Mutagenetix > Incidental Mutation

Incidental Mutation 'R9648:Cln5'

726895

Institutional Source

Beutler Lab

Gene Symbol

Cln5

Ensembl Gene

ENSMUSG00000022125

Gene Name

ceroid-lipofuscinosis, neuronal 5

Synonyms

A730075N08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R9648 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103307679-103315064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103313734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 329 (T329A)

Ref Sequence

ENSEMBL: ENSMUSP00000022721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022720] [ENSMUST00000022721] [ENSMUST00000145693]

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 benign
Transcript: ENSMUST00000022721
AA Change: T329A

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022721
Gene: ENSMUSG00000022125
AA Change: T329A

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: ENSMUST00000145693

SMART Domains

Protein: ENSMUSP00000116044
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 benign
Transcript: ENSMUST00000227117

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,609,172 (GRCm39)	V798M	probably damaging	Het
Adprhl1	A	G	8: 13,273,245 (GRCm39)	L1171P	probably benign	Het
Atp2b2	C	T	6: 113,780,707 (GRCm39)		probably null	Het
Birc6	A	T	17: 74,938,696 (GRCm39)	N2701Y	probably damaging	Het
Bptf	A	T	11: 106,943,720 (GRCm39)	N2720K	probably damaging	Het
Ccpg1	T	C	9: 72,919,312 (GRCm39)	L309S	probably damaging	Het
Cep295	T	C	9: 15,234,903 (GRCm39)	N2126S	probably benign	Het
Cmas	T	A	6: 142,716,935 (GRCm39)	L276M	probably benign	Het
Cnbd1	A	C	4: 19,098,142 (GRCm39)		probably null	Het
Depdc1b	A	G	13: 108,460,444 (GRCm39)	N18S	probably damaging	Het
Dido1	C	A	2: 180,302,468 (GRCm39)	R1812I	probably damaging	Het
Dnajc2	G	A	5: 21,968,478 (GRCm39)	T403M	probably damaging	Het
Dnm1	T	A	2: 32,230,455 (GRCm39)	I120F	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Foxa2	T	A	2: 147,887,799 (GRCm39)	K12M	probably damaging	Het
Fut7	T	A	2: 25,315,336 (GRCm39)	V198E	probably damaging	Het
Gramd1b	A	T	9: 40,244,793 (GRCm39)	V205E	probably damaging	Het
Gtf2i	T	A	5: 134,284,770 (GRCm39)	N510Y	probably damaging	Het
H2-M1	T	C	17: 36,982,248 (GRCm39)	I118V	probably benign	Het
Icam1	T	C	9: 20,937,697 (GRCm39)	F245L	probably damaging	Het
Ifna16	C	T	4: 88,595,060 (GRCm39)	A12T	probably benign	Het
Il12rb2	T	C	6: 67,333,587 (GRCm39)	T231A	probably benign	Het
Klrb1a	T	C	6: 128,586,816 (GRCm39)		probably null	Het
Mc3r	T	C	2: 172,091,639 (GRCm39)	L287P	probably damaging	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Msh3	A	G	13: 92,478,757 (GRCm39)	V404A	probably benign	Het
Myrf	T	A	19: 10,188,010 (GRCm39)	I896F	possibly damaging	Het
Nup205	T	A	6: 35,202,746 (GRCm39)	Y1318N	probably benign	Het
Or2t47	A	T	11: 58,442,313 (GRCm39)	Y251N	probably damaging	Het
Or7g17	T	A	9: 18,768,748 (GRCm39)	S267T	possibly damaging	Het
Osbp	T	A	19: 11,943,590 (GRCm39)	W96R	probably damaging	Het
Pcf11	A	G	7: 92,307,318 (GRCm39)	L950P	probably damaging	Het
Pcnt	T	C	10: 76,190,089 (GRCm39)	T2816A	probably benign	Het
Pde7a	A	G	3: 19,310,966 (GRCm39)	Y87H	probably damaging	Het
Pip4k2c	T	C	10: 127,041,569 (GRCm39)	H163R	probably damaging	Het
Pld1	T	A	3: 28,174,900 (GRCm39)	L846Q	probably damaging	Het
Plppr2	T	A	9: 21,852,379 (GRCm39)	S113T	probably benign	Het
Pms1	A	T	1: 53,314,284 (GRCm39)	L87Q	probably damaging	Het
Rasa1	A	G	13: 85,436,690 (GRCm39)	S113P	possibly damaging	Het
Rexo1	T	A	10: 80,385,540 (GRCm39)	H506L	probably damaging	Het
Rps12	T	C	10: 23,662,777 (GRCm39)	I6V	probably benign	Het
Rsph3a	T	C	17: 8,171,395 (GRCm39)	M170T	probably benign	Het
Rsrc2	A	G	5: 123,877,688 (GRCm39)	S156P	unknown	Het
Rtp3	T	C	9: 110,815,586 (GRCm39)	T260A	probably benign	Het
Sall2	A	G	14: 52,551,224 (GRCm39)	F657S	probably damaging	Het
Serpind1	T	A	16: 17,154,318 (GRCm39)	N48K	probably benign	Het
Slc38a11	T	A	2: 65,188,484 (GRCm39)	D95V	probably benign	Het
Slc5a4a	T	C	10: 76,002,608 (GRCm39)	C255R	probably damaging	Het
Slc6a12	C	A	6: 121,335,661 (GRCm39)	Y330*	probably null	Het
Slco1b2	T	C	6: 141,602,655 (GRCm39)	Y203H	possibly damaging	Het
Spdye4a	C	T	5: 143,210,848 (GRCm39)	R74K	probably benign	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stat1	A	T	1: 52,165,695 (GRCm39)	D97V	probably damaging	Het
Stk11ip	A	G	1: 75,505,585 (GRCm39)	E418G	probably damaging	Het
Tcf20	T	C	15: 82,739,876 (GRCm39)	D525G	probably damaging	Het
Tcstv7b	C	T	13: 120,702,495 (GRCm39)	P97L	possibly damaging	Het
Tlr2	A	T	3: 83,745,840 (GRCm39)	L81Q	probably damaging	Het
Tmt1a3	C	T	15: 100,232,857 (GRCm39)	A16V	probably benign	Het
Trim50	T	A	5: 135,395,475 (GRCm39)	I277N	probably damaging	Het
Ttn	T	A	2: 76,619,806 (GRCm39)	Q15954L	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,960,494 (GRCm39)	K592R	probably benign	Het
Xirp2	A	G	2: 67,346,599 (GRCm39)	I2947V	probably benign	Het
Zan	A	C	5: 137,405,992 (GRCm39)	F3746V	unknown	Het
Zfp418	G	A	7: 7,185,171 (GRCm39)	S378N	probably benign	Het
Zfp518b	C	G	5: 38,830,240 (GRCm39)	Q588H	probably damaging	Het
Zfp959	G	A	17: 56,204,212 (GRCm39)	R83K	possibly damaging	Het
Znrf3	G	A	11: 5,231,915 (GRCm39)	R437C	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
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

Predicted Primers

PCR Primer
(F):5'- ACAAGACTCTTGCTTTGGCC -3'
(R):5'- CCAGTACAATTACGGTTTCTGCTAC -3'

Sequencing Primer
(F):5'- CCTTCAGACCGTATTTGTCA -3'
(R):5'- CTCTGCAAGAGTCTTGAAATGTCCAG -3'

Posted On

2022-10-06