Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Cldn19'

206997

Institutional Source

Beutler Lab

Gene Symbol

Cldn19

Ensembl Gene

ENSMUSG00000066058

Gene Name

claudin 19

Synonyms

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119112638-119119635 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119112990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 74 (D74G)

Ref Sequence

ENSEMBL: ENSMUSP00000092418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084309] [ENSMUST00000094823]

AlphaFold

Q9ET38

Predicted Effect

probably benign
Transcript: ENSMUST00000084309
AA Change: D74G

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

SMART Domains

Protein: ENSMUSP00000081334
Gene: ENSMUSG00000066058
AA Change: D74G

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	5.8e-45	PFAM
Pfam:Claudin_2	15	184	1.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094823
AA Change: D74G

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

SMART Domains

Protein: ENSMUSP00000092418
Gene: ENSMUSG00000066058
AA Change: D74G

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	6.1e-43	PFAM
Pfam:Claudin_2	15	184	2.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150252

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

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. siRNA knockdown of this gene in mice develops the FHHNC (familial hypomagnesemia with hypercalciuria and nephrocalcinosis) symptoms of chronic renal wasting of magnesium and calcium together with defective renal salt handling. The protein encoded by this gene interacts with another family member, Claudin 16, and their interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. This protein is a constituent of tight junctions in the Schwann cells of peripheral myelinated nerves and the gene deficiency affects the nerve conduction of peripheral myelinated fibers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a peripheral neuropathy associated with significant behavioral abnormalities, a complete lack of tight junctions from myelinated Schwann cells, and abnormal nerve conduction parameters of peripheral myelinated fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	possibly damaging	Het

Other mutations in Cldn19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02560:Cldn19	APN	4	119,112,921 (GRCm39)	nonsense	probably null
R1459:Cldn19	UTSW	4	119,112,810 (GRCm39)	missense	probably damaging	1.00
R1524:Cldn19	UTSW	4	119,114,248 (GRCm39)	critical splice donor site	probably null
R3008:Cldn19	UTSW	4	119,112,987 (GRCm39)	missense	probably damaging	1.00
R3709:Cldn19	UTSW	4	119,114,094 (GRCm39)	missense	possibly damaging	0.70
R3877:Cldn19	UTSW	4	119,114,094 (GRCm39)	missense	possibly damaging	0.70
R4840:Cldn19	UTSW	4	119,112,951 (GRCm39)	missense	probably damaging	1.00
R5238:Cldn19	UTSW	4	119,112,930 (GRCm39)	missense	probably damaging	1.00
R5629:Cldn19	UTSW	4	119,114,116 (GRCm39)	missense	probably damaging	0.98
R7407:Cldn19	UTSW	4	119,112,882 (GRCm39)	missense	probably damaging	0.98
R9591:Cldn19	UTSW	4	119,114,357 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AACTCTCAGACTCCTACCTGGG -3'
(R):5'- TCAGAGCCTAGAGACCTGACTG -3'

Sequencing Primer
(F):5'- AGACTCCTACCTGGGCCATG -3'
(R):5'- TAGAGACCTGACTGGCCTG -3'

Posted On

2014-06-23