Mutagenetix > Incidental Mutation

Incidental Mutation 'R4741:Cldn8'

358103

Institutional Source

Beutler Lab

Gene Symbol

Cldn8

Ensembl Gene

ENSMUSG00000050520

Gene Name

claudin 8

Synonyms

MMRRC Submission

042026-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R4741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88357716-88360071 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88359296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 210 (H210Y)

Ref Sequence

ENSEMBL: ENSMUSP00000051887 (fasta)

Gene Model

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

AlphaFold

Q9Z260

Predicted Effect

probably benign
Transcript: ENSMUST00000049697
AA Change: H210Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051887
Gene: ENSMUSG00000050520
AA Change: H210Y

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

0.0625

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl2	T	C	2: 33,136,200 (GRCm39)	Y462H	probably benign	Het
Arhgef12	A	G	9: 42,883,449 (GRCm39)	I1360T	possibly damaging	Het
Armc10	T	G	5: 21,856,834 (GRCm39)	L111R	probably damaging	Het
Atm	T	C	9: 53,364,907 (GRCm39)	K2628E	probably benign	Het
Best3	A	T	10: 116,859,901 (GRCm39)	N387I	probably benign	Het
Bltp1	A	G	3: 36,996,524 (GRCm39)	T1079A	probably damaging	Het
Brpf3	T	C	17: 29,036,758 (GRCm39)	F721S	possibly damaging	Het
Cacna1c	A	G	6: 118,590,271 (GRCm39)	S1411P	probably damaging	Het
Clip2	T	A	5: 134,545,123 (GRCm39)	T344S	probably benign	Het
Csmd1	A	C	8: 15,960,447 (GRCm39)	W3323G	probably damaging	Het
Doc2a	A	T	7: 126,450,617 (GRCm39)	T298S	possibly damaging	Het
Dpp9	T	C	17: 56,512,286 (GRCm39)	N234S	probably benign	Het
Dtx2	C	T	5: 136,055,371 (GRCm39)	R353C	probably benign	Het
Epm2aip1	A	G	9: 111,101,681 (GRCm39)	H218R	probably benign	Het
F2rl1	G	A	13: 95,650,651 (GRCm39)	T77M	probably damaging	Het
Fsd2	A	G	7: 81,201,643 (GRCm39)		probably null	Het
Grin2a	T	C	16: 9,481,376 (GRCm39)	Y475C	probably damaging	Het
H2-Ob	T	A	17: 34,461,545 (GRCm39)	S95T	possibly damaging	Het
Hddc3	A	G	7: 79,995,464 (GRCm39)	T160A	probably benign	Het
Hp	A	T	8: 110,302,104 (GRCm39)	C281*	probably null	Het
Ighg1	T	C	12: 113,290,178 (GRCm39)		probably benign	Het
Ints7	A	G	1: 191,351,747 (GRCm39)	I819V	probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Jmjd1c	A	G	10: 67,060,718 (GRCm39)	I737V	possibly damaging	Het
Krt74	C	T	15: 101,669,876 (GRCm39)		noncoding transcript	Het
Lnpep	T	C	17: 17,791,920 (GRCm39)	Y407C	probably damaging	Het
Lrp4	T	G	2: 91,341,912 (GRCm39)	C1842G	probably damaging	Het
Mug2	T	A	6: 122,056,572 (GRCm39)	N1172K	probably benign	Het
Npy6r	A	T	18: 44,408,791 (GRCm39)	T71S	probably damaging	Het
Nsd3	A	T	8: 26,163,382 (GRCm39)	I591F	probably damaging	Het
Oog2	A	C	4: 143,921,715 (GRCm39)	E208D	possibly damaging	Het
Otogl	A	G	10: 107,615,121 (GRCm39)	I1928T	probably benign	Het
Papss1	T	C	3: 131,324,860 (GRCm39)	L418P	probably damaging	Het
Pcdhb13	T	A	18: 37,576,571 (GRCm39)	D316E	probably benign	Het
Pcdhgb2	T	A	18: 37,824,737 (GRCm39)		probably null	Het
Ptcd3	T	A	6: 71,879,933 (GRCm39)	L108F	probably damaging	Het
Ralgps1	T	C	2: 33,226,599 (GRCm39)	S31G	probably benign	Het
Rnf225	A	T	7: 12,661,857 (GRCm39)	H12L	probably benign	Het
Ryr3	T	A	2: 112,633,613 (GRCm39)	M2047L	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb3b	G	T	1: 107,082,200 (GRCm39)	Q355K	probably benign	Het
Slc8a2	T	A	7: 15,868,233 (GRCm39)	F155Y	probably damaging	Het
Taf1c	A	G	8: 120,330,134 (GRCm39)		probably benign	Het
Tln2	A	G	9: 67,293,837 (GRCm39)		probably null	Het
Tmpo	A	G	10: 90,998,506 (GRCm39)	V427A	probably benign	Het
Vmn1r17	A	T	6: 57,338,337 (GRCm39)	Y9*	probably null	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfand5	C	T	19: 21,253,845 (GRCm39)	T16I	probably damaging	Het
Zfp352	A	T	4: 90,113,177 (GRCm39)	K439M	possibly damaging	Het
Zfp786	G	A	6: 47,797,625 (GRCm39)	H438Y	probably damaging	Het
Zfp808	T	A	13: 62,319,763 (GRCm39)	C331S	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
R4430: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
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'- ACATAGACGCTGCATATTTCCTC -3'
(R):5'- TGCCAATTCCATCATCAGAGAC -3'

Sequencing Primer
(F):5'- CCTCTAATGAGTGCTAGGCAG -3'
(R):5'- CAGAGACTTCTACAACCCACTGGTG -3'

Posted On

2015-11-11