Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Cldn9'

189458

Institutional Source

Beutler Lab

Gene Symbol

Cldn9

Ensembl Gene

ENSMUSG00000066720

Gene Name

claudin 9

Synonyms

nmf329

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23682584-23684018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23683076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 192 (R192S)

Ref Sequence

ENSEMBL: ENSMUSP00000093236 (fasta)

Gene Model

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

AlphaFold

Q9Z0S7

Predicted Effect

probably benign
Transcript: ENSMUST00000024699

SMART Domains

Protein: ENSMUSP00000024699
Gene: ENSMUSG00000023906

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
AA Change: R192S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093236
Gene: ENSMUSG00000066720
AA Change: R192S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This intronless 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 developmentally regulated; it is expressed in neonate kidney, but disappers by adulthood. It is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit severe and early hearing loss associated with degeneration of outer hair cells and increased perilymph potassium ion concentration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888 (GRCm38)	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918 (GRCm38)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,537 (GRCm38)	V268D	probably benign	Het
Armc9	A	G	1: 86,156,955 (GRCm38)	M1V	probably null	Het
BB287469	A	G	12: 87,819,718 (GRCm38)	D133G	unknown	Het
Brca1	C	T	11: 101,489,840 (GRCm38)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759 (GRCm38)	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615 (GRCm38)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118 (GRCm38)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659 (GRCm38)		probably null	Het
Cep85	T	C	4: 134,148,013 (GRCm38)	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640 (GRCm38)	D207G	probably damaging	Het
Crybb3	A	G	5: 113,079,767 (GRCm38)	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669 (GRCm38)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm38)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407 (GRCm38)		probably benign	Het
Dnah3	A	T	7: 120,045,786 (GRCm38)		probably null	Het
Eml6	G	A	11: 29,833,187 (GRCm38)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366 (GRCm38)	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308 (GRCm38)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,227,106 (GRCm38)	V154I	probably benign	Het
Frem2	A	T	3: 53,653,952 (GRCm38)	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201 (GRCm38)		probably benign	Het
Gja3	T	A	14: 57,036,876 (GRCm38)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,695,902 (GRCm38)	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783 (GRCm38)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 82,038,042 (GRCm38)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,173,928 (GRCm38)	I119L	probably benign	Het
Hadh	T	C	3: 131,245,249 (GRCm38)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853 (GRCm38)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824 (GRCm38)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663 (GRCm38)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872 (GRCm38)	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654 (GRCm38)	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066 (GRCm38)	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124 (GRCm38)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478 (GRCm38)	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771 (GRCm38)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585 (GRCm38)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423 (GRCm38)	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875 (GRCm38)		probably null	Het
Nrap	C	T	19: 56,355,529 (GRCm38)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597 (GRCm38)	F387I	probably damaging	Het
Olfr743	T	C	14: 50,533,702 (GRCm38)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306 (GRCm38)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015 (GRCm38)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019 (GRCm38)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704 (GRCm38)		probably benign	Het
Pkp2	T	C	16: 16,268,709 (GRCm38)		probably null	Het
Ppard	A	G	17: 28,297,180 (GRCm38)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533 (GRCm38)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,270,279 (GRCm38)	T287A	probably damaging	Het
Sema4b	T	C	7: 80,219,262 (GRCm38)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,982,157 (GRCm38)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070 (GRCm38)		probably null	Het
Spag5	T	C	11: 78,304,929 (GRCm38)	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699 (GRCm38)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250 (GRCm38)	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634 (GRCm38)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473 (GRCm38)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626 (GRCm38)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,188,657 (GRCm38)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907 (GRCm38)		probably benign	Het
Usp28	T	A	9: 49,024,017 (GRCm38)	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791 (GRCm38)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818 (GRCm38)	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712 (GRCm38)	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199 (GRCm38)	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244 (GRCm38)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242 (GRCm38)	D49G	probably benign	Het

Other mutations in Cldn9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4195:Cldn9	UTSW	17	23,683,174 (GRCm38)	missense	probably damaging	1.00
R5710:Cldn9	UTSW	17	23,683,447 (GRCm38)	missense	probably damaging	1.00
R6676:Cldn9	UTSW	17	23,683,049 (GRCm38)	missense	probably benign	0.00
R7007:Cldn9	UTSW	17	23,683,078 (GRCm38)	missense	probably benign
R7336:Cldn9	UTSW	17	23,683,015 (GRCm38)	missense	probably benign	0.27
R9456:Cldn9	UTSW	17	23,683,582 (GRCm38)	missense	probably damaging	0.99
Z1177:Cldn9	UTSW	17	23,683,201 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGATCCCCTAAGAGCCAAGTCC -3'
(R):5'- AACAGCATCGTTGTGGCCCAAG -3'

Sequencing Primer
(F):5'- CCAATAAGTGAGCTTCGCAG -3'
(R):5'- AAGTATACGACTCACTGCTGG -3'

Posted On

2014-05-14