Mutagenetix > Incidental Mutation

Incidental Mutation 'R0681:Cldn6'

60980

Institutional Source

Beutler Lab

Gene Symbol

Cldn6

Ensembl Gene

ENSMUSG00000023906

Gene Name

claudin 6

Synonyms

MMRRC Submission

038866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0681 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

23898345-23901417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23900167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 44 (Q44K)

Ref Sequence

ENSEMBL: ENSMUSP00000024699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024698] [ENSMUST00000024699] [ENSMUST00000085989] [ENSMUST00000167059]

AlphaFold

Q9Z262

Predicted Effect

probably benign
Transcript: ENSMUST00000024698

SMART Domains

Protein: ENSMUSP00000024698
Gene: ENSMUSG00000023905

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	129	4.7e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000024699
AA Change: Q44K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024699
Gene: ENSMUSG00000023906
AA Change: Q44K

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	2.5e-35	PFAM
Pfam:Claudin_2	15	183	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085989

SMART Domains

Protein: ENSMUSP00000093236
Gene: ENSMUSG00000066720

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	9.7e-35	PFAM
Pfam:Claudin_2	15	183	8.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167059

SMART Domains

Protein: ENSMUSP00000131574
Gene: ENSMUSG00000023905

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	35	2.9e-13	PFAM
Pfam:stn_TNFRSF12A	32	94	1.1e-33	PFAM

Meta Mutation Damage Score

0.5003

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

100% (68/68)

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 protein encoded by this gene is essential for blastocyst formation in preimplantation mouse embryos, and is invloved in and is crucial for the formation and maintenance of the epidermal permeability barrier. This gene is adjacent to another family member Cldn9 on chromosome 17. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele do not exhibit overt abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,676,649 (GRCm39)	D1341Y	probably damaging	Het
Ahdc1	T	C	4: 132,792,827 (GRCm39)	F1356S	possibly damaging	Het
Cdk13	A	G	13: 17,895,882 (GRCm39)		probably benign	Het
Cfhr1	A	T	1: 139,485,249 (GRCm39)	S66T	probably damaging	Het
Cntnap5c	T	C	17: 58,612,550 (GRCm39)	V863A	possibly damaging	Het
Col6a4	T	A	9: 105,944,343 (GRCm39)	K1044*	probably null	Het
Cyb561d1	A	G	3: 108,106,583 (GRCm39)	V212A	probably benign	Het
Cyp1b1	A	G	17: 80,021,275 (GRCm39)	S156P	probably damaging	Het
Dock7	G	A	4: 98,904,941 (GRCm39)	H645Y	probably damaging	Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Fastkd3	C	T	13: 68,740,047 (GRCm39)		probably benign	Het
Galnt10	T	A	11: 57,660,366 (GRCm39)	V268D	probably damaging	Het
Grb14	G	T	2: 64,747,631 (GRCm39)	A10E	probably damaging	Het
Grin2c	A	G	11: 115,140,479 (GRCm39)	V1213A	probably benign	Het
Grip1	C	T	10: 119,846,135 (GRCm39)	T570I	probably damaging	Het
Hif1an	T	C	19: 44,551,762 (GRCm39)	Y71H	probably benign	Het
Hsd17b11	T	A	5: 104,151,072 (GRCm39)	I221L	probably benign	Het
Htra1	A	T	7: 130,581,027 (GRCm39)		probably benign	Het
Igfn1	T	C	1: 135,891,591 (GRCm39)	E2308G	possibly damaging	Het
Mapk9	T	A	11: 49,760,072 (GRCm39)	S129T	probably damaging	Het
Med22	T	C	2: 26,800,391 (GRCm39)	T13A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mtus1	A	T	8: 41,446,554 (GRCm39)	L489Q	probably damaging	Het
Naprt	G	A	15: 75,765,481 (GRCm39)	P120S	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Ogfod2	A	G	5: 124,250,907 (GRCm39)	E62G	probably null	Het
Or13a1	A	T	6: 116,471,361 (GRCm39)	S264C	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Palm	A	C	10: 79,655,327 (GRCm39)	T362P	probably benign	Het
Pcare	T	G	17: 72,056,509 (GRCm39)	H1056P	probably benign	Het
Pcdh8	T	C	14: 80,007,400 (GRCm39)	T388A	probably benign	Het
Pclo	A	G	5: 14,725,332 (GRCm39)	I1397V	unknown	Het
Per1	A	G	11: 68,992,027 (GRCm39)	E127G	probably damaging	Het
Plekha1	T	C	7: 130,502,353 (GRCm39)	V30A	possibly damaging	Het
Pramel24	A	T	4: 143,454,622 (GRCm39)	T307S	probably benign	Het
Rab26	A	G	17: 24,746,940 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,750 (GRCm39)	D999G	possibly damaging	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rrp1b	T	C	17: 32,279,369 (GRCm39)	S677P	probably damaging	Het
Scaf4	G	A	16: 90,046,582 (GRCm39)	P485S	unknown	Het
Scn5a	A	T	9: 119,368,706 (GRCm39)	M273K	probably damaging	Het
Sec22a	C	T	16: 35,181,926 (GRCm39)		probably null	Het
Slc10a6	C	A	5: 103,760,315 (GRCm39)	V227F	possibly damaging	Het
Slc39a3	C	G	10: 80,869,565 (GRCm39)	E31Q	probably benign	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
Tdrd7	T	A	4: 46,016,879 (GRCm39)	M673K	probably benign	Het
Trim8	C	A	19: 46,503,532 (GRCm39)	S361R	possibly damaging	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Vmn1r46	A	T	6: 89,953,946 (GRCm39)	D265V	probably damaging	Het
Zbtb5	T	C	4: 44,993,787 (GRCm39)	I532M	probably damaging	Het

Other mutations in Cldn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cldn6	APN	17	23,900,698 (GRCm39)	unclassified	probably benign
IGL01876:Cldn6	APN	17	23,900,158 (GRCm39)	missense	probably damaging	0.98
IGL02529:Cldn6	APN	17	23,900,291 (GRCm39)	missense	probably damaging	0.98
R0853:Cldn6	UTSW	17	23,900,438 (GRCm39)	missense	probably damaging	0.99
R4133:Cldn6	UTSW	17	23,900,467 (GRCm39)	missense	probably damaging	1.00
R4366:Cldn6	UTSW	17	23,900,494 (GRCm39)	missense	probably benign	0.00
R4454:Cldn6	UTSW	17	23,900,060 (GRCm39)	splice site	probably null
R4780:Cldn6	UTSW	17	23,900,221 (GRCm39)	missense	probably benign	0.30
R7775:Cldn6	UTSW	17	23,900,581 (GRCm39)	missense	probably damaging	1.00
R7778:Cldn6	UTSW	17	23,900,581 (GRCm39)	missense	probably damaging	1.00
R7824:Cldn6	UTSW	17	23,900,581 (GRCm39)	missense	probably damaging	1.00
R7863:Cldn6	UTSW	17	23,900,096 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGACATAGCAGCCAACTGTCAAG -3'
(R):5'- TGATGCCAGAGATGAGCACCAGAC -3'

Sequencing Primer
(F):5'- GATGTCCAGACATGCTGCTC -3'
(R):5'- ATCTTCCACACAGGTAGTGC -3'

Posted On

2013-07-30