Incidental Mutation 'R2313:Cln5'
| ID |
245386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cln5
|
| Ensembl Gene |
ENSMUSG00000022125 |
| Gene Name |
ceroid-lipofuscinosis, neuronal 5 |
| Synonyms |
A730075N08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R2313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
103307679-103315064 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 103309182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 79
(R79*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022721]
|
| AlphaFold |
Q3UMW8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022721
AA Change: R79*
|
| SMART Domains |
Protein: ENSMUSP00000022721
Gene: ENSMUSG00000022125
AA Change: R79*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:CLN5
|
34 |
332 |
9e-169 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000227117
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants showed loss of vision and accumulation of autofluorescent storage material in the central nervous system. Loss of a subset of GABAergic interneurons was seen in several brain areas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,390,822 (GRCm39) |
D443V |
probably benign |
Het |
| Ankrd53 |
A |
T |
6: 83,740,662 (GRCm39) |
H95L |
probably damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,660 (GRCm39) |
R328S |
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,898 (GRCm39) |
E318G |
possibly damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,285 (GRCm39) |
C239F |
probably damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Pglyrp2 |
A |
T |
17: 32,637,673 (GRCm39) |
D118E |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,312 (GRCm39) |
H316R |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,420,266 (GRCm39) |
I228F |
probably damaging |
Het |
|
| Other mutations in Cln5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Cln5
|
APN |
14 |
103,313,468 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02218:Cln5
|
APN |
14 |
103,313,276 (GRCm39) |
splice site |
probably null |
|
|
PIT4480001:Cln5
|
UTSW |
14 |
103,309,214 (GRCm39) |
nonsense |
probably null |
|
|
R0649:Cln5
|
UTSW |
14 |
103,309,197 (GRCm39) |
missense |
probably benign |
|
|
R2043:Cln5
|
UTSW |
14 |
103,313,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Cln5
|
UTSW |
14 |
103,310,795 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5486:Cln5
|
UTSW |
14 |
103,313,630 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6265:Cln5
|
UTSW |
14 |
103,310,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Cln5
|
UTSW |
14 |
103,313,637 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7361:Cln5
|
UTSW |
14 |
103,313,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Cln5
|
UTSW |
14 |
103,313,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8907:Cln5
|
UTSW |
14 |
103,310,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Cln5
|
UTSW |
14 |
103,313,734 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTTTTGTCCCCGTGTTAAG -3'
(R):5'- TGACTCCCAACATAAAGGTGC -3'
Sequencing Primer
(F):5'- CCCCGTGTTAAGATTGTTAGAAGAGC -3'
(R):5'- CAGCCACTTGATGCTTGTGAACAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation