Mutagenetix > Incidental Mutation

Incidental Mutation 'R1626:Cldn1'

172531

Institutional Source

Beutler Lab

Gene Symbol

Cldn1

Ensembl Gene

ENSMUSG00000022512

Gene Name

claudin 1

Synonyms

MMRRC Submission

039663-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26175395-26190589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26190202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 59 (T59A)

Ref Sequence

ENSEMBL: ENSMUSP00000023154 (fasta)

Gene Model

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

AlphaFold

O88551

Predicted Effect

probably damaging
Transcript: ENSMUST00000023154
AA Change: T59A

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

SMART Domains

Protein: ENSMUSP00000023154
Gene: ENSMUSG00000022512
AA Change: T59A

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.1%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,571 (GRCm39)	Y71H	possibly damaging	Het
Acsl6	C	A	11: 54,242,872 (GRCm39)	P628T	probably damaging	Het
Ak7	A	G	12: 105,734,807 (GRCm39)	D591G	probably benign	Het
Anxa5	T	C	3: 36,516,130 (GRCm39)	D66G	probably damaging	Het
Cacna1b	G	A	2: 24,496,721 (GRCm39)	T2283I	probably damaging	Het
Cand1	A	T	10: 119,045,919 (GRCm39)	D995E	possibly damaging	Het
Cblc	G	T	7: 19,530,427 (GRCm39)	A94E	probably damaging	Het
Cd48	G	A	1: 171,509,687 (GRCm39)	C9Y	probably benign	Het
Chd9	A	G	8: 91,721,224 (GRCm39)	K1004R	probably benign	Het
Cilk1	A	G	9: 78,057,919 (GRCm39)	Y156C	probably damaging	Het
Col11a1	G	A	3: 113,925,218 (GRCm39)	G17D	probably damaging	Het
Cpeb1	A	G	7: 81,085,995 (GRCm39)	V49A	probably damaging	Het
Cyp4b1	G	T	4: 115,498,855 (GRCm39)	P109Q	probably damaging	Het
Dhrs7b	T	A	11: 60,735,082 (GRCm39)	F23I	possibly damaging	Het
Dnah9	C	A	11: 65,976,093 (GRCm39)	A1319S	probably benign	Het
Egf	A	T	3: 129,479,864 (GRCm39)	V553D	possibly damaging	Het
Fbn1	T	C	2: 125,183,199 (GRCm39)	D1760G	probably damaging	Het
Fbxo31	A	G	8: 122,286,745 (GRCm39)	F178L	probably damaging	Het
Fstl4	C	A	11: 52,891,117 (GRCm39)	S85*	probably null	Het
Gfm1	A	G	3: 67,345,977 (GRCm39)	Y225C	probably damaging	Het
Gm10797	A	T	10: 67,408,453 (GRCm39)		noncoding transcript	Het
H3c8	G	A	13: 23,719,721 (GRCm39)	V36M	probably damaging	Het
Heatr4	T	A	12: 84,020,495 (GRCm39)	I499L	probably benign	Het
Igfn1	A	T	1: 135,896,705 (GRCm39)	M1287K	probably benign	Het
Inpp5b	C	A	4: 124,677,696 (GRCm39)	D385E	probably damaging	Het
Lrrc9	A	G	12: 72,542,435 (GRCm39)		probably null	Het
Ltb4r1	A	G	14: 56,004,699 (GRCm39)	M1V	probably null	Het
Macf1	T	C	4: 123,365,327 (GRCm39)	I3145V	probably benign	Het
Man2a2	T	C	7: 80,017,450 (GRCm39)	N277S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mgat4e	A	G	1: 134,469,016 (GRCm39)	Y343H	probably benign	Het
Noxred1	T	C	12: 87,268,029 (GRCm39)	*367W	probably null	Het
Nup58	A	T	14: 60,480,076 (GRCm39)	L190*	probably null	Het
Olfml2a	G	T	2: 38,841,275 (GRCm39)	K270N	probably damaging	Het
Or5c1	A	G	2: 37,222,774 (GRCm39)		probably null	Het
Or7g32	A	G	9: 19,389,495 (GRCm39)	L14P	probably damaging	Het
Phgdh	G	T	3: 98,223,725 (GRCm39)	Q359K	probably benign	Het
Plpp5	G	T	8: 26,212,604 (GRCm39)	C200F	possibly damaging	Het
Pole	A	C	5: 110,441,235 (GRCm39)	I230L	probably benign	Het
Prtg	A	T	9: 72,752,193 (GRCm39)	D193V	probably damaging	Het
Ptgs2	G	A	1: 149,979,619 (GRCm39)		probably null	Het
Ptprz1	A	T	6: 23,001,573 (GRCm39)	Q1221L	probably benign	Het
Rufy2	T	C	10: 62,831,151 (GRCm39)	I204T	probably benign	Het
Rybp	A	G	6: 100,209,919 (GRCm39)	S115P	possibly damaging	Het
Samd13	A	G	3: 146,368,481 (GRCm39)	V37A	probably benign	Het
Secisbp2l	T	G	2: 125,617,606 (GRCm39)	K24Q	probably damaging	Het
Sorbs2	A	G	8: 46,222,891 (GRCm39)	Y198C	probably damaging	Het
Svil	T	G	18: 5,117,099 (GRCm39)		probably null	Het
Ttc24	G	T	3: 87,977,366 (GRCm39)	R127S	probably benign	Het
Ttn	C	T	2: 76,588,888 (GRCm39)	V21394M	probably damaging	Het
Tubal3	G	T	13: 3,982,841 (GRCm39)	C207F	probably damaging	Het
Vmn2r16	A	T	5: 109,511,443 (GRCm39)	D550V	probably damaging	Het
Vmn2r2	T	A	3: 64,041,921 (GRCm39)	I265F	possibly damaging	Het
Zfp507	T	C	7: 35,494,858 (GRCm39)	K62E	probably damaging	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
R2131:Cldn1	UTSW	16	26,190,300 (GRCm39)	missense	probably damaging	0.98
R2264:Cldn1	UTSW	16	26,177,949 (GRCm39)	missense	probably damaging	1.00
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'- GCACATGCTGAAAAGCCTTGACC -3'
(R):5'- GAGCTGCTTTAAATCACAGCGCC -3'

Sequencing Primer
(F):5'- TGACCAATTTCGAGGGTAGCC -3'
(R):5'- GTTCAGCGTCTCAGAGAACTC -3'

Posted On

2014-04-24