Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Cbln1'

23643

Institutional Source

Beutler Lab

Gene Symbol

Cbln1

Ensembl Gene

ENSMUSG00000031654

Gene Name

cerebellin 1 precursor protein

Synonyms

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R0201 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

88195481-88199220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88198741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 43 (T43K)

Ref Sequence

ENSEMBL: ENSMUSP00000126575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034076] [ENSMUST00000169693]

AlphaFold

Q9R171

Predicted Effect

probably benign
Transcript: ENSMUST00000034076
AA Change: T43K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034076
Gene: ENSMUSG00000031654
AA Change: T43K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
C1Q	55	193	6.52e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169693
AA Change: T43K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126575
Gene: ENSMUSG00000031654
AA Change: T43K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
C1Q	55	193	6.52e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211631

Meta Mutation Damage Score

0.0880

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous mutation of this gene results in ataxia, impaired coordination, and abnormal Purkinje cell excitatory postsynaptic currents and innervation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,819,406 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,927,763 (GRCm39)	Q492L	possibly damaging	Het
Aplnr	A	G	2: 84,967,521 (GRCm39)	D182G	probably damaging	Het
Arnt2	G	T	7: 84,010,867 (GRCm39)	S3*	probably null	Het
Asxl3	T	C	18: 22,656,211 (GRCm39)	V1407A	probably benign	Het
Atg13	A	T	2: 91,515,107 (GRCm39)		probably null	Het
Atm	A	T	9: 53,365,579 (GRCm39)		probably benign	Het
Birc6	T	G	17: 74,916,322 (GRCm39)	V1746G	possibly damaging	Het
Cbx5	T	C	15: 103,108,127 (GRCm39)	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,894,854 (GRCm39)	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 26,008,210 (GRCm39)		probably benign	Het
Cd2bp2	A	G	7: 126,793,000 (GRCm39)	Y341H	probably damaging	Het
Cdhr5	T	A	7: 140,856,291 (GRCm39)	D88V	probably damaging	Het
Ces1f	T	A	8: 93,993,957 (GRCm39)	T275S	probably null	Het
Cimip4	T	A	15: 78,263,028 (GRCm39)	M209L	probably damaging	Het
Clca4a	T	C	3: 144,666,478 (GRCm39)	N458S	probably benign	Het
Cog5	A	G	12: 31,889,840 (GRCm39)	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,214,006 (GRCm39)	T305S	probably benign	Het
Csmd3	T	A	15: 47,483,125 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,313 (GRCm39)	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,773,809 (GRCm39)	N195K	probably damaging	Het
Ddx1	A	G	12: 13,273,809 (GRCm39)	V606A	probably damaging	Het
Dip2b	G	A	15: 100,084,028 (GRCm39)	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Enpp1	T	A	10: 24,529,815 (GRCm39)	T608S	probably benign	Het
Fancm	T	C	12: 65,148,406 (GRCm39)	Y674H	probably damaging	Het
Fat4	T	A	3: 38,945,745 (GRCm39)	V1546D	probably damaging	Het
Fsd1	G	A	17: 56,297,522 (GRCm39)	A158T	probably benign	Het
Fzd2	T	A	11: 102,496,948 (GRCm39)	M464K	probably damaging	Het
Gjc2	A	G	11: 59,068,416 (GRCm39)	F22S	possibly damaging	Het
Gria2	T	C	3: 80,615,145 (GRCm39)	Y445C	probably damaging	Het
Hsdl1	T	A	8: 120,292,995 (GRCm39)	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,451,273 (GRCm39)	Y226C	probably damaging	Het
Il16	A	G	7: 83,371,516 (GRCm39)	C97R	probably damaging	Het
Impg1	A	T	9: 80,252,843 (GRCm39)	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,054,888 (GRCm39)	T390A	unknown	Het
Lgi1	A	G	19: 38,289,741 (GRCm39)	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,427,860 (GRCm39)	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,808,547 (GRCm39)		probably benign	Het
Man1c1	A	T	4: 134,367,709 (GRCm39)		probably null	Het
Map1lc3b	A	C	8: 122,317,289 (GRCm39)	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,386,358 (GRCm39)	R124H	probably benign	Het
Mcu	A	G	10: 59,292,499 (GRCm39)	L60P	probably damaging	Het
Mrs2	G	T	13: 25,202,517 (GRCm39)	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Neb	G	A	2: 52,096,890 (GRCm39)		probably benign	Het
Nlrp2	C	T	7: 5,331,328 (GRCm39)	G356D	probably benign	Het
Notch3	A	G	17: 32,375,122 (GRCm39)		probably benign	Het
Npr2	A	C	4: 43,641,617 (GRCm39)	S474R	probably damaging	Het
Nup58	A	G	14: 60,482,065 (GRCm39)	F100L	probably benign	Het
Osbpl6	A	C	2: 76,376,386 (GRCm39)	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,908,360 (GRCm39)	M542L	probably benign	Het
Papln	A	G	12: 83,829,801 (GRCm39)		probably benign	Het
Parpbp	T	C	10: 87,928,758 (GRCm39)	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,575,634 (GRCm39)	A4V	probably benign	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,019,497 (GRCm39)	M182L	probably benign	Het
Por	T	C	5: 135,760,032 (GRCm39)	S240P	possibly damaging	Het
Pramel15	A	T	4: 144,103,843 (GRCm39)		probably benign	Het
Pramel28	T	C	4: 143,691,460 (GRCm39)	E421G	probably damaging	Het
Prss22	A	T	17: 24,215,275 (GRCm39)	V167D	probably damaging	Het
Prss37	A	C	6: 40,493,283 (GRCm39)	L61R	probably damaging	Het
Psmd1	C	T	1: 86,046,338 (GRCm39)	T702M	probably benign	Het
Pxdn	G	T	12: 30,052,430 (GRCm39)	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,281,315 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,510,767 (GRCm39)	V228A	probably damaging	Het
Rnf169	T	C	7: 99,575,210 (GRCm39)	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,332,745 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,379,670 (GRCm39)	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,029,717 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,332,331 (GRCm39)	I222F	probably benign	Het
Spty2d1	G	A	7: 46,647,649 (GRCm39)	R427*	probably null	Het
Ssc5d	A	G	7: 4,947,662 (GRCm39)	T1339A	probably benign	Het
Sspo	A	C	6: 48,432,686 (GRCm39)	E854A	possibly damaging	Het
Stx7	A	G	10: 24,060,977 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,278,693 (GRCm39)		probably benign	Het
Tmem163	T	G	1: 127,596,374 (GRCm39)		probably benign	Het
Tmppe	C	CT	9: 114,233,707 (GRCm39)		probably null	Het
Tmx2	A	G	2: 84,503,426 (GRCm39)	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174 (GRCm38)	L54P	probably damaging	Het
Trim62	A	T	4: 128,796,343 (GRCm39)	Y280F	probably benign	Het
Tssk4	A	T	14: 55,889,016 (GRCm39)	K181*	probably null	Het
Tssk4	A	T	14: 55,889,017 (GRCm39)	K181M	probably damaging	Het
Ubn1	A	G	16: 4,882,478 (GRCm39)	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het

Other mutations in Cbln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5496:Cbln1	UTSW	8	88,198,324 (GRCm39)	missense	possibly damaging	0.73
R6786:Cbln1	UTSW	8	88,198,657 (GRCm39)	missense	probably benign	0.30
R7561:Cbln1	UTSW	8	88,198,624 (GRCm39)	missense	probably benign	0.00
R7638:Cbln1	UTSW	8	88,198,357 (GRCm39)	missense	probably damaging	1.00
R7848:Cbln1	UTSW	8	88,198,328 (GRCm39)	missense	probably damaging	1.00
R7908:Cbln1	UTSW	8	88,198,724 (GRCm39)	missense	probably benign	0.00
R8474:Cbln1	UTSW	8	88,198,673 (GRCm39)	missense	possibly damaging	0.87
R8682:Cbln1	UTSW	8	88,198,735 (GRCm39)	missense	possibly damaging	0.69
R8826:Cbln1	UTSW	8	88,198,420 (GRCm39)	missense	probably benign
R9246:Cbln1	UTSW	8	88,197,048 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGGGAACTCACCTGGTCGAAG -3'
(R):5'- ATCAATAATTCAGAGCGGCGGCGG -3'

Sequencing Primer
(F):5'- CTCACCTGGTCGAAGTAGATG -3'
(R):5'- gggaccaggcagcagag -3'

Posted On

2013-04-16