Mutagenetix > Incidental Mutation

Incidental Mutation 'R7661:Cldn20'

591592

Institutional Source

Beutler Lab

Gene Symbol

Cldn20

Ensembl Gene

ENSMUSG00000091530

Gene Name

claudin 20

Synonyms

EG621628

MMRRC Submission

045736-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7661 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3582829-3583484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3583133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 102 (M102K)

Ref Sequence

ENSEMBL: ENSMUSP00000126169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000168560] [ENSMUST00000227405]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041003

SMART Domains

Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983

Domain	Start	End	E-Value	Type
rADc	43	234	5.56e-69	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168560
AA Change: M102K

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126169
Gene: ENSMUSG00000091530
AA Change: M102K

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	8.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227405

Meta Mutation Damage Score

0.5412

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (50/52)

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. The protein encoded by this gene is identified in retinal pigment epithelium (RPE) and analysis of the RPE transcriptome reveals that this gene expression appears late during development of chick embryo. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	A	T	12: 107,455,215 (GRCm39)	K100N	unknown	Het
Abi3bp	T	A	16: 56,453,263 (GRCm39)		probably null	Het
Akr1c20	T	C	13: 4,558,218 (GRCm39)	D210G	probably benign	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Ascc1	A	C	10: 59,885,629 (GRCm39)	N227H	probably damaging	Het
Atp5f1a	G	T	18: 77,861,802 (GRCm39)	A18S	possibly damaging	Het
Bcl2l13	A	G	6: 120,842,558 (GRCm39)	T84A	possibly damaging	Het
Blmh	T	A	11: 76,877,341 (GRCm39)	V419D	probably damaging	Het
Cacna1d	G	A	14: 29,769,177 (GRCm39)	P1918S	probably benign	Het
Calr4	T	C	4: 109,110,951 (GRCm39)	V339A	probably benign	Het
Capza3	C	A	6: 139,987,498 (GRCm39)	D32E	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Dennd1a	T	C	2: 37,734,841 (GRCm39)	Q479R	probably benign	Het
Dpp10	A	T	1: 123,312,681 (GRCm39)	I432N	probably damaging	Het
Dst	T	A	1: 34,295,434 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,617,503 (GRCm39)	D741E	probably benign	Het
Fam135a	C	T	1: 24,111,843 (GRCm39)		probably null	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Focad	G	A	4: 88,221,772 (GRCm39)	R714H	unknown	Het
Hace1	T	G	10: 45,481,649 (GRCm39)	V124G	probably damaging	Het
Ifit1bl2	T	A	19: 34,596,428 (GRCm39)	Y396F	probably damaging	Het
Il22ra2	A	G	10: 19,497,826 (GRCm39)	I13M	probably benign	Het
Kif21a	A	G	15: 90,865,122 (GRCm39)	F517L	possibly damaging	Het
Lrrc4	T	C	6: 28,829,762 (GRCm39)	T618A	probably benign	Het
Mdn1	A	G	4: 32,691,229 (GRCm39)	T952A	probably benign	Het
Mindy3	A	T	2: 12,402,328 (GRCm39)	I208K	probably damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	A	G	14: 103,450,059 (GRCm39)	I1744T	probably damaging	Het
Nanog	A	T	6: 122,690,431 (GRCm39)	R279W	probably damaging	Het
Ncoa2	T	A	1: 13,244,761 (GRCm39)	T646S	probably damaging	Het
Ndufa5	A	G	6: 24,518,724 (GRCm39)	*117R	probably null	Het
Nudt18	A	T	14: 70,817,276 (GRCm39)	E293D	probably benign	Het
Or1e22	A	G	11: 73,377,426 (GRCm39)	S75P	probably damaging	Het
Or51aa2	A	T	7: 103,187,826 (GRCm39)	V205E	probably damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Pih1d2	T	C	9: 50,529,558 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 124,442,696 (GRCm38)	F17L		Het
Ptprk	T	C	10: 28,342,036 (GRCm39)	I481T	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Raet1d	T	C	10: 22,248,156 (GRCm39)	S225P	possibly damaging	Het
Rnf24	T	C	2: 131,164,135 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,687 (GRCm39)	S687G	probably damaging	Het
Rsph9	A	G	17: 46,446,013 (GRCm39)	S186P	probably damaging	Het
Sash1	C	T	10: 8,605,155 (GRCm39)	M1078I	probably benign	Het
Scd4	C	A	19: 44,327,510 (GRCm39)	D195E	probably benign	Het
Spopfm3	C	T	3: 94,105,709 (GRCm39)	T9I	probably damaging	Het
Syn3	A	G	10: 85,904,940 (GRCm39)	C348R	probably damaging	Het
Uspl1	T	C	5: 149,151,827 (GRCm39)	F1009S	probably benign	Het
Vmn1r2	T	A	4: 3,172,149 (GRCm39)	F23I	probably benign	Het
Vmn1r257	A	G	7: 22,391,229 (GRCm39)	S172P	probably benign	Het
Vmn2r-ps158	T	A	7: 42,672,582 (GRCm39)	N72K	probably benign	Het
Zfp747l1	A	T	7: 126,984,135 (GRCm39)	C322*	probably null	Het
Zfp839	C	T	12: 110,835,226 (GRCm39)	T827I	probably benign	Het

Other mutations in Cldn20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Cldn20	APN	17	3,583,375 (GRCm39)	missense	probably benign	0.16
IGL03175:Cldn20	APN	17	3,583,409 (GRCm39)	missense	probably benign	0.02
R1130:Cldn20	UTSW	17	3,583,243 (GRCm39)	missense	probably damaging	1.00
R1721:Cldn20	UTSW	17	3,583,157 (GRCm39)	missense	probably damaging	1.00
R3972:Cldn20	UTSW	17	3,582,914 (GRCm39)	missense	probably benign	0.26
R4388:Cldn20	UTSW	17	3,583,485 (GRCm39)	missense	probably benign
R6467:Cldn20	UTSW	17	3,582,992 (GRCm39)	missense	possibly damaging	0.75
R7384:Cldn20	UTSW	17	3,582,886 (GRCm39)	missense	probably damaging	1.00
R7578:Cldn20	UTSW	17	3,583,274 (GRCm39)	missense	probably damaging	0.99
R7727:Cldn20	UTSW	17	3,583,030 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACTGCTGTTGTCCAGGTGC -3'
(R):5'- GTAGTAGCATCGCCGAAATAAACC -3'

Sequencing Primer
(F):5'- TCCAGGTGCAGGGGTTG -3'
(R):5'- AATGTACAGGGCTCCTCCAG -3'

Posted On

2019-11-12