Mutagenetix > Incidental Mutation

Incidental Mutation 'R4942:Cldn10'

383225

Institutional Source

Beutler Lab

Gene Symbol

Cldn10

Ensembl Gene

ENSMUSG00000022132

Gene Name

claudin 10

Synonyms

D14Ertd728e, 6720456I16Rik, Cldn10a, Cldn10b

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

R4942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119025283-119111937 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119025725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 53 (G53S)

Ref Sequence

ENSEMBL: ENSMUSP00000041616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047761] [ENSMUST00000071546]

AlphaFold

Q9Z0S6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047761
AA Change: G53S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041616
Gene: ENSMUSG00000022132
AA Change: G53S

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	3	177	9.2e-44	PFAM
Pfam:Claudin_2	13	179	3.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071546
AA Change: G53S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071476
Gene: ENSMUSG00000022132
AA Change: G53S

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	3	167	9e-35	PFAM
Pfam:Claudin_2	13	160	2.4e-10	PFAM

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This intronless gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight unction 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. Six alternatively spliced transcript variants have been identified, which encode different isoforms with distinct electric charge of the first extracellular loop and with or without the fourth transmembrane region. These isoforms exhibit distinct localization and function in paracellular anion or cation permeability. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice lacking expression of this gene in the thick ascending limb of renal tubules display nephrocalcinosis, hypermagnesemia, and abnormalities in renal reabsorbtion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,720,472 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,045,364 (GRCm39)	S23P	probably benign	Het
Adamtsl1	T	A	4: 86,259,451 (GRCm39)	C824*	probably null	Het
Adgre1	A	G	17: 57,713,903 (GRCm39)	Y196C	probably damaging	Het
Arap1	A	G	7: 101,051,009 (GRCm39)	D542G	possibly damaging	Het
B3gat1	A	G	9: 26,666,894 (GRCm39)	D42G	probably benign	Het
Birc6	G	A	17: 74,930,045 (GRCm39)	A2412T	probably damaging	Het
Bnip5	T	C	17: 29,122,232 (GRCm39)	R420G	probably benign	Het
Bsn	A	G	9: 107,983,678 (GRCm39)	Y3459H	unknown	Het
Cacnb1	T	C	11: 97,893,809 (GRCm39)	Y571C	probably damaging	Het
Cdk2ap2	G	A	19: 4,147,508 (GRCm39)		probably null	Het
Cep57	A	G	9: 13,724,723 (GRCm39)	S265P	probably damaging	Het
Clca3a1	A	G	3: 144,710,524 (GRCm39)	I893T	probably benign	Het
Clca3a2	T	A	3: 144,512,263 (GRCm39)	E491V	probably damaging	Het
Cobl	A	T	11: 12,204,185 (GRCm39)	I832N	probably damaging	Het
Col9a2	T	C	4: 120,910,316 (GRCm39)	V487A	possibly damaging	Het
Cse1l	C	T	2: 166,771,714 (GRCm39)	T325I	probably damaging	Het
Dlx6	A	G	6: 6,863,468 (GRCm39)	Q30R	probably benign	Het
Dnah8	T	C	17: 30,948,116 (GRCm39)	V1902A	probably benign	Het
Dusp8	A	G	7: 141,635,965 (GRCm39)	F542L	possibly damaging	Het
Emid1	T	G	11: 5,079,430 (GRCm39)	M323L	probably benign	Het
Ercc5	A	G	1: 44,215,125 (GRCm39)	D886G	probably benign	Het
Fam184b	T	C	5: 45,730,649 (GRCm39)	E461G	probably damaging	Het
Fbn1	C	A	2: 125,225,536 (GRCm39)	C572F	possibly damaging	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Grin3b	A	G	10: 79,811,556 (GRCm39)	H714R	probably damaging	Het
Heatr1	A	G	13: 12,428,391 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lypd6b	C	A	2: 49,836,132 (GRCm39)	H104Q	probably benign	Het
Man1a	A	T	10: 53,809,586 (GRCm39)		probably null	Het
Megf6	A	T	4: 154,338,277 (GRCm39)	D449V	probably damaging	Het
Mtor	T	C	4: 148,556,599 (GRCm39)	V1003A	probably benign	Het
Ncan	C	A	8: 70,552,944 (GRCm39)	W1096L	probably damaging	Het
Ndor1	C	T	2: 25,138,133 (GRCm39)		probably null	Het
Ndufaf1	T	C	2: 119,490,547 (GRCm39)	E171G	possibly damaging	Het
Nell1	T	C	7: 49,770,397 (GRCm39)	V152A	possibly damaging	Het
Nherf4	C	A	9: 44,159,915 (GRCm39)	G402*	probably null	Het
Nt5dc1	A	T	10: 34,198,673 (GRCm39)	V255E	probably damaging	Het
Or2a20	T	A	6: 43,193,928 (GRCm39)	F27Y	probably damaging	Het
Or2y1b	A	T	11: 49,208,375 (GRCm39)	M1L	probably null	Het
Or52h7	A	G	7: 104,214,212 (GRCm39)	I261M	probably benign	Het
Or52z14	G	A	7: 103,253,401 (GRCm39)	R180H	probably benign	Het
Otud7a	T	C	7: 63,407,171 (GRCm39)	I50T	probably damaging	Het
P2ry13	G	A	3: 59,116,983 (GRCm39)	T265I	probably benign	Het
Pde4d	A	G	13: 108,996,733 (GRCm39)	S12G	probably benign	Het
Pigk	C	A	3: 152,450,154 (GRCm39)	N219K	probably damaging	Het
Plcg1	T	A	2: 160,595,509 (GRCm39)		probably null	Het
Psd2	A	T	18: 36,111,717 (GRCm39)	D114V	probably damaging	Het
Ptch1	A	T	13: 63,672,884 (GRCm39)	I770N	probably benign	Het
Ptprq	A	T	10: 107,524,290 (GRCm39)	M481K	probably benign	Het
Rnf216	A	C	5: 143,078,814 (GRCm39)	M45R	probably damaging	Het
Rpsa	T	A	9: 119,960,129 (GRCm39)	W231R	probably benign	Het
Ryr1	G	T	7: 28,768,998 (GRCm39)	T2797N	probably damaging	Het
Ryr3	A	T	2: 112,666,602 (GRCm39)	M1468K	probably damaging	Het
Slc6a7	A	G	18: 61,137,589 (GRCm39)	Y244H	probably damaging	Het
Slco6c1	T	A	1: 97,009,049 (GRCm39)	D462V	probably damaging	Het
Spata31d1b	A	T	13: 59,864,917 (GRCm39)	E688D	possibly damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Tnrc18	A	T	5: 142,773,737 (GRCm39)	I181N	unknown	Het
Tnrc6a	T	C	7: 122,791,836 (GRCm39)	F1785L	probably damaging	Het
Trio	A	T	15: 27,752,811 (GRCm39)	D2174E	probably benign	Het
Ttn	C	T	2: 76,623,600 (GRCm39)	V15326I	probably damaging	Het
Ubap2	T	A	4: 41,245,461 (GRCm39)		probably benign	Het
Vmn2r113	C	T	17: 23,177,321 (GRCm39)	P702S	probably damaging	Het
Vmn2r66	A	T	7: 84,656,980 (GRCm39)	W142R	probably damaging	Het
Vmn2r73	A	G	7: 85,519,582 (GRCm39)	Y459H	probably damaging	Het
Wsb2	C	T	5: 117,515,550 (GRCm39)	T385M	probably damaging	Het

Other mutations in Cldn10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Cldn10	APN	14	119,111,129 (GRCm39)	splice site	probably benign
IGL02064:Cldn10	APN	14	119,092,424 (GRCm39)	missense	probably damaging	1.00
R0090:Cldn10	UTSW	14	119,111,612 (GRCm39)	missense	probably damaging	1.00
R1573:Cldn10	UTSW	14	119,111,080 (GRCm39)	missense	probably benign	0.12
R3712:Cldn10	UTSW	14	119,092,522 (GRCm39)	missense	probably damaging	1.00
R4897:Cldn10	UTSW	14	119,025,725 (GRCm39)	missense	possibly damaging	0.88
R4941:Cldn10	UTSW	14	119,025,725 (GRCm39)	missense	possibly damaging	0.88
R4943:Cldn10	UTSW	14	119,025,725 (GRCm39)	missense	possibly damaging	0.88
R4998:Cldn10	UTSW	14	119,025,725 (GRCm39)	missense	possibly damaging	0.88
R6160:Cldn10	UTSW	14	119,099,255 (GRCm39)	missense	possibly damaging	0.61
R7205:Cldn10	UTSW	14	119,099,255 (GRCm39)	missense	possibly damaging	0.61
R7943:Cldn10	UTSW	14	119,099,271 (GRCm39)	critical splice donor site	probably null
R8519:Cldn10	UTSW	14	119,092,439 (GRCm39)	missense	probably benign	0.01
R8895:Cldn10	UTSW	14	119,092,507 (GRCm39)	missense	probably damaging	1.00
R9048:Cldn10	UTSW	14	119,025,656 (GRCm39)	missense	probably damaging	1.00
R9278:Cldn10	UTSW	14	119,111,647 (GRCm39)	missense	probably damaging	0.96
R9657:Cldn10	UTSW	14	119,025,781 (GRCm39)	missense	probably benign
R9676:Cldn10	UTSW	14	119,025,677 (GRCm39)	missense	probably damaging	1.00
R9706:Cldn10	UTSW	14	119,099,189 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGTCCAGTGTCTGCATGCC -3'
(R):5'- AAATGTGGCGCTTTAGCAC -3'

Sequencing Primer
(F):5'- ACCAAAGCCTTCTGTGTGGAC -3'
(R):5'- CGCTTTAGCACACTCGGAGTG -3'

Posted On

2016-04-27