Mutagenetix > Incidental Mutation

Incidental Mutation 'R8808:Cacng4'

672231

Institutional Source

Beutler Lab

Gene Symbol

Cacng4

Ensembl Gene

ENSMUSG00000020723

Gene Name

calcium channel, voltage-dependent, gamma subunit 4

Synonyms

MMRRC Submission

068644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107623183-107685383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107685209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 28 (I28F)

Ref Sequence

ENSEMBL: ENSMUSP00000021066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021066]

AlphaFold

Q9JJV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021066
AA Change: I28F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021066
Gene: ENSMUSG00000020723
AA Change: I28F

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	6	202	7.9e-42	PFAM
Pfam:Claudin_2	18	204	2e-21	PFAM
low complexity region	224	256	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (60/63)

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. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutant mice are viable, fertile and phenotypically normal with no ataxic gait or absence seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,775,874 (GRCm39)	P1688S	probably benign	Het
4933412E24Rik	T	C	15: 59,887,919 (GRCm39)	T174A	probably benign	Het
Actl10	T	A	2: 154,395,068 (GRCm39)	L340Q	probably damaging	Het
Adra1d	T	C	2: 131,403,397 (GRCm39)	E231G	probably damaging	Het
Agt	T	A	8: 125,291,028 (GRCm39)	D93V	probably benign	Het
Als2cl	G	T	9: 110,718,282 (GRCm39)	R341L	possibly damaging	Het
Ankrd63	G	T	2: 118,533,549 (GRCm39)	A124E	unknown	Het
Aqp8	T	C	7: 123,065,922 (GRCm39)	L239P	probably damaging	Het
Arhgef11	A	G	3: 87,593,336 (GRCm39)	E85G	probably damaging	Het
Cc2d1a	T	C	8: 84,861,599 (GRCm39)	D741G	probably damaging	Het
Cct8l1	T	A	5: 25,722,210 (GRCm39)	N308K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Chrna5	T	A	9: 54,905,348 (GRCm39)	D53E	probably benign	Het
Dap3	A	T	3: 88,835,514 (GRCm39)		probably null	Het
Disp2	A	G	2: 118,620,489 (GRCm39)	Y407C	probably damaging	Het
Dnah1	A	G	14: 31,008,771 (GRCm39)	M2001T	probably benign	Het
Dysf	C	G	6: 83,996,466 (GRCm39)		probably benign	Het
Eif2ak1	A	T	5: 143,816,264 (GRCm39)	K187N	probably damaging	Het
Ethe1	T	C	7: 24,294,496 (GRCm39)	S100P	probably damaging	Het
Fam186a	G	C	15: 99,842,604 (GRCm39)	I1213M	possibly damaging	Het
Gbp9	A	G	5: 105,232,875 (GRCm39)	F259S	probably damaging	Het
Heatr5b	G	A	17: 79,072,834 (GRCm39)	H1610Y	possibly damaging	Het
Hk2	T	A	6: 82,705,747 (GRCm39)	D852V	probably benign	Het
Hmcn1	T	A	1: 150,531,570 (GRCm39)	Q3233L	possibly damaging	Het
Htt	T	A	5: 35,046,791 (GRCm39)	V2369E	probably benign	Het
Il9	C	A	13: 56,629,942 (GRCm39)	E35*	probably null	Het
Itga8	A	T	2: 12,137,328 (GRCm39)	C933*	probably null	Het
Jak3	A	G	8: 72,138,164 (GRCm39)	K872E	possibly damaging	Het
Kcnmb2	A	C	3: 32,252,266 (GRCm39)	M156L	probably benign	Het
Kdm4a	C	T	4: 117,999,480 (GRCm39)	V981I	unknown	Het
Klhl38	A	T	15: 58,178,225 (GRCm39)	*582R	probably null	Het
Map3k19	A	G	1: 127,751,866 (GRCm39)	F495S	probably damaging	Het
Mpeg1	T	A	19: 12,440,443 (GRCm39)	W634R	probably damaging	Het
Mrpl4	T	A	9: 20,918,978 (GRCm39)	Y202N	possibly damaging	Het
Nme8	A	G	13: 19,859,978 (GRCm39)	V214A	probably damaging	Het
Or4k36	A	T	2: 111,146,239 (GRCm39)	R138S	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Pcdhgb6	A	G	18: 37,876,451 (GRCm39)	I386M	possibly damaging	Het
Pitpnm1	T	A	19: 4,162,356 (GRCm39)	V1062E	possibly damaging	Het
Plekhm3	G	A	1: 64,922,355 (GRCm39)	R607W	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prap1	C	A	7: 139,676,982 (GRCm39)	H141Q	probably damaging	Het
Prep	T	A	10: 44,971,252 (GRCm39)	Y187*	probably null	Het
Rergl	T	G	6: 139,478,865 (GRCm39)	E3A	probably benign	Het
Rnf19a	A	T	15: 36,242,021 (GRCm39)	S673T	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
St18	G	A	1: 6,880,826 (GRCm39)	E440K	probably damaging	Het
Syne1	T	A	10: 5,309,074 (GRCm39)	Q645L	probably damaging	Het
Tmcc1	C	A	6: 116,111,099 (GRCm39)	V61L		Het
Tmcc1	A	T	6: 116,111,098 (GRCm39)	V61E		Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem201	C	A	4: 149,814,138 (GRCm39)	R154L	possibly damaging	Het
Tmem71	G	A	15: 66,410,655 (GRCm39)	A239V	possibly damaging	Het
Tpgs2	A	G	18: 25,284,275 (GRCm39)	W78R	probably damaging	Het
Tssc4	T	C	7: 142,623,436 (GRCm39)	V22A	unknown	Het
Ttn	T	A	2: 76,723,128 (GRCm39)	E6496D	unknown	Het
Ttn	T	A	2: 76,697,539 (GRCm39)	L227F		Het
Vps50	G	T	6: 3,522,338 (GRCm39)	G169*	probably null	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zfp407	T	C	18: 84,361,185 (GRCm39)	K1703R	probably benign	Het
Zfp616	T	G	11: 73,976,523 (GRCm39)	C931G	probably damaging	Het
Zfp949	G	A	9: 88,451,417 (GRCm39)	C329Y	probably damaging	Het
Zswim5	T	A	4: 116,822,887 (GRCm39)	D452E	probably benign	Het

Other mutations in Cacng4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Cacng4	APN	11	107,685,196 (GRCm39)	missense	probably damaging	1.00
R1687:Cacng4	UTSW	11	107,627,585 (GRCm39)	missense	probably benign	0.10
R5057:Cacng4	UTSW	11	107,685,197 (GRCm39)	missense	probably damaging	1.00
R5607:Cacng4	UTSW	11	107,625,610 (GRCm39)	missense	probably damaging	1.00
R8678:Cacng4	UTSW	11	107,625,925 (GRCm39)	missense	probably damaging	0.98
R8765:Cacng4	UTSW	11	107,625,976 (GRCm39)	missense	probably damaging	1.00
R9751:Cacng4	UTSW	11	107,626,019 (GRCm39)	missense	probably damaging	1.00
R9765:Cacng4	UTSW	11	107,632,809 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTTGTGTCTCGCGTGGAGC -3'
(R):5'- GGAAAATCCCGGCCGTGG -3'

Sequencing Primer
(F):5'- ACTCCCCGGGGCAATGTG -3'
(R):5'- GCGCCTCGGAGTTTGAG -3'

Posted On

2021-04-30