Mutagenetix > Incidental Mutation

Incidental Mutation 'R5497:Cacng8'

432409

Institutional Source

Beutler Lab

Gene Symbol

Cacng8

Ensembl Gene

ENSMUSG00000053395

Gene Name

calcium channel, voltage-dependent, gamma subunit 8

Synonyms

TARP gamma 8

MMRRC Submission

043058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5497 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

3442558-3464782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3464069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 407 (E407G)

Ref Sequence

ENSEMBL: ENSMUSP00000138618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092351] [ENSMUST00000182222]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000092351
AA Change: E407G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090005
Gene: ENSMUSG00000053395
AA Change: E407G

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	17	222	8.1e-41	PFAM
Pfam:Claudin_2	29	223	6.2e-22	PFAM
low complexity region	244	258	N/A	INTRINSIC
low complexity region	261	287	N/A	INTRINSIC
low complexity region	291	298	N/A	INTRINSIC
low complexity region	316	360	N/A	INTRINSIC
low complexity region	383	401	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178285

Predicted Effect

probably benign
Transcript: ENSMUST00000182222
AA Change: E407G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138618
Gene: ENSMUSG00000053395
AA Change: E407G

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	17	222	8.1e-41	PFAM
Pfam:Claudin_2	29	223	6.8e-24	PFAM
low complexity region	244	258	N/A	INTRINSIC
low complexity region	261	287	N/A	INTRINSIC
low complexity region	291	298	N/A	INTRINSIC
low complexity region	316	360	N/A	INTRINSIC
low complexity region	383	401	N/A	INTRINSIC

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

Validation Efficiency

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 and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted null mutations of this gene result in altered hippocampal AMPA receptor number, distribution and synaptic plasticity. Mice homozygous for one knock-out allele exhibit significantly impaired long term potentiation in hippocampal CA1 synapses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,056,360 (GRCm39)	M800K	probably benign	Het
Abca9	G	A	11: 110,021,518 (GRCm39)	A1064V	probably damaging	Het
Acsm2	A	T	7: 119,172,543 (GRCm39)	T129S	possibly damaging	Het
Adamts9	A	T	6: 92,831,346 (GRCm39)	C755S	probably damaging	Het
Adarb1	T	C	10: 77,161,723 (GRCm39)	D2G	probably damaging	Het
Apaf1	G	A	10: 90,835,518 (GRCm39)	A1098V	probably damaging	Het
Asap3	A	G	4: 135,966,533 (GRCm39)	H537R	probably benign	Het
Atp2a2	C	T	5: 122,596,232 (GRCm39)	C887Y	probably damaging	Het
Atp6v0a1	G	A	11: 100,920,011 (GRCm39)	V215M	probably damaging	Het
Capn8	G	A	1: 182,447,745 (GRCm39)	E535K	probably benign	Het
Cebpe	A	G	14: 54,948,052 (GRCm39)	F264L	probably benign	Het
Ces1c	A	C	8: 93,857,343 (GRCm39)	N79K	possibly damaging	Het
Cfap58	T	G	19: 48,017,548 (GRCm39)	S803A	probably benign	Het
Cpa1	A	G	6: 30,640,729 (GRCm39)	T124A	probably benign	Het
Csmd1	A	G	8: 16,135,195 (GRCm39)	S1654P	probably benign	Het
Dmbt1	A	T	7: 130,665,133 (GRCm39)		probably benign	Het
Eif3e	T	C	15: 43,134,366 (GRCm39)	Y127C	probably damaging	Het
Fhip2a	G	C	19: 57,369,583 (GRCm39)		probably null	Het
Galnt5	T	C	2: 57,915,340 (GRCm39)	M632T	probably damaging	Het
Gja8	A	G	3: 96,827,513 (GRCm39)	S50P	probably damaging	Het
Gon7	A	G	12: 102,720,363 (GRCm39)	S90P	probably benign	Het
Gucy2g	C	T	19: 55,187,133 (GRCm39)	V1096I	probably benign	Het
Gxylt2	A	G	6: 100,764,290 (GRCm39)	N325S	probably benign	Het
H2-Ob	A	G	17: 34,460,144 (GRCm39)	D85G	probably benign	Het
Heatr1	T	A	13: 12,435,945 (GRCm39)	I1161N	possibly damaging	Het
Hjurp	G	A	1: 88,194,042 (GRCm39)	H289Y	possibly damaging	Het
Hsd3b7	A	G	7: 127,401,060 (GRCm39)	Y99C	probably damaging	Het
Ifnar1	T	G	16: 91,302,252 (GRCm39)	Y21D	probably benign	Het
Isoc2b	C	T	7: 4,853,782 (GRCm39)	V131I	probably benign	Het
Klc3	T	C	7: 19,128,595 (GRCm39)	I500V	probably benign	Het
Lrp5	C	A	19: 3,652,319 (GRCm39)	G1184W	probably damaging	Het
Map2k4	A	G	11: 65,626,031 (GRCm39)	I136T	probably damaging	Het
Map3k7	T	C	4: 31,991,719 (GRCm39)	F319S	possibly damaging	Het
Muc5ac	A	G	7: 141,361,380 (GRCm39)	T1564A	probably damaging	Het
Nptx2	A	T	5: 144,492,999 (GRCm39)	D362V	probably damaging	Het
Nutf2-ps1	A	T	19: 53,577,265 (GRCm39)	I52N	probably damaging	Het
Or2aj4	C	T	16: 19,385,080 (GRCm39)	M184I	probably benign	Het
Pkhd1	T	A	1: 20,447,628 (GRCm39)	Y2255F	possibly damaging	Het
Primpol	A	T	8: 47,045,657 (GRCm39)	Y308*	probably null	Het
Retreg2	G	A	1: 75,121,633 (GRCm39)	V219I	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rph3a	T	A	5: 121,080,253 (GRCm39)	E675V	probably benign	Het
Ryr2	A	T	13: 11,720,587 (GRCm39)	M2687K	probably null	Het
Shank2	A	G	7: 143,963,271 (GRCm39)	D293G	probably damaging	Het
Snx6	A	G	12: 54,803,846 (GRCm39)	V154A	probably damaging	Het
Srm	G	T	4: 148,678,566 (GRCm39)	Q264H	probably benign	Het
Styk1	A	T	6: 131,281,670 (GRCm39)	I316N	probably damaging	Het
Syne2	A	G	12: 75,927,163 (GRCm39)	N103S	probably benign	Het
Tas2r105	G	A	6: 131,663,805 (GRCm39)		probably null	Het
Tbcel	T	A	9: 42,363,041 (GRCm39)	M1L	possibly damaging	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Tm9sf3	T	C	19: 41,203,555 (GRCm39)	S574G	probably benign	Het
Usp31	A	T	7: 121,250,824 (GRCm39)	V783E	probably damaging	Het
Vmn2r61	T	A	7: 41,924,906 (GRCm39)	Y487N	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp980	A	G	4: 145,428,017 (GRCm39)	K249E	probably damaging	Het

Other mutations in Cacng8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0865:Cacng8	UTSW	7	3,460,625 (GRCm39)	missense	possibly damaging	0.83
R1387:Cacng8	UTSW	7	3,463,672 (GRCm39)	missense	possibly damaging	0.73
R1892:Cacng8	UTSW	7	3,463,568 (GRCm39)	missense	possibly damaging	0.95
R3847:Cacng8	UTSW	7	3,442,990 (GRCm39)	missense	probably damaging	1.00
R4763:Cacng8	UTSW	7	3,463,508 (GRCm39)	missense	probably damaging	0.99
R4882:Cacng8	UTSW	7	3,460,669 (GRCm39)	missense	probably damaging	1.00
R5085:Cacng8	UTSW	7	3,464,096 (GRCm39)	missense	possibly damaging	0.96
R7034:Cacng8	UTSW	7	3,463,819 (GRCm39)	missense	probably benign	0.00
R7036:Cacng8	UTSW	7	3,463,819 (GRCm39)	missense	probably benign	0.00
R7301:Cacng8	UTSW	7	3,463,937 (GRCm39)	missense	probably benign
R7469:Cacng8	UTSW	7	3,463,621 (GRCm39)	missense	possibly damaging	0.85
R9281:Cacng8	UTSW	7	3,460,608 (GRCm39)	missense	probably damaging	0.96
R9284:Cacng8	UTSW	7	3,459,746 (GRCm39)	nonsense	probably null
R9438:Cacng8	UTSW	7	3,463,919 (GRCm39)	missense	unknown
R9654:Cacng8	UTSW	7	3,443,002 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCATGTACACGCTCAGCC -3'
(R):5'- AAGGGTCCCTGTTTCGGAG -3'

Sequencing Primer
(F):5'- GTCCAAGGGCAGCGTGG -3'
(R):5'- TCCCTGTTTCGGAGCGTGAC -3'

Posted On

2016-10-05