Mutagenetix > Incidental Mutation

Incidental Mutation 'R4761:Cacng3'

356884

Institutional Source

Beutler Lab

Gene Symbol

Cacng3

Ensembl Gene

ENSMUSG00000066189

Gene Name

calcium channel, voltage-dependent, gamma subunit 3

Synonyms

MMRRC Submission

042402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122270967-122368616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122367887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 256 (T256S)

Ref Sequence

ENSEMBL: ENSMUSP00000081664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084615] [ENSMUST00000182095] [ENSMUST00000182563]

AlphaFold

Q9JJV5

Predicted Effect

probably benign
Transcript: ENSMUST00000084615
AA Change: T256S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000081664
Gene: ENSMUSG00000066189
AA Change: T256S

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	6	196	1.3e-52	PFAM
Pfam:Claudin_2	18	196	1.4e-22	PFAM
low complexity region	223	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182095

SMART Domains

Protein: ENSMUSP00000138755
Gene: ENSMUSG00000066189

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	6	79	1.2e-15	PFAM
Pfam:Claudin_2	18	169	3.1e-23	PFAM
Pfam:PMP22_Claudin	72	168	2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182563

SMART Domains

Protein: ENSMUSP00000138495
Gene: ENSMUSG00000066189

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	6	99	1.4e-23	PFAM
Pfam:Claudin_2	18	112	2.6e-11	PFAM

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (69/69)

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 type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]
PHENOTYPE: Male mice homozygous for disruptions in this gene have elevated cholesterol and HDL levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,820,165 (GRCm39)	D195G	possibly damaging	Het
Abcc8	G	A	7: 45,762,499 (GRCm39)	R1221C	probably damaging	Het
Adra1a	T	A	14: 66,964,880 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,497,010 (GRCm39)	M98L	probably benign	Het
Alpk3	A	G	7: 80,753,916 (GRCm39)	Q1632R	probably damaging	Het
Arhgap24	G	T	5: 102,812,080 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,308,504 (GRCm39)	*40W	probably null	Het
Bdkrb2	A	T	12: 105,554,537 (GRCm39)	M17L	probably benign	Het
C4bp	T	C	1: 130,581,158 (GRCm39)	K117R	possibly damaging	Het
Cep63	T	C	9: 102,464,240 (GRCm39)		probably benign	Het
Ces2b	T	A	8: 105,563,193 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,564,592 (GRCm39)	D1696V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcst1	A	T	3: 89,264,860 (GRCm39)	M296K	possibly damaging	Het
Ehbp1l1	G	A	19: 5,769,875 (GRCm39)	P476L	possibly damaging	Het
Enpp1	A	G	10: 24,517,849 (GRCm39)	V858A	possibly damaging	Het
Ermp1	T	A	19: 29,623,656 (GRCm39)	E55D	probably benign	Het
Eya1	G	A	1: 14,373,045 (GRCm39)	L25F	probably damaging	Het
Foxn2	T	A	17: 88,770,136 (GRCm39)		probably null	Het
Gabrb3	A	T	7: 57,415,250 (GRCm39)	T107S	probably damaging	Het
Gm26678	A	T	3: 54,540,564 (GRCm39)		noncoding transcript	Het
Gm7897	G	T	1: 173,657,536 (GRCm39)		noncoding transcript	Het
Gm9789	A	T	16: 88,954,915 (GRCm39)	Y8F	unknown	Het
Gsta3	A	T	1: 21,330,381 (GRCm39)	T78S	probably benign	Het
H2-Ab1	A	G	17: 34,486,474 (GRCm39)	N178D	probably damaging	Het
Herc6	G	A	6: 57,639,885 (GRCm39)	V1000I	probably benign	Het
Hrnr	A	C	3: 93,230,062 (GRCm39)	K100T	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Iqca1l	A	G	5: 24,756,981 (GRCm39)	V232A	probably benign	Het
Kmt2a	C	A	9: 44,760,421 (GRCm39)	R509L	probably damaging	Het
Lefty1	T	A	1: 180,765,190 (GRCm39)	C253S	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Mfsd9	T	C	1: 40,813,635 (GRCm39)	K227E	possibly damaging	Het
Mrps2	C	G	2: 28,359,946 (GRCm39)	H268D	probably benign	Het
Mrps27	T	A	13: 99,548,739 (GRCm39)	S292T	probably benign	Het
Ncaph	T	C	2: 126,948,036 (GRCm39)	D683G	probably benign	Het
Nlrc3	A	T	16: 3,781,514 (GRCm39)	S632T	probably damaging	Het
Nsun6	T	C	2: 15,034,872 (GRCm39)	T198A	possibly damaging	Het
Oasl2	C	T	5: 115,037,836 (GRCm39)	H78Y	probably benign	Het
Or8b54	T	C	9: 38,687,133 (GRCm39)	V194A	probably benign	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdgfrb	C	A	18: 61,212,772 (GRCm39)	S892Y	probably damaging	Het
Phf8-ps	A	T	17: 33,286,172 (GRCm39)	V210D	probably damaging	Het
Por	T	G	5: 135,754,784 (GRCm39)		probably benign	Het
Ppp2r5e	A	T	12: 75,640,035 (GRCm39)	V22D	possibly damaging	Het
Prcp	A	G	7: 92,566,933 (GRCm39)		probably null	Het
Ptchd3	A	T	11: 121,727,224 (GRCm39)	N366I	possibly damaging	Het
Rprd1b	A	G	2: 157,889,890 (GRCm39)	E4G	probably damaging	Het
Semp2l1	A	T	1: 32,585,588 (GRCm39)	S107R	possibly damaging	Het
Serpinb6d	C	A	13: 33,855,250 (GRCm39)	S308Y	probably damaging	Het
Slc12a7	T	C	13: 73,961,708 (GRCm39)	V1026A	probably benign	Het
Slc17a7	G	A	7: 44,820,408 (GRCm39)	V313I	probably benign	Het
Slc35c1	T	A	2: 92,289,168 (GRCm39)	M113L	probably damaging	Het
Smgc	A	G	15: 91,729,717 (GRCm39)	T178A	possibly damaging	Het
Spef2	A	T	15: 9,653,040 (GRCm39)	W914R	probably damaging	Het
Srfbp1	C	A	18: 52,621,638 (GRCm39)	P233Q	probably damaging	Het
Swt1	A	C	1: 151,276,853 (GRCm39)	C508G	probably benign	Het
Tex22	T	C	12: 113,052,386 (GRCm39)	V148A	possibly damaging	Het
Tle7	A	T	8: 110,836,753 (GRCm39)	D213V	probably damaging	Het
Tpd52	G	A	3: 9,028,933 (GRCm39)	P37L	probably damaging	Het
Utp25	T	C	1: 192,796,230 (GRCm39)	Y145C	probably damaging	Het
Vmn1r197	A	T	13: 22,512,174 (GRCm39)	M32L	probably benign	Het
Vmn2r100	T	C	17: 19,741,630 (GRCm39)	F114S	possibly damaging	Het
Xdh	T	A	17: 74,217,262 (GRCm39)	I669F	possibly damaging	Het
Zfp940	G	A	7: 29,545,578 (GRCm39)	R110C	probably benign	Het

Other mutations in Cacng3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Cacng3	APN	7	122,271,169 (GRCm39)	missense	possibly damaging	0.81
IGL02361:Cacng3	APN	7	122,271,169 (GRCm39)	missense	possibly damaging	0.81
IGL02576:Cacng3	APN	7	122,271,133 (GRCm39)	missense	probably benign	0.00
IGL03264:Cacng3	APN	7	122,271,180 (GRCm39)	missense	probably damaging	1.00
R0200:Cacng3	UTSW	7	122,271,008 (GRCm39)	nonsense	probably null
R0411:Cacng3	UTSW	7	122,367,795 (GRCm39)	missense	probably damaging	0.98
R0662:Cacng3	UTSW	7	122,367,582 (GRCm39)	missense	probably damaging	1.00
R1565:Cacng3	UTSW	7	122,367,624 (GRCm39)	missense	probably damaging	0.99
R2902:Cacng3	UTSW	7	122,353,750 (GRCm39)	missense	possibly damaging	0.70
R4807:Cacng3	UTSW	7	122,353,732 (GRCm39)	missense	probably benign	0.05
R5847:Cacng3	UTSW	7	122,361,532 (GRCm39)	missense	possibly damaging	0.61
R6759:Cacng3	UTSW	7	122,361,547 (GRCm39)	critical splice donor site	probably null
R7817:Cacng3	UTSW	7	122,367,822 (GRCm39)	missense	probably damaging	1.00
R8344:Cacng3	UTSW	7	122,367,569 (GRCm39)	missense	possibly damaging	0.62
R9485:Cacng3	UTSW	7	122,361,435 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCATCGCGGAAATTGTGGGC -3'
(R):5'- TCAGAGGTCAGCTCAGACAG -3'

Sequencing Primer
(F):5'- CGCCGTGCACATCTATATCGAG -3'
(R):5'- AGCTCAGACAGGCGTGGTAC -3'

Posted On

2015-11-11