Mutagenetix > Incidental Mutation

Incidental Mutation 'R0411:Cacng3'

36661

Institutional Source

Beutler Lab

Gene Symbol

Cacng3

Ensembl Gene

ENSMUSG00000066189

Gene Name

calcium channel, voltage-dependent, gamma subunit 3

Synonyms

MMRRC Submission

038613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122270967-122368616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122367795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 225 (P225L)

Ref Sequence

ENSEMBL: ENSMUSP00000081664 (fasta)

Gene Model

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

AlphaFold

Q9JJV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084615
AA Change: P225L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081664
Gene: ENSMUSG00000066189
AA Change: P225L

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

0.1275

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,053,834 (GRCm39)		probably benign	Het
6030469F06Rik	A	T	12: 31,234,730 (GRCm39)		noncoding transcript	Het
Acad11	T	C	9: 103,993,495 (GRCm39)	F541L	probably damaging	Het
Acin1	G	T	14: 54,884,231 (GRCm39)	R92S	probably damaging	Het
Appl1	A	G	14: 26,662,213 (GRCm39)	S490P	probably benign	Het
Aqp9	C	A	9: 71,037,726 (GRCm39)	V184L	probably benign	Het
Arih1	A	T	9: 59,393,266 (GRCm39)	I122N	possibly damaging	Het
Bmi1	T	C	2: 18,687,983 (GRCm39)		probably benign	Het
Bmpr1a	G	A	14: 34,137,834 (GRCm39)	T391I	possibly damaging	Het
Cacna1s	A	G	1: 136,041,041 (GRCm39)	K1256E	probably damaging	Het
Cd101	A	T	3: 100,925,843 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,390,294 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,928,016 (GRCm39)	I258T	probably damaging	Het
Cfap251	C	T	5: 123,428,117 (GRCm39)	T538M	probably damaging	Het
Cma2	A	G	14: 56,211,135 (GRCm39)		probably benign	Het
Ddost	T	A	4: 138,036,964 (GRCm39)	S176T	probably benign	Het
Ddx19b	A	T	8: 111,750,596 (GRCm39)		probably null	Het
Dmxl2	A	G	9: 54,286,223 (GRCm39)	I2681T	probably damaging	Het
Ern1	C	T	11: 106,289,412 (GRCm39)	E964K	probably benign	Het
Exoc1l	G	T	5: 76,648,334 (GRCm39)	V47L	possibly damaging	Het
Galntl5	C	T	5: 25,425,172 (GRCm39)	R430C	probably benign	Het
Gga3	A	G	11: 115,478,259 (GRCm39)	L511P	probably damaging	Het
Gria2	C	T	3: 80,618,165 (GRCm39)		probably benign	Het
Hmbs	A	T	9: 44,252,949 (GRCm39)	L28*	probably null	Het
Iffo2	A	G	4: 139,330,532 (GRCm39)	E220G	probably damaging	Het
Ifi30	A	G	8: 71,217,562 (GRCm39)		probably benign	Het
Irf2	T	A	8: 47,299,096 (GRCm39)	C297S	probably benign	Het
Izumo4	T	C	10: 80,538,918 (GRCm39)	Y94H	probably damaging	Het
Klhdc9	A	G	1: 171,187,353 (GRCm39)	V215A	probably benign	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,580,955 (GRCm39)	C513S	probably damaging	Het
Lyg1	A	T	1: 37,988,977 (GRCm39)	M81K	possibly damaging	Het
Maip1	T	G	1: 57,454,852 (GRCm39)	W279G	probably damaging	Het
Myo7a	T	C	7: 97,721,144 (GRCm39)	T1263A	probably benign	Het
Naa15	T	A	3: 51,373,060 (GRCm39)	I701N	possibly damaging	Het
Ncoa3	A	G	2: 165,910,463 (GRCm39)	N1292S	probably benign	Het
Necab2	T	A	8: 120,180,979 (GRCm39)		probably benign	Het
Nfatc1	T	A	18: 80,741,257 (GRCm39)	I234F	possibly damaging	Het
Olfm1	G	A	2: 28,098,223 (GRCm39)	R95K	possibly damaging	Het
Or10ag56	A	G	2: 87,139,402 (GRCm39)	T90A	probably benign	Het
Or10ak8	A	T	4: 118,773,823 (GRCm39)	N280K	possibly damaging	Het
Otoa	T	C	7: 120,755,750 (GRCm39)		probably null	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pard6g	A	G	18: 80,160,337 (GRCm39)	D150G	probably damaging	Het
Pax5	A	G	4: 44,609,783 (GRCm39)	L215S	probably damaging	Het
Pja2	A	T	17: 64,594,516 (GRCm39)		probably benign	Het
Plk4	T	A	3: 40,765,654 (GRCm39)		probably benign	Het
Polr1a	A	T	6: 71,955,405 (GRCm39)	H1687L	possibly damaging	Het
Ptcd2	G	A	13: 99,479,899 (GRCm39)	L41F	probably damaging	Het
Ropn1	T	A	16: 34,490,334 (GRCm39)	S62T	probably benign	Het
Setd1a	T	C	7: 127,395,223 (GRCm39)		probably benign	Het
Setdb1	T	C	3: 95,234,997 (GRCm39)	D902G	probably damaging	Het
Sik3	T	A	9: 46,120,068 (GRCm39)	L719Q	probably damaging	Het
Slc36a1	G	T	11: 55,123,333 (GRCm39)	V433F	probably benign	Het
Slc6a3	T	C	13: 73,705,169 (GRCm39)	V220A	possibly damaging	Het
Slc6a5	A	T	7: 49,561,539 (GRCm39)	R24W	probably damaging	Het
Smox	G	T	2: 131,362,564 (GRCm39)	R281L	probably benign	Het
Sulf2	G	T	2: 165,935,436 (GRCm39)	H226N	probably damaging	Het
Syne2	C	T	12: 76,106,358 (GRCm39)		probably null	Het
Tenm3	C	T	8: 48,740,826 (GRCm39)	S1210N	possibly damaging	Het
Tns1	A	T	1: 73,964,920 (GRCm39)	V1237E	probably damaging	Het
Trf	C	T	9: 103,094,700 (GRCm39)	V92M	probably damaging	Het
Ttn	A	G	2: 76,539,717 (GRCm39)	V34423A	possibly damaging	Het
Vmn2r118	A	G	17: 55,918,021 (GRCm39)		probably benign	Het
Vmn2r19	A	G	6: 123,286,703 (GRCm39)	Y112C	probably damaging	Het
Zfp326	G	T	5: 106,026,641 (GRCm39)	A15S	possibly damaging	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
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
R4761:Cacng3	UTSW	7	122,367,887 (GRCm39)	missense	probably benign	0.05
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'- GGGCTAAGCAACATCATCGGCATC -3'
(R):5'- ATGGTCCCGGTCAGAGTTGAGAAG -3'

Sequencing Primer
(F):5'- TATCTCAGCCAATGCTGGAG -3'
(R):5'- TTGCTGATGGGAGAAAGGTC -3'

Posted On

2013-05-09