Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:Cldn18'

518011

Institutional Source

Beutler Lab

Gene Symbol

Cldn18

Ensembl Gene

ENSMUSG00000032473

Gene Name

claudin 18

Synonyms

MMRRC Submission

044561-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99572849-99599320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99574801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 257 (H257R)

Ref Sequence

ENSEMBL: ENSMUSP00000108503 (fasta)

Gene Model

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

AlphaFold

P56857

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035048
AA Change: H257R

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035048
Gene: ENSMUSG00000032473
AA Change: H257R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112882
AA Change: H257R

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108503
Gene: ENSMUSG00000032473
AA Change: H257R

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

SMART Domains

Protein: ENSMUSP00000117382
Gene: ENSMUSG00000032473

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

SMART Domains

Protein: ENSMUSP00000115782
Gene: ENSMUSG00000032473

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473 (GRCm39)		probably benign	Het
Abcc2	T	A	19: 43,825,947 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,215,759 (GRCm39)	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,231,556 (GRCm39)	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,144,953 (GRCm39)	E34G	probably damaging	Het
Asah1	A	T	8: 41,796,803 (GRCm39)	I293N	probably damaging	Het
Atosa	G	A	9: 74,916,619 (GRCm39)	S413N	probably benign	Het
B3galt2	A	T	1: 143,522,839 (GRCm39)	E325V	possibly damaging	Het
Baz1b	T	A	5: 135,271,348 (GRCm39)	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,826,834 (GRCm39)	N204K	probably damaging	Het
Cd36	C	T	5: 18,002,150 (GRCm39)	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,483 (GRCm39)	L316S	probably damaging	Het
Cenpv	T	C	11: 62,416,008 (GRCm39)	K247R	probably benign	Het
Cnot8	T	A	11: 58,004,891 (GRCm39)	Y197N	probably damaging	Het
Cog3	A	T	14: 75,962,178 (GRCm39)	C554*	probably null	Het
Col4a4	A	G	1: 82,444,207 (GRCm39)		probably null	Het
Cops5	G	A	1: 10,103,532 (GRCm39)	T158I	probably damaging	Het
Dhh	A	G	15: 98,792,282 (GRCm39)	F242S	probably damaging	Het
Dot1l	T	C	10: 80,627,315 (GRCm39)	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,781,907 (GRCm39)	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,711,398 (GRCm39)	D326N	probably damaging	Het
Enpp3	A	T	10: 24,684,089 (GRCm39)	Y52N	probably damaging	Het
Gabra2	A	G	5: 71,119,426 (GRCm39)	S359P	probably benign	Het
Gbp7	G	A	3: 142,252,214 (GRCm39)	G599E	probably benign	Het
Gcat	T	G	15: 78,920,264 (GRCm39)	I198S	probably damaging	Het
Gm8439	A	G	4: 120,466,755 (GRCm39)	K82R	unknown	Het
Grin2b	A	G	6: 135,717,965 (GRCm39)	F709S	probably damaging	Het
Grm3	T	C	5: 9,620,201 (GRCm39)	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,954,075 (GRCm39)		probably benign	Het
Hmgxb3	G	T	18: 61,285,296 (GRCm39)	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Impg1	A	G	9: 80,287,300 (GRCm39)	V305A	probably benign	Het
Ints7	T	A	1: 191,334,414 (GRCm39)	S313T	possibly damaging	Het
Knl1	T	A	2: 118,899,484 (GRCm39)	I395K	probably benign	Het
Lactb2	A	T	1: 13,708,459 (GRCm39)	Y196*	probably null	Het
Lad1	T	C	1: 135,759,630 (GRCm39)	S509P	possibly damaging	Het
Ltf	T	C	9: 110,860,090 (GRCm39)	F504L	possibly damaging	Het
Med4	A	T	14: 73,751,363 (GRCm39)	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,301,073 (GRCm39)	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,068,668 (GRCm39)	T54A	probably benign	Het
Notch2	G	T	3: 98,007,705 (GRCm39)		probably null	Het
Ntng1	A	T	3: 109,690,169 (GRCm39)	N424K	possibly damaging	Het
Ntrk2	G	A	13: 59,009,113 (GRCm39)	W301*	probably null	Het
Or5b116	T	A	19: 13,423,131 (GRCm39)	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766 (GRCm39)	S113P	possibly damaging	Het
Pcdhb20	A	G	18: 37,638,608 (GRCm39)	N378S	probably damaging	Het
Polr3b	T	C	10: 84,473,975 (GRCm39)	S185P	possibly damaging	Het
Ptprn	G	A	1: 75,240,681 (GRCm39)	R31C	probably benign	Het
Rgsl1	C	T	1: 153,698,117 (GRCm39)	V478M	probably damaging	Het
Sema6b	A	T	17: 56,439,784 (GRCm39)	L19*	probably null	Het
Slfn8	A	G	11: 82,894,881 (GRCm39)		probably null	Het
Spen	A	T	4: 141,203,621 (GRCm39)	S1669T	unknown	Het
Syne2	T	C	12: 76,143,740 (GRCm39)	F1522L	probably damaging	Het
Tarbp1	C	T	8: 127,185,783 (GRCm39)	A470T	possibly damaging	Het
Tent4a	A	C	13: 69,658,785 (GRCm39)	M350R	possibly damaging	Het
Tiam1	C	A	16: 89,694,912 (GRCm39)	E182*	probably null	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trip12	C	T	1: 84,771,591 (GRCm39)	A186T	probably damaging	Het
Ufc1	C	T	1: 171,116,529 (GRCm39)	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,567,777 (GRCm39)	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,323,085 (GRCm39)	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,460,767 (GRCm39)	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,282,795 (GRCm39)	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,196,457 (GRCm39)	V28A	probably benign	Het
Wdr19	A	G	5: 65,373,236 (GRCm39)	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,595,634 (GRCm39)	G33R	probably damaging	Het
Zfp330	T	G	8: 83,491,545 (GRCm39)	K209N	probably benign	Het
Zfp493	A	G	13: 67,934,526 (GRCm39)	T160A	probably benign	Het
Zfp974	A	T	7: 27,610,940 (GRCm39)	C262S	possibly damaging	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
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
R9616:Cldn18	UTSW	9	99,580,915 (GRCm39)	missense	probably benign	0.15
Z1176:Cldn18	UTSW	9	99,580,900 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ATTTAGAGGCAGACACATGTGG -3'
(R):5'- CCTACTAATCGCACAGGTGTTC -3'

Sequencing Primer
(F):5'- CACATGTGGCCAAGACTGTCTAG -3'
(R):5'- CTAATCGCACAGGTGTTCATGGAC -3'

Posted On

2018-05-24