Mutagenetix > Incidental Mutation

Incidental Mutation 'R2511:Clcn7'

253036

Institutional Source

Beutler Lab

Gene Symbol

Clcn7

Ensembl Gene

ENSMUSG00000036636

Gene Name

chloride channel, voltage-sensitive 7

Synonyms

ClC-7

MMRRC Submission

040417-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25352365-25381078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25374420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 507 (V507E)

Ref Sequence

ENSEMBL: ENSMUSP00000035964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040729] [ENSMUST00000160961]

AlphaFold

O70496

Predicted Effect

probably damaging
Transcript: ENSMUST00000040729
AA Change: V507E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035964
Gene: ENSMUSG00000036636
AA Change: V507E

Domain	Start	End	E-Value	Type
low complexity region	60	74	N/A	INTRINSIC
Pfam:Voltage_CLC	183	594	1.5e-96	PFAM
CBS	632	687	8.38e-4	SMART
CBS	742	790	1.77e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159426

Predicted Effect

probably benign
Transcript: ENSMUST00000159773

SMART Domains

Protein: ENSMUSP00000125546
Gene: ENSMUSG00000036636

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	76	202	5.3e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160961
AA Change: V487E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124194
Gene: ENSMUSG00000036636
AA Change: V487E

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	40	54	N/A	INTRINSIC
Pfam:Voltage_CLC	163	574	1.5e-93	PFAM
CBS	612	667	8.38e-4	SMART
CBS	722	770	1.77e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161153

Predicted Effect

unknown
Transcript: ENSMUST00000162862
AA Change: V219E

SMART Domains

Protein: ENSMUSP00000124527
Gene: ENSMUSG00000036636
AA Change: V219E

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	5	307	1.3e-48	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,097,902 (GRCm39)	C100S	probably damaging	Het
Abcc8	C	T	7: 45,800,204 (GRCm39)	R526H	probably damaging	Het
Acad10	G	A	5: 121,769,630 (GRCm39)	P609S	probably benign	Het
Acod1	A	T	14: 103,288,775 (GRCm39)	D95V	probably damaging	Het
Acsm5	A	T	7: 119,129,677 (GRCm39)	I130F	possibly damaging	Het
Ago4	A	T	4: 126,410,864 (GRCm39)	D208E	probably damaging	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,697,853 (GRCm39)	I791K	probably damaging	Het
Ano10	A	G	9: 122,088,011 (GRCm39)	V364A	probably damaging	Het
Arhgap9	T	C	10: 127,164,854 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,666 (GRCm39)	C183Y	probably damaging	Het
Ascl2	T	G	7: 142,521,953 (GRCm39)	E97A	probably damaging	Het
Bcl2a1a	C	T	9: 88,839,506 (GRCm39)	R135W	probably damaging	Het
Bms1	C	T	6: 118,368,114 (GRCm39)		probably null	Het
Bysl	T	A	17: 47,915,260 (GRCm39)	T163S	probably benign	Het
Card10	A	G	15: 78,664,473 (GRCm39)	I821T	probably benign	Het
Cc2d2a	A	T	5: 43,892,737 (GRCm39)	Q1433L	probably damaging	Het
Cchcr1	T	C	17: 35,841,410 (GRCm39)	S809P	probably benign	Het
Ccz1	G	T	5: 143,949,815 (GRCm39)	T70K	probably damaging	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cep164	A	T	9: 45,686,547 (GRCm39)	L729Q	probably damaging	Het
Clcn6	A	G	4: 148,101,951 (GRCm39)		probably null	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Ctso	A	C	3: 81,840,041 (GRCm39)	T24P	probably damaging	Het
Dis3l2	A	T	1: 86,917,980 (GRCm39)	N543I	probably benign	Het
Dnah12	A	T	14: 26,491,907 (GRCm39)	Y1114F	possibly damaging	Het
Emx1	A	G	6: 85,181,033 (GRCm39)	D250G	probably benign	Het
Epha4	G	A	1: 77,488,339 (GRCm39)	A47V	possibly damaging	Het
Fam149b	A	C	14: 20,428,524 (GRCm39)	N341T	probably damaging	Het
Fsip2	A	G	2: 82,782,001 (GRCm39)	K62R	probably damaging	Het
Fsip2	T	C	2: 82,816,782 (GRCm39)	S4172P	probably benign	Het
Gbp3	A	G	3: 142,276,343 (GRCm39)	R480G	probably benign	Het
Get3	A	G	8: 85,746,395 (GRCm39)	V151A	possibly damaging	Het
Gja8	T	G	3: 96,827,033 (GRCm39)	T210P	probably damaging	Het
Gm5431	T	A	11: 48,779,536 (GRCm39)	N740I	probably benign	Het
Gm9930	T	C	10: 9,410,446 (GRCm39)		noncoding transcript	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Gzmg	A	T	14: 56,395,832 (GRCm39)	D42E	probably benign	Het
Hoxd12	G	A	2: 74,505,815 (GRCm39)	A129T	possibly damaging	Het
Hs2st1	G	A	3: 144,275,691 (GRCm39)		probably benign	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Igsf10	T	C	3: 59,239,287 (GRCm39)	D298G	probably damaging	Het
Irf1	T	C	11: 53,664,617 (GRCm39)	V108A	probably damaging	Het
Jsrp1	C	G	10: 80,648,140 (GRCm39)	S36T	probably benign	Het
Kcnq5	T	A	1: 21,576,006 (GRCm39)	R233*	probably null	Het
Kif7	T	C	7: 79,352,012 (GRCm39)	K917E	probably damaging	Het
Krt7	A	C	15: 101,310,538 (GRCm39)	I62L	probably benign	Het
Lifr	A	G	15: 7,196,397 (GRCm39)	T194A	probably benign	Het
Ltbp2	T	C	12: 84,851,183 (GRCm39)		probably null	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Man2c1	A	G	9: 57,048,672 (GRCm39)		probably null	Het
Met	T	C	6: 17,491,966 (GRCm39)	S243P	probably damaging	Het
Mllt10	C	A	2: 18,069,935 (GRCm39)	D30E	possibly damaging	Het
Mre11a	A	C	9: 14,707,065 (GRCm39)		probably null	Het
Mroh9	A	G	1: 162,866,514 (GRCm39)	S710P	probably benign	Het
Mvk	C	A	5: 114,588,459 (GRCm39)	Y116*	probably null	Het
Myh1	A	G	11: 67,096,423 (GRCm39)	I301V	probably benign	Het
Ncf1	T	C	5: 134,254,552 (GRCm39)	D184G	probably damaging	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or2ag18	G	T	7: 106,405,168 (GRCm39)	P167H	probably damaging	Het
Or2y1b	T	G	11: 49,209,048 (GRCm39)	L225R	probably damaging	Het
Or4k51	T	A	2: 111,584,661 (GRCm39)	N22K	probably benign	Het
Or52b1	A	T	7: 104,978,817 (GRCm39)	I194N	probably damaging	Het
Or5b24	T	A	19: 12,912,537 (GRCm39)	M145K	possibly damaging	Het
Or5w14	T	C	2: 87,541,392 (GRCm39)	N286S	probably damaging	Het
Pcdh1	G	A	18: 38,332,532 (GRCm39)	T296M	possibly damaging	Het
Pcdh15	A	G	10: 74,481,828 (GRCm39)	D391G	possibly damaging	Het
Pcdha7	C	A	18: 37,107,786 (GRCm39)	D270E	probably damaging	Het
Pgam1	C	A	19: 41,904,315 (GRCm39)	S137R	probably damaging	Het
Pitpnm2	T	C	5: 124,274,389 (GRCm39)	E240G	probably damaging	Het
Plce1	T	G	19: 38,748,498 (GRCm39)	I1729S	probably damaging	Het
Plppr4	G	T	3: 117,125,355 (GRCm39)	N161K	probably damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Prkce	T	A	17: 86,932,754 (GRCm39)	I578N	probably damaging	Het
Prss58	A	C	6: 40,874,734 (GRCm39)	S36A	probably damaging	Het
Ptprm	T	C	17: 67,000,773 (GRCm39)	H1128R	probably damaging	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rubcn	T	C	16: 32,667,624 (GRCm39)	N179S	probably damaging	Het
Sh3bp1	C	T	15: 78,795,706 (GRCm39)	P612S	probably damaging	Het
Sh3bp5	G	A	14: 31,133,586 (GRCm39)	T82M	probably damaging	Het
Shank2	A	G	7: 143,965,314 (GRCm39)	Y974C	probably damaging	Het
Slc9c1	T	C	16: 45,365,099 (GRCm39)	I144T	possibly damaging	Het
Slf2	T	C	19: 44,930,045 (GRCm39)	I374T	possibly damaging	Het
Snx13	A	G	12: 35,188,080 (GRCm39)	D786G	probably benign	Het
Spcs3	A	G	8: 54,976,389 (GRCm39)	V151A	possibly damaging	Het
Sstr2	A	T	11: 113,515,749 (GRCm39)	I223F	probably damaging	Het
Stac3	T	C	10: 127,339,787 (GRCm39)		probably null	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgm5	T	C	2: 120,907,429 (GRCm39)	E98G	possibly damaging	Het
Tktl2	A	G	8: 66,965,504 (GRCm39)	E354G	probably benign	Het
Tmem94	G	A	11: 115,682,787 (GRCm39)	R608H	probably damaging	Het
Tnrc6a	G	A	7: 122,770,315 (GRCm39)	V702I	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Trim24	G	A	6: 37,880,587 (GRCm39)		probably null	Het
Ugt1a2	A	G	1: 88,128,846 (GRCm39)	Y163C	probably damaging	Het
Vmn1r215	A	G	13: 23,260,343 (GRCm39)	I128V	probably benign	Het
Vmn2r50	T	A	7: 9,781,640 (GRCm39)	E368D	possibly damaging	Het
Vmn2r59	T	C	7: 41,693,190 (GRCm39)	N470S	probably damaging	Het
Vps45	T	C	3: 95,948,757 (GRCm39)	T333A	probably benign	Het
Zbtb44	T	A	9: 30,965,539 (GRCm39)	D316E	probably damaging	Het
Zdhhc1	C	T	8: 106,210,190 (GRCm39)	V76M	probably benign	Het
Zfp235	T	C	7: 23,841,549 (GRCm39)	F656S	probably damaging	Het

Other mutations in Clcn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Clcn7	APN	17	25,370,097 (GRCm39)	missense	probably damaging	1.00
IGL01735:Clcn7	APN	17	25,370,090 (GRCm39)	missense	probably benign	0.13
IGL01912:Clcn7	APN	17	25,371,983 (GRCm39)	splice site	probably benign
IGL01936:Clcn7	APN	17	25,374,350 (GRCm39)	missense	probably benign	0.44
IGL02084:Clcn7	APN	17	25,376,899 (GRCm39)	missense	probably benign
IGL02121:Clcn7	APN	17	25,372,058 (GRCm39)	missense	possibly damaging	0.95
IGL02160:Clcn7	APN	17	25,368,004 (GRCm39)	unclassified	probably benign
IGL02335:Clcn7	APN	17	25,365,821 (GRCm39)	missense	probably benign	0.00
IGL02507:Clcn7	APN	17	25,363,443 (GRCm39)	missense	probably damaging	1.00
IGL02605:Clcn7	APN	17	25,365,792 (GRCm39)	missense	possibly damaging	0.60
IGL03160:Clcn7	APN	17	25,365,427 (GRCm39)	unclassified	probably benign
IGL03192:Clcn7	APN	17	25,352,575 (GRCm39)	missense	probably benign	0.00
IGL03194:Clcn7	APN	17	25,369,522 (GRCm39)	missense	probably damaging	0.98
IGL03409:Clcn7	APN	17	25,374,359 (GRCm39)	missense	probably damaging	1.00
R0140:Clcn7	UTSW	17	25,372,728 (GRCm39)	missense	probably damaging	1.00
R0153:Clcn7	UTSW	17	25,368,176 (GRCm39)	unclassified	probably benign
R0970:Clcn7	UTSW	17	25,370,208 (GRCm39)	critical splice donor site	probably null
R1644:Clcn7	UTSW	17	25,378,672 (GRCm39)	missense	probably damaging	1.00
R1856:Clcn7	UTSW	17	25,379,445 (GRCm39)	missense	probably damaging	1.00
R2145:Clcn7	UTSW	17	25,363,425 (GRCm39)	missense	probably benign
R2173:Clcn7	UTSW	17	25,364,583 (GRCm39)	missense	probably benign
R2401:Clcn7	UTSW	17	25,372,114 (GRCm39)	missense	probably benign	0.02
R3683:Clcn7	UTSW	17	25,369,567 (GRCm39)	missense	possibly damaging	0.84
R3684:Clcn7	UTSW	17	25,369,567 (GRCm39)	missense	possibly damaging	0.84
R3694:Clcn7	UTSW	17	25,378,681 (GRCm39)	missense	probably damaging	0.99
R4424:Clcn7	UTSW	17	25,379,150 (GRCm39)	missense	probably damaging	1.00
R4681:Clcn7	UTSW	17	25,376,935 (GRCm39)	missense	probably damaging	1.00
R4870:Clcn7	UTSW	17	25,372,539 (GRCm39)	intron	probably benign
R5372:Clcn7	UTSW	17	25,376,153 (GRCm39)	missense	possibly damaging	0.82
R5820:Clcn7	UTSW	17	25,368,026 (GRCm39)	missense	probably damaging	1.00
R6154:Clcn7	UTSW	17	25,376,928 (GRCm39)	missense	probably damaging	0.98
R6181:Clcn7	UTSW	17	25,370,702 (GRCm39)	missense	possibly damaging	0.79
R6306:Clcn7	UTSW	17	25,376,502 (GRCm39)	missense	probably benign	0.01
R6798:Clcn7	UTSW	17	25,378,734 (GRCm39)	missense	probably damaging	1.00
R6961:Clcn7	UTSW	17	25,376,188 (GRCm39)	missense	probably damaging	1.00
R7020:Clcn7	UTSW	17	25,365,325 (GRCm39)	missense	possibly damaging	0.76
R7089:Clcn7	UTSW	17	25,372,667 (GRCm39)	missense
R7757:Clcn7	UTSW	17	25,375,796 (GRCm39)	missense	probably damaging	1.00
R8057:Clcn7	UTSW	17	25,368,233 (GRCm39)	nonsense	probably null
R8670:Clcn7	UTSW	17	25,378,588 (GRCm39)	missense	probably damaging	0.99
R9031:Clcn7	UTSW	17	25,376,497 (GRCm39)	missense	probably damaging	0.96
R9720:Clcn7	UTSW	17	25,374,471 (GRCm39)	missense	probably damaging	1.00
X0020:Clcn7	UTSW	17	25,369,200 (GRCm39)	missense	probably damaging	1.00
Z1177:Clcn7	UTSW	17	25,371,989 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TACCTCTCACCTGGAAAAGCTG -3'
(R):5'- AAGTGTCCAGATCCCACCTG -3'

Sequencing Primer
(F):5'- TCTCACCTGGAAAAGCTGAGAATAC -3'
(R):5'- TGTGGTATCCCCTAGACCTAG -3'

Posted On

2014-12-04