Mutagenetix > Incidental Mutation

Incidental Mutation 'R4342:Cldn23'

324178

Institutional Source

Beutler Lab

Gene Symbol

Cldn23

Ensembl Gene

ENSMUSG00000055976

Gene Name

claudin 23

Synonyms

2310014B08Rik

MMRRC Submission

041100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R4342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36291866-36293713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36292652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 279 (S279P)

Ref Sequence

ENSEMBL: ENSMUSP00000049725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060128]

AlphaFold

Q9D7D7

Predicted Effect

probably benign
Transcript: ENSMUST00000060128
AA Change: S279P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000049725
Gene: ENSMUSG00000055976
AA Change: S279P

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	3	177	6e-19	PFAM
low complexity region	273	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210370

Meta Mutation Damage Score

0.0690

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (68/69)

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. This gene is intronless and the protein encoded by this gene is 77% identical to the human homolog. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,827,421 (GRCm39)	C488R	probably benign	Het
Adamts19	A	T	18: 59,075,572 (GRCm39)	H489L	probably damaging	Het
Ahnak	T	C	19: 8,989,447 (GRCm39)	V3577A	possibly damaging	Het
Ajm1	A	G	2: 25,469,120 (GRCm39)	Y264H	possibly damaging	Het
Arhgap44	G	A	11: 64,902,887 (GRCm39)	R401*	probably null	Het
Cbx3-ps2	T	C	13: 65,707,502 (GRCm39)		noncoding transcript	Het
Ccdc174	T	A	6: 91,862,337 (GRCm39)	L86*	probably null	Het
Cd38	A	C	5: 44,026,431 (GRCm39)	I72L	probably benign	Het
Cers4	T	C	8: 4,571,223 (GRCm39)	L264P	probably damaging	Het
Cth	T	A	3: 157,630,613 (GRCm39)	T19S	probably damaging	Het
Dnajc22	T	A	15: 99,002,345 (GRCm39)	L330*	probably null	Het
Epas1	G	A	17: 87,131,228 (GRCm39)	C336Y	probably damaging	Het
Evi5l	A	C	8: 4,233,492 (GRCm39)		probably benign	Het
Fbxl2	A	T	9: 113,814,374 (GRCm39)	H272Q	probably benign	Het
Fgd3	C	T	13: 49,427,185 (GRCm39)		probably null	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fscn1	T	C	5: 142,957,776 (GRCm39)	Y308H	probably damaging	Het
Garin3	A	G	11: 46,298,043 (GRCm39)	D449G	possibly damaging	Het
Gm5878	G	A	6: 85,102,633 (GRCm39)	R31*	probably null	Het
Gpatch2l	T	C	12: 86,307,453 (GRCm39)	V277A	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grin2a	A	G	16: 9,471,453 (GRCm39)	I605T	possibly damaging	Het
Hoxc11	C	T	15: 102,863,106 (GRCm39)	S49F	probably damaging	Het
Igf2r	C	T	17: 12,928,398 (GRCm39)	E982K	possibly damaging	Het
Ighv10-3	A	T	12: 114,487,124 (GRCm39)	M99K	possibly damaging	Het
Itgb4	A	T	11: 115,879,555 (GRCm39)	T614S	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Mast4	A	G	13: 102,910,756 (GRCm39)	V461A	probably damaging	Het
Mcts2	G	A	2: 152,529,584 (GRCm39)	V132M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Nbeal2	A	G	9: 110,460,861 (GRCm39)		probably benign	Het
Nek4	T	C	14: 30,675,863 (GRCm39)	V66A	probably damaging	Het
Nfasc	A	G	1: 132,559,443 (GRCm39)	F229S	probably damaging	Het
Nhsl1	T	C	10: 18,402,437 (GRCm39)	F1221S	probably damaging	Het
Nr1d1	T	G	11: 98,662,640 (GRCm39)	K118Q	probably damaging	Het
Ntaq1	T	C	15: 58,016,110 (GRCm39)	S120P	probably benign	Het
Ntm	T	C	9: 29,020,727 (GRCm39)	E164G	probably damaging	Het
Or51a7	A	G	7: 102,615,231 (GRCm39)	N308S	probably benign	Het
Parp1	G	T	1: 180,414,894 (GRCm39)	A411S	probably benign	Het
Pds5b	A	G	5: 150,724,319 (GRCm39)	T1301A	probably benign	Het
Pkhd1	A	G	1: 20,128,841 (GRCm39)	V3954A	probably benign	Het
Pkp4	A	T	2: 59,180,952 (GRCm39)	K739I	probably damaging	Het
Pla2g4e	T	C	2: 120,016,927 (GRCm39)		probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Ralgds	T	C	2: 28,442,107 (GRCm39)	L96P	probably damaging	Het
Rbm6	A	T	9: 107,724,446 (GRCm39)		probably benign	Het
Scp2d1	T	C	2: 144,666,087 (GRCm39)	L142P	probably damaging	Het
Setd5	AT	ATT	6: 113,088,281 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,270,949 (GRCm39)	C143Y	probably damaging	Het
Slc22a12	A	G	19: 6,591,129 (GRCm39)	I156T	probably benign	Het
Stambpl1	A	G	19: 34,211,446 (GRCm39)	Q169R	probably benign	Het
Tex2	T	C	11: 106,457,832 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,850,575 (GRCm39)	I878N	probably damaging	Het
Ttf1	C	T	2: 28,955,488 (GRCm39)	S284L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b5	A	T	5: 87,287,582 (GRCm39)	V195E	probably damaging	Het
Vmn1r14	T	A	6: 57,210,808 (GRCm39)	Y85N	probably benign	Het
Zfp131	C	T	13: 120,237,554 (GRCm39)	R268H	probably damaging	Het

Other mutations in Cldn23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Cldn23	APN	8	36,293,074 (GRCm39)	missense	possibly damaging	0.81
IGL01767:Cldn23	APN	8	36,292,816 (GRCm39)	missense	probably damaging	1.00
IGL02078:Cldn23	APN	8	36,293,359 (GRCm39)	missense	possibly damaging	0.94
IGL03346:Cldn23	APN	8	36,292,594 (GRCm39)	intron	probably benign
R1610:Cldn23	UTSW	8	36,293,084 (GRCm39)	missense	probably damaging	1.00
R1753:Cldn23	UTSW	8	36,293,140 (GRCm39)	missense	possibly damaging	0.94
R1915:Cldn23	UTSW	8	36,293,099 (GRCm39)	missense	possibly damaging	0.69
R2121:Cldn23	UTSW	8	36,293,389 (GRCm39)	missense	probably benign
R5167:Cldn23	UTSW	8	36,293,474 (GRCm39)	missense	possibly damaging	0.89
R5207:Cldn23	UTSW	8	36,293,182 (GRCm39)	missense	probably damaging	1.00
R6102:Cldn23	UTSW	8	36,292,705 (GRCm39)	missense	probably benign	0.00
R7106:Cldn23	UTSW	8	36,293,069 (GRCm39)	missense	probably benign
R7363:Cldn23	UTSW	8	36,292,659 (GRCm39)	critical splice donor site	probably null
R7721:Cldn23	UTSW	8	36,293,417 (GRCm39)	missense	possibly damaging	0.89
R8119:Cldn23	UTSW	8	36,293,056 (GRCm39)	missense	probably damaging	0.99
R9011:Cldn23	UTSW	8	36,292,826 (GRCm39)	missense	probably damaging	1.00
R9504:Cldn23	UTSW	8	36,293,470 (GRCm39)	missense	probably damaging	1.00
Z1176:Cldn23	UTSW	8	36,293,431 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGTCCCTCTGGAGAGAAAAG -3'
(R):5'- AGTACTACAGCGACGGACAG -3'

Sequencing Primer
(F):5'- CCCAACCTAGTATTTGGAGAGG -3'
(R):5'- TACAGCGACGGACAGCATCG -3'

Posted On

2015-06-24