Incidental Mutation 'R1621:Ctns'
| ID |
174672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctns
|
| Ensembl Gene |
ENSMUSG00000005949 |
| Gene Name |
cystinosis, nephropathic |
| Synonyms |
|
| MMRRC Submission |
039658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R1621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73074422-73089868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73079298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 140
(V140A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006103]
[ENSMUST00000108476]
|
| AlphaFold |
P57757 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006103
AA Change: V140A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949
AA Change: V140A
| 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 |
possibly damaging
Transcript: ENSMUST00000108476
AA Change: V140A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949
AA Change: V140A
| 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 |
noncoding transcript
Transcript: ENSMUST00000130101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150468
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
| Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
| Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
| Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
| Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
| Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
| Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
| Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
| Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
| Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
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 |
|
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 |
|
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'- ACCCAAGACCCTTGTGGCAATG -3'
(R):5'- ATGGGGACTTCCTCCCAAACCTTC -3'
Sequencing Primer
(F):5'- CCCTTGTGGCAATGTGAAGAC -3'
(R):5'- CCTTCACCAAATGCATCCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation