Mutagenetix > Incidental Mutation

Incidental Mutation 'R6744:Ctns'

532797

Institutional Source

Beutler Lab

Gene Symbol

Ctns

Ensembl Gene

ENSMUSG00000005949

Gene Name

cystinosis, nephropathic

Synonyms

MMRRC Submission

044861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73074422-73089868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73076111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 308 (G308E)

Ref Sequence

ENSEMBL: ENSMUSP00000104116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006103] [ENSMUST00000040687] [ENSMUST00000108476] [ENSMUST00000108477]

AlphaFold

P57757

Predicted Effect

probably damaging
Transcript: ENSMUST00000006103
AA Change: G308E

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

SMART Domains

Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949
AA Change: G308E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CTNS	140	171	6.43e-12	SMART
transmembrane domain	206	225	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
CTNS	279	310	1.47e-6	SMART
transmembrane domain	338	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040687

SMART Domains

Protein: ENSMUSP00000047410
Gene: ENSMUSG00000040158

Domain	Start	End	E-Value	Type
PDZ	27	113	1.1e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108476
AA Change: G308E

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

SMART Domains

Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949
AA Change: G308E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CTNS	140	171	6.43e-12	SMART
transmembrane domain	206	225	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
CTNS	279	310	1.47e-6	SMART
transmembrane domain	338	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108477

SMART Domains

Protein: ENSMUSP00000104117
Gene: ENSMUSG00000040158

Domain	Start	End	E-Value	Type
PDB:3DJ1\|B	1	98	6e-63	PDB
SCOP:d1fc6a3	24	86	3e-7	SMART
Blast:PDZ	27	87	6e-33	BLAST

Meta Mutation Damage Score

0.9697

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased intracellular cystine, progressive accumulation of cystine crystals, occasional muscle impairment, reduced exploratory activity, osteoporosis, and lowered electroretinogram amplitude. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	A	10: 20,841,466 (GRCm39)	L251H	probably damaging	Het
Alk	A	T	17: 72,910,077 (GRCm39)	S210T	probably benign	Het
Arap2	A	G	5: 62,906,281 (GRCm39)	F246S	probably damaging	Het
Atad5	T	A	11: 80,024,858 (GRCm39)	N1749K	probably benign	Het
C87436	T	A	6: 86,423,046 (GRCm39)	S207T	probably damaging	Het
C8b	C	T	4: 104,631,543 (GRCm39)	R53W	probably damaging	Het
Catsperg2	A	G	7: 29,409,244 (GRCm39)	V619A	probably benign	Het
Cdc73	G	A	1: 143,577,887 (GRCm39)		probably benign	Het
Cdh4	C	A	2: 179,489,180 (GRCm39)	H297Q	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,816,207 (GRCm39)	N1328S	probably damaging	Het
Ctnnb1	T	A	9: 120,782,025 (GRCm39)	V346E	probably damaging	Het
Cxxc4	AGGCGGCGGCGGCGGCGGCGGCGGC	AGGCGGCGGCGGCGGCGGCGGCGGCGGC	3: 133,945,891 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,014,532 (GRCm39)	I3685T	probably damaging	Het
Dock6	T	C	9: 21,742,770 (GRCm39)	H775R	probably damaging	Het
Eef1ece2	A	T	16: 20,449,116 (GRCm39)	K165N	probably damaging	Het
Fbxl3	A	T	14: 103,320,730 (GRCm39)	V239D	probably damaging	Het
Gh	T	A	11: 106,192,230 (GRCm39)	K55*	probably null	Het
Havcr2	T	G	11: 46,345,887 (GRCm39)		probably null	Het
Kcnq2	T	A	2: 180,727,099 (GRCm39)	H576L	possibly damaging	Het
Kifap3	A	G	1: 163,676,239 (GRCm39)	N398S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mblac1	A	G	5: 138,192,682 (GRCm39)	E8G	possibly damaging	Het
Mtor	C	T	4: 148,543,112 (GRCm39)	T290I	probably benign	Het
Nceh1	T	C	3: 27,295,938 (GRCm39)	Y400H	probably damaging	Het
Nek9	A	G	12: 85,376,703 (GRCm39)	V226A	probably benign	Het
Or10a3	T	C	7: 108,480,037 (GRCm39)	T259A	probably damaging	Het
Or10al3	T	A	17: 38,012,336 (GRCm39)	Y258*	probably null	Het
Or2d4	A	G	7: 106,543,741 (GRCm39)	S156P	probably damaging	Het
Otud4	C	A	8: 80,400,407 (GRCm39)	Y1039*	probably null	Het
Pax4	T	C	6: 28,442,396 (GRCm39)	H331R	probably benign	Het
Piezo2	A	T	18: 63,165,960 (GRCm39)	Y2090*	probably null	Het
Ppp1r12a	T	A	10: 108,066,395 (GRCm39)	H195Q	probably damaging	Het
Ppp6r2	A	G	15: 89,140,864 (GRCm39)		probably null	Het
Prodh	A	G	16: 17,897,064 (GRCm39)	V23A	probably benign	Het
Psg20	G	A	7: 18,408,505 (GRCm39)	T405I	probably damaging	Het
Ptprf	T	C	4: 118,093,562 (GRCm39)	D360G	probably benign	Het
Qrfprl	T	A	6: 65,418,324 (GRCm39)	M164K	possibly damaging	Het
Rad18	A	T	6: 112,652,745 (GRCm39)	M284K	probably damaging	Het
Rgs17	T	C	10: 5,792,567 (GRCm39)	K60E	possibly damaging	Het
Sec31a	G	T	5: 100,540,358 (GRCm39)	Q39K	possibly damaging	Het
Slc22a22	G	T	15: 57,117,668 (GRCm39)	T291K	possibly damaging	Het
Sult2a6	C	T	7: 13,956,470 (GRCm39)	E264K	probably damaging	Het
Syne2	C	T	12: 76,121,221 (GRCm39)	R5896C	probably damaging	Het
Tctn1	A	T	5: 122,402,209 (GRCm39)	V75D	probably damaging	Het
Tmem214	A	G	5: 31,031,372 (GRCm39)	K409E	probably damaging	Het
Vcan	T	C	13: 89,853,301 (GRCm39)	Y553C	probably damaging	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het

Other mutations in Ctns

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Ctns	APN	11	73,079,548 (GRCm39)	missense	possibly damaging	0.88
IGL02582:Ctns	APN	11	73,087,478 (GRCm39)	missense	probably benign	0.22
R0103:Ctns	UTSW	11	73,076,137 (GRCm39)	missense	probably damaging	1.00
R1125:Ctns	UTSW	11	73,078,663 (GRCm39)	critical splice acceptor site	probably null
R1333:Ctns	UTSW	11	73,075,823 (GRCm39)	missense	probably benign	0.03
R1422:Ctns	UTSW	11	73,076,072 (GRCm39)	missense	probably damaging	1.00
R1621:Ctns	UTSW	11	73,079,298 (GRCm39)	missense	possibly damaging	0.72
R2104:Ctns	UTSW	11	73,083,907 (GRCm39)	missense	probably benign	0.07
R2427:Ctns	UTSW	11	73,087,512 (GRCm39)	missense	probably damaging	1.00
R4096:Ctns	UTSW	11	73,077,212 (GRCm39)	missense	probably benign	0.11
R4946:Ctns	UTSW	11	73,087,479 (GRCm39)	missense	probably benign
R6220:Ctns	UTSW	11	73,083,954 (GRCm39)	missense	probably benign	0.00
R6307:Ctns	UTSW	11	73,082,559 (GRCm39)	missense	probably benign	0.26
R7064:Ctns	UTSW	11	73,077,218 (GRCm39)	missense	probably benign	0.19
R7402:Ctns	UTSW	11	73,083,903 (GRCm39)	missense	possibly damaging	0.51
R7583:Ctns	UTSW	11	73,079,296 (GRCm39)	missense	probably benign	0.44
R8071:Ctns	UTSW	11	73,075,760 (GRCm39)	missense	probably damaging	1.00
R8072:Ctns	UTSW	11	73,082,572 (GRCm39)	missense	probably benign	0.00
R8726:Ctns	UTSW	11	73,078,613 (GRCm39)	missense	probably benign	0.18
R9098:Ctns	UTSW	11	73,078,561 (GRCm39)	critical splice donor site	probably null
R9203:Ctns	UTSW	11	73,082,563 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTAGGCTCGAAGTTCTTAAGGC -3'
(R):5'- CACAGTTTGTCAAGGCCCAG -3'

Sequencing Primer
(F):5'- CTCGAAGTTCTTAAGGCATGTG -3'
(R):5'- CCCAGAGGTCACTGTGTATGAG -3'

Posted On

2018-08-29