Mutagenetix > Incidental Mutation

Incidental Mutation 'R1610:Cldn23'

176737

Institutional Source

Beutler Lab

Gene Symbol

Cldn23

Ensembl Gene

ENSMUSG00000055976

Gene Name

claudin 23

Synonyms

2310014B08Rik

MMRRC Submission

039647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R1610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36291866-36293713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36293084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 135 (Y135H)

Ref Sequence

ENSEMBL: ENSMUSP00000049725 (fasta)

Gene Model

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

AlphaFold

Q9D7D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000060128
AA Change: Y135H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049725
Gene: ENSMUSG00000055976
AA Change: Y135H

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

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. 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	G	A	2: 22,980,563 (GRCm39)	C312Y	probably damaging	Het
Adgrl1	T	A	8: 84,659,002 (GRCm39)	M601K	probably benign	Het
Agbl4	G	A	4: 111,514,365 (GRCm39)	E459K	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Casz1	C	T	4: 149,013,544 (GRCm39)	A36V	possibly damaging	Het
Cfap20dc	G	T	14: 8,511,110 (GRCm38)	H435N	probably benign	Het
Chpf	A	G	1: 75,453,292 (GRCm39)	V327A	probably damaging	Het
Cobll1	C	T	2: 64,963,986 (GRCm39)	D211N	probably damaging	Het
Cramp1	A	G	17: 25,202,925 (GRCm39)	V368A	probably benign	Het
Dnah6	T	C	6: 73,121,946 (GRCm39)	T1374A	probably benign	Het
Dpyd	A	G	3: 118,858,655 (GRCm39)	H623R	probably benign	Het
Dyrk2	T	C	10: 118,695,830 (GRCm39)	N476S	probably benign	Het
Endog	A	T	2: 30,063,899 (GRCm39)	I267F	probably damaging	Het
Ephb6	A	T	6: 41,591,307 (GRCm39)	K155*	probably null	Het
Far2	T	C	6: 148,058,956 (GRCm39)	V214A	possibly damaging	Het
Fat2	A	G	11: 55,169,750 (GRCm39)	V3003A	probably damaging	Het
Frg2f1	T	A	4: 119,388,485 (GRCm39)	T5S	possibly damaging	Het
Gm14496	A	T	2: 181,637,972 (GRCm39)	T349S	probably benign	Het
Golgb1	A	G	16: 36,746,463 (GRCm39)	T2951A	probably benign	Het
Hc	G	T	2: 34,896,173 (GRCm39)	D1203E	probably benign	Het
Isg20	C	A	7: 78,564,257 (GRCm39)	Q55K	possibly damaging	Het
Jph4	G	T	14: 55,351,560 (GRCm39)	A152E	probably damaging	Het
Kcnq3	T	C	15: 65,897,109 (GRCm39)	T264A	probably damaging	Het
Kcnq5	T	G	1: 21,527,685 (GRCm39)	T463P	probably damaging	Het
Klra8	A	G	6: 130,095,981 (GRCm39)	S204P	probably damaging	Het
Ldlrad1	A	G	4: 107,072,072 (GRCm39)	D98G	probably damaging	Het
Lhfpl4	T	C	6: 113,171,097 (GRCm39)	T30A	possibly damaging	Het
Lig1	T	A	7: 13,019,266 (GRCm39)	L80Q	probably damaging	Het
Lmbrd2	A	G	15: 9,186,699 (GRCm39)	Y558C	probably benign	Het
Lrrn3	G	T	12: 41,502,992 (GRCm39)	L442I	possibly damaging	Het
Mc2r	A	G	18: 68,540,519 (GRCm39)	F258S	probably damaging	Het
Mmp16	A	G	4: 18,011,582 (GRCm39)	T137A	probably benign	Het
Nfatc2ip	A	T	7: 125,986,579 (GRCm39)	S359T	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nup50l	G	T	6: 96,142,270 (GRCm39)	P258Q	probably damaging	Het
Or10a48	T	A	7: 108,425,131 (GRCm39)	H25L	probably benign	Het
Or4c15b	T	C	2: 89,113,165 (GRCm39)	H104R	probably damaging	Het
Or4s2b	A	T	2: 88,508,918 (GRCm39)	K233*	probably null	Het
Or8b1b	C	T	9: 38,375,927 (GRCm39)	L197F	probably damaging	Het
Pacc1	A	G	1: 191,077,262 (GRCm39)	D195G	probably benign	Het
Plagl1	C	T	10: 13,004,706 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,042,696 (GRCm39)	S1531T	probably damaging	Het
Ptpn22	G	A	3: 103,809,512 (GRCm39)		probably null	Het
Rtn1	T	A	12: 72,266,053 (GRCm39)	Q174L	possibly damaging	Het
Selenoo	A	G	15: 88,984,119 (GRCm39)	E645G	probably benign	Het
Serpina1a	A	C	12: 103,820,096 (GRCm39)	D383E	possibly damaging	Het
Slc6a18	T	A	13: 73,816,344 (GRCm39)	Y345F	probably benign	Het
Smbd1	A	G	16: 32,627,135 (GRCm39)	V51A	possibly damaging	Het
Tchh	C	T	3: 93,352,146 (GRCm39)	R529W	unknown	Het
Tonsl	A	T	15: 76,522,757 (GRCm39)	Y165N	probably damaging	Het
Trdmt1	G	A	2: 13,520,870 (GRCm39)	T344I	probably damaging	Het
Ubash3b	C	A	9: 40,954,796 (GRCm39)	R116L	probably damaging	Het
Vmn2r94	A	G	17: 18,463,995 (GRCm39)	V765A	probably damaging	Het
Zfp474	C	T	18: 52,771,437 (GRCm39)	T30I	probably benign	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
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
R4342:Cldn23	UTSW	8	36,292,652 (GRCm39)	missense	probably benign	0.00
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'- TGGCATCGGGAATCCAACCTTG -3'
(R):5'- AACTACTTCCAGACCCAGCCTGTG -3'

Sequencing Primer
(F):5'- GGAATCCAACCTTGAGCTTGC -3'
(R):5'- ACTCATGATCACGTCACTGG -3'

Posted On

2014-04-24