Mutagenetix > Incidental Mutation

Incidental Mutation 'R8057:Clcn7'

619486

Institutional Source

Beutler Lab

Gene Symbol

Clcn7

Ensembl Gene

ENSMUSG00000036636

Gene Name

chloride channel, voltage-sensitive 7

Synonyms

ClC-7

MMRRC Submission

067494-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25352365-25381078 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 25368233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 261 (Q261*)

Ref Sequence

ENSEMBL: ENSMUSP00000035964 (fasta)

Gene Model

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

AlphaFold

O70496

Predicted Effect

probably null
Transcript: ENSMUST00000040729
AA Change: Q261*

SMART Domains

Protein: ENSMUSP00000035964
Gene: ENSMUSG00000036636
AA Change: Q261*

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 null
Transcript: ENSMUST00000159773
AA Change: Q144*

SMART Domains

Protein: ENSMUSP00000125546
Gene: ENSMUSG00000036636
AA Change: Q144*

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

Predicted Effect

probably null
Transcript: ENSMUST00000160961
AA Change: Q241*

SMART Domains

Protein: ENSMUSP00000124194
Gene: ENSMUSG00000036636
AA Change: Q241*

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

probably benign
Transcript: ENSMUST00000162862

SMART Domains

Protein: ENSMUSP00000124527
Gene: ENSMUSG00000036636

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,826 (GRCm39)	L32P	probably damaging	Het
4930563M21Rik	T	C	9: 55,916,564 (GRCm39)	T38A	unknown	Het
Abcb6	T	C	1: 75,151,002 (GRCm39)	N563D	probably damaging	Het
Ak4	T	C	4: 101,317,850 (GRCm39)	F140S	probably damaging	Het
Arhgap27	T	A	11: 103,229,519 (GRCm39)	R296S	probably damaging	Het
Atxn7l1	A	C	12: 33,376,001 (GRCm39)	K98N	probably damaging	Het
Bex6	G	T	16: 32,005,224 (GRCm39)	D11Y	probably damaging	Het
Camta1	T	C	4: 151,228,489 (GRCm39)	D781G	probably damaging	Het
Capn7	A	G	14: 31,092,936 (GRCm39)	D800G	probably benign	Het
Carmil2	G	A	8: 106,419,008 (GRCm39)	V716I	probably benign	Het
Cdk5	C	A	5: 24,625,782 (GRCm39)	D144Y	probably damaging	Het
Cep85	T	C	4: 133,880,925 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,450,829 (GRCm39)	L651Q	probably damaging	Het
Cimap1d	T	A	10: 79,475,835 (GRCm39)	H243L	probably damaging	Het
Cntnap2	T	A	6: 46,324,079 (GRCm39)	F576Y	probably damaging	Het
Col11a1	G	A	3: 113,925,263 (GRCm39)	G815D	unknown	Het
Col4a4	T	A	1: 82,501,591 (GRCm39)	R387S	unknown	Het
Cse1l	T	A	2: 166,781,845 (GRCm39)	V663D	probably damaging	Het
Csf2rb2	G	T	15: 78,169,206 (GRCm39)	Q650K	probably damaging	Het
Ctnnd2	A	G	15: 30,847,497 (GRCm39)	D696G	possibly damaging	Het
Dnah7c	T	A	1: 46,728,112 (GRCm39)	C2937S	possibly damaging	Het
Epha10	A	T	4: 124,796,476 (GRCm39)	Q395L		Het
Fam167a	T	A	14: 63,689,769 (GRCm39)	V22E	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Gabra4	A	G	5: 71,781,295 (GRCm39)	I372T	probably benign	Het
Gpt	A	G	15: 76,580,972 (GRCm39)		probably benign	Het
H2-K2	C	T	17: 34,215,833 (GRCm39)	G336D	possibly damaging	Het
Hapstr1	C	T	16: 8,648,232 (GRCm39)		probably benign	Het
Hoxd8	T	C	2: 74,535,070 (GRCm39)		probably null	Het
Ilrun	C	T	17: 27,986,863 (GRCm39)	A288T	unknown	Het
Kdm5d	T	G	Y: 927,355 (GRCm39)	D658E	possibly damaging	Het
Krt25	G	A	11: 99,208,169 (GRCm39)	T353M	probably benign	Het
Lonp2	T	C	8: 87,440,717 (GRCm39)	L778P	probably damaging	Het
Lrrc66	G	A	5: 73,764,875 (GRCm39)	Q723*	probably null	Het
Mak	T	A	13: 41,202,813 (GRCm39)	I212F	probably damaging	Het
Mastl	T	A	2: 23,023,566 (GRCm39)	R386W	possibly damaging	Het
Mis18bp1	A	G	12: 65,195,673 (GRCm39)	I697T	possibly damaging	Het
Nek5	G	A	8: 22,578,922 (GRCm39)	T415I	probably benign	Het
Neu3	T	A	7: 99,463,435 (GRCm39)	N96I	probably benign	Het
Nxph2	T	C	2: 23,290,107 (GRCm39)	V153A	possibly damaging	Het
Or10a3	A	T	7: 108,480,571 (GRCm39)	F81I	probably damaging	Het
Or5b102	G	A	19: 13,040,638 (GRCm39)		probably benign	Het
Or8b4	A	G	9: 37,830,460 (GRCm39)	D169G	probably benign	Het
Otogl	T	C	10: 107,644,476 (GRCm39)	T1257A	probably benign	Het
Pcdh10	G	A	3: 45,333,694 (GRCm39)	V3M	probably benign	Het
Pitpnm1	G	A	19: 4,162,145 (GRCm39)	R1017Q	probably null	Het
Plcb3	A	C	19: 6,932,463 (GRCm39)	H1065Q	probably benign	Het
Plcb3	A	T	19: 6,936,267 (GRCm39)	M752K	probably damaging	Het
Plch1	T	C	3: 63,605,557 (GRCm39)	E1449G	probably benign	Het
Plekha4	T	A	7: 45,198,695 (GRCm39)	C573S	probably benign	Het
Plin2	T	C	4: 86,575,638 (GRCm39)	I304V	possibly damaging	Het
Pnp2	G	A	14: 51,201,838 (GRCm39)	V275I	probably benign	Het
Polr1a	G	A	6: 71,908,644 (GRCm39)	A490T	possibly damaging	Het
Ppp1r12b	A	G	1: 134,883,354 (GRCm39)	F56S	probably damaging	Het
Ptk2	GA	G	15: 73,170,048 (GRCm39)		probably null	Het
Rb1cc1	C	A	1: 6,315,443 (GRCm39)	R473S	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rdx	T	C	9: 51,976,946 (GRCm39)	V65A	probably damaging	Het
Rpl27rt	T	C	18: 34,870,582 (GRCm39)	F39L	probably damaging	Het
Rps6ka5	A	G	12: 100,540,055 (GRCm39)		probably null	Het
Samd5	C	T	10: 9,550,641 (GRCm39)	V23M	probably damaging	Het
Scn9a	T	G	2: 66,345,774 (GRCm39)	R1117S	probably benign	Het
Scrn1	T	A	6: 54,497,758 (GRCm39)	I278L	probably benign	Het
Sec31b	G	T	19: 44,507,804 (GRCm39)	P747T	probably damaging	Het
Sipa1l2	A	T	8: 126,195,269 (GRCm39)	V823E	probably damaging	Het
Slc2a13	T	C	15: 91,400,619 (GRCm39)	N201S	probably damaging	Het
Slc30a3	C	A	5: 31,247,395 (GRCm39)		probably benign	Het
Snx31	C	A	15: 36,523,606 (GRCm39)	V359F	probably damaging	Het
Sstr2	A	G	11: 113,515,099 (GRCm39)	E6G	probably benign	Het
Stc2	C	A	11: 31,317,806 (GRCm39)	E72*	probably null	Het
Tead1	C	T	7: 112,358,721 (GRCm39)	P11L	probably benign	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tmem63c	A	T	12: 87,118,972 (GRCm39)	K301*	probably null	Het
Tns3	G	C	11: 8,442,773 (GRCm39)	A530G	probably benign	Het
Trat1	T	C	16: 48,562,600 (GRCm39)	D70G	probably damaging	Het
Trex1	T	A	9: 108,887,397 (GRCm39)	E198V	probably damaging	Het
Ttn	T	G	2: 76,570,072 (GRCm39)	R26940S	probably damaging	Het
Uba2	T	C	7: 33,867,835 (GRCm39)	K34R	possibly damaging	Het
Vps13d	A	C	4: 144,701,753 (GRCm39)	M4376R		Het
Zfp157	C	A	5: 138,454,336 (GRCm39)	T178K	probably damaging	Het
Zfp318	T	A	17: 46,710,692 (GRCm39)	V805D	possibly 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
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
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'- ACGCTGGTGATCAAGGTGTC -3'
(R):5'- TCTGTAACCACCTGGACTGG -3'

Sequencing Primer
(F):5'- CAAGGTGTCCGGCGTGATTC -3'
(R):5'- ACCTGGACTGGGAGCAG -3'

Posted On

2020-01-23