Incidental Mutation 'R1422:Ctns'
| ID |
161135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctns
|
| Ensembl Gene |
ENSMUSG00000005949 |
| Gene Name |
cystinosis, nephropathic |
| Synonyms |
|
| MMRRC Submission |
039478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R1422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73074422-73089868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73076072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 321
(Y321C)
|
| 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: Y321C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949
AA Change: Y321C
| 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: Y321C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949
AA Change: Y321C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150407
|
| Meta Mutation Damage Score |
0.8788 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
| Validation Efficiency |
100% (51/51) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
| Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
| Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
| Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
| Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
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 |
|
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 |
|
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'- TGGATACAACCTTTCCTACCAGGGC -3'
(R):5'- TTTGGAGTACCAGTCACAGGCGTG -3'
Sequencing Primer
(F):5'- GGGTCTCCGAAGATCAATGTC -3'
(R):5'- TGTGTGCTTCTGTCTGGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation