Mutagenetix > Incidental Mutation

Incidental Mutation 'R0853:Cldn6'

82638

Institutional Source

Beutler Lab

Gene Symbol

Cldn6

Ensembl Gene

ENSMUSG00000023906

Gene Name

claudin 6

Synonyms

MMRRC Submission

039032-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0853 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23898345-23901417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23900438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 134 (I134S)

Ref Sequence

ENSEMBL: ENSMUSP00000024699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024698] [ENSMUST00000024699] [ENSMUST00000085989] [ENSMUST00000167059]

AlphaFold

Q9Z262

Predicted Effect

probably benign
Transcript: ENSMUST00000024698

SMART Domains

Protein: ENSMUSP00000024698
Gene: ENSMUSG00000023905

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	129	4.7e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000024699
AA Change: I134S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024699
Gene: ENSMUSG00000023906
AA Change: I134S

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	2.5e-35	PFAM
Pfam:Claudin_2	15	183	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085989

SMART Domains

Protein: ENSMUSP00000093236
Gene: ENSMUSG00000066720

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	9.7e-35	PFAM
Pfam:Claudin_2	15	183	8.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167059

SMART Domains

Protein: ENSMUSP00000131574
Gene: ENSMUSG00000023905

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	35	2.9e-13	PFAM
Pfam:stn_TNFRSF12A	32	94	1.1e-33	PFAM

Meta Mutation Damage Score

0.8508

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.9%

Validation Efficiency

93% (42/45)

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 essential for blastocyst formation in preimplantation mouse embryos, and is invloved in and is crucial for the formation and maintenance of the epidermal permeability barrier. This gene is adjacent to another family member Cldn9 on chromosome 17. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele do not exhibit overt abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	G	T	9: 14,504,074 (GRCm39)	P378Q	probably damaging	Het
Angpt4	A	G	2: 151,780,847 (GRCm39)	E365G	probably damaging	Het
Asb6	G	A	2: 30,717,042 (GRCm39)	P61L	possibly damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Atxn7	C	A	14: 14,089,465 (GRCm38)		probably benign	Het
Cacul1	A	T	19: 60,522,664 (GRCm39)	I290N	probably damaging	Het
Ccser2	A	C	14: 36,662,367 (GRCm39)	S272R	probably benign	Het
Cfh	T	A	1: 140,033,228 (GRCm39)	H772L	probably damaging	Het
Col3a1	T	A	1: 45,382,484 (GRCm39)		probably benign	Het
Fam118a	T	C	15: 84,932,726 (GRCm39)	F156S	possibly damaging	Het
Fgd4	T	A	16: 16,292,251 (GRCm39)		probably benign	Het
Gckr	G	C	5: 31,462,392 (GRCm39)	A242P	probably damaging	Het
Gcnt4	A	G	13: 97,083,343 (GRCm39)	D213G	probably damaging	Het
Hace1	T	A	10: 45,524,779 (GRCm39)	V237E	probably damaging	Het
Herc3	T	C	6: 58,853,549 (GRCm39)	L570P	probably damaging	Het
Hk1	T	A	10: 62,107,495 (GRCm39)	K827*	probably null	Het
Hyal6	T	C	6: 24,734,072 (GRCm39)	F2L	probably benign	Het
Jak2	C	A	19: 29,262,326 (GRCm39)	Y382*	probably null	Het
Kat8	C	T	7: 127,524,396 (GRCm39)	H425Y	probably benign	Het
Kcnj3	T	C	2: 55,327,235 (GRCm39)	F8S	possibly damaging	Het
Klk1	T	A	7: 43,870,922 (GRCm39)		probably benign	Het
Klra8	T	C	6: 130,095,977 (GRCm39)	Y205C	probably damaging	Het
Kpnb1	T	C	11: 97,078,237 (GRCm39)	E26G	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nphp3	T	C	9: 103,909,132 (GRCm39)	S781P	probably benign	Het
Nqo2	A	T	13: 34,163,560 (GRCm39)	H73L	probably benign	Het
P3h3	G	T	6: 124,831,896 (GRCm39)	D296E	probably benign	Het
Pah	G	A	10: 87,412,080 (GRCm39)		probably null	Het
Pcdhb4	T	G	18: 37,442,938 (GRCm39)	Y749*	probably null	Het
Pdgfrb	C	A	18: 61,213,399 (GRCm39)	N914K	probably damaging	Het
Ralyl	A	G	3: 14,011,566 (GRCm39)	Y4C	probably damaging	Het
Rapgef6	T	A	11: 54,559,503 (GRCm39)	I1052N	probably damaging	Het
Sdk2	G	A	11: 113,712,241 (GRCm39)	T1642I	probably benign	Het
Siglec1	G	A	2: 130,926,942 (GRCm39)	T207M	probably damaging	Het
Taf1b	T	C	12: 24,564,827 (GRCm39)	L148P	probably benign	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Tdp1	G	A	12: 99,901,326 (GRCm39)	R536H	probably damaging	Het
Tubgcp5	T	A	7: 55,464,599 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r58	G	T	7: 5,413,324 (GRCm39)	T302K	probably damaging	Het
Zfp1002	A	T	2: 150,097,398 (GRCm39)	S38R	probably benign	Het

Other mutations in Cldn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cldn6	APN	17	23,900,698 (GRCm39)	unclassified	probably benign
IGL01876:Cldn6	APN	17	23,900,158 (GRCm39)	missense	probably damaging	0.98
IGL02529:Cldn6	APN	17	23,900,291 (GRCm39)	missense	probably damaging	0.98
R0681:Cldn6	UTSW	17	23,900,167 (GRCm39)	missense	probably damaging	1.00
R4133:Cldn6	UTSW	17	23,900,467 (GRCm39)	missense	probably damaging	1.00
R4366:Cldn6	UTSW	17	23,900,494 (GRCm39)	missense	probably benign	0.00
R4454:Cldn6	UTSW	17	23,900,060 (GRCm39)	splice site	probably null
R4780:Cldn6	UTSW	17	23,900,221 (GRCm39)	missense	probably benign	0.30
R7775:Cldn6	UTSW	17	23,900,581 (GRCm39)	missense	probably damaging	1.00
R7778:Cldn6	UTSW	17	23,900,581 (GRCm39)	missense	probably damaging	1.00
R7824:Cldn6	UTSW	17	23,900,581 (GRCm39)	missense	probably damaging	1.00
R7863:Cldn6	UTSW	17	23,900,096 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGATGCAGTGCAAGGTGTATGACTC -3'
(R):5'- TTTCTTGATGGCTCAGCTCAGGTTC -3'

Sequencing Primer
(F):5'- CAAGGTGTATGACTCACTGTTG -3'
(R):5'- GCATCACACATAATTCTTGGTGGG -3'

Posted On

2013-11-08