Mutagenetix > Incidental Mutation

Incidental Mutation 'R2145:Clcn7'

233781

Institutional Source

Beutler Lab

Gene Symbol

Clcn7

Ensembl Gene

ENSMUSG00000036636

Gene Name

chloride channel, voltage-sensitive 7

Synonyms

ClC-7

MMRRC Submission

040148-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2145 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25352365-25381078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25363425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 34 (I34V)

Ref Sequence

ENSEMBL: ENSMUSP00000124194 (fasta)

Gene Model

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

AlphaFold

O70496

Predicted Effect

probably benign
Transcript: ENSMUST00000040729
AA Change: I54V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035964
Gene: ENSMUSG00000036636
AA Change: I54V

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

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 benign
Transcript: ENSMUST00000160961
AA Change: I34V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124194
Gene: ENSMUSG00000036636
AA Change: I34V

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

noncoding transcript
Transcript: ENSMUST00000162722

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (101/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,953,701 (GRCm39)	N535S	probably benign	Het
Abcc6	A	T	7: 45,648,165 (GRCm39)	L717Q	probably benign	Het
Abraxas2	C	A	7: 132,484,790 (GRCm39)	Q278K	probably benign	Het
Acap2	A	T	16: 30,924,342 (GRCm39)	D637E	probably benign	Het
AI661453	A	G	17: 47,777,023 (GRCm39)		probably benign	Het
Aoah	A	T	13: 21,024,266 (GRCm39)	E74V	probably damaging	Het
Aoc1l1	A	T	6: 48,953,629 (GRCm39)	D518V	probably damaging	Het
Appl1	A	G	14: 26,671,576 (GRCm39)	L292S	possibly damaging	Het
Astl	T	A	2: 127,189,109 (GRCm39)	V166E	probably damaging	Het
Bbs1	T	G	19: 4,953,735 (GRCm39)	K143Q	possibly damaging	Het
Bbx	T	C	16: 50,094,907 (GRCm39)		probably benign	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
C1qtnf2	T	G	11: 43,381,811 (GRCm39)	F178V	probably damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cfap68	T	C	9: 50,676,174 (GRCm39)	Y32C	probably damaging	Het
Cntn5	G	T	9: 9,748,420 (GRCm39)	P487Q	probably damaging	Het
Ctu2	T	A	8: 123,205,891 (GRCm39)	I213K	probably benign	Het
Des	C	A	1: 75,340,108 (GRCm39)		probably benign	Het
Dgcr8	A	T	16: 18,098,094 (GRCm39)	D432E	probably benign	Het
Dlgap5	G	A	14: 47,633,380 (GRCm39)	R549*	probably null	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dmxl2	T	C	9: 54,323,194 (GRCm39)	T1397A	probably damaging	Het
Dnmt1	T	A	9: 20,848,451 (GRCm39)		probably benign	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dtwd1	C	A	2: 126,001,904 (GRCm39)	T208N	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Dync1i2	T	A	2: 71,044,907 (GRCm39)		probably benign	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Fmod	T	C	1: 133,968,256 (GRCm39)	Y99H	probably benign	Het
Fn1	A	T	1: 71,645,163 (GRCm39)	V1552D	probably damaging	Het
Fnip2	A	T	3: 79,407,739 (GRCm39)	S281T	probably damaging	Het
Glb1	A	G	9: 114,293,233 (GRCm39)	H536R	probably benign	Het
Glis2	T	A	16: 4,431,506 (GRCm39)	S344R	possibly damaging	Het
Gm4847	A	T	1: 166,462,472 (GRCm39)	S339R	probably benign	Het
Gpr155	A	G	2: 73,187,002 (GRCm39)	S44P	probably benign	Het
Gprin1	G	A	13: 54,886,445 (GRCm39)	P610S	probably damaging	Het
Gvin3	T	A	7: 106,202,215 (GRCm39)	H343L	possibly damaging	Het
H2-Ob	A	T	17: 34,461,554 (GRCm39)	M98L	probably benign	Het
H3c6	T	C	13: 23,746,530 (GRCm39)	T4A	probably benign	Het
Hmcn2	T	C	2: 31,223,943 (GRCm39)		probably benign	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Il13	T	C	11: 53,523,351 (GRCm39)	T85A	possibly damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Irgm2	T	C	11: 58,111,355 (GRCm39)	S361P	possibly damaging	Het
Itga11	C	T	9: 62,639,486 (GRCm39)		probably benign	Het
Kalrn	G	T	16: 33,829,632 (GRCm39)		probably benign	Het
Kcng1	C	A	2: 168,110,952 (GRCm39)	G71C	probably damaging	Het
Kcnq5	T	A	1: 21,575,573 (GRCm39)	D291V	probably damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lhx6	C	T	2: 35,977,478 (GRCm39)	V325I	probably benign	Het
Lipc	A	G	9: 70,841,817 (GRCm39)	I9T	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mast1	C	A	8: 85,648,107 (GRCm39)	G458V	probably damaging	Het
Mga	T	C	2: 119,794,638 (GRCm39)	V2565A	possibly damaging	Het
Mpzl2	C	G	9: 44,955,471 (GRCm39)	D127E	probably benign	Het
Mrtfb	T	C	16: 13,230,450 (GRCm39)	I1045T	probably damaging	Het
Myh3	T	A	11: 66,981,882 (GRCm39)	C793S	probably benign	Het
Nomo1	T	C	7: 45,715,928 (GRCm39)	L765P	probably damaging	Het
Nup210	A	G	6: 91,005,858 (GRCm39)	I1335T	possibly damaging	Het
Or52b3	T	C	7: 102,204,267 (GRCm39)		probably null	Het
Oxr1	T	A	15: 41,683,340 (GRCm39)	S254R	probably damaging	Het
Pan3	A	G	5: 147,466,908 (GRCm39)	I592V	possibly damaging	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pex2	T	C	3: 5,626,650 (GRCm39)	E53G	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Phactr4	T	C	4: 132,098,095 (GRCm39)	E391G	probably damaging	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,376,273 (GRCm39)		probably null	Het
Pnlip	A	G	19: 58,664,876 (GRCm39)	S235G	probably benign	Het
Prkd1	A	G	12: 50,536,694 (GRCm39)	V130A	possibly damaging	Het
Ptpn13	A	G	5: 103,703,999 (GRCm39)	T1344A	probably benign	Het
Ptprc	T	C	1: 138,001,419 (GRCm39)	Y780C	probably damaging	Het
Pxn	T	A	5: 115,690,815 (GRCm39)		probably benign	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rc3h1	G	T	1: 160,757,827 (GRCm39)	K48N	probably damaging	Het
Rfwd3	T	C	8: 112,009,245 (GRCm39)	I444V	probably benign	Het
Rictor	C	T	15: 6,794,588 (GRCm39)	R293C	probably damaging	Het
Rif1	T	A	2: 52,001,412 (GRCm39)	I1622N	possibly damaging	Het
Rnf213	T	C	11: 119,306,019 (GRCm39)	V609A	probably benign	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Serac1	A	T	17: 6,101,060 (GRCm39)	I448N	probably damaging	Het
Sh3kbp1	C	A	X: 158,607,492 (GRCm39)	T200K	probably benign	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
Socs7	T	C	11: 97,263,950 (GRCm39)	F281L	probably benign	Het
Spta1	C	T	1: 174,040,180 (GRCm39)	L1214F	probably benign	Het
Ssu72	A	G	4: 155,789,900 (GRCm39)	E21G	probably damaging	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tmem130	C	A	5: 144,680,595 (GRCm39)	V270L	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Tspyl2	A	T	X: 151,121,890 (GRCm39)	D572E	probably benign	Het
Unc45b	G	A	11: 82,808,580 (GRCm39)	R222H	probably benign	Het
Uxs1	T	C	1: 43,866,783 (GRCm39)	Y29C	probably damaging	Het
Virma	T	A	4: 11,548,726 (GRCm39)		probably benign	Het
Vmn1r202	C	T	13: 22,685,953 (GRCm39)	G155S	possibly damaging	Het
Vmn2r24	T	A	6: 123,755,972 (GRCm39)	F15I	probably benign	Het
Wdr64	A	G	1: 175,594,661 (GRCm39)	T471A	probably benign	Het
Zfa-ps	T	A	10: 52,419,373 (GRCm39)		noncoding transcript	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp821	A	G	8: 110,450,979 (GRCm39)	D324G	probably damaging	Het
Zfp934	T	C	13: 62,665,648 (GRCm39)	D331G	probably damaging	Het
Zscan29	T	C	2: 121,000,587 (GRCm39)	R7G	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
R2173:Clcn7	UTSW	17	25,364,583 (GRCm39)	missense	probably benign
R2401:Clcn7	UTSW	17	25,372,114 (GRCm39)	missense	probably benign	0.02
R2511:Clcn7	UTSW	17	25,374,420 (GRCm39)	missense	probably damaging	1.00
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'- CATGCTTTCTCTCGTATGGAAC -3'
(R):5'- GTTCTAGGGACACCAGAATCTACC -3'

Sequencing Primer
(F):5'- CAGACAGGGTGGTGTACTGC -3'
(R):5'- CCCCAGGGTCAGAGGAAATG -3'

Posted On

2014-10-01