Mutagenetix > Incidental Mutation

Incidental Mutation 'R8895:Cldn10'

677984

Institutional Source

Beutler Lab

Gene Symbol

Cldn10

Ensembl Gene

ENSMUSG00000022132

Gene Name

claudin 10

Synonyms

D14Ertd728e, 6720456I16Rik, Cldn10a, Cldn10b

MMRRC Submission

068754-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R8895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119025283-119111937 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119092507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 36 (D36N)

Ref Sequence

ENSEMBL: ENSMUSP00000097889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047761] [ENSMUST00000071546] [ENSMUST00000100314]

AlphaFold

Q9Z0S6

Predicted Effect

probably benign
Transcript: ENSMUST00000047761

SMART Domains

Protein: ENSMUSP00000041616
Gene: ENSMUSG00000022132

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

SMART Domains

Protein: ENSMUSP00000071476
Gene: ENSMUSG00000022132

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100314
AA Change: D36N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097889
Gene: ENSMUSG00000022132
AA Change: D36N

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	179	9.6e-51	PFAM

Meta Mutation Damage Score

0.1330

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 69,437,994 (GRCm39)	R100W	possibly damaging	Het
Adamts10	G	A	17: 33,768,270 (GRCm39)	R814H	probably damaging	Het
Akr1a1	A	G	4: 116,498,260 (GRCm39)	L95P	probably damaging	Het
Amigo2	G	T	15: 97,143,389 (GRCm39)	N344K	probably damaging	Het
Ankrd11	T	C	8: 123,621,014 (GRCm39)	D946G	possibly damaging	Het
Arb2a	T	A	13: 78,147,773 (GRCm39)	N280K	probably damaging	Het
Btnl6	T	G	17: 34,734,391 (GRCm39)	I124L	probably benign	Het
Bzw2	A	T	12: 36,173,982 (GRCm39)	C97*	probably null	Het
Celsr2	G	A	3: 108,320,880 (GRCm39)	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,224,911 (GRCm39)	L226Q	possibly damaging	Het
Ces1g	T	C	8: 94,046,512 (GRCm39)	K338E	possibly damaging	Het
Cntnap4	T	A	8: 113,479,598 (GRCm39)	I261N	probably benign	Het
Csnk1g1	T	C	9: 65,915,109 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,869,910 (GRCm39)	D104G	possibly damaging	Het
Cyp3a11	T	C	5: 145,797,330 (GRCm39)	T350A	probably benign	Het
Daw1	T	A	1: 83,187,011 (GRCm39)	C274S	probably damaging	Het
Dmtn	T	C	14: 70,850,144 (GRCm39)	T267A	probably benign	Het
Dock5	A	G	14: 68,055,112 (GRCm39)	Y585H	possibly damaging	Het
Dsg2	T	G	18: 20,723,126 (GRCm39)	V384G	probably damaging	Het
Elmo1	C	T	13: 20,748,630 (GRCm39)	L492F	probably damaging	Het
Fmo1	T	C	1: 162,657,827 (GRCm39)	D438G	probably benign	Het
Folr2	C	T	7: 101,489,408 (GRCm39)	V244M	unknown	Het
Galnt18	T	C	7: 111,378,709 (GRCm39)	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,966,207 (GRCm39)	Y119*	probably null	Het
Gria4	A	G	9: 4,664,951 (GRCm39)	S102P	probably damaging	Het
Hc	A	T	2: 34,890,861 (GRCm39)	N1318K	probably benign	Het
Ifitm1	T	C	7: 140,549,499 (GRCm39)	L94P	probably damaging	Het
Iqca1l	T	C	5: 24,755,628 (GRCm39)	D298G	probably benign	Het
Itga9	G	A	9: 118,510,835 (GRCm39)	V455M	probably damaging	Het
Kank4	C	T	4: 98,653,747 (GRCm39)	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,785,100 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,352,953 (GRCm39)	T885A	possibly damaging	Het
Lamp5	A	G	2: 135,902,874 (GRCm39)	T198A	probably benign	Het
Ldc1	T	C	4: 130,105,223 (GRCm39)	K316E	probably benign	Het
Lipi	A	T	16: 75,352,710 (GRCm39)	L376I	probably benign	Het
Lrrc37	T	A	11: 103,509,656 (GRCm39)	T771S	unknown	Het
Luc7l	T	C	17: 26,472,978 (GRCm39)	I31T	possibly damaging	Het
Malrd1	A	T	2: 15,850,038 (GRCm39)	N1219I	unknown	Het
Mcf2l	C	T	8: 13,034,330 (GRCm39)		probably benign	Het
Mrc1	A	C	2: 14,312,760 (GRCm39)	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,793,271 (GRCm39)	A127T	possibly damaging	Het
Myom2	T	A	8: 15,152,589 (GRCm39)	Y645*	probably null	Het
Naip2	T	C	13: 100,325,644 (GRCm39)	H88R	probably benign	Het
Noc3l	T	A	19: 38,798,751 (GRCm39)	K282N	probably damaging	Het
Nwd2	T	C	5: 63,963,241 (GRCm39)	Y942H	probably damaging	Het
Or10ag2	T	C	2: 87,248,659 (GRCm39)	V87A	probably benign	Het
Or52d1	T	A	7: 103,756,302 (GRCm39)	I272N	probably damaging	Het
Osbpl9	C	A	4: 108,930,333 (GRCm39)	A221S	probably benign	Het
Paip1	T	C	13: 119,566,801 (GRCm39)	L45S	probably benign	Het
Peak1	T	C	9: 56,113,938 (GRCm39)	T1668A	probably benign	Het
Pgap3	A	G	11: 98,281,602 (GRCm39)	F199L	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,544 (GRCm39)	M1061V	probably benign	Het
Ppp6r3	A	T	19: 3,544,017 (GRCm39)	W333R	probably damaging	Het
Ptk2b	T	A	14: 66,412,242 (GRCm39)	N383I	probably benign	Het
Rab21	G	C	10: 115,151,080 (GRCm39)	R58G	probably benign	Het
Rabif	C	T	1: 134,433,935 (GRCm39)	T83I	probably damaging	Het
Rdh7	A	T	10: 127,724,430 (GRCm39)	F18Y	probably benign	Het
Scart2	C	T	7: 139,841,532 (GRCm39)	P279S	possibly damaging	Het
Septin5	A	G	16: 18,441,861 (GRCm39)	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,715,306 (GRCm39)	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,607,293 (GRCm39)	M495L	probably benign	Het
Sntg1	T	A	1: 8,748,074 (GRCm39)		probably null	Het
Spred2	T	A	11: 19,951,019 (GRCm39)	I72N	probably benign	Het
St3gal1	A	T	15: 66,980,086 (GRCm39)	I271N	possibly damaging	Het
Stox1	A	T	10: 62,495,386 (GRCm39)	H962Q	probably benign	Het
Supt6	A	T	11: 78,103,664 (GRCm39)	M1347K	probably damaging	Het
Susd2	G	T	10: 75,475,452 (GRCm39)	A484D	possibly damaging	Het
Tmem260	A	G	14: 48,737,845 (GRCm39)		probably benign	Het
Tpbg	C	A	9: 85,726,520 (GRCm39)	A163E	possibly damaging	Het
Tpx2	T	C	2: 152,724,255 (GRCm39)	Y344H	probably damaging	Het
Ttf2	A	T	3: 100,870,028 (GRCm39)	F348L	probably benign	Het
Ttn	A	T	2: 76,663,650 (GRCm39)	V11675E	unknown	Het
Txnl4b	T	A	8: 110,299,467 (GRCm39)	Y142*	probably null	Het
Vmn2r18	G	A	5: 151,485,140 (GRCm39)	R785C	possibly damaging	Het
Zbtb18	T	A	1: 177,276,044 (GRCm39)	V459E	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
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
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'- TGACAGTACTGTGAGTGCGG -3'
(R):5'- GCAGAGTATAAGACCCAGCC -3'

Sequencing Primer
(F):5'- AGTGCCCTCAAGTGCCCAG -3'
(R):5'- TCCATAAGAGGACGCGCC -3'

Posted On

2021-08-02