Mutagenetix > Incidental Mutation

Incidental Mutation 'R7473:Cacng1'

579287

Institutional Source

Beutler Lab

Gene Symbol

Cacng1

Ensembl Gene

ENSMUSG00000020722

Gene Name

calcium channel, voltage-dependent, gamma subunit 1

Synonyms

MMRRC Submission

045547-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107594044-107607302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107607018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 67 (D67V)

Ref Sequence

ENSEMBL: ENSMUSP00000021065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021065]

AlphaFold

O70578

Predicted Effect

probably damaging
Transcript: ENSMUST00000021065
AA Change: D67V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021065
Gene: ENSMUSG00000020722
AA Change: D67V

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	6	200	6.3e-12	PFAM
Pfam:Claudin_2	17	202	2.6e-41	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for null mutations display abnormal muscle calcium currents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,965,960 (GRCm39)		probably null	Het
A630095N17Rik	G	A	1: 75,208,675 (GRCm39)	T15I	unknown	Het
Actr1b	A	G	1: 36,748,900 (GRCm39)	V12A	probably benign	Het
Add1	A	G	5: 34,776,697 (GRCm39)	T473A	possibly damaging	Het
Akap11	A	T	14: 78,751,328 (GRCm39)	V353E		Het
Alcam	G	A	16: 52,272,882 (GRCm39)		probably benign	Het
Alpi	A	G	1: 87,027,369 (GRCm39)		probably null	Het
Ap3s2	A	G	7: 79,565,779 (GRCm39)	F49S	probably damaging	Het
Arpc1a	A	G	5: 145,037,886 (GRCm39)	K174E	probably benign	Het
Bbox1	A	T	2: 110,095,843 (GRCm39)	S374T	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bltp2	T	C	11: 78,157,941 (GRCm39)	S368P	possibly damaging	Het
Bmp2k	A	G	5: 97,204,871 (GRCm39)	N402S	probably benign	Het
Bmper	C	A	9: 23,286,926 (GRCm39)	A284D	probably benign	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Bpifb2	A	T	2: 153,723,116 (GRCm39)	H124L	possibly damaging	Het
Bsn	C	T	9: 107,989,449 (GRCm39)	R2101Q	probably damaging	Het
Catsperg1	A	G	7: 28,894,903 (GRCm39)	S565P	probably damaging	Het
Cep126	C	T	9: 8,101,779 (GRCm39)	E252K	probably damaging	Het
Cep55	G	A	19: 38,058,384 (GRCm39)	E326K	probably damaging	Het
Cfap58	T	A	19: 47,963,064 (GRCm39)	Y491*	probably null	Het
Cpeb2	T	C	5: 43,434,848 (GRCm39)	S747P		Het
Cryz	T	A	3: 154,312,157 (GRCm39)	S85T	probably benign	Het
D2hgdh	T	C	1: 93,765,800 (GRCm39)	V367A	probably damaging	Het
Dgkh	T	C	14: 78,836,483 (GRCm39)	N703S	probably benign	Het
Dnah11	T	C	12: 117,866,911 (GRCm39)	S4077G	probably benign	Het
Dnah14	A	G	1: 181,579,704 (GRCm39)	H3079R	probably damaging	Het
Dnah2	T	A	11: 69,382,484 (GRCm39)	T1209S	probably damaging	Het
Dnmt3b	A	G	2: 153,526,370 (GRCm39)	D804G	probably damaging	Het
Ell2	A	G	13: 75,898,154 (GRCm39)	E143G	probably damaging	Het
Exoc2	A	G	13: 31,006,613 (GRCm39)		probably null	Het
Fahd2a	A	T	2: 127,282,376 (GRCm39)	I131N	probably damaging	Het
Fer1l5	A	G	1: 36,460,689 (GRCm39)	N1976D	possibly damaging	Het
Flt1	A	G	5: 147,531,405 (GRCm39)	S853P	probably damaging	Het
Frg2f1	C	T	4: 119,387,990 (GRCm39)	V170I	probably benign	Het
Gcn1	G	A	5: 115,719,863 (GRCm39)	V373M	probably benign	Het
Gm19965	A	G	1: 116,749,602 (GRCm39)	T428A	unknown	Het
Gm4792	A	G	10: 94,129,730 (GRCm39)	I124T	unknown	Het
Grik2	A	T	10: 48,989,618 (GRCm39)	C804S	probably benign	Het
Heatr6	T	A	11: 83,672,217 (GRCm39)	I1075N	probably damaging	Het
Hunk	G	A	16: 90,250,588 (GRCm39)	A211T	probably damaging	Het
Ighe	T	C	12: 113,234,976 (GRCm39)	I395V	probably damaging	Het
Ino80e	A	T	7: 126,456,484 (GRCm39)	S104T	probably damaging	Het
Inpp4a	A	G	1: 37,408,534 (GRCm39)	Y305C	probably benign	Het
Insrr	T	A	3: 87,711,838 (GRCm39)		probably null	Het
Itgae	T	G	11: 73,031,504 (GRCm39)	D1073E	possibly damaging	Het
Klf11	G	T	12: 24,705,141 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,006,630 (GRCm39)	K80M	probably benign	Het
Map2	A	T	1: 66,454,617 (GRCm39)	D1169V	probably damaging	Het
Mpst	G	T	15: 78,297,726 (GRCm39)	C248F	probably damaging	Het
Myo9a	C	A	9: 59,802,527 (GRCm39)	Q2005K	probably benign	Het
Nfatc4	C	T	14: 56,069,421 (GRCm39)	T649I	probably benign	Het
Nmt1	A	G	11: 102,937,226 (GRCm39)	R88G	probably benign	Het
Nqo1	G	A	8: 108,129,729 (GRCm39)		probably benign	Het
Nudt2	T	G	4: 41,477,576 (GRCm39)	M19R	probably benign	Het
Or10a49	T	A	7: 108,467,476 (GRCm39)	K295M	probably damaging	Het
Or12d2	T	A	17: 37,624,522 (GRCm39)	Y251F	probably benign	Het
Or9q2	C	T	19: 13,772,526 (GRCm39)	V150M	probably benign	Het
P2ry1	T	A	3: 60,911,509 (GRCm39)	I216N	probably damaging	Het
Pcx	T	A	19: 4,669,589 (GRCm39)	L823*	probably null	Het
Pkhd1	A	G	1: 20,619,980 (GRCm39)	V880A	probably damaging	Het
Plcb1	A	T	2: 135,186,196 (GRCm39)	N721I	probably damaging	Het
Prdm15	T	C	16: 97,623,046 (GRCm39)	K269E	possibly damaging	Het
Prl7b1	A	G	13: 27,785,996 (GRCm39)	V224A	possibly damaging	Het
Reln	A	G	5: 22,134,125 (GRCm39)	V2601A	probably benign	Het
Rspo4	G	A	2: 151,714,993 (GRCm39)	R210Q	unknown	Het
Slc7a5	A	T	8: 122,615,162 (GRCm39)	D228E	probably benign	Het
Spopfm2	T	A	3: 94,083,509 (GRCm39)	K101*	probably null	Het
Tas2r115	A	G	6: 132,714,214 (GRCm39)	S246P	probably damaging	Het
Tenm4	A	G	7: 96,423,353 (GRCm39)	Y716C	probably damaging	Het
Tgfb3	T	C	12: 86,108,923 (GRCm39)	K269E	possibly damaging	Het
Thoc6	A	G	17: 23,889,841 (GRCm39)	I27T	probably benign	Het
Tigd5	G	A	15: 75,781,748 (GRCm39)	G37S	probably benign	Het
Tmem259	C	T	10: 79,815,506 (GRCm39)	D102N	possibly damaging	Het
Tpo	T	G	12: 30,142,589 (GRCm39)	I712L	probably benign	Het
Ttn	G	A	2: 76,700,892 (GRCm39)	T21M	possibly damaging	Het
Utp20	A	T	10: 88,656,572 (GRCm39)		probably null	Het
Xrcc5	A	G	1: 72,351,748 (GRCm39)	D106G	probably damaging	Het
Xrn1	T	A	9: 95,861,194 (GRCm39)	F451L	probably benign	Het
Zar1l	T	A	5: 150,441,203 (GRCm39)	D141V	probably damaging	Het
Zfp27	A	T	7: 29,595,324 (GRCm39)	C214S	possibly damaging	Het
Znfx1	A	T	2: 166,880,744 (GRCm39)	C1211S	probably damaging	Het

Other mutations in Cacng1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Cacng1	APN	11	107,595,195 (GRCm39)	missense	probably benign
IGL02623:Cacng1	APN	11	107,595,145 (GRCm39)	missense	probably damaging	1.00
R0920:Cacng1	UTSW	11	107,596,682 (GRCm39)	splice site	probably benign
R2042:Cacng1	UTSW	11	107,595,134 (GRCm39)	missense	probably damaging	1.00
R3906:Cacng1	UTSW	11	107,607,118 (GRCm39)	missense	probably benign	0.00
R3908:Cacng1	UTSW	11	107,607,118 (GRCm39)	missense	probably benign	0.00
R3909:Cacng1	UTSW	11	107,607,118 (GRCm39)	missense	probably benign	0.00
R5247:Cacng1	UTSW	11	107,607,105 (GRCm39)	missense	probably benign	0.45
R7158:Cacng1	UTSW	11	107,594,665 (GRCm39)	missense	probably damaging	0.99
R9171:Cacng1	UTSW	11	107,607,060 (GRCm39)	missense	probably damaging	1.00
R9475:Cacng1	UTSW	11	107,607,118 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CTTACAAGATGGAGCTGGAGAC -3'
(R):5'- AGGTTCGTGTGACCCTCTTC -3'

Sequencing Primer
(F):5'- GCTGGAGACAAATGCCCTAGTTTTC -3'
(R):5'- CTTCATCCTGGTGGGCG -3'

Posted On

2019-10-07