Mutagenetix > Incidental Mutation

Incidental Mutation 'R1721:Cldn20'

191503

Institutional Source

Beutler Lab

Gene Symbol

Cldn20

Ensembl Gene

ENSMUSG00000091530

Gene Name

claudin 20

Synonyms

EG621628

MMRRC Submission

039753-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3582829-3583484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3583157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 110 (D110V)

Ref Sequence

ENSEMBL: ENSMUSP00000126169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000168560] [ENSMUST00000227405]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041003

SMART Domains

Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983

Domain	Start	End	E-Value	Type
rADc	43	234	5.56e-69	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168560
AA Change: D110V

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

SMART Domains

Protein: ENSMUSP00000126169
Gene: ENSMUSG00000091530
AA Change: D110V

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	8.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232647

Meta Mutation Damage Score

0.1856

Coding Region Coverage

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

Validation Efficiency

99% (87/88)

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 identified in retinal pigment epithelium (RPE) and analysis of the RPE transcriptome reveals that this gene expression appears late during development of chick embryo. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,901,995 (GRCm39)	V559E	probably benign	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Adcy5	C	A	16: 35,118,794 (GRCm39)	D1048E	probably damaging	Het
Agrn	A	T	4: 156,259,630 (GRCm39)	C768*	probably null	Het
Aldh18a1	G	T	19: 40,553,282 (GRCm39)	Q487K	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Asb18	T	G	1: 89,896,302 (GRCm39)	D246A	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Cage1	T	A	13: 38,207,309 (GRCm39)	K285*	probably null	Het
Ccn2	A	C	10: 24,472,695 (GRCm39)	T202P	probably damaging	Het
Cldn17	A	G	16: 88,303,444 (GRCm39)	L95P	probably damaging	Het
Cnot10	T	C	9: 114,444,067 (GRCm39)	T443A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Col23a1	T	C	11: 51,418,716 (GRCm39)	Y135H	unknown	Het
Cse1l	T	C	2: 166,768,331 (GRCm39)	S210P	probably damaging	Het
Cspg4	T	G	9: 56,796,027 (GRCm39)	V1254G	probably damaging	Het
Dip2c	A	G	13: 9,709,404 (GRCm39)	T1415A	probably damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Epha2	A	G	4: 141,049,963 (GRCm39)	S799G	probably damaging	Het
Fndc10	A	G	4: 155,779,355 (GRCm39)	Y133C	probably damaging	Het
Gli3	G	T	13: 15,900,882 (GRCm39)	S1423I	probably benign	Het
Gm6034	A	T	17: 36,354,045 (GRCm39)		probably benign	Het
Gmip	A	G	8: 70,263,882 (GRCm39)	S109G	probably damaging	Het
Grik2	C	A	10: 49,399,842 (GRCm39)	W296L	possibly damaging	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Il6	T	A	5: 30,218,490 (GRCm39)	Y46N	possibly damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Itga9	A	G	9: 118,527,374 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,056,345 (GRCm39)	V187A	possibly damaging	Het
Kdm5b	G	T	1: 134,540,919 (GRCm39)		probably benign	Het
Knl1	T	G	2: 118,906,815 (GRCm39)	S1635A	probably damaging	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lox	T	G	18: 52,653,983 (GRCm39)		probably null	Het
Mdc1	A	G	17: 36,158,718 (GRCm39)	D366G	possibly damaging	Het
Meiob	T	C	17: 25,053,021 (GRCm39)	C344R	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mon2	A	T	10: 122,867,002 (GRCm39)	M551K	probably damaging	Het
Mrps15	A	G	4: 125,945,187 (GRCm39)	T125A	probably benign	Het
Mtmr14	A	G	6: 113,230,693 (GRCm39)	H99R	probably damaging	Het
Mup4	A	G	4: 59,960,598 (GRCm39)	M1T	probably null	Het
Mup5	G	A	4: 61,750,607 (GRCm39)	R179*	probably null	Het
Ncoa3	T	G	2: 165,911,221 (GRCm39)	V1326G	possibly damaging	Het
Noa1	A	T	5: 77,455,428 (GRCm39)	N429K	probably benign	Het
Nrxn1	C	T	17: 90,469,832 (GRCm39)	A241T	probably damaging	Het
Or1p1	A	T	11: 74,180,126 (GRCm39)	Y218F	probably damaging	Het
Or2t49	C	T	11: 58,392,765 (GRCm39)	V206M	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Peg3	C	A	7: 6,712,900 (GRCm39)	S774I	possibly damaging	Het
Phyh	A	G	2: 4,942,620 (GRCm39)	K321R	probably null	Het
Plcg1	T	A	2: 160,573,840 (GRCm39)	M35K	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppargc1b	T	A	18: 61,440,275 (GRCm39)		probably null	Het
Prcd	A	C	11: 116,548,371 (GRCm39)	S27R	probably benign	Het
Prx	T	A	7: 27,216,948 (GRCm39)	M622K	probably benign	Het
Psmd1	T	A	1: 85,999,567 (GRCm39)	D51E	probably damaging	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Ptprf	A	C	4: 118,082,096 (GRCm39)	D1047E	possibly damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Rnft1	T	A	11: 86,377,096 (GRCm39)	N53K	probably benign	Het
Scn4a	C	T	11: 106,211,646 (GRCm39)	R1457H	probably benign	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Shbg	T	C	11: 69,505,798 (GRCm39)	H403R	probably damaging	Het
Slc15a5	A	T	6: 138,049,845 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a16	T	A	7: 44,910,600 (GRCm39)	V375E	possibly damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Slmap	A	G	14: 26,181,373 (GRCm39)		probably benign	Het
Sorcs2	G	A	5: 36,184,092 (GRCm39)	R965W	probably damaging	Het
St8sia4	C	A	1: 95,581,394 (GRCm39)	R116L	probably damaging	Het
Tcaf1	A	C	6: 42,652,272 (GRCm39)	S737A	possibly damaging	Het
Thbs2	T	A	17: 14,899,072 (GRCm39)	Y676F	probably benign	Het
Tmod2	A	G	9: 75,493,324 (GRCm39)		probably benign	Het
Trim75	T	C	8: 65,435,391 (GRCm39)		probably null	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp54	A	T	14: 20,633,508 (GRCm39)	Y37*	probably null	Het
Vill	T	C	9: 118,895,082 (GRCm39)	F100S	probably damaging	Het
Vstm5	A	G	9: 15,168,663 (GRCm39)	R76G	probably benign	Het
Zfp608	T	C	18: 55,032,321 (GRCm39)	T540A	probably benign	Het
Zfp947	A	C	17: 22,365,184 (GRCm39)	N163K	probably benign	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	possibly damaging	Het

Other mutations in Cldn20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Cldn20	APN	17	3,583,375 (GRCm39)	missense	probably benign	0.16
IGL03175:Cldn20	APN	17	3,583,409 (GRCm39)	missense	probably benign	0.02
R1130:Cldn20	UTSW	17	3,583,243 (GRCm39)	missense	probably damaging	1.00
R3972:Cldn20	UTSW	17	3,582,914 (GRCm39)	missense	probably benign	0.26
R4388:Cldn20	UTSW	17	3,583,485 (GRCm39)	missense	probably benign
R6467:Cldn20	UTSW	17	3,582,992 (GRCm39)	missense	possibly damaging	0.75
R7384:Cldn20	UTSW	17	3,582,886 (GRCm39)	missense	probably damaging	1.00
R7578:Cldn20	UTSW	17	3,583,274 (GRCm39)	missense	probably damaging	0.99
R7661:Cldn20	UTSW	17	3,583,133 (GRCm39)	missense	possibly damaging	0.93
R7727:Cldn20	UTSW	17	3,583,030 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTGCCAAACTGGAAGGTTAATGC -3'
(R):5'- GGGCTCCTCCAGGTTCATATTTGTG -3'

Sequencing Primer
(F):5'- GGACCCAACATTGTAACTGCTG -3'
(R):5'- CCAGGTTCATATTTGTGGCTTTC -3'

Posted On

2014-05-14