Mutagenetix > Incidental Mutation

Incidental Mutation 'R2043:Cln5'

225240

Institutional Source

Beutler Lab

Gene Symbol

Cln5

Ensembl Gene

ENSMUSG00000022125

Gene Name

ceroid-lipofuscinosis, neuronal 5

Synonyms

A730075N08Rik

MMRRC Submission

040050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R2043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103307679-103315064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103313380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 211 (S211P)

Ref Sequence

ENSEMBL: ENSMUSP00000022721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022720] [ENSMUST00000022721]

AlphaFold

Q3UMW8

Predicted Effect

probably benign
Transcript: ENSMUST00000022720

SMART Domains

Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124

Domain	Start	End	E-Value	Type
FBOX	39	79	5.92e-7	SMART
low complexity region	235	247	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000022721
AA Change: S211P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022721
Gene: ENSMUSG00000022125
AA Change: S211P

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:CLN5	34	332	9e-169	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227117

Meta Mutation Damage Score

0.8836

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (47/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	G	8: 25,486,669 (GRCm39)		probably null	Het
Adnp2	A	C	18: 80,171,541 (GRCm39)	M956R	probably damaging	Het
Aldh1l1	T	A	6: 90,534,314 (GRCm39)	D36E	probably benign	Het
Ankmy1	T	C	1: 92,804,249 (GRCm39)		probably benign	Het
Apaf1	T	C	10: 90,872,890 (GRCm39)	D718G	probably damaging	Het
Ascc3	C	T	10: 50,576,616 (GRCm39)	P857L	probably damaging	Het
Atp8b1	T	C	18: 64,738,271 (GRCm39)	K60R	possibly damaging	Het
Bub1	A	T	2: 127,646,140 (GRCm39)	C947S	probably damaging	Het
Cacna1c	C	T	6: 118,573,049 (GRCm39)	G2017D	probably benign	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc110	T	C	8: 46,395,864 (GRCm39)	M585T	probably benign	Het
Cep85l	A	T	10: 53,234,224 (GRCm39)	N51K	possibly damaging	Het
Cftr	T	C	6: 18,320,934 (GRCm39)	F1415L	probably benign	Het
Dcaf5	A	T	12: 80,386,991 (GRCm39)	D378E	probably benign	Het
Dhx57	A	G	17: 80,560,509 (GRCm39)		probably benign	Het
Dsn1	G	A	2: 156,847,273 (GRCm39)	S55L	possibly damaging	Het
Eif5b	T	C	1: 38,080,900 (GRCm39)	F747S	probably damaging	Het
Entrep3	A	G	3: 89,092,874 (GRCm39)	Y251C	probably damaging	Het
Fbxo25	A	G	8: 13,971,905 (GRCm39)	I86V	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glcci1	T	A	6: 8,582,590 (GRCm39)	I130K	probably damaging	Het
Gm5424	A	G	10: 61,906,990 (GRCm39)		noncoding transcript	Het
Gsdma	G	A	11: 98,557,046 (GRCm39)	V54M	possibly damaging	Het
H3c3	A	G	13: 23,929,278 (GRCm39)	F68S	probably damaging	Het
Heatr3	T	A	8: 88,874,322 (GRCm39)		probably benign	Het
Hspa13	A	G	16: 75,555,156 (GRCm39)	L310S	probably benign	Het
Il6st	A	C	13: 112,616,753 (GRCm39)	Q100P	probably benign	Het
Ly6g6e	G	A	17: 35,296,840 (GRCm39)	R27Q	possibly damaging	Het
Mis18bp1	A	T	12: 65,196,192 (GRCm39)	I524K	probably damaging	Het
Myo18a	T	C	11: 77,714,189 (GRCm39)	I761T	probably damaging	Het
Mypop	T	C	7: 18,734,944 (GRCm39)		probably benign	Het
Or51ag1	A	G	7: 103,156,150 (GRCm39)	M1T	probably null	Het
Pcdh20	G	A	14: 88,704,591 (GRCm39)	T903I	probably benign	Het
Pdk4	A	T	6: 5,485,502 (GRCm39)	C396S	probably benign	Het
Piwil2	A	G	14: 70,628,919 (GRCm39)	V699A	probably benign	Het
Plekha5	T	C	6: 140,498,530 (GRCm39)		probably benign	Het
Ralgapa1	T	A	12: 55,723,811 (GRCm39)	I1572L	probably damaging	Het
Rasgrf2	T	A	13: 92,167,351 (GRCm39)	M241L	possibly damaging	Het
Ryr1	C	T	7: 28,759,056 (GRCm39)	R3374H	probably damaging	Het
Slc24a2	A	T	4: 86,914,882 (GRCm39)	M519K	probably damaging	Het
Smg9	T	A	7: 24,105,001 (GRCm39)	I67N	possibly damaging	Het
Spart	G	A	3: 55,034,969 (GRCm39)	A452T	probably damaging	Het
Ush2a	T	A	1: 188,648,453 (GRCm39)	F4686Y	probably benign	Het
Zfp146	T	C	7: 29,861,664 (GRCm39)	K126R	possibly damaging	Het
Zfp386	T	A	12: 116,022,781 (GRCm39)	D131E	probably benign	Het
Zfp423	T	C	8: 88,509,246 (GRCm39)	D366G	probably damaging	Het
Zfp729a	T	C	13: 67,769,291 (GRCm39)	K313E	probably damaging	Het
Zfp955a	G	A	17: 33,461,527 (GRCm39)	H202Y	possibly 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
R2313:Cln5	UTSW	14	103,309,182 (GRCm39)	nonsense	probably null
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'- TTCTGGTCTTAATGGCATTGGAAC -3'
(R):5'- AAATACGGTCTGAAGGGGCC -3'

Sequencing Primer
(F):5'- ATGGCATTGGAACTTTTTATAAACAG -3'
(R):5'- ATGGCCAAAGCAAGAGTCTTGTTTC -3'

Posted On

2014-08-25