Mutagenetix > Incidental Mutation

Incidental Mutation 'R4897:Cldn10'

375840

Institutional Source

Beutler Lab

Gene Symbol

Cldn10

Ensembl Gene

ENSMUSG00000022132

Gene Name

claudin 10

Synonyms

D14Ertd728e, 6720456I16Rik, Cldn10a, Cldn10b

MMRRC Submission

042501-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R4897 (G1)

Quality Score

225

Status

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,266,309 (GRCm39)	M120I	probably damaging	Het
4933427D14Rik	A	T	11: 72,082,342 (GRCm39)	L328Q	probably damaging	Het
Adgrv1	A	C	13: 81,709,704 (GRCm39)		probably null	Het
Ankrd46	A	T	15: 36,484,279 (GRCm39)		probably benign	Het
Arhgef18	A	T	8: 3,494,979 (GRCm39)	M413L	probably benign	Het
Atp6v1e1	G	A	6: 120,781,044 (GRCm39)	T87M	probably null	Het
Bap1	T	C	14: 30,980,402 (GRCm39)		probably benign	Het
Brf1	A	G	12: 112,929,507 (GRCm39)	L385P	probably benign	Het
C1qtnf1	A	T	11: 118,338,938 (GRCm39)	N203Y	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccnjl	A	C	11: 43,470,718 (GRCm39)	D162A	probably damaging	Het
Cd248	A	C	19: 5,119,195 (GRCm39)	I348L	probably benign	Het
Cdc20	T	C	4: 118,293,029 (GRCm39)	T265A	probably benign	Het
Cdca5	T	A	19: 6,140,427 (GRCm39)	L196*	probably null	Het
Cdk4	T	A	10: 126,900,444 (GRCm39)		probably benign	Het
Clec4b2	G	T	6: 123,177,999 (GRCm39)	E105*	probably null	Het
Dapk1	T	A	13: 60,909,600 (GRCm39)	D1404E	probably benign	Het
Dnah1	T	C	14: 30,989,496 (GRCm39)	Y3308C	probably damaging	Het
Dnah17	A	C	11: 117,969,419 (GRCm39)	Y2260D	probably damaging	Het
Dock8	T	G	19: 25,159,001 (GRCm39)	S1720A	probably benign	Het
Erc1	A	G	6: 119,754,947 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,848,597 (GRCm39)	I66V	probably benign	Het
Fam186a	T	C	15: 99,843,158 (GRCm39)	T1029A	possibly damaging	Het
Fat4	A	T	3: 39,034,781 (GRCm39)	Y2811F	probably damaging	Het
Flt3	A	G	5: 147,306,110 (GRCm39)	M310T	probably damaging	Het
Ganab	T	A	19: 8,892,355 (GRCm39)	C844S	probably benign	Het
Gas2l2	C	A	11: 83,320,041 (GRCm39)	V72F	probably damaging	Het
Gm14401	T	A	2: 176,778,573 (GRCm39)	C220S	probably damaging	Het
Hmmr	A	T	11: 40,619,261 (GRCm39)	V73E	probably benign	Het
Idi2l	T	G	13: 8,990,637 (GRCm39)		probably benign	Het
Ifih1	G	T	2: 62,465,358 (GRCm39)		probably benign	Het
Jak3	A	G	8: 72,138,048 (GRCm39)	E833G	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Ldb1	G	A	19: 46,023,132 (GRCm39)	A217V	probably benign	Het
Lrrc8c	A	G	5: 105,755,955 (GRCm39)	T577A	probably benign	Het
Mfn1	T	A	3: 32,600,711 (GRCm39)		probably benign	Het
Mki67	G	A	7: 135,298,474 (GRCm39)	P2187S	probably damaging	Het
Mrc1	T	A	2: 14,323,952 (GRCm39)	D1096E	probably benign	Het
Msi1	A	G	5: 115,573,654 (GRCm39)		probably benign	Het
Msto1	T	A	3: 88,819,559 (GRCm39)	I152F	probably benign	Het
Myo9a	A	G	9: 59,803,800 (GRCm39)	R2060G	probably benign	Het
Nnt	A	T	13: 119,541,107 (GRCm39)	C44*	probably null	Het
Nup210l	A	G	3: 90,100,378 (GRCm39)	D1468G	probably damaging	Het
Or1j16	T	C	2: 36,530,906 (GRCm39)	L285P	probably damaging	Het
Or4c10b	A	G	2: 89,711,476 (GRCm39)	E102G	probably benign	Het
Or5d46	C	A	2: 88,174,686 (GRCm39)	C129F	possibly damaging	Het
Or7a40	T	C	16: 16,491,482 (GRCm39)	D121G	probably damaging	Het
P2rx3	G	A	2: 84,855,270 (GRCm39)	T62I	probably damaging	Het
Pabpc4l	G	T	3: 46,401,578 (GRCm39)	T22K	probably damaging	Het
Pcdha7	A	G	18: 37,108,646 (GRCm39)	D557G	probably damaging	Het
Pcdhb20	A	G	18: 37,639,298 (GRCm39)	K608R	possibly damaging	Het
Pcnx1	A	G	12: 81,964,939 (GRCm39)	S369G	probably damaging	Het
Plod1	T	C	4: 148,004,736 (GRCm39)	I455V	probably benign	Het
Prune2	A	T	19: 17,099,219 (GRCm39)	E1574D	probably benign	Het
Ptar1	T	A	19: 23,680,472 (GRCm39)	L96H	probably damaging	Het
Rabgap1	T	C	2: 37,450,583 (GRCm39)	S904P	probably benign	Het
Rps6ka4	C	T	19: 6,815,467 (GRCm39)	V176I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Runx1t1	T	A	4: 13,771,459 (GRCm39)	M1K	probably null	Het
Serinc4	T	A	2: 121,282,905 (GRCm39)	Y419F	probably damaging	Het
Serpina12	A	T	12: 104,004,056 (GRCm39)	M192K	possibly damaging	Het
Spata21	T	A	4: 140,832,261 (GRCm39)	M474K	probably damaging	Het
Stpg1	T	C	4: 135,246,676 (GRCm39)	S135P	possibly damaging	Het
Tdrkh	A	G	3: 94,336,671 (GRCm39)	D481G	probably damaging	Het
Ube2e1	A	C	14: 18,285,268 (GRCm38)	S68R	probably damaging	Het
Vcpip1	A	C	1: 9,817,572 (GRCm39)	N270K	probably damaging	Het
Vmn2r79	T	C	7: 86,650,675 (GRCm39)	F154L	probably benign	Het
Vwa3b	A	G	1: 37,153,684 (GRCm39)		probably benign	Het
Xdh	C	A	17: 74,207,703 (GRCm39)	V885L	probably benign	Het
Zfp141	A	T	7: 42,125,629 (GRCm39)	V281D	probably benign	Het
Zfp317	T	A	9: 19,558,143 (GRCm39)	I119N	probably benign	Het
Zfp345	G	A	2: 150,314,608 (GRCm39)	R310C	probably benign	Het
Zfp760	G	A	17: 21,942,229 (GRCm39)	C468Y	probably benign	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
R4941:Cldn10	UTSW	14	119,025,725 (GRCm39)	missense	possibly damaging	0.88
R4942: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'- TCCAGTGTCTGCATGCCTAG -3'
(R):5'- AAAATGTGGCGCTTTAGCAC -3'

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

Posted On

2016-03-17