Mutagenetix > Incidental Mutations

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

Is this an essential gene?

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

Stock #

R0411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122670492-122769393 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122768572 bp

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]

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: 63,896,491		probably benign	Het
6030469F06Rik	A	T	12: 31,184,731		noncoding transcript	Het
Acad11	T	C	9: 104,116,296	F541L	probably damaging	Het
Acin1	G	T	14: 54,646,774	R92S	probably damaging	Het
Appl1	A	G	14: 26,940,256	S490P	probably benign	Het
Aqp9	C	A	9: 71,130,444	V184L	probably benign	Het
Arih1	A	T	9: 59,485,983	I122N	possibly damaging	Het
Bmi1	T	C	2: 18,683,172		probably benign	Het
Bmpr1a	G	A	14: 34,415,877	T391I	possibly damaging	Het
Cacna1s	A	G	1: 136,113,303	K1256E	probably damaging	Het
Cd101	A	T	3: 101,018,527		probably null	Het
Cd55	A	G	1: 130,462,557		probably benign	Het
Cenpe	T	C	3: 135,222,255	I258T	probably damaging	Het
Cma2	A	G	14: 55,973,678		probably benign	Het
Ddost	T	A	4: 138,309,653	S176T	probably benign	Het
Ddx19b	A	T	8: 111,023,964		probably null	Het
Dmxl2	A	G	9: 54,378,939	I2681T	probably damaging	Het
Ern1	C	T	11: 106,398,586	E964K	probably benign	Het
Galntl5	C	T	5: 25,220,174	R430C	probably benign	Het
Gga3	A	G	11: 115,587,433	L511P	probably damaging	Het
Gm7271	G	T	5: 76,500,487	V47L	possibly damaging	Het
Gria2	C	T	3: 80,710,858		probably benign	Het
Hmbs	A	T	9: 44,341,652	L28*	probably null	Het
Iffo2	A	G	4: 139,603,221	E220G	probably damaging	Het
Ifi30	A	G	8: 70,764,918		probably benign	Het
Irf2	T	A	8: 46,846,061	C297S	probably benign	Het
Izumo4	T	C	10: 80,703,084	Y94H	probably damaging	Het
Klhdc9	A	G	1: 171,359,785	V215A	probably benign	Het
Kmt2a	T	C	9: 44,819,964		probably benign	Het
Kmt2c	A	T	5: 25,375,957	C513S	probably damaging	Het
Lyg1	A	T	1: 37,949,896	M81K	possibly damaging	Het
Maip1	T	G	1: 57,415,693	W279G	probably damaging	Het
Myo7a	T	C	7: 98,071,937	T1263A	probably benign	Het
Naa15	T	A	3: 51,465,639	I701N	possibly damaging	Het
Ncoa3	A	G	2: 166,068,543	N1292S	probably benign	Het
Necab2	T	A	8: 119,454,240		probably benign	Het
Nfatc1	T	A	18: 80,698,042	I234F	possibly damaging	Het
Olfm1	G	A	2: 28,208,211	R95K	possibly damaging	Het
Olfr1118	A	G	2: 87,309,058	T90A	probably benign	Het
Olfr1329	A	T	4: 118,916,626	N280K	possibly damaging	Het
Otoa	T	C	7: 121,156,527		probably null	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,748,449		probably benign	Het
Pard6g	A	G	18: 80,117,122	D150G	probably damaging	Het
Pax5	A	G	4: 44,609,783	L215S	probably damaging	Het
Pja2	A	T	17: 64,287,521		probably benign	Het
Plk4	T	A	3: 40,811,219		probably benign	Het
Polr1a	A	T	6: 71,978,421	H1687L	possibly damaging	Het
Ptcd2	G	A	13: 99,343,391	L41F	probably damaging	Het
Ropn1	T	A	16: 34,669,964	S62T	probably benign	Het
Setd1a	T	C	7: 127,796,051		probably benign	Het
Setdb1	T	C	3: 95,327,686	D902G	probably damaging	Het
Sik3	T	A	9: 46,208,770	L719Q	probably damaging	Het
Slc36a1	G	T	11: 55,232,507	V433F	probably benign	Het
Slc6a3	T	C	13: 73,557,050	V220A	possibly damaging	Het
Slc6a5	A	T	7: 49,911,791	R24W	probably damaging	Het
Smox	G	T	2: 131,520,644	R281L	probably benign	Het
Sulf2	G	T	2: 166,093,516	H226N	probably damaging	Het
Syne2	C	T	12: 76,059,584		probably null	Het
Tenm3	C	T	8: 48,287,791	S1210N	possibly damaging	Het
Tns1	A	T	1: 73,925,761	V1237E	probably damaging	Het
Trf	C	T	9: 103,217,501	V92M	probably damaging	Het
Ttn	A	G	2: 76,709,373	V34423A	possibly damaging	Het
Vmn2r118	A	G	17: 55,611,021		probably benign	Het
Vmn2r19	A	G	6: 123,309,744	Y112C	probably damaging	Het
Wdr66	C	T	5: 123,290,054	T538M	probably damaging	Het
Zfp326	G	T	5: 105,878,775	A15S	possibly damaging	Het

Other mutations in Cacng3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Cacng3	APN	7	122671946	missense	possibly damaging	0.81
IGL02361:Cacng3	APN	7	122671946	missense	possibly damaging	0.81
IGL02576:Cacng3	APN	7	122671910	missense	probably benign	0.00
IGL03264:Cacng3	APN	7	122671957	missense	probably damaging	1.00
R0200:Cacng3	UTSW	7	122671785	nonsense	probably null
R0662:Cacng3	UTSW	7	122768359	missense	probably damaging	1.00
R1565:Cacng3	UTSW	7	122768401	missense	probably damaging	0.99
R2902:Cacng3	UTSW	7	122754527	missense	possibly damaging	0.70
R4761:Cacng3	UTSW	7	122768664	missense	probably benign	0.05
R4807:Cacng3	UTSW	7	122754509	missense	probably benign	0.05
R5847:Cacng3	UTSW	7	122762309	missense	possibly damaging	0.61
R6759:Cacng3	UTSW	7	122762324	critical splice donor site	probably null
R7817:Cacng3	UTSW	7	122768599	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