Mutagenetix > Incidental Mutation

Incidental Mutation 'R5987:Cldn7'

481749

Institutional Source

Beutler Lab

Gene Symbol

Cldn7

Ensembl Gene

ENSMUSG00000018569

Gene Name

claudin 7

Synonyms

MMRRC Submission

044167-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R5987 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69855605-69858711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69858494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 196 (R196Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018713] [ENSMUST00000060651] [ENSMUST00000108594] [ENSMUST00000108595] [ENSMUST00000108596] [ENSMUST00000108597] [ENSMUST00000142788] [ENSMUST00000151515]

AlphaFold

Q9Z261

Predicted Effect

probably benign
Transcript: ENSMUST00000018713
AA Change: R196Q

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

SMART Domains

Protein: ENSMUSP00000018713
Gene: ENSMUSG00000018569
AA Change: R196Q

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	2.3e-53	PFAM
Pfam:Claudin_2	15	184	1.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060651

SMART Domains

Protein: ENSMUSP00000090725
Gene: ENSMUSG00000018569

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	83	3.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108594

SMART Domains

Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565

Domain	Start	End	E-Value	Type
Pfam:Elong_Iki1	1	201	1.1e-12	PFAM
Pfam:Elong_Iki1	205	282	3.8e-10	PFAM
low complexity region	283	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108595

SMART Domains

Protein: ENSMUSP00000104236
Gene: ENSMUSG00000018565

Domain	Start	End	E-Value	Type
Pfam:Elong_Iki1	1	139	9.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108596
AA Change: R113Q

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

SMART Domains

Protein: ENSMUSP00000104237
Gene: ENSMUSG00000018569
AA Change: R113Q

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	99	1.1e-29	PFAM
Pfam:Claudin_2	1	101	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108597
AA Change: R196Q

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

SMART Domains

Protein: ENSMUSP00000104238
Gene: ENSMUSG00000018569
AA Change: R196Q

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	2.5e-53	PFAM
Pfam:Claudin_2	15	184	1.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143788

Predicted Effect

probably benign
Transcript: ENSMUST00000127437

Predicted Effect

probably benign
Transcript: ENSMUST00000142788

SMART Domains

Protein: ENSMUSP00000136063
Gene: ENSMUSG00000018565

Domain	Start	End	E-Value	Type
Pfam:Elong_Iki1	1	63	1.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151515

SMART Domains

Protein: ENSMUSP00000137627
Gene: ENSMUSG00000018569

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	99	5.7e-30	PFAM
Pfam:Claudin_2	1	101	7.3e-11	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.2%

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 expressed constitutively in the mammary epithelium throughout development, and might be involved in vesicle trafficking to the basolateral membrane. It is essential for NaCl homeostasis in distal nephrons. The knockout mice lacking this gene showed severe salt wasting, chronic dehydration, and growth retardation, and died within 12 days after birth. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, weight, and length; abnormal potassium, chloride, and sodium ion excretion; chronic dehydration; and postnatal lethality by P12. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,297,257 (GRCm39)	L2411R	probably damaging	Het
Als2	A	G	1: 59,245,746 (GRCm39)	W577R	probably damaging	Het
Aox1	C	A	1: 58,346,518 (GRCm39)	R551S	probably benign	Het
Areg	A	T	5: 91,294,577 (GRCm39)	H245L	possibly damaging	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Arhgef28	A	T	13: 98,073,368 (GRCm39)	C1322*	probably null	Het
Arhgef38	T	C	3: 132,912,719 (GRCm39)	R107G	possibly damaging	Het
Atf7ip	T	A	6: 136,548,500 (GRCm39)	F695L	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Bche	T	G	3: 73,556,011 (GRCm39)	Q549P	possibly damaging	Het
Blnk	A	G	19: 40,917,733 (GRCm39)	F417L	possibly damaging	Het
Bloc1s1	T	G	10: 128,759,255 (GRCm39)	K17T	probably damaging	Het
C330018D20Rik	G	T	18: 57,090,968 (GRCm39)	T65K	probably damaging	Het
Ccdc168	A	T	1: 44,096,417 (GRCm39)	N1560K	probably benign	Het
Cers1	T	A	8: 70,774,228 (GRCm39)	S162T	possibly damaging	Het
Cgn	T	C	3: 94,686,832 (GRCm39)	K157E	probably benign	Het
Clrn2	C	A	5: 45,611,369 (GRCm39)	Q73K	probably benign	Het
Cmss1	A	G	16: 57,122,608 (GRCm39)	V262A	probably benign	Het
Cpb2	T	A	14: 75,498,128 (GRCm39)	V97E	probably damaging	Het
Ctnnd2	G	A	15: 30,683,387 (GRCm39)	V463I	probably benign	Het
Cyp7a1	A	T	4: 6,268,476 (GRCm39)	S416R	probably benign	Het
Dip2b	C	T	15: 100,087,960 (GRCm39)	R965C	probably damaging	Het
Dkk3	T	C	7: 111,749,865 (GRCm39)	T102A	probably benign	Het
Dmap1	C	A	4: 117,538,039 (GRCm39)		probably null	Het
Dnah12	C	A	14: 26,608,828 (GRCm39)	D3872E	possibly damaging	Het
Dnah7b	A	G	1: 46,158,558 (GRCm39)		probably null	Het
Dnai1	C	T	4: 41,632,391 (GRCm39)	T575I	probably benign	Het
Dsg1a	T	A	18: 20,464,599 (GRCm39)	Y365N	probably damaging	Het
Dusp11	T	A	6: 85,936,215 (GRCm39)	K18*	probably null	Het
E2f2	A	T	4: 135,900,245 (GRCm39)	T52S	probably benign	Het
Elavl4	A	G	4: 110,147,841 (GRCm39)	L13S	probably benign	Het
Epor	T	C	9: 21,873,572 (GRCm39)	D59G	possibly damaging	Het
Eral1	A	G	11: 77,971,059 (GRCm39)	C43R	possibly damaging	Het
Fam135b	A	G	15: 71,362,697 (GRCm39)	V228A	probably benign	Het
Gba1	T	C	3: 89,113,129 (GRCm39)	S187P	probably damaging	Het
Gcc2	G	T	10: 58,091,669 (GRCm39)		probably benign	Het
Gdap2	C	A	3: 100,109,572 (GRCm39)		probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gpr160	T	C	3: 30,950,612 (GRCm39)	L228P	probably benign	Het
Gsdmc2	A	C	15: 63,702,715 (GRCm39)	V184G	probably benign	Het
Gtf2e2	A	T	8: 34,266,080 (GRCm39)	K252M	probably damaging	Het
Gtf2e2	G	T	8: 34,266,081 (GRCm39)	K252N	probably benign	Het
Gys1	T	C	7: 45,087,529 (GRCm39)	Y102H	probably benign	Het
H4c2	A	G	13: 23,941,209 (GRCm39)	D69G	probably damaging	Het
Ifit3b	A	C	19: 34,589,598 (GRCm39)	D258A	probably damaging	Het
Itpr3	T	A	17: 27,323,575 (GRCm39)	M1200K	probably damaging	Het
Kcng4	A	T	8: 120,353,098 (GRCm39)	F271I	probably damaging	Het
Klhdc2	C	T	12: 69,350,387 (GRCm39)	S144L	possibly damaging	Het
Lhcgr	A	G	17: 89,063,006 (GRCm39)	F222S	probably damaging	Het
Lrp5	C	G	19: 3,678,299 (GRCm39)	G519R	probably damaging	Het
Magel2	T	C	7: 62,028,515 (GRCm39)	V473A	probably benign	Het
Map1a	T	C	2: 121,134,776 (GRCm39)	V1864A	possibly damaging	Het
Mast4	T	A	13: 102,895,242 (GRCm39)	Q760H	probably damaging	Het
Mertk	A	G	2: 128,613,294 (GRCm39)	N437D	probably benign	Het
Mettl18	G	A	1: 163,824,344 (GRCm39)	V222I	probably benign	Het
Mical2	C	T	7: 111,934,155 (GRCm39)	T782M	probably benign	Het
Mocos	T	A	18: 24,819,750 (GRCm39)	V664E	probably damaging	Het
Neb	G	T	2: 52,185,306 (GRCm39)	N975K	probably benign	Het
Nectin3	A	T	16: 46,284,508 (GRCm39)	S59T	probably benign	Het
Nelfb	A	T	2: 25,093,900 (GRCm39)	M11K	probably damaging	Het
Nrp1	A	G	8: 129,202,650 (GRCm39)	N545S	probably damaging	Het
Or10ak11	T	C	4: 118,687,478 (GRCm39)	D53G	probably damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or51b4	T	A	7: 103,530,907 (GRCm39)	D181V	probably damaging	Het
Or5b117	A	T	19: 13,431,324 (GRCm39)	S186T	possibly damaging	Het
Or5p67	T	A	7: 107,922,254 (GRCm39)	T210S	probably benign	Het
Or6c70	A	T	10: 129,710,390 (GRCm39)	F79I	probably damaging	Het
Or8g53	T	C	9: 39,683,836 (GRCm39)	T87A	probably benign	Het
P3h1	A	G	4: 119,103,862 (GRCm39)	H587R	probably damaging	Het
Paqr4	A	G	17: 23,958,832 (GRCm39)		probably null	Het
Pde12	A	G	14: 26,390,253 (GRCm39)	V152A	probably benign	Het
Ppip5k1	C	A	2: 121,180,972 (GRCm39)	E45*	probably null	Het
Ptch2	C	T	4: 116,967,254 (GRCm39)	A677V	probably benign	Het
Rgs12	A	G	5: 35,177,689 (GRCm39)	N93S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Robo4	A	G	9: 37,322,696 (GRCm39)	I850V	probably damaging	Het
Scap	T	A	9: 110,210,219 (GRCm39)	I876N	probably damaging	Het
Sin3a	A	G	9: 57,034,484 (GRCm39)	D1219G	possibly damaging	Het
Skint5	T	C	4: 113,743,005 (GRCm39)	E354G	unknown	Het
Spart	A	G	3: 55,033,962 (GRCm39)	D396G	probably benign	Het
Spindoc	G	A	19: 7,351,024 (GRCm39)	S311L	probably benign	Het
Spta1	G	T	1: 174,050,894 (GRCm39)	R1791L	probably damaging	Het
Tbck	T	C	3: 132,507,278 (GRCm39)	I750T	possibly damaging	Het
Tmem191	T	C	16: 17,094,334 (GRCm39)		probably null	Het
Trgv1	A	T	13: 19,524,474 (GRCm39)	Y66F	probably benign	Het
Vmn2r125	A	G	4: 156,702,292 (GRCm39)	Y26C	probably damaging	Het
Zbtb17	T	C	4: 141,192,128 (GRCm39)	C358R	possibly damaging	Het
Zfp180	G	A	7: 23,804,859 (GRCm39)	G426E	probably damaging	Het
Zfp445	A	G	9: 122,682,951 (GRCm39)	V330A	probably benign	Het
Zfp595	A	G	13: 67,465,688 (GRCm39)	C192R	probably damaging	Het
Zkscan4	A	G	13: 21,668,623 (GRCm39)	H387R	probably damaging	Het

Other mutations in Cldn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Cldn7	APN	11	69,857,834 (GRCm39)	missense	probably benign	0.01
R4890:Cldn7	UTSW	11	69,857,918 (GRCm39)	missense	probably benign
R7482:Cldn7	UTSW	11	69,856,865 (GRCm39)	missense	possibly damaging	0.91
R8145:Cldn7	UTSW	11	69,856,892 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GATTATGTGGACTTGGGAGACATC -3'
(R):5'- CGGCCTGGAAAGACCTAATTTC -3'

Sequencing Primer
(F):5'- GACATCAGGTCCGTTTTGACTC -3'
(R):5'- TTTATTTCTGTACAAAAGCACACCCC -3'

Posted On

2017-06-26