Mutagenetix > Incidental Mutation

Incidental Mutation 'R9480:Calb1'

716166

Institutional Source

Beutler Lab

Gene Symbol

Calb1

Ensembl Gene

ENSMUSG00000028222

Gene Name

calbindin 1

Synonyms

Brain-2, calbindin-D (28k), CB, CalbindinD28K, calbindin, Calb, Calb-1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R9480 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15881264-15906709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15885608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 60 (S60T)

Ref Sequence

ENSEMBL: ENSMUSP00000029876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029876]

AlphaFold

P12658

Predicted Effect

probably benign
Transcript: ENSMUST00000029876
AA Change: S60T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029876
Gene: ENSMUSG00000028222
AA Change: S60T

Domain	Start	End	E-Value	Type
EFh	15	43	2.37e-3	SMART
EFh	102	130	4.32e-6	SMART
EFh	146	174	2.87e0	SMART
EFh	190	218	2.7e-7	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous targeted mutants show severely impairment in motor coordination and Purkinje cells in the cerebellum show changes of synaptically evoked postsynaptic calcium transients. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,211,889 (GRCm39)	W142R	probably damaging	Het
Abcc6	A	G	7: 45,629,197 (GRCm39)	S1350P	probably damaging	Het
Abraxas2	G	T	7: 132,473,323 (GRCm39)	V84L	probably benign	Het
Adam12	T	A	7: 133,736,470 (GRCm39)	I81F	probably damaging	Het
Adam22	A	G	5: 8,193,077 (GRCm39)	V376A	probably benign	Het
Anapc11	T	A	11: 120,496,176 (GRCm39)	I60N	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,690,420 (GRCm39)	V876E	possibly damaging	Het
Bcar3	C	T	3: 122,277,618 (GRCm39)	R21*	probably null	Het
Ceacam9	A	G	7: 16,457,783 (GRCm39)	T99A	probably damaging	Het
Cemip2	C	A	19: 21,775,622 (GRCm39)	H288Q	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cnot1	T	C	8: 96,497,338 (GRCm39)	D213G	possibly damaging	Het
Col23a1	T	A	11: 51,207,774 (GRCm39)	C105S	unknown	Het
Cxcl2	T	C	5: 91,052,029 (GRCm39)	V45A	possibly damaging	Het
Ddx21	T	C	10: 62,434,652 (GRCm39)	T36A	probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dus2	C	T	8: 106,757,052 (GRCm39)	Q81*	probably null	Het
Fat3	T	C	9: 15,942,703 (GRCm39)	D1223G	probably damaging	Het
Fgf3	G	T	7: 144,396,619 (GRCm39)	R211L	possibly damaging	Het
Galnt17	T	A	5: 130,935,576 (GRCm39)	E369V	probably damaging	Het
Gatad2a	T	C	8: 70,388,459 (GRCm39)	D76G	probably damaging	Het
Gin1	A	G	1: 97,705,198 (GRCm39)	E96G	probably damaging	Het
Gpr55	A	C	1: 85,868,977 (GRCm39)	Y201*	probably null	Het
Hgsnat	T	C	8: 26,442,029 (GRCm39)	N499D	possibly damaging	Het
Hipk2	G	T	6: 38,680,377 (GRCm39)	P988T	probably benign	Het
Hivep1	A	T	13: 42,337,058 (GRCm39)	Q2379L	probably damaging	Het
Kat14	T	A	2: 144,215,745 (GRCm39)	C77S	probably damaging	Het
Klhl25	T	C	7: 75,516,120 (GRCm39)	V342A	probably damaging	Het
Krt35	T	C	11: 99,986,609 (GRCm39)	Q135R	probably benign	Het
Lhfpl2	T	A	13: 94,310,733 (GRCm39)	M1K	probably null	Het
Lipk	T	A	19: 33,999,101 (GRCm39)	L132Q	probably damaging	Het
Lrrc39	T	A	3: 116,359,475 (GRCm39)	C7S	probably benign	Het
Ltb4r2	T	A	14: 56,000,089 (GRCm39)	W237R	probably damaging	Het
Mesp2	A	G	7: 79,461,034 (GRCm39)	I120V	probably damaging	Het
Mfsd6	A	G	1: 52,699,835 (GRCm39)	V771A	unknown	Het
Mtfmt	A	T	9: 65,351,181 (GRCm39)	T243S	possibly damaging	Het
Nlrp12	A	T	7: 3,288,993 (GRCm39)	C506*	probably null	Het
Ntng2	T	A	2: 29,137,997 (GRCm39)	Y19F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
P4hb	A	T	11: 120,463,551 (GRCm39)	V28D	probably damaging	Het
Phkb	T	G	8: 86,684,216 (GRCm39)	S424R	probably benign	Het
Poldip2	T	C	11: 78,411,988 (GRCm39)	L308S	probably damaging	Het
Prkd1	T	A	12: 50,435,283 (GRCm39)	E481D	probably benign	Het
Serping1	C	T	2: 84,600,487 (GRCm39)	S285N	probably benign	Het
Sh2d2a	A	C	3: 87,759,638 (GRCm39)	I350L	probably benign	Het
Siglecf	G	T	7: 43,001,666 (GRCm39)	V159L	possibly damaging	Het
Sspo	A	G	6: 48,470,820 (GRCm39)	N36S	probably damaging	Het
Sytl2	C	T	7: 90,020,718 (GRCm39)	T147M	possibly damaging	Het
Tmc7	A	G	7: 118,141,226 (GRCm39)	F635S	probably benign	Het
Tmco1	C	T	1: 167,157,757 (GRCm39)	L175F		Het
Ttc39d	A	G	17: 80,524,139 (GRCm39)	H266R	probably benign	Het
Usp33	T	G	3: 152,079,086 (GRCm39)	I446R	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zbtb49	T	A	5: 38,358,409 (GRCm39)	T615S	possibly damaging	Het
Zbtb8a	G	T	4: 129,253,875 (GRCm39)	H206Q	probably benign	Het
Zfp180	A	G	7: 23,804,628 (GRCm39)	N349S	probably benign	Het
Zfp345	A	T	2: 150,315,212 (GRCm39)	C108*	probably null	Het
Zfp420	T	A	7: 29,575,497 (GRCm39)	H572Q	probably benign	Het
Zfp423	A	G	8: 88,631,115 (GRCm39)		probably null	Het
Zfp820	T	A	17: 22,037,994 (GRCm39)	T445S	possibly damaging	Het
Zim1	T	C	7: 6,681,050 (GRCm39)	I204M	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Calb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01464:Calb1	APN	4	15,881,485 (GRCm39)	splice site	probably benign
IGL02900:Calb1	APN	4	15,895,695 (GRCm39)	splice site	probably benign
PIT4531001:Calb1	UTSW	4	15,900,925 (GRCm39)	missense	probably damaging	1.00
R0736:Calb1	UTSW	4	15,898,917 (GRCm39)	missense	probably benign	0.43
R1553:Calb1	UTSW	4	15,895,656 (GRCm39)	missense	probably damaging	1.00
R2926:Calb1	UTSW	4	15,904,302 (GRCm39)	missense	probably damaging	1.00
R4623:Calb1	UTSW	4	15,895,721 (GRCm39)	intron	probably benign
R5463:Calb1	UTSW	4	15,885,656 (GRCm39)	missense	probably benign
R5586:Calb1	UTSW	4	15,900,811 (GRCm39)	missense	probably benign	0.00
R6630:Calb1	UTSW	4	15,885,637 (GRCm39)	missense	probably benign
R8105:Calb1	UTSW	4	15,900,767 (GRCm39)	critical splice acceptor site	probably null
R8254:Calb1	UTSW	4	15,898,926 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAAACAAGGCTGTATGGC -3'
(R):5'- TGCATACTAGGGTCCAGACTAC -3'

Sequencing Primer
(F):5'- AGGCTGTATGGCATAATAAAATAACC -3'
(R):5'- TACTAGGGTCCAGACTACATTAAAC -3'

Posted On

2022-07-18