Incidental Mutation 'R4563:Cln3'
ID |
343199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cln3
|
Ensembl Gene |
ENSMUSG00000030720 |
Gene Name |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
Synonyms |
battenin |
MMRRC Submission |
041788-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4563 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126170571-126184991 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 126171730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 346
(S346R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
|
AlphaFold |
Q61124 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032962
AA Change: S370R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032962 Gene: ENSMUSG00000030720 AA Change: S370R
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084589
AA Change: S370R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081636 Gene: ENSMUSG00000030720 AA Change: S370R
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098036
AA Change: S346R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095644 Gene: ENSMUSG00000030720 AA Change: S346R
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
414 |
4.3e-191 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116269
AA Change: S370R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111973 Gene: ENSMUSG00000030720 AA Change: S370R
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
39 |
437 |
1.6e-140 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124177
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139766
|
Meta Mutation Damage Score |
0.7599 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: This gene encodes a transmembrane protein called battenin that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis genes, cause a number of neurodegenerative diseases collectively known as neuronal ceroid lipofuscinoses, the most common of which is juvenile neuronal ceroid-lipofuscinosis (Batten disease). Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] PHENOTYPE: Nullizygous mutations can result in neuronal ceroid lipofuscinosis, degeneration of the retina, cerebral cortex and cerebellum, hypertrophy of hippocampal interneuron populations, gliosis, neurological deficits, and premature death. Homozygotes for a null allele show impaired water and K+ balance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably damaging |
Het |
|
Other mutations in Cln3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01084:Cln3
|
APN |
7 |
126,174,426 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01603:Cln3
|
APN |
7 |
126,174,526 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02216:Cln3
|
APN |
7 |
126,174,514 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02440:Cln3
|
APN |
7 |
126,181,954 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03118:Cln3
|
APN |
7 |
126,174,569 (GRCm39) |
missense |
probably null |
0.00 |
R0326:Cln3
|
UTSW |
7 |
126,182,217 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
R0610:Cln3
|
UTSW |
7 |
126,179,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Cln3
|
UTSW |
7 |
126,182,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R2136:Cln3
|
UTSW |
7 |
126,181,971 (GRCm39) |
missense |
probably benign |
0.00 |
R2202:Cln3
|
UTSW |
7 |
126,178,390 (GRCm39) |
missense |
probably benign |
0.11 |
R3977:Cln3
|
UTSW |
7 |
126,179,308 (GRCm39) |
splice site |
probably benign |
|
R4690:Cln3
|
UTSW |
7 |
126,174,565 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4936:Cln3
|
UTSW |
7 |
126,174,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R5668:Cln3
|
UTSW |
7 |
126,171,558 (GRCm39) |
missense |
probably benign |
0.01 |
R5726:Cln3
|
UTSW |
7 |
126,174,673 (GRCm39) |
missense |
probably null |
0.00 |
R6385:Cln3
|
UTSW |
7 |
126,174,207 (GRCm39) |
missense |
probably null |
1.00 |
R6591:Cln3
|
UTSW |
7 |
126,178,606 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6691:Cln3
|
UTSW |
7 |
126,178,606 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6891:Cln3
|
UTSW |
7 |
126,181,975 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7173:Cln3
|
UTSW |
7 |
126,178,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R7214:Cln3
|
UTSW |
7 |
126,181,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R7426:Cln3
|
UTSW |
7 |
126,180,912 (GRCm39) |
missense |
probably benign |
0.31 |
R7520:Cln3
|
UTSW |
7 |
126,180,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7556:Cln3
|
UTSW |
7 |
126,174,242 (GRCm39) |
missense |
probably damaging |
0.97 |
R7761:Cln3
|
UTSW |
7 |
126,180,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACTCTCGGTGCTTGTCAC -3'
(R):5'- ATCGAGGGCCTACCAAGATGTC -3'
Sequencing Primer
(F):5'- TCACTGGTCTGGGAGAGC -3'
(R):5'- TACCAAGATGTCGGGGTCC -3'
|
Posted On |
2015-09-24 |