Incidental Mutation 'R8072:Ctns'
ID 620298
Institutional Source Beutler Lab
Gene Symbol Ctns
Ensembl Gene ENSMUSG00000005949
Gene Name cystinosis, nephropathic
Synonyms
MMRRC Submission 067507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R8072 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 73074422-73089868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73082572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 53 (T53A)
Ref Sequence ENSEMBL: ENSMUSP00000006103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006103] [ENSMUST00000108476]
AlphaFold P57757
Predicted Effect probably benign
Transcript: ENSMUST00000006103
AA Change: T53A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949
AA Change: T53A

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 probably benign
Transcript: ENSMUST00000108476
AA Change: T53A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949
AA Change: T53A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,574 (GRCm39) S2146P probably benign Het
Acad9 G A 3: 36,129,404 (GRCm39) V160I probably benign Het
Ace T C 11: 105,863,785 (GRCm39) V411A probably damaging Het
Ankrd66 T C 17: 43,854,526 (GRCm39) E2G possibly damaging Het
Apol6 A T 15: 76,935,303 (GRCm39) T191S probably benign Het
Arhgef17 T A 7: 100,531,004 (GRCm39) T352S probably benign Het
Atad2 C T 15: 57,963,374 (GRCm39) R1081Q possibly damaging Het
Atg3 G T 16: 45,008,048 (GRCm39) V297F probably damaging Het
Atp9b A C 18: 80,808,276 (GRCm39) S663A Het
Col10a1 G T 10: 34,266,663 (GRCm39) V16F unknown Het
Col3a1 G A 1: 45,360,734 (GRCm39) V55I unknown Het
Cyp2b23 A T 7: 26,365,431 (GRCm39) I468N probably damaging Het
Dcbld2 G A 16: 58,283,460 (GRCm39) W565* probably null Het
Esco2 A T 14: 66,070,130 (GRCm39) N16K probably benign Het
Fggy A G 4: 95,732,394 (GRCm39) N462D possibly damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Gm4846 T C 1: 166,322,241 (GRCm39) T109A probably benign Het
H2-M11 G T 17: 36,859,026 (GRCm39) V189L probably benign Het
Hmcn1 T A 1: 150,532,256 (GRCm39) T3175S possibly damaging Het
Hook2 G A 8: 85,721,120 (GRCm39) V184M probably benign Het
Hspa4l A T 3: 40,741,178 (GRCm39) D730V probably damaging Het
Igkv4-68 C T 6: 69,282,113 (GRCm39) M19I probably benign Het
Igsf9b C A 9: 27,228,660 (GRCm39) T140N possibly damaging Het
Kcnj1 G A 9: 32,308,593 (GRCm39) R339Q probably damaging Het
Lcn8 T G 2: 25,545,184 (GRCm39) L118W probably damaging Het
Lin28a A G 4: 133,745,453 (GRCm39) F47L possibly damaging Het
Loxl4 T C 19: 42,596,021 (GRCm39) E144G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrgprb1 C A 7: 48,097,895 (GRCm39) E6* probably null Het
Mthfsd A C 8: 121,825,555 (GRCm39) Y339D probably damaging Het
Mup11 A T 4: 60,615,777 (GRCm39) F153L probably damaging Het
Pcdhac2 G A 18: 37,278,717 (GRCm39) V566M probably benign Het
Plpp7 G T 2: 31,986,121 (GRCm39) A100S probably benign Het
Prg4 T C 1: 150,331,774 (GRCm39) T300A possibly damaging Het
Ptprd A G 4: 76,004,273 (GRCm39) F161L probably benign Het
Pwp2 G A 10: 78,007,930 (GRCm39) A875V possibly damaging Het
Rhd A G 4: 134,611,460 (GRCm39) T207A possibly damaging Het
Sh2d3c C T 2: 32,643,150 (GRCm39) R778C probably damaging Het
Slc34a3 A C 2: 25,119,289 (GRCm39) V527G probably benign Het
Smad2 T C 18: 76,420,022 (GRCm39) probably null Het
Sp110 GTACT GTACTACT 1: 85,515,207 (GRCm39) probably benign Het
Spata21 C T 4: 140,839,317 (GRCm39) Q611* probably null Het
Taf4b A G 18: 14,954,585 (GRCm39) T554A probably benign Het
Tial1 T C 7: 128,044,194 (GRCm39) T107A unknown Het
Ubxn6 C A 17: 56,380,195 (GRCm39) R42L probably benign Het
Vmn2r90 A T 17: 17,947,142 (GRCm39) N473I probably damaging Het
Ythdc1 T A 5: 86,969,133 (GRCm39) Y351* probably null Het
Other mutations in Ctns
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6744:Ctns UTSW 11 73,076,111 (GRCm39) missense probably damaging 1.00
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
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'- ATCCTTGAAGAGTGCAGTAAAGCC -3'
(R):5'- CTCCTGGAGTGTCGGAAATC -3'

Sequencing Primer
(F):5'- CCACAGATGTCTAGGATGATGGC -3'
(R):5'- TGTCGGAAATCCCAGAGGTTG -3'
Posted On 2020-01-23