Incidental Mutation 'IGL01448:Ctns'
ID84509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctns
Ensembl Gene ENSMUSG00000005949
Gene Namecystinosis, nephropathic
Synonyms
Accession Numbers

NCBI RefSeq: NM_031251; MGI: 1932872

Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #IGL01448
Quality Score
Status
Chromosome11
Chromosomal Location73183596-73199042 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 73188722 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 99 (V99D)
Ref Sequence ENSEMBL: ENSMUSP00000104116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006103] [ENSMUST00000108476]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006103
AA Change: V99D

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949
AA Change: V99D

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000108476
AA Change: V99D

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949
AA Change: V99D

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000130101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150468
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: MGI:2388945
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,405,847 E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,633 probably benign Het
2610303G11Rik T A 9: 98,186,709 noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 E34K probably damaging Het
Alms1 T A 6: 85,677,899 N3142K possibly damaging Het
Anapc7 G A 5: 122,428,213 A62T probably damaging Het
Atp8b3 G A 10: 80,520,422 P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 T181I possibly damaging Het
Celsr2 A G 3: 108,393,239 L2835P probably damaging Het
Dchs1 T C 7: 105,771,927 R429G probably damaging Het
Ddx11 T C 17: 66,134,137 V218A probably damaging Het
Eftud2 G A 11: 102,865,563 probably benign Het
Erich1 G T 8: 14,078,853 T29N possibly damaging Het
Exosc8 T C 3: 54,729,265 E215G probably damaging Het
Fam184a G T 10: 53,698,949 A188E probably benign Het
Fign A G 2: 63,979,688 S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 S33P probably damaging Het
Glb1 A G 9: 114,450,677 probably benign Het
H2-Q1 T C 17: 35,323,461 probably benign Het
Helz2 T C 2: 181,233,977 T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 E32G probably damaging Het
Ints5 C T 19: 8,895,487 P270L possibly damaging Het
Itga7 G T 10: 128,949,468 E847* probably null Het
Kcns3 A C 12: 11,091,643 S352A possibly damaging Het
Kiz A G 2: 146,863,801 K94E probably benign Het
Lin7b C T 7: 45,369,200 V12M probably damaging Het
Myo18b A T 5: 112,811,704 I1409N probably damaging Het
Myo5b A G 18: 74,644,090 H407R probably damaging Het
Nelfa T C 5: 33,898,802 T506A probably damaging Het
Olfr497 T A 7: 108,423,028 Y152* probably null Het
Olfr763 A G 10: 129,011,860 T192A probably damaging Het
Olfr816 A G 10: 129,912,245 I11T possibly damaging Het
Olfr984 A T 9: 40,101,082 M136K probably damaging Het
Pclo A C 5: 14,676,394 probably benign Het
Pes1 G A 11: 3,977,979 E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 probably benign Het
Rapgef2 C T 3: 79,103,962 probably null Het
Rapgef2 T C 3: 79,068,937 M1521V probably benign Het
Reln A G 5: 22,040,405 V735A probably benign Het
Slc2a4 A G 11: 69,945,076 S316P possibly damaging Het
Smarce1 C T 11: 99,210,187 G373E possibly damaging Het
Spata31d1a T A 13: 59,701,559 R918S probably benign Het
St3gal4 T C 9: 35,052,331 K227R probably benign Het
Stra6l T A 4: 45,864,864 probably null Het
Stxbp5l T C 16: 37,215,979 I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 T231A probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tnks A G 8: 34,839,982 Y1138H probably damaging Het
Vezt T A 10: 93,996,857 I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zbed3 A G 13: 95,336,634 K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 Q176L possibly damaging Het
Other mutations in Ctns
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02582:Ctns APN 11 73196652 missense probably benign 0.22
R0103:Ctns UTSW 11 73185311 missense probably damaging 1.00
R1125:Ctns UTSW 11 73187837 critical splice acceptor site probably null
R1333:Ctns UTSW 11 73184997 missense probably benign 0.03
R1422:Ctns UTSW 11 73185246 missense probably damaging 1.00
R1621:Ctns UTSW 11 73188472 missense possibly damaging 0.72
R2104:Ctns UTSW 11 73193081 missense probably benign 0.07
R2427:Ctns UTSW 11 73196686 missense probably damaging 1.00
R4096:Ctns UTSW 11 73186386 missense probably benign 0.11
R4946:Ctns UTSW 11 73196653 missense probably benign
R6220:Ctns UTSW 11 73193128 missense probably benign 0.00
R6307:Ctns UTSW 11 73191733 missense probably benign 0.26
R6744:Ctns UTSW 11 73185285 missense probably damaging 1.00
R7064:Ctns UTSW 11 73186392 missense probably benign 0.19
R7402:Ctns UTSW 11 73193077 missense possibly damaging 0.51
R7583:Ctns UTSW 11 73188470 missense probably benign 0.44
R8072:Ctns UTSW 11 73191746 missense probably benign 0.00
Posted On2013-11-11