Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02349:Cacnb3'

289438

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cacnb3

Ensembl Gene

ENSMUSG00000003352

Gene Name

calcium channel, voltage-dependent, beta 3 subunit

Synonyms

Cchb3, Beta3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

IGL02349

Quality Score

Status

Chromosome

Chromosomal Location

98528721-98542410 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98538842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 159 (K159*)

Ref Sequence

ENSEMBL: ENSMUSP00000155514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003442] [ENSMUST00000003450] [ENSMUST00000109150] [ENSMUST00000230490]

AlphaFold

P54285

Predicted Effect

probably null
Transcript: ENSMUST00000003442
AA Change: K159*

SMART Domains

Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352
AA Change: K159*

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	16	58	8.7e-22	PFAM
SH3	62	125	1.04e0	SMART
GuKc	176	357	1.3e-32	SMART
low complexity region	363	379	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000003450

SMART Domains

Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360

Domain	Start	End	E-Value	Type
coiled coil region	63	93	N/A	INTRINSIC
low complexity region	110	130	N/A	INTRINSIC
low complexity region	143	159	N/A	INTRINSIC
coiled coil region	161	200	N/A	INTRINSIC
low complexity region	210	223	N/A	INTRINSIC
coiled coil region	320	352	N/A	INTRINSIC
DEXDc	409	641	2.95e-65	SMART
HELICc	677	758	2.43e-34	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109150
AA Change: K158*

SMART Domains

Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352
AA Change: K158*

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	15	57	2.2e-21	PFAM
SH3	61	124	1.04e0	SMART
GuKc	175	356	1.3e-32	SMART
low complexity region	362	378	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230064

Predicted Effect

probably null
Transcript: ENSMUST00000230490
AA Change: K159*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230769

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,611,462 (GRCm39)	I484V	probably benign	Het
Acly	C	T	11: 100,410,505 (GRCm39)	E158K	probably benign	Het
Akap3	T	A	6: 126,837,226 (GRCm39)	D3E	probably benign	Het
Alg8	A	G	7: 97,029,101 (GRCm39)	N152S	possibly damaging	Het
Ano7	A	G	1: 93,319,212 (GRCm39)	T323A	probably benign	Het
Bmp1	T	C	14: 70,744,989 (GRCm39)	Y252C	possibly damaging	Het
Capns2	T	A	8: 93,628,690 (GRCm39)	V193D	probably benign	Het
Cct2	A	G	10: 116,889,044 (GRCm39)	I48T	probably benign	Het
Cep152	A	G	2: 125,436,876 (GRCm39)	S555P	probably damaging	Het
Col5a3	T	C	9: 20,683,657 (GRCm39)	E1533G	unknown	Het
Cyp17a1	A	G	19: 46,655,936 (GRCm39)	L451P	probably damaging	Het
Dgcr8	T	C	16: 18,098,170 (GRCm39)	E407G	possibly damaging	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Fgfr2	A	G	7: 129,844,336 (GRCm39)	Y50H	probably damaging	Het
Gars1	T	A	6: 55,025,049 (GRCm39)		probably benign	Het
Gfpt2	A	T	11: 49,698,530 (GRCm39)	I42F	probably benign	Het
Glcci1	A	G	6: 8,558,581 (GRCm39)	K35E	probably damaging	Het
Gpatch1	T	A	7: 35,006,680 (GRCm39)	M163L	probably damaging	Het
Gpr132	T	C	12: 112,816,475 (GRCm39)	Y117C	probably damaging	Het
Ints1	G	A	5: 139,754,223 (GRCm39)	P650S	probably damaging	Het
Itga2b	T	C	11: 102,352,189 (GRCm39)	D464G	probably damaging	Het
Kansl2	C	A	15: 98,427,327 (GRCm39)	G185C	probably damaging	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Macir	A	G	1: 97,573,777 (GRCm39)	L96P	probably damaging	Het
Map3k19	T	A	1: 127,751,506 (GRCm39)	D615V	possibly damaging	Het
Map3k7cl	A	G	16: 87,352,901 (GRCm39)		probably benign	Het
Msto1	A	C	3: 88,818,205 (GRCm39)	S360R	possibly damaging	Het
Myo15b	C	A	11: 115,753,931 (GRCm39)		probably benign	Het
Nhlrc2	T	C	19: 56,580,151 (GRCm39)	V428A	possibly damaging	Het
Or13a28	T	C	7: 140,218,384 (GRCm39)	F257L	probably benign	Het
Or1j19	A	C	2: 36,677,058 (GRCm39)	T174P	possibly damaging	Het
Or51a39	G	A	7: 102,363,333 (GRCm39)	R96C	probably damaging	Het
Or51f2	A	T	7: 102,527,116 (GRCm39)	Y263F	probably benign	Het
Or5p51	A	G	7: 107,444,812 (GRCm39)	S43P	probably benign	Het
Or8b12	T	A	9: 37,657,502 (GRCm39)	M24K	probably benign	Het
Pcm1	G	T	8: 41,741,192 (GRCm39)		probably null	Het
Plekhg3	A	T	12: 76,609,074 (GRCm39)	N149I	probably damaging	Het
Rbp3	C	A	14: 33,677,676 (GRCm39)	H541Q	probably damaging	Het
Rgp1	T	C	4: 43,581,236 (GRCm39)		probably null	Het
Scyl2	A	T	10: 89,493,800 (GRCm39)		probably benign	Het
Tas2r144	A	C	6: 42,193,010 (GRCm39)	H250P	probably benign	Het
Tmppe	T	C	9: 114,234,268 (GRCm39)	V189A	probably benign	Het
Trp53bp1	G	A	2: 121,029,555 (GRCm39)	S1875L	probably damaging	Het
Txnl4a	T	A	18: 80,261,944 (GRCm39)	L60H	probably damaging	Het
Upp2	A	G	2: 58,667,898 (GRCm39)	D217G	probably benign	Het
Vmn2r74	A	G	7: 85,601,724 (GRCm39)	L638P	probably damaging	Het
Vnn1	A	G	10: 23,774,401 (GRCm39)	N148S	possibly damaging	Het
Xrcc1	C	T	7: 24,266,467 (GRCm39)	Q241*	probably null	Het
Zfp990	A	G	4: 145,257,447 (GRCm39)		probably benign	Het

Other mutations in Cacnb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Cacnb3	APN	15	98,539,883 (GRCm39)	nonsense	probably null
IGL01298:Cacnb3	APN	15	98,537,734 (GRCm39)	missense	probably damaging	1.00
IGL01535:Cacnb3	APN	15	98,537,469 (GRCm39)	missense	probably benign	0.02
IGL01537:Cacnb3	APN	15	98,541,301 (GRCm39)	missense	probably damaging	1.00
IGL02304:Cacnb3	APN	15	98,540,263 (GRCm39)	missense	probably damaging	1.00
R0270:Cacnb3	UTSW	15	98,540,440 (GRCm39)	missense	probably damaging	0.98
R1677:Cacnb3	UTSW	15	98,540,455 (GRCm39)	missense	probably damaging	1.00
R3407:Cacnb3	UTSW	15	98,539,068 (GRCm39)	missense	probably benign	0.19
R3408:Cacnb3	UTSW	15	98,539,068 (GRCm39)	missense	probably benign	0.19
R4160:Cacnb3	UTSW	15	98,538,601 (GRCm39)	missense	probably damaging	1.00
R5123:Cacnb3	UTSW	15	98,537,750 (GRCm39)	missense	probably damaging	1.00
R5356:Cacnb3	UTSW	15	98,539,498 (GRCm39)	missense	probably damaging	0.96
R7773:Cacnb3	UTSW	15	98,537,819 (GRCm39)	critical splice donor site	probably null
R8459:Cacnb3	UTSW	15	98,537,393 (GRCm39)	missense	probably damaging	1.00
R8677:Cacnb3	UTSW	15	98,539,931 (GRCm39)	missense	probably damaging	1.00
R8714:Cacnb3	UTSW	15	98,530,262 (GRCm39)	unclassified	probably benign
R9240:Cacnb3	UTSW	15	98,540,486 (GRCm39)	missense	probably benign	0.18
R9260:Cacnb3	UTSW	15	98,537,438 (GRCm39)	missense	probably benign

Posted On

2015-04-16