Incidental Mutation 'R2427:Ctns'
| ID |
250284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctns
|
| Ensembl Gene |
ENSMUSG00000005949 |
| Gene Name |
cystinosis, nephropathic |
| Synonyms |
|
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73074422-73089868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73087512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 5
(W5R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006103]
[ENSMUST00000006105]
[ENSMUST00000108476]
[ENSMUST00000131927]
|
| AlphaFold |
P57757 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006103
AA Change: W5R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949
AA Change: W5R
| 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: ENSMUST00000006105
|
| SMART Domains |
Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
6 |
264 |
3.4e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108476
AA Change: W5R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949
AA Change: W5R
| 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: ENSMUST00000131927
|
| SMART Domains |
Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
6 |
109 |
3.7e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150468
|
| Meta Mutation Damage Score |
0.8571 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
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 |
|
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 |
|
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'- CAGTTGCTGGACAGTACCAAAC -3'
(R):5'- TGATGCCTGTGAGGTCAGAG -3'
Sequencing Primer
(F):5'- GTTGCTGGACAGTACCAAACCTTTG -3'
(R):5'- GGTGTGGAGGAGAAACCCTTTATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation