Mutagenetix > Incidental Mutation

Incidental Mutation 'R4430:Cldn8'

328581

Institutional Source

Beutler Lab

Gene Symbol

Cldn8

Ensembl Gene

ENSMUSG00000050520

Gene Name

claudin 8

Synonyms

MMRRC Submission

041700-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88357716-88360071 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88359619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 102 (M102R)

Ref Sequence

ENSEMBL: ENSMUSP00000051887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049697]

AlphaFold

Q9Z260

Predicted Effect

probably damaging
Transcript: ENSMUST00000049697
AA Change: M102R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051887
Gene: ENSMUSG00000050520
AA Change: M102R

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	2.9e-32	PFAM
Pfam:Claudin_2	15	184	5.6e-10	PFAM

Meta Mutation Damage Score

0.5186

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This intronless 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 paracellular cation barrier. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,963,348 (GRCm39)	N926S	unknown	Het
Ahi1	T	A	10: 20,847,977 (GRCm39)	C462S	probably damaging	Het
Ahnak	A	G	19: 8,980,404 (GRCm39)	I563V	probably benign	Het
Ankrd55	G	A	13: 112,459,717 (GRCm39)		probably null	Het
Bag3	A	G	7: 128,125,647 (GRCm39)	D22G	probably damaging	Het
Col15a1	T	C	4: 47,245,705 (GRCm39)	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,198,004 (GRCm39)	I166T	probably benign	Het
Dnah11	T	C	12: 117,946,746 (GRCm39)	I3113V	probably benign	Het
Gli2	T	C	1: 118,764,974 (GRCm39)	H1059R	probably benign	Het
Gm14412	C	A	2: 177,007,625 (GRCm39)	S90I	probably benign	Het
L1td1	A	G	4: 98,625,388 (GRCm39)	R528G	probably benign	Het
Mcm3	A	T	1: 20,882,217 (GRCm39)	L449*	probably null	Het
Mif4gd	T	C	11: 115,499,328 (GRCm39)	T185A	probably benign	Het
Mphosph9	T	C	5: 124,403,509 (GRCm39)	S840G	possibly damaging	Het
Nherf4	C	T	9: 44,161,041 (GRCm39)	S175N	probably benign	Het
Nim1k	C	A	13: 120,174,078 (GRCm39)	R272L	possibly damaging	Het
Or5b104	C	T	19: 13,072,452 (GRCm39)	V187I	probably benign	Het
Or6c213	T	A	10: 129,574,130 (GRCm39)	I219F	probably damaging	Het
Or8k32	A	G	2: 86,368,731 (GRCm39)	I176T	probably damaging	Het
Pax3	A	G	1: 78,171,961 (GRCm39)	V83A	probably damaging	Het
Pde3b	C	T	7: 114,133,905 (GRCm39)	P974S	probably damaging	Het
Pglyrp3	T	A	3: 91,938,798 (GRCm39)	D324E	probably damaging	Het
Pus7	A	G	5: 23,951,487 (GRCm39)	Y521H	probably benign	Het
Ryr2	A	G	13: 11,750,413 (GRCm39)	S1953P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox5	A	G	6: 143,987,000 (GRCm39)	I188T	possibly damaging	Het
Spata4	T	C	8: 55,054,878 (GRCm39)	I86T	probably benign	Het
Ssc5d	T	C	7: 4,946,663 (GRCm39)	S1006P	probably benign	Het
Stk10	T	C	11: 32,483,552 (GRCm39)	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 132,849,972 (GRCm39)	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem201	A	C	4: 149,815,596 (GRCm39)	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trhde	A	T	10: 114,339,028 (GRCm39)	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,401,951 (GRCm39)	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,519,449 (GRCm39)	M503K	probably benign	Het
Zfp54	T	G	17: 21,655,222 (GRCm39)	V572G	probably damaging	Het

Other mutations in Cldn8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02888:Cldn8	APN	16	88,359,271 (GRCm39)	missense	probably benign	0.00
R0038:Cldn8	UTSW	16	88,359,922 (GRCm39)	start codon destroyed	probably null	1.00
R0038:Cldn8	UTSW	16	88,359,922 (GRCm39)	start codon destroyed	probably null	1.00
R0332:Cldn8	UTSW	16	88,359,246 (GRCm39)	synonymous	silent
R0690:Cldn8	UTSW	16	88,359,527 (GRCm39)	missense	probably damaging	1.00
R1496:Cldn8	UTSW	16	88,359,289 (GRCm39)	missense	probably benign
R1832:Cldn8	UTSW	16	88,359,746 (GRCm39)	missense	probably benign	0.07
R3052:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R3053:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4428:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4429:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4431:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4465:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4485:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4659:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R4660:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R4662:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R4679:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R4741:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R6591:Cldn8	UTSW	16	88,359,423 (GRCm39)	missense	possibly damaging	0.73
R6691:Cldn8	UTSW	16	88,359,423 (GRCm39)	missense	possibly damaging	0.73
R7684:Cldn8	UTSW	16	88,359,335 (GRCm39)	missense	probably damaging	1.00
R7959:Cldn8	UTSW	16	88,359,829 (GRCm39)	missense	probably damaging	1.00
R8987:Cldn8	UTSW	16	88,359,733 (GRCm39)	missense	probably damaging	1.00
R9065:Cldn8	UTSW	16	88,359,902 (GRCm39)	missense	probably benign
R9756:Cldn8	UTSW	16	88,359,917 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CTGTGGTCCAGCCTATGTAG -3'
(R):5'- AACATTGTGGTGTTTGAGAACCG -3'

Sequencing Primer
(F):5'- CAGCCTATGTAGAGGGCTTCTC -3'
(R):5'- AACCGCTGGGAAGGCTTG -3'

Posted On

2015-07-21