Mutagenetix > Incidental Mutation

Incidental Mutation 'R9011:Cldn23'

685638

Institutional Source

Beutler Lab

Gene Symbol

Cldn23

Ensembl Gene

ENSMUSG00000055976

Gene Name

claudin 23

Synonyms

2310014B08Rik

MMRRC Submission

068841-MU

Accession Numbers

Essential gene?

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

Stock #

R9011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36291866-36293713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36292826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 221 (I221F)

Ref Sequence

ENSEMBL: ENSMUSP00000049725 (fasta)

Gene Model

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

AlphaFold

Q9D7D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000060128
AA Change: I221F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049725
Gene: ENSMUSG00000055976
AA Change: I221F

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

0.0669

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 70,999,734 (GRCm39)	T177A	probably benign	Het
Adgrb2	G	A	4: 129,916,111 (GRCm39)	D1468N	probably damaging	Het
Aldh16a1	A	G	7: 44,794,951 (GRCm39)	F506S	probably damaging	Het
Ankfn1	A	T	11: 89,417,444 (GRCm39)	M56K	probably benign	Het
Atxn7l2	T	C	3: 108,114,756 (GRCm39)	S97G	probably benign	Het
Cacna1g	C	T	11: 94,306,663 (GRCm39)	G1905D	probably benign	Het
Ccdc192	A	T	18: 57,800,376 (GRCm39)	I176F	possibly damaging	Het
Ccne1	A	T	7: 37,806,085 (GRCm39)	M13K	probably benign	Het
Chil3	A	T	3: 106,057,031 (GRCm39)	Y304*	probably null	Het
Chst15	A	G	7: 131,872,246 (GRCm39)	F12L	probably benign	Het
Col16a1	T	C	4: 129,946,652 (GRCm39)	F92L	unknown	Het
Col6a3	A	T	1: 90,710,057 (GRCm39)		probably benign	Het
Cyp2w1	T	A	5: 139,340,314 (GRCm39)	V199E	possibly damaging	Het
Dmxl1	A	G	18: 49,997,240 (GRCm39)	Y512C	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Eif3l	T	G	15: 78,973,725 (GRCm39)	M380R	possibly damaging	Het
Fer1l5	A	T	1: 36,441,601 (GRCm39)	K605N	probably damaging	Het
Fgfbp1	T	G	5: 44,136,627 (GRCm39)	N222H	probably benign	Het
Flcn	A	G	11: 59,690,233 (GRCm39)	L273P	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gabpa	A	G	16: 84,638,209 (GRCm39)		probably benign	Het
Garin4	A	C	1: 190,895,258 (GRCm39)	S462A	probably benign	Het
Gfi1	A	G	5: 107,873,425 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,579,777 (GRCm39)	Q316R	probably benign	Het
Itga11	T	C	9: 62,662,909 (GRCm39)	F542L	probably benign	Het
Kif28	G	C	1: 179,529,984 (GRCm39)	L726V	possibly damaging	Het
Krt90	A	G	15: 101,471,235 (GRCm39)	I9T	probably benign	Het
Lefty1	A	T	1: 180,765,241 (GRCm39)	M270L	probably benign	Het
Mipol1	A	T	12: 57,503,865 (GRCm39)	E344D	probably benign	Het
Mon2	A	T	10: 122,862,213 (GRCm39)	M737K	possibly damaging	Het
Mrpl14	A	G	17: 46,009,330 (GRCm39)	N143S	probably benign	Het
Nelfcd	T	A	2: 174,268,717 (GRCm39)	H589Q	probably benign	Het
Npepps	T	C	11: 97,131,757 (GRCm39)	M366V	probably damaging	Het
Or5b12	A	T	19: 12,897,479 (GRCm39)	S65T	probably damaging	Het
Platr25	T	A	13: 62,848,280 (GRCm39)	H194L	probably damaging	Het
Plekhg4	T	C	8: 106,102,284 (GRCm39)	I127T	probably benign	Het
Ralgapa1	A	T	12: 55,652,314 (GRCm39)		probably benign	Het
Rarb	A	G	14: 16,435,140 (GRCm38)	V302A	probably damaging	Het
Rc3h1	A	C	1: 160,792,673 (GRCm39)	T1037P	probably damaging	Het
Rnaset2a	G	A	17: 8,356,760 (GRCm39)	P102S	probably damaging	Het
Scn10a	A	C	9: 119,459,160 (GRCm39)	S1166R	probably damaging	Het
Scn3a	A	G	2: 65,352,170 (GRCm39)	M380T	possibly damaging	Het
Serpinb13	A	G	1: 106,923,519 (GRCm39)	I75V	probably benign	Het
Slc35f5	G	A	1: 125,490,050 (GRCm39)	A27T	probably benign	Het
Slc45a3	G	A	1: 131,905,714 (GRCm39)	V246I	probably benign	Het
Slc7a14	G	A	3: 31,278,345 (GRCm39)	T420I	probably damaging	Het
Slc9a9	A	G	9: 94,818,493 (GRCm39)	T296A	probably benign	Het
Smyd2	G	A	1: 189,628,833 (GRCm39)	H157Y	probably damaging	Het
Spata32	T	A	11: 103,100,677 (GRCm39)	H30L	probably benign	Het
Srarp	T	C	4: 141,160,344 (GRCm39)	E163G	possibly damaging	Het
Tcstv2a	A	G	13: 120,725,746 (GRCm39)	T137A	probably damaging	Het
Tmed8	A	G	12: 87,220,938 (GRCm39)	I216T	probably damaging	Het
Tnni3k	A	T	3: 154,562,186 (GRCm39)	L697Q	probably damaging	Het
Tra2b	G	A	16: 22,065,940 (GRCm39)	R286C	unknown	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Ttn	T	C	2: 76,540,506 (GRCm39)	D34160G	possibly damaging	Het
Umad1	T	A	6: 8,373,931 (GRCm39)	C36*	probably null	Het
Ush2a	A	T	1: 188,638,676 (GRCm39)	T4029S	probably damaging	Het
Usp9y	C	T	Y: 1,316,978 (GRCm39)	S1857N	probably benign	Het
Vwa3b	A	G	1: 37,154,767 (GRCm39)	N517S	probably damaging	Het
Zfp583	G	A	7: 6,319,627 (GRCm39)	P462S	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
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
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'- TCACAGGGCAGCGAATTTTGG -3'
(R):5'- TCTTGTCAGATCCCGACGTC -3'

Sequencing Primer
(F):5'- CAGCGAATTTTGGCAGGGC -3'
(R):5'- AGGTCAGCTACAGCCTGGTG -3'

Posted On

2021-10-11