Mutagenetix > Incidental Mutation

Incidental Mutation 'R9616:Cldn18'

724593

Institutional Source

Beutler Lab

Gene Symbol

Cldn18

Ensembl Gene

ENSMUSG00000032473

Gene Name

claudin 18

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9616 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99572849-99599320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99580915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 111 (D111G)

Ref Sequence

ENSEMBL: ENSMUSP00000035048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035048] [ENSMUST00000112882] [ENSMUST00000131922] [ENSMUST00000136429]

AlphaFold

P56857

Predicted Effect

probably benign
Transcript: ENSMUST00000035048
AA Change: D111G

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035048
Gene: ENSMUSG00000032473
AA Change: D111G

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	195	1e-28	PFAM
Pfam:Claudin_2	15	197	3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112882
AA Change: D111G

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108503
Gene: ENSMUSG00000032473
AA Change: D111G

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	195	4.2e-30	PFAM
Pfam:Claudin_2	15	197	4e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131922
AA Change: D111G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117382
Gene: ENSMUSG00000032473
AA Change: D111G

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	195	1.9e-30	PFAM
Pfam:Claudin_2	15	197	1.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136429
AA Change: D111G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115782
Gene: ENSMUSG00000032473
AA Change: D111G

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	195	4e-29	PFAM
Pfam:Claudin_2	6	197	1e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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. This gene is a downstream target gene regulated by the T/EBP/NKX2.1 homeodomain transcription factor. Four alternatively spliced transcript variants resulted from alternative promoters and alternative splicing have been identified, which encode two lung-specific isoforms and two stomach-specific isoforms respectively. This gene is also expressed in colons, inner ear and skin, and its expression is increased in both experimental colitis and ulcerative colitis. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased bone resorption and osteoclast differentiation. Homozygotes for another knock-out allele have impiared alveolarization and alveolar epithelial barrier function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040M04Rik	T	A	1: 151,080,480 (GRCm39)	D189E	probably benign	Het
Abca13	A	T	11: 9,240,501 (GRCm39)	H788L	probably benign	Het
Abcb1b	A	G	5: 8,862,779 (GRCm39)	I154V	probably benign	Het
Acsm4	A	G	7: 119,293,872 (GRCm39)	N81S	probably benign	Het
Adamts5	G	A	16: 85,659,674 (GRCm39)	H873Y	probably benign	Het
Aox4	C	T	1: 58,268,020 (GRCm39)	T200I	possibly damaging	Het
Arhgap33	A	G	7: 30,229,367 (GRCm39)	V336A	probably damaging	Het
Brca1	C	T	11: 101,416,683 (GRCm39)	E484K	probably damaging	Het
Capn13	T	A	17: 73,672,964 (GRCm39)	D113V	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,892,078 (GRCm39)	E274K		Het
Cfh	A	T	1: 140,030,254 (GRCm39)	I891K	probably damaging	Het
Cgn	A	G	3: 94,670,332 (GRCm39)	S1041P	probably damaging	Het
Cnp	G	A	11: 100,467,261 (GRCm39)	R68Q	probably benign	Het
Cntn4	T	A	6: 106,674,525 (GRCm39)	C1008*	probably null	Het
Cntnap5a	T	C	1: 116,029,323 (GRCm39)	I259T	probably benign	Het
Cubn	A	G	2: 13,319,529 (GRCm39)	I2897T	probably benign	Het
Cyp2c39	T	A	19: 39,501,648 (GRCm39)	L67Q	probably damaging	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddc	C	T	11: 11,772,288 (GRCm39)	W349*	probably null	Het
Dennd3	A	G	15: 73,440,563 (GRCm39)	E1198G	probably benign	Het
Dnah1	T	C	14: 31,026,400 (GRCm39)	D826G	probably null	Het
Dpp4	T	C	2: 62,217,429 (GRCm39)	Y56C	probably damaging	Het
Etv6	A	G	6: 134,243,295 (GRCm39)	D350G	possibly damaging	Het
Fat1	C	A	8: 45,406,075 (GRCm39)	P942Q	probably damaging	Het
Fbxl5	A	G	5: 43,916,159 (GRCm39)	F418L	probably benign	Het
Fbxo11	T	A	17: 88,316,098 (GRCm39)	H368L		Het
Fhl2	G	T	1: 43,167,546 (GRCm39)	H182Q	probably damaging	Het
Gabpa	T	A	16: 84,649,461 (GRCm39)	C223S	probably damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Greb1	A	T	12: 16,790,038 (GRCm39)	N3K	probably damaging	Het
Hmcn1	T	G	1: 150,684,473 (GRCm39)	S366R	probably benign	Het
Il17b	A	G	18: 61,825,363 (GRCm39)	Q133R	probably benign	Het
Inha	T	A	1: 75,486,211 (GRCm39)	S169T	probably benign	Het
Itsn1	G	A	16: 91,650,055 (GRCm39)	R243H	probably benign	Het
Kcnu1	G	GA	8: 26,403,675 (GRCm39)		probably null	Het
Kdm1b	A	G	13: 47,234,030 (GRCm39)	E788G	probably damaging	Het
Kdm2a	A	T	19: 4,370,308 (GRCm39)	I1059N	probably damaging	Het
Klk1b9	G	T	7: 43,628,795 (GRCm39)	G100C	probably benign	Het
Knl1	T	C	2: 118,899,994 (GRCm39)	V565A	probably benign	Het
Knl1	A	T	2: 118,907,425 (GRCm39)	N1650Y	probably damaging	Het
Lpp	T	C	16: 24,580,719 (GRCm39)	V270A	probably benign	Het
Lrrc15	A	G	16: 30,092,517 (GRCm39)	L274P	probably damaging	Het
Mertk	C	T	2: 128,643,255 (GRCm39)	L885F	probably benign	Het
Mpst	T	A	15: 78,294,361 (GRCm39)	L31*	probably null	Het
Ms4a10	T	C	19: 10,944,440 (GRCm39)	T115A	possibly damaging	Het
Myof	A	G	19: 37,923,263 (GRCm39)	I1330T	possibly damaging	Het
Ncam2	T	C	16: 81,240,142 (GRCm39)	I201T	probably damaging	Het
Nefh	T	A	11: 4,889,443 (GRCm39)	K1059*	probably null	Het
Nek1	T	C	8: 61,473,107 (GRCm39)	Y168H	probably damaging	Het
Nek11	T	A	9: 105,082,011 (GRCm39)	T531S	probably damaging	Het
Nelfa	G	A	5: 34,059,127 (GRCm39)	P243S	possibly damaging	Het
Niban1	T	C	1: 151,512,193 (GRCm39)	Y32H	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Or13c7d	T	A	4: 43,770,193 (GRCm39)	K273*	probably null	Het
Or52b2	A	C	7: 104,986,520 (GRCm39)	Y134*	probably null	Het
Or9i16	A	G	19: 13,864,861 (GRCm39)	S238P	probably damaging	Het
Otof	A	G	5: 30,539,708 (GRCm39)	I1035T	possibly damaging	Het
Otud3	A	G	4: 138,624,925 (GRCm39)	Y259H	probably benign	Het
Per1	G	T	11: 68,993,554 (GRCm39)	C368F	probably damaging	Het
Pitrm1	G	T	13: 6,605,602 (GRCm39)	R183L	probably damaging	Het
Prl3a1	C	T	13: 27,459,118 (GRCm39)	A119V		Het
Pycard	C	T	7: 127,592,776 (GRCm39)	G17E	probably benign	Het
Rnf13	A	G	3: 57,740,430 (GRCm39)	D249G	possibly damaging	Het
Sdhaf2	T	C	19: 10,494,689 (GRCm39)	Y33C	probably damaging	Het
Sdk2	A	G	11: 113,691,061 (GRCm39)	V1838A	probably benign	Het
Sgo2b	C	T	8: 64,380,274 (GRCm39)	V853I	probably benign	Het
Slc1a4	T	C	11: 20,282,403 (GRCm39)	T24A	probably benign	Het
Slc8a1	T	C	17: 81,955,407 (GRCm39)	T544A	probably benign	Het
Sntg2	T	C	12: 30,326,732 (GRCm39)	N143S	probably benign	Het
Sphkap	T	C	1: 83,254,989 (GRCm39)	E920G	probably damaging	Het
Srgap2	T	A	1: 131,252,828 (GRCm39)	H132L		Het
Srgap3	A	T	6: 112,748,524 (GRCm39)	V376D	probably damaging	Het
Stxbp5l	T	C	16: 37,036,314 (GRCm39)	K434E	probably damaging	Het
Tab2	A	T	10: 7,795,005 (GRCm39)	N492K	possibly damaging	Het
Tbc1d32	T	C	10: 56,037,246 (GRCm39)	Q666R	possibly damaging	Het
Tekt4	T	C	17: 25,692,782 (GRCm39)		probably null	Het
Tnni3k	G	A	3: 154,667,724 (GRCm39)	Q230*	probably null	Het
Trp53bp1	A	C	2: 121,066,657 (GRCm39)	S690A	probably benign	Het
Trpa1	C	A	1: 14,989,077 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,858,132 (GRCm39)	V324G	probably damaging	Het
Usp29	A	G	7: 6,966,179 (GRCm39)	E674G	possibly damaging	Het
Vmn2r59	T	C	7: 41,661,299 (GRCm39)	R839G	probably damaging	Het
Vmn2r6	A	G	3: 64,445,724 (GRCm39)	L667P	probably damaging	Het
Vmn2r91	T	A	17: 18,356,305 (GRCm39)	F657L	possibly damaging	Het
Vps13d	A	G	4: 144,824,701 (GRCm39)	V2923A		Het
Xylb	T	A	9: 119,201,022 (GRCm39)	L220Q	probably damaging	Het
Zbtb10	C	T	3: 9,316,473 (GRCm39)	T95M	probably benign	Het
Zfp263	C	T	16: 3,567,482 (GRCm39)	P599L	probably damaging	Het
Zfp532	A	G	18: 65,789,639 (GRCm39)	E1026G	probably benign	Het
Zfp78	A	G	7: 6,382,078 (GRCm39)	N376S	probably benign	Het

Other mutations in Cldn18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Cldn18	APN	9	99,580,874 (GRCm39)	missense	probably benign	0.29
IGL01317:Cldn18	APN	9	99,578,135 (GRCm39)	missense	probably benign
IGL01804:Cldn18	APN	9	99,580,901 (GRCm39)	nonsense	probably null
IGL02112:Cldn18	APN	9	99,580,128 (GRCm39)	missense	probably benign	0.11
IGL02471:Cldn18	APN	9	99,578,128 (GRCm39)	missense	probably benign	0.04
IGL02619:Cldn18	APN	9	99,580,988 (GRCm39)	missense	probably damaging	0.97
R0313:Cldn18	UTSW	9	99,580,967 (GRCm39)	missense	probably benign	0.00
R5384:Cldn18	UTSW	9	99,591,911 (GRCm39)	missense	possibly damaging	0.93
R6337:Cldn18	UTSW	9	99,591,995 (GRCm39)	missense	probably benign	0.09
R6419:Cldn18	UTSW	9	99,574,801 (GRCm39)	missense	possibly damaging	0.65
R8943:Cldn18	UTSW	9	99,578,162 (GRCm39)	missense	probably benign	0.01
R9521:Cldn18	UTSW	9	99,581,028 (GRCm39)	critical splice acceptor site	probably null
Z1176:Cldn18	UTSW	9	99,580,900 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TCTCGAATCCCAGTGTGAAAC -3'
(R):5'- ATGGTCTTGACGTCCTCAAAGG -3'

Sequencing Primer
(F):5'- GTGAAACACCTTGAGCTCTGTTCAG -3'
(R):5'- GCTGAGTTTTTGCCGACATAAAACC -3'

Posted On

2022-09-12