Mutagenetix > Incidental Mutation

Incidental Mutation 'R9284:Cacng8'

703812

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

Accession Numbers

Essential gene?

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

Stock #

R9284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3442558-3464782 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 3459746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 112 (Y112*)

Ref Sequence

ENSEMBL: ENSMUSP00000090005 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000092351
AA Change: Y112*

SMART Domains

Protein: ENSMUSP00000090005
Gene: ENSMUSG00000053395
AA Change: Y112*

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

probably null
Transcript: ENSMUST00000182222
AA Change: Y112*

SMART Domains

Protein: ENSMUSP00000138618
Gene: ENSMUSG00000053395
AA Change: Y112*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	G	4: 144,504,191 (GRCm39)	Q320P	probably damaging	Het
Adamtsl2	G	A	2: 26,994,055 (GRCm39)		probably benign	Het
Adgrl3	T	A	5: 81,657,568 (GRCm39)		probably benign	Het
Angptl3	A	G	4: 98,919,480 (GRCm39)	Q80R	probably benign	Het
Atmin	G	A	8: 117,684,019 (GRCm39)	V560M	probably benign	Het
Bbx	A	G	16: 50,045,023 (GRCm39)	S513P	probably benign	Het
Catsperg2	A	G	7: 29,405,006 (GRCm39)		probably null	Het
Ccdc12	A	C	9: 110,540,203 (GRCm39)	T131P	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cep95	A	T	11: 106,704,624 (GRCm39)	H493L	probably benign	Het
Cntnap1	A	G	11: 101,068,137 (GRCm39)	T50A	probably benign	Het
Cyp3a16	T	A	5: 145,377,304 (GRCm39)	I428F	probably damaging	Het
Dnhd1	G	T	7: 105,301,091 (GRCm39)	L149F	probably damaging	Het
Dop1b	T	A	16: 93,557,196 (GRCm39)	V497E	probably damaging	Het
Erich3	A	T	3: 154,404,308 (GRCm39)	N55I		Het
Fbxw26	A	T	9: 109,550,962 (GRCm39)		probably benign	Het
Gm4841	A	G	18: 60,403,895 (GRCm39)	I66T	probably damaging	Het
Gp5	G	A	16: 30,127,094 (GRCm39)	L527F	probably damaging	Het
Gpatch2l	G	A	12: 86,290,883 (GRCm39)	G22D	probably benign	Het
Isg20l2	T	A	3: 87,838,991 (GRCm39)	D67E	probably benign	Het
Itgae	G	A	11: 73,012,752 (GRCm39)	V695I	probably benign	Het
Itpr2	A	T	6: 146,256,174 (GRCm39)	N1006K	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Lama3	C	T	18: 12,583,541 (GRCm39)	Q710*	probably null	Het
Loxhd1	C	T	18: 77,501,826 (GRCm39)	A1715V	probably damaging	Het
Map3k20	C	T	2: 72,228,755 (GRCm39)	Q325*	probably null	Het
Med1	A	T	11: 98,046,366 (GRCm39)	S1477T	unknown	Het
Mr1	T	A	1: 155,013,274 (GRCm39)	H101L	probably benign	Het
Mtor	T	A	4: 148,543,537 (GRCm39)	S405T	probably benign	Het
Nme9	G	C	9: 99,338,321 (GRCm39)		probably null	Het
Nom1	T	A	5: 29,647,532 (GRCm39)	I589N	probably damaging	Het
Nr6a1	A	T	2: 38,638,890 (GRCm39)	D148E	probably damaging	Het
Nup160	T	C	2: 90,548,375 (GRCm39)	V1006A	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,416 (GRCm39)	I174N	possibly damaging	Het
Or2aj4	A	G	16: 19,385,357 (GRCm39)	I92T	probably damaging	Het
Or4d10b	A	T	19: 12,036,273 (GRCm39)	L281Q	probably damaging	Het
Or5d37	T	A	2: 87,924,278 (GRCm39)	M1L	probably benign	Het
Or6c200-ps1	G	A	10: 128,869,821 (GRCm39)	P297S	probably damaging	Het
Phyhd1	G	T	2: 30,156,879 (GRCm39)	G7*	probably null	Het
Pla2g4e	T	C	2: 120,004,730 (GRCm39)		probably benign	Het
Ppfia3	A	G	7: 45,011,222 (GRCm39)	C3R	probably damaging	Het
Pramel1	T	C	4: 143,123,769 (GRCm39)	V148A	probably benign	Het
Ptpdc1	A	T	13: 48,740,167 (GRCm39)	D421E	probably benign	Het
Rapgef2	A	T	3: 79,000,010 (GRCm39)	D579E	probably damaging	Het
Rbpj	T	G	5: 53,810,724 (GRCm39)	V448G	probably damaging	Het
Rif1	T	C	2: 51,998,564 (GRCm39)	V1067A	probably benign	Het
Scfd1	A	T	12: 51,439,024 (GRCm39)	N162I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sp110	A	T	1: 85,507,363 (GRCm39)		probably null	Het
Sparcl1	A	T	5: 104,236,345 (GRCm39)	C469*	probably null	Het
Srebf2	G	A	15: 82,066,357 (GRCm39)	R635Q	probably benign	Het
Stard7	T	G	2: 127,132,956 (GRCm39)	S250A	probably damaging	Het
Stxbp5l	A	C	16: 37,028,442 (GRCm39)	Y540*	probably null	Het
Tlr5	T	C	1: 182,801,377 (GRCm39)	V227A	probably benign	Het
Tmem132b	T	C	5: 125,864,711 (GRCm39)	I939T	possibly damaging	Het
Tnik	G	T	3: 28,593,570 (GRCm39)	S142I	unknown	Het
Trim6	A	G	7: 103,882,116 (GRCm39)	T482A	probably damaging	Het
Tssk5	A	G	15: 76,257,168 (GRCm39)	I238T	probably benign	Het
Ugt2b35	A	G	5: 87,156,140 (GRCm39)	T411A	probably benign	Het
Zc2hc1b	C	A	10: 13,043,562 (GRCm39)	R111L	probably benign	Het
Zfp266	A	T	9: 20,411,300 (GRCm39)	C292*	probably null	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
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
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'- CTACCTTTCAATCAGCCCGGAG -3'
(R):5'- ATGAGCATCTGGACCTGGATTG -3'

Sequencing Primer
(F):5'- TTTCAATCAGCCCGGAGAGAGC -3'
(R):5'- CTGGATTGGCTAGGAAACTAATCTAG -3'

Posted On

2022-03-25