Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Cldn1'

244023

Institutional Source

Beutler Lab

Gene Symbol

Cldn1

Ensembl Gene

ENSMUSG00000022512

Gene Name

claudin 1

Synonyms

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26175395-26190589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26177949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 159 (Y159H)

Ref Sequence

ENSEMBL: ENSMUSP00000023154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023154]

AlphaFold

O88551

Predicted Effect

probably damaging
Transcript: ENSMUST00000023154
AA Change: Y159H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023154
Gene: ENSMUSG00000022512
AA Change: Y159H

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	2e-54	PFAM
Pfam:Claudin_2	15	184	4.4e-10	PFAM
low complexity region	187	205	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232215

Meta Mutation Damage Score

0.7558

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

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 knockout mice lacking this gene die soon after birth as a consequence of dehydration from trandermal water loss, indicating that this gene is indispensable for creating and maintaining the epidermal barrier. The protein encoded by this gene also has gastric tumor suppressive activity, and is a key factor for hepatitis C virus (HCV) entry. [provided by RefSeq, Aug 2010]
PHENOTYPE: Animals homozygous for a mutation in this gene have wrinkled skin and die within 1 day after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	Het

Other mutations in Cldn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01471:Cldn1	APN	16	26,190,322 (GRCm39)	missense	possibly damaging	0.59
IGL02937:Cldn1	APN	16	26,179,623 (GRCm39)	missense	probably damaging	1.00
R1626:Cldn1	UTSW	16	26,190,202 (GRCm39)	missense	probably damaging	1.00
R2131:Cldn1	UTSW	16	26,190,300 (GRCm39)	missense	probably damaging	0.98
R3778:Cldn1	UTSW	16	26,190,216 (GRCm39)	missense	probably damaging	1.00
R4850:Cldn1	UTSW	16	26,181,913 (GRCm39)	missense	probably benign	0.04
R5711:Cldn1	UTSW	16	26,190,167 (GRCm39)	missense	probably damaging	1.00
R5753:Cldn1	UTSW	16	26,181,871 (GRCm39)	missense	probably benign	0.01
R6017:Cldn1	UTSW	16	26,181,969 (GRCm39)	missense	probably damaging	1.00
R7134:Cldn1	UTSW	16	26,190,376 (GRCm39)	start codon destroyed	probably null	0.98
R7199:Cldn1	UTSW	16	26,190,346 (GRCm39)	missense	probably benign	0.06
R7373:Cldn1	UTSW	16	26,179,606 (GRCm39)	missense	probably damaging	1.00
R7600:Cldn1	UTSW	16	26,179,669 (GRCm39)	missense	probably benign
R7675:Cldn1	UTSW	16	26,190,261 (GRCm39)	missense	probably benign	0.00
R8840:Cldn1	UTSW	16	26,190,286 (GRCm39)	missense	possibly damaging	0.61
R9489:Cldn1	UTSW	16	26,181,924 (GRCm39)	missense	probably damaging	1.00
R9508:Cldn1	UTSW	16	26,179,619 (GRCm39)	nonsense	probably null
R9605:Cldn1	UTSW	16	26,181,924 (GRCm39)	missense	probably damaging	1.00
Z1177:Cldn1	UTSW	16	26,179,614 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTATTTGCTCCAGGAAGATCTC -3'
(R):5'- GCCTCCTTTGCTTGGAAAGG -3'

Sequencing Primer
(F):5'- GAAGATCTCTTCCTTTGCCTCTG -3'
(R):5'- ATTGCATGTCCTATTACCAATGTGC -3'

Posted On

2014-10-16