Mutagenetix > Incidental Mutation

Incidental Mutation 'R6017:Cldn1'

478671

Institutional Source

Beutler Lab

Gene Symbol

Cldn1

Ensembl Gene

ENSMUSG00000022512

Gene Name

claudin 1

Synonyms

MMRRC Submission

044191-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26175395-26190589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26181969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 80 (T80N)

Ref Sequence

ENSEMBL: ENSMUSP00000023154 (fasta)

Gene Model

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

AlphaFold

O88551

Predicted Effect

probably damaging
Transcript: ENSMUST00000023154
AA Change: T80N

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

SMART Domains

Protein: ENSMUSP00000023154
Gene: ENSMUSG00000022512
AA Change: T80N

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

0.7072

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

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
Adgb	T	C	10: 10,325,780 (GRCm39)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,545,542 (GRCm39)	L5581*	probably null	Het
Arpc2	C	A	1: 74,301,645 (GRCm39)	H193N	probably benign	Het
B3galt5	A	G	16: 96,116,384 (GRCm39)	T6A	probably benign	Het
Bod1l	A	T	5: 41,976,103 (GRCm39)	V1737E	probably benign	Het
Cacfd1	T	G	2: 26,903,440 (GRCm39)		probably benign	Het
Cdc42ep4	A	T	11: 113,620,192 (GRCm39)	D66E	probably benign	Het
Cmtm1	C	A	8: 105,037,583 (GRCm39)		probably benign	Het
Cntnap5c	A	T	17: 58,411,693 (GRCm39)	I526F	probably benign	Het
Copb1	T	C	7: 113,836,032 (GRCm39)	K450E	probably benign	Het
Crebrf	A	C	17: 26,976,823 (GRCm39)	I416L	probably benign	Het
Csmd3	C	A	15: 48,177,408 (GRCm39)	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,588,313 (GRCm39)	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,674,774 (GRCm39)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,183,476 (GRCm39)	C198*	probably null	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Dpys	T	A	15: 39,710,114 (GRCm39)	Q105L	probably null	Het
Dsn1	C	A	2: 156,838,162 (GRCm39)	R334L	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha8	G	T	4: 136,659,054 (GRCm39)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,040,781 (GRCm39)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,243,010 (GRCm39)	H83Q	probably benign	Het
Gm13102	T	C	4: 143,835,807 (GRCm39)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,262,276 (GRCm39)	T82A	probably benign	Het
Gss	C	A	2: 155,429,385 (GRCm39)	A36S	probably benign	Het
Hepacam	A	G	9: 37,292,056 (GRCm39)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm39)	V226F	probably damaging	Het
Hgfac	T	C	5: 35,201,739 (GRCm39)	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,674,466 (GRCm39)	R88H	probably benign	Het
Irx5	T	A	8: 93,084,878 (GRCm39)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,225,082 (GRCm39)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,305,400 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,054,164 (GRCm39)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,391,996 (GRCm39)	C195R	probably damaging	Het
Kif28	T	A	1: 179,527,018 (GRCm39)	I718F	probably benign	Het
Lce1e	T	A	3: 92,615,240 (GRCm39)	K36*	probably null	Het
Map4	T	C	9: 109,863,687 (GRCm39)	L304P	probably benign	Het
Mettl17	C	T	14: 52,129,074 (GRCm39)		probably benign	Het
Mpp4	T	C	1: 59,160,518 (GRCm39)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,732,349 (GRCm39)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,766,137 (GRCm39)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,496,730 (GRCm39)	V299A	probably benign	Het
Or8b3	A	T	9: 38,314,916 (GRCm39)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,093,843 (GRCm39)	L270S	probably benign	Het
Plekhg2	G	A	7: 28,062,309 (GRCm39)	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm39)	V306D	probably benign	Het
Ptk6	C	T	2: 180,837,605 (GRCm39)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,492,461 (GRCm39)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Skor2	T	A	18: 76,946,622 (GRCm39)	C115S	unknown	Het
Slc2a7	T	C	4: 150,249,629 (GRCm39)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,955,683 (GRCm39)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,182,893 (GRCm39)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,632,024 (GRCm39)	T145K	probably damaging	Het
Stab1	C	T	14: 30,863,501 (GRCm39)	R2087H	probably benign	Het
Stk24	C	T	14: 121,539,657 (GRCm39)	V180M	probably benign	Het
Trrap	A	G	5: 144,781,051 (GRCm39)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,647,147 (GRCm39)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,689,711 (GRCm39)		probably null	Het
Uts2b	T	C	16: 27,179,793 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,889 (GRCm39)	H729L	probably damaging	Het
Vps35l	T	A	7: 118,409,144 (GRCm39)	V635D	probably damaging	Het
Wdfy3	T	C	5: 101,999,225 (GRCm39)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,441,763 (GRCm39)	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,592,712 (GRCm39)	D40G	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
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
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
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'- CACTCTTTTGTGAAAAGTAGACAAGGG -3'
(R):5'- AGCAGCCATCCTTGACTCTC -3'

Sequencing Primer
(F):5'- TTTGTGAAAAGTAGACAAGGGAGAAG -3'
(R):5'- TCCTAGCAACCGTCCCAGTG -3'

Posted On

2017-06-26