	10: 88,161,246 (GRCm39)	V208L	probably damaging	Het
Elovl2	A	G	13: 41,343,583 (GRCm39)	V115A	possibly damaging	Het
Fryl	C	T	5: 73,282,016 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,492,692 (GRCm39)	T707A	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ktn1	T	A	14: 47,932,095 (GRCm39)	M674K	probably damaging	Het
Larp4	A	G	15: 99,895,311 (GRCm39)	T295A	probably benign	Het
Lrp1	T	C	10: 127,399,666 (GRCm39)		probably benign	Het
Lypd10	A	G	7: 24,413,167 (GRCm39)	K162R	probably benign	Het
Macf1	T	C	4: 123,279,391 (GRCm39)	D3870G	probably damaging	Het
Mctp2	T	G	7: 71,835,615 (GRCm39)		probably null	Het
Nbn	A	T	4: 15,970,719 (GRCm39)		probably null	Het
Neb	A	G	2: 52,094,904 (GRCm39)	Y4883H	probably damaging	Het
Nsun6	A	T	2: 15,014,283 (GRCm39)	C286S	probably benign	Het
Pabpc4	T	A	4: 123,186,701 (GRCm39)	D307E	possibly damaging	Het
Pik3cg	G	A	12: 32,245,713 (GRCm39)		probably benign	Het
Ptpdc1	C	T	13: 48,740,286 (GRCm39)	E382K	probably damaging	Het
Serpina3k	A	G	12: 104,307,253 (GRCm39)	T162A	probably benign	Het
Sis	T	C	3: 72,841,431 (GRCm39)	T795A	probably damaging	Het
Skint8	T	A	4: 111,784,416 (GRCm39)	V14E	probably damaging	Het
Slc2a1	T	G	4: 118,991,645 (GRCm39)	M351R	probably damaging	Het
Slc41a3	G	A	6: 90,621,142 (GRCm39)	C394Y	probably benign	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Ulk2	G	A	11: 61,710,135 (GRCm39)	H358Y	probably damaging	Het
Utp20	A	T	10: 88,608,405 (GRCm39)	I1544N	possibly damaging	Het
Utp20	A	G	10: 88,608,321 (GRCm39)	M1572T	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCACCTTACACATAGTTGCTGG -3'
(R):5'- AAGATGTACGACTCGATGCTCGCC -3'

Sequencing Primer
(F):5'- GGCTTGTCGTTGCTACGA -3'
(R):5'- AGCCCTTATGGTCATCAGCA -3'

Posted On

2013-11-18