Mutagenetix > Incidental Mutation

Incidental Mutation 'R6383:Cldn15'

515431

Institutional Source

Beutler Lab

Gene Symbol

Cldn15

Ensembl Gene

ENSMUSG00000001739

Gene Name

claudin 15

Synonyms

2210009B08Rik

MMRRC Submission

044532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6383 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136996723-137004699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136996979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 7 (T7A)

Ref Sequence

ENSEMBL: ENSMUSP00000106722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001790] [ENSMUST00000019198] [ENSMUST00000111093] [ENSMUST00000111094] [ENSMUST00000111097]

AlphaFold

Q9Z0S5

Predicted Effect

probably benign
Transcript: ENSMUST00000001790
AA Change: T7A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000001790
Gene: ENSMUSG00000001739
AA Change: T7A

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	2	179	6.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019198

SMART Domains

Protein: ENSMUSP00000019198
Gene: ENSMUSG00000019054

Domain	Start	End	E-Value	Type
Pfam:Fis1_TPR_N	33	65	2.3e-18	PFAM
Pfam:Fis1_TPR_C	71	123	2.1e-27	PFAM
low complexity region	124	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111093
AA Change: T7A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106722
Gene: ENSMUSG00000001739
AA Change: T7A

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	2	179	6.5e-36	PFAM
Pfam:Claudin_2	12	181	2.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111094

SMART Domains

Protein: ENSMUSP00000106723
Gene: ENSMUSG00000019054

Domain	Start	End	E-Value	Type
Pfam:Fis1_TPR_N	25	59	3.1e-20	PFAM
Pfam:Fis1_TPR_C	64	116	6.1e-28	PFAM
low complexity region	117	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111097

SMART Domains

Protein: ENSMUSP00000106726
Gene: ENSMUSG00000019054

Domain	Start	End	E-Value	Type
Pfam:Fis1_TPR_C	21	73	1.4e-28	PFAM
low complexity region	74	97	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152658

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (73/75)

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 protein increases permeability for sodium ions in anion-selective epithelial cell sheets. The gene deficiency leads to megaintestine and decreases in intestinal epithelial paracellular ion permeability. This gene is a direct target for hepatocyte-nuclear-factor-4alpha, a mediator of ion epithelial transport, and is down-modulated in inflammatory bowel disease. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and grow normally with an enlarged upper small intestinal phenotype (megaintestine) resulting from enhanced proliferation of normal cryptic cells after weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,286,343 (GRCm39)	M2497K	probably benign	Het
Abtb2	C	T	2: 103,397,721 (GRCm39)	T217I	probably damaging	Het
Adam29	T	A	8: 56,324,543 (GRCm39)	N637I	probably damaging	Het
Adgb	T	A	10: 10,325,772 (GRCm39)	E59V	probably damaging	Het
Adh7	C	T	3: 137,933,778 (GRCm39)	R312C	probably benign	Het
Adprh	A	G	16: 38,267,814 (GRCm39)	I157T	probably damaging	Het
Ap2b1	T	C	11: 83,237,651 (GRCm39)	S572P	probably damaging	Het
Asic1	T	C	15: 99,596,761 (GRCm39)	L519P	probably damaging	Het
Atp2a2	G	C	5: 122,639,712 (GRCm39)	L13V	probably benign	Het
Bst2	A	T	8: 71,989,932 (GRCm39)	I47N	possibly damaging	Het
Cacng6	G	A	7: 3,473,509 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,957,289 (GRCm39)	E1849G	probably damaging	Het
Cep295	T	A	9: 15,244,050 (GRCm39)	T213S	probably damaging	Het
Chia1	A	G	3: 106,039,127 (GRCm39)	T406A	probably benign	Het
Chmp4c	G	T	3: 10,432,277 (GRCm39)	K62N	probably damaging	Het
Cmpk2	T	A	12: 26,528,019 (GRCm39)	M412K	probably benign	Het
Cnnm1	T	C	19: 43,453,705 (GRCm39)		probably null	Het
Cubn	A	C	2: 13,432,646 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,579,136 (GRCm39)	V1668A	possibly damaging	Het
Erg28	T	A	12: 85,863,203 (GRCm39)	Y77F	probably damaging	Het
F830045P16Rik	C	T	2: 129,378,358 (GRCm39)	A9T	probably benign	Het
Gli3	A	G	13: 15,898,140 (GRCm39)	D740G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Gpr179	A	G	11: 97,227,973 (GRCm39)	V1394A	possibly damaging	Het
Grn	T	A	11: 102,327,621 (GRCm39)		probably benign	Het
H2-Q6	G	A	17: 35,647,359 (GRCm39)		probably null	Het
Igsf3	A	G	3: 101,342,964 (GRCm39)	T514A	probably benign	Het
Il1r1	A	G	1: 40,352,495 (GRCm39)	D558G	possibly damaging	Het
Irx4	T	C	13: 73,415,832 (GRCm39)	M207T	possibly damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kdm2b	G	A	5: 123,072,841 (GRCm39)	R340C	probably damaging	Het
Lipo3	T	A	19: 33,533,831 (GRCm39)	M334L	probably benign	Het
Lmbrd1	C	T	1: 24,745,115 (GRCm39)	L152F	probably damaging	Het
Ltbp1	G	A	17: 75,666,452 (GRCm39)	V1382I	probably damaging	Het
Map3k4	C	T	17: 12,468,470 (GRCm39)	D1008N	possibly damaging	Het
Mcf2l	T	C	8: 12,929,912 (GRCm39)		probably benign	Het
Mecom	T	G	3: 30,051,875 (GRCm39)	D180A	probably damaging	Het
Meis1	T	C	11: 18,891,741 (GRCm39)	D269G	probably benign	Het
Myh7	A	C	14: 55,226,351 (GRCm39)	S430A	probably benign	Het
Myo1h	A	G	5: 114,474,325 (GRCm39)	I439V	probably damaging	Het
Nat1	T	C	8: 67,944,134 (GRCm39)	V170A	possibly damaging	Het
Nlrp12	A	G	7: 3,282,673 (GRCm39)	L742P	probably damaging	Het
Nlrp4c	A	G	7: 6,069,052 (GRCm39)	T318A	probably benign	Het
Or4d10	T	A	19: 12,051,727 (GRCm39)	I90F	probably damaging	Het
Or4k47	T	A	2: 111,451,531 (GRCm39)	N296I	probably benign	Het
Or51ai2	A	G	7: 103,587,030 (GRCm39)	I148V	probably benign	Het
Or8g33	G	T	9: 39,337,530 (GRCm39)	T279N	probably damaging	Het
Or8g35	A	T	9: 39,381,926 (GRCm39)	L32Q	probably damaging	Het
Otop3	A	G	11: 115,235,898 (GRCm39)	E529G	probably damaging	Het
Parp6	T	C	9: 59,531,222 (GRCm39)	Y35H	probably damaging	Het
Pcdhb4	A	C	18: 37,441,074 (GRCm39)	D128A	probably damaging	Het
Phldb2	C	T	16: 45,569,113 (GRCm39)	D1249N	probably damaging	Het
Pramel30	A	T	4: 144,059,717 (GRCm39)	*476L	probably null	Het
Ptpn12	T	A	5: 21,192,466 (GRCm39)	K765*	probably null	Het
Ptprb	T	A	10: 116,182,912 (GRCm39)	Y1529*	probably null	Het
Ptprc	A	T	1: 138,006,189 (GRCm39)	Y798N	possibly damaging	Het
Sdk2	G	A	11: 113,723,091 (GRCm39)	T1300I	probably damaging	Het
Slc28a2b	T	C	2: 122,355,288 (GRCm39)	I555T	probably benign	Het
Sptbn2	G	A	19: 4,782,524 (GRCm39)	V487I	possibly damaging	Het
Sptbn5	A	G	2: 119,876,750 (GRCm39)		probably benign	Het
Srpk1	A	G	17: 28,809,036 (GRCm39)	S648P	probably damaging	Het
Stard9	T	C	2: 120,496,888 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Top3a	A	T	11: 60,640,285 (GRCm39)	I446N	probably benign	Het
Trpv1	T	C	11: 73,136,862 (GRCm39)	S482P	probably damaging	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn2r15	A	C	5: 109,441,092 (GRCm39)	Y255*	probably null	Het
Vmn2r60	A	G	7: 41,765,895 (GRCm39)	M1V	probably null	Het
Vmn2r87	A	G	10: 130,314,869 (GRCm39)	V239A	probably damaging	Het
Vwce	T	A	19: 10,636,956 (GRCm39)	C679*	probably null	Het
Zfp385b	C	T	2: 77,246,185 (GRCm39)	A281T	probably benign	Het
Zfp398	T	G	6: 47,843,529 (GRCm39)	L395W	probably damaging	Het
Zfp442	C	T	2: 150,293,321 (GRCm39)		probably null	Het
Zfp606	A	G	7: 12,226,871 (GRCm39)	S331G	probably benign	Het
Zfp882	A	G	8: 72,668,484 (GRCm39)	H437R	probably damaging	Het

Other mutations in Cldn15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02706:Cldn15	APN	5	137,003,685 (GRCm39)	missense	probably benign	0.00
R0395:Cldn15	UTSW	5	136,997,052 (GRCm39)	missense	possibly damaging	0.91
R2112:Cldn15	UTSW	5	136,997,016 (GRCm39)	missense	possibly damaging	0.93
R4647:Cldn15	UTSW	5	137,003,337 (GRCm39)	missense	probably damaging	1.00
R6576:Cldn15	UTSW	5	137,003,470 (GRCm39)	missense	probably damaging	1.00
R6596:Cldn15	UTSW	5	137,003,533 (GRCm39)	nonsense	probably null
R7285:Cldn15	UTSW	5	137,001,327 (GRCm39)	missense	probably benign	0.01
R7721:Cldn15	UTSW	5	136,997,015 (GRCm39)	missense	probably benign	0.21
R7956:Cldn15	UTSW	5	137,003,504 (GRCm39)	missense	probably damaging	1.00
R8516:Cldn15	UTSW	5	137,003,550 (GRCm39)	missense	probably damaging	0.99
R8796:Cldn15	UTSW	5	137,003,351 (GRCm39)	missense	probably damaging	1.00
R9356:Cldn15	UTSW	5	136,996,968 (GRCm39)	missense	probably benign	0.08
R9407:Cldn15	UTSW	5	137,003,765 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCCTCTGACCTGCCAGGAAG -3'
(R):5'- ACGGAAAGTCCCAGCAGTTG -3'

Sequencing Primer
(F):5'- TGACCTCCAGAAGACGGCAG -3'
(R):5'- AGCAGTTGGAGACTCCCAG -3'

Posted On

2018-05-04