Mutagenetix > Incidental Mutation

Incidental Mutation 'R1387:Cacng8'

244124

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

039449-MU

Accession Numbers

Essential gene?

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

Stock #

R1387 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3442558-3464782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3463672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 275 (S275P)

Ref Sequence

ENSEMBL: ENSMUSP00000138618 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092351
AA Change: S275P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090005
Gene: ENSMUSG00000053395
AA Change: S275P

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

possibly damaging
Transcript: ENSMUST00000182222
AA Change: S275P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138618
Gene: ENSMUSG00000053395
AA Change: S275P

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

0.1289

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.4%

Validation Efficiency

99% (82/83)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	T	A	9: 98,068,812 (GRCm39)		noncoding transcript	Het
4930447C04Rik	C	A	12: 72,962,208 (GRCm39)	R52L	probably benign	Het
Abca13	C	T	11: 9,632,085 (GRCm39)	Q5002*	probably null	Het
Acacb	T	C	5: 114,338,573 (GRCm39)	I761T	probably benign	Het
Acap3	G	T	4: 155,983,937 (GRCm39)	L134F	probably benign	Het
Adamtsl1	T	C	4: 86,293,230 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,641,295 (GRCm39)	V3278A	possibly damaging	Het
Agxt2	T	C	15: 10,380,696 (GRCm39)	Y196H	probably damaging	Het
Akap13	T	C	7: 75,235,941 (GRCm39)	V172A	probably damaging	Het
Aqp8	A	G	7: 123,065,891 (GRCm39)	I229V	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Brd10	A	G	19: 29,700,853 (GRCm39)	I812T	probably benign	Het
Catsperg1	T	C	7: 28,906,289 (GRCm39)	Y138C	probably damaging	Het
Ccdc93	T	G	1: 121,418,918 (GRCm39)	L491R	probably damaging	Het
Cntnap2	T	C	6: 47,084,848 (GRCm39)	V1103A	probably benign	Het
Col12a1	C	T	9: 79,588,657 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,750,138 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,182,414 (GRCm39)	A6T	probably damaging	Het
Cyp2j5	T	A	4: 96,522,522 (GRCm39)	S351C	probably damaging	Het
Cyth1	A	G	11: 118,073,172 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,223,309 (GRCm39)		probably benign	Het
Duoxa1	T	A	2: 122,134,468 (GRCm39)	I262F	possibly damaging	Het
Dync2h1	T	C	9: 7,125,816 (GRCm39)	D1930G	probably benign	Het
Eeig1	T	C	2: 32,455,635 (GRCm39)	S254P	possibly damaging	Het
Eno1	C	T	4: 150,332,590 (GRCm39)		probably benign	Het
Fam98a	T	A	17: 75,845,264 (GRCm39)	H494L	unknown	Het
Fcamr	C	A	1: 130,732,379 (GRCm39)	T122K	possibly damaging	Het
Foxq1	A	G	13: 31,743,288 (GRCm39)	D130G	probably damaging	Het
Glb1	T	A	9: 114,249,431 (GRCm39)	W5R	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm5431	T	A	11: 48,785,842 (GRCm39)	R178W	possibly damaging	Het
Gys2	C	T	6: 142,407,009 (GRCm39)	V116M	probably benign	Het
Hif1a	C	T	12: 73,989,066 (GRCm39)	T651I	possibly damaging	Het
Itgb5	T	A	16: 33,720,885 (GRCm39)	Y3*	probably null	Het
Kank3	A	G	17: 34,035,205 (GRCm39)	N7S	possibly damaging	Het
Kdm2b	G	T	5: 123,018,331 (GRCm39)	H981Q	probably damaging	Het
Kdm6a	C	T	X: 18,120,235 (GRCm39)		probably benign	Het
Kif1a	A	T	1: 92,983,672 (GRCm39)		probably benign	Het
Knl1	T	A	2: 118,901,211 (GRCm39)	S971T	possibly damaging	Het
Lcn6	T	C	2: 25,567,149 (GRCm39)	V50A	possibly damaging	Het
Llgl2	G	T	11: 115,743,958 (GRCm39)	V762F	probably damaging	Het
Lpcat4	T	C	2: 112,075,021 (GRCm39)	F342L	probably benign	Het
Lrp2	C	A	2: 69,287,262 (GRCm39)	G3725V	probably damaging	Het
Map1b	T	C	13: 99,569,158 (GRCm39)	T1188A	unknown	Het
Mecp2	G	A	X: 73,079,394 (GRCm39)	P362S	possibly damaging	Het
Mideas	C	A	12: 84,199,705 (GRCm39)	R1005L	probably damaging	Het
Mmp13	T	A	9: 7,282,033 (GRCm39)	F445Y	possibly damaging	Het
Myo5b	G	T	18: 74,777,272 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,116,805 (GRCm39)		probably benign	Het
Nadk2	C	A	15: 9,106,870 (GRCm39)	L384I	possibly damaging	Het
Napg	A	G	18: 63,119,283 (GRCm39)	I98V	possibly damaging	Het
Ncoa1	G	T	12: 4,324,790 (GRCm39)	N1041K	probably benign	Het
Nmu	A	T	5: 76,497,992 (GRCm39)	C64*	probably null	Het
Nobox	T	A	6: 43,284,132 (GRCm39)	K13M	probably damaging	Het
Nos1	T	C	5: 118,091,848 (GRCm39)		probably benign	Het
Nrg2	A	G	18: 36,329,792 (GRCm39)	V141A	probably damaging	Het
Or1b1	T	G	2: 36,994,880 (GRCm39)	I261L	probably benign	Het
Or2aj5	T	C	16: 19,424,777 (GRCm39)	I214V	probably damaging	Het
Or55b4	T	A	7: 102,133,911 (GRCm39)	I139L	probably benign	Het
Phldb2	C	T	16: 45,646,357 (GRCm39)	E71K	possibly damaging	Het
Pik3r4	T	A	9: 105,521,490 (GRCm39)	Y19N	probably damaging	Het
Pkhd1	A	C	1: 20,625,447 (GRCm39)		probably benign	Het
Pogk	G	T	1: 166,227,707 (GRCm39)	P148Q	possibly damaging	Het
Pten	G	T	19: 32,775,496 (GRCm39)	A79S	probably benign	Het
Ptpdc1	A	T	13: 48,739,796 (GRCm39)	V545E	possibly damaging	Het
Qdpr	G	C	5: 45,607,480 (GRCm39)		probably benign	Het
Rhbdd3	T	A	11: 5,054,121 (GRCm39)	H83Q	probably damaging	Het
Rnf6	A	G	5: 146,148,055 (GRCm39)	V321A	probably benign	Het
Rtf1	T	A	2: 119,536,126 (GRCm39)		probably null	Het
Serpina10	C	T	12: 103,594,500 (GRCm39)	V240I	probably benign	Het
Siah2	A	G	3: 58,598,935 (GRCm39)	V101A	possibly damaging	Het
Taok3	A	G	5: 117,344,720 (GRCm39)	K46R	probably damaging	Het
Tcaf2	A	C	6: 42,601,512 (GRCm39)	L849R	probably damaging	Het
Upf3a	T	C	8: 13,842,118 (GRCm39)	F178S	probably damaging	Het
Vmn1r218	G	A	13: 23,321,478 (GRCm39)	G195D	probably damaging	Het
Vmn2r59	A	G	7: 41,695,521 (GRCm39)	V297A	probably damaging	Het
Vmn2r70	T	A	7: 85,207,969 (GRCm39)	Q836L	probably benign	Het
Zfp473	A	G	7: 44,382,365 (GRCm39)	V655A	probably benign	Het
Zic5	A	G	14: 122,696,897 (GRCm39)	S573P	unknown	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
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
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'- CTGGCCGTCAACATCTACATCGAG -3'
(R):5'- TTGTGCAGCGTGAGAAAACCCG -3'

Sequencing Primer
(F):5'- TCTACATCGAGCGCAGC -3'
(R):5'- TGAGAAAAcccgccgagc -3'

Posted On

2014-10-17