Mutagenetix > Incidental Mutation

Incidental Mutation 'R4882:Cacng8'

375328

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

042490-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3442558-3464782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3460669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 151 (Y151H)

Ref Sequence

ENSEMBL: ENSMUSP00000138618 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000092351
AA Change: Y151H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090005
Gene: ENSMUSG00000053395
AA Change: Y151H

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 damaging
Transcript: ENSMUST00000182222
AA Change: Y151H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138618
Gene: ENSMUSG00000053395
AA Change: Y151H

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

Meta Mutation Damage Score

0.2625

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (59/60)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,990,112 (GRCm39)	D764G	probably damaging	Het
Adgrg6	T	A	10: 14,310,081 (GRCm39)	I775F	possibly damaging	Het
Ahnak	T	A	19: 8,983,261 (GRCm39)	M1515K	probably damaging	Het
Aqp4	A	G	18: 15,531,311 (GRCm39)	V150A	possibly damaging	Het
Axdnd1	A	T	1: 156,223,129 (GRCm39)		probably null	Het
Bap1	C	T	14: 30,973,678 (GRCm39)		probably benign	Het
BB014433	A	G	8: 15,092,016 (GRCm39)	V279A	probably benign	Het
Caskin1	T	C	17: 24,723,389 (GRCm39)	S726P	probably damaging	Het
Cd200	T	C	16: 45,217,380 (GRCm39)	T104A	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Ceacam13	A	G	7: 17,746,997 (GRCm39)	H150R	probably benign	Het
Cebpzos	T	C	17: 79,227,220 (GRCm39)	Y65H	probably benign	Het
Cgnl1	T	A	9: 71,624,683 (GRCm39)	M630L	probably benign	Het
Dop1b	G	T	16: 93,549,802 (GRCm39)	R247L	possibly damaging	Het
Dqx1	A	G	6: 83,043,069 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,896,174 (GRCm39)	S648G	probably benign	Het
Flnb	A	G	14: 7,929,936 (GRCm38)	D2022G	possibly damaging	Het
Gpr158	T	A	2: 21,830,059 (GRCm39)	N701K	probably damaging	Het
H2-Eb2	C	T	17: 34,553,230 (GRCm39)	H139Y	probably benign	Het
Hbb-bh2	A	T	7: 103,488,455 (GRCm39)	V114E	probably damaging	Het
Ifna9	T	A	4: 88,510,540 (GRCm39)	Q28L	probably benign	Het
Inca1	T	C	11: 70,579,566 (GRCm39)	T188A	probably benign	Het
Irf9	G	T	14: 55,846,496 (GRCm39)		probably benign	Het
Kdm1b	T	A	13: 47,214,369 (GRCm39)	H238Q	probably benign	Het
Lpin1	G	C	12: 16,588,537 (GRCm39)	F851L	probably damaging	Het
Map3k9	C	T	12: 81,770,936 (GRCm39)	R884Q	probably damaging	Het
Mcm3ap	C	T	10: 76,320,495 (GRCm39)	Q818*	probably null	Het
Mcm7	A	T	5: 138,164,173 (GRCm39)		probably null	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nppa	G	T	4: 148,085,544 (GRCm39)	M50I	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Phf14	T	A	6: 11,988,756 (GRCm39)	N665K	possibly damaging	Het
Plekhh3	G	A	11: 101,056,009 (GRCm39)	A47V	probably damaging	Het
Plekhh3	T	A	11: 101,058,764 (GRCm39)	E156V	probably null	Het
Prpf19	T	C	19: 10,876,323 (GRCm39)		probably benign	Het
Rev3l	T	A	10: 39,697,456 (GRCm39)	V651E	possibly damaging	Het
Sgpl1	T	C	10: 60,948,044 (GRCm39)	N171S	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slx4	T	C	16: 3,798,860 (GRCm39)		probably null	Het
Smchd1	T	A	17: 71,665,234 (GRCm39)		probably benign	Het
Snca	A	G	6: 60,792,719 (GRCm39)	V63A	probably benign	Het
Taok3	A	T	5: 117,390,695 (GRCm39)	Q92L	probably damaging	Het
Uhrf1	T	C	17: 56,616,401 (GRCm39)	V73A	probably damaging	Het
Usp38	G	A	8: 81,708,606 (GRCm39)	Q991*	probably null	Het
Vmn2r96	T	A	17: 18,817,866 (GRCm39)	V673E	probably damaging	Het
Zan	A	G	5: 137,436,710 (GRCm39)	Y2048H	unknown	Het
Zfp759	T	A	13: 67,287,354 (GRCm39)	Y302N	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
R5085:Cacng8	UTSW	7	3,464,096 (GRCm39)	missense	possibly damaging	0.96
R5497:Cacng8	UTSW	7	3,464,069 (GRCm39)	missense	probably benign
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'- CCAGAGTGGCAGAATTAGGGAAC -3'
(R):5'- GAAAGCTCCGGTCCCCAG -3'

Sequencing Primer
(F):5'- TAGGGAACTAAAATTAGCTAAGCGG -3'
(R):5'- GGCTAGTTTTGCAGTCACA -3'

Posted On

2016-03-17