Mutagenetix > Incidental Mutation

Incidental Mutation 'R2024:Gabra5'

220282

Institutional Source

Beutler Lab

Gene Symbol

Gabra5

Ensembl Gene

ENSMUSG00000055078

Gene Name

gamma-aminobutyric acid type A receptor subunit alpha 5

Synonyms

A230018I05Rik

MMRRC Submission

040033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57057420-57159807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57138698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 117 (R117C)

Ref Sequence

ENSEMBL: ENSMUSP00000145685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068456] [ENSMUST00000085240] [ENSMUST00000206382] [ENSMUST00000206734]

AlphaFold

Q8BHJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000068456
AA Change: R117C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: R117C

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Neur_chan_LBD	49	257	3e-50	PFAM
Pfam:Neur_chan_memb	264	375	2.3e-33	PFAM
low complexity region	407	419	N/A	INTRINSIC
transmembrane domain	432	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085240

SMART Domains

Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neur_chan_LBD	37	243	5.1e-51	PFAM
Pfam:Neur_chan_memb	250	468	1.8e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206382
AA Change: R117C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206734
AA Change: R117C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice having disruptions in this gene display abnormalities in hearing and in ear structure. Subtle abnormalities in learning and in conditioning have also been reported. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,259,680 (GRCm39)	D280G	probably damaging	Het
Atosa	A	G	9: 74,917,672 (GRCm39)	D757G	probably damaging	Het
Azi2	C	T	9: 117,878,390 (GRCm39)	R77*	probably null	Het
Chd8	T	C	14: 52,468,950 (GRCm39)	D556G	probably benign	Het
Cit	T	C	5: 116,085,983 (GRCm39)	M849T	probably damaging	Het
Cit	T	C	5: 116,143,899 (GRCm39)	S1923P	probably damaging	Het
Col17a1	T	A	19: 47,639,185 (GRCm39)	H1120L	probably benign	Het
Col6a5	G	T	9: 105,814,193 (GRCm39)	H606Q	unknown	Het
Dnajc2	A	C	5: 21,981,788 (GRCm39)	H45Q	probably damaging	Het
Dpp6	A	G	5: 27,914,457 (GRCm39)	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062 (GRCm39)	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Emc1	G	A	4: 139,088,257 (GRCm39)	E342K	possibly damaging	Het
Fam3c	T	C	6: 22,329,592 (GRCm39)	D45G	probably benign	Het
Fchsd2	A	C	7: 100,847,740 (GRCm39)	D210A	possibly damaging	Het
Flg	T	A	3: 93,186,722 (GRCm39)	M58K	probably damaging	Het
Gm6741	G	A	17: 91,544,309 (GRCm39)	S24N	probably benign	Het
Grin2a	T	C	16: 9,462,107 (GRCm39)	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,419,981 (GRCm39)	V642G	possibly damaging	Het
Herc6	C	T	6: 57,560,317 (GRCm39)	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,206,530 (GRCm39)	S371P	probably damaging	Het
Idua	C	T	5: 108,828,600 (GRCm39)	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,623,072 (GRCm39)	C125*	probably null	Het
Krt14	C	T	11: 100,098,044 (GRCm39)	G80R	unknown	Het
Lama5	T	C	2: 179,820,923 (GRCm39)	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,713,809 (GRCm39)	C125Y	unknown	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Meioc	C	T	11: 102,566,184 (GRCm39)	A600V	probably benign	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365 (GRCm39)	Y999C	probably damaging	Het
Ncbp3	T	A	11: 72,944,346 (GRCm39)	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,428,266 (GRCm39)	I38T	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k49	T	A	2: 111,495,168 (GRCm39)	M199K	possibly damaging	Het
Padi6	T	G	4: 140,456,279 (GRCm39)	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,746,272 (GRCm39)	V1906A	probably benign	Het
Pom121	T	C	5: 135,410,404 (GRCm39)		probably benign	Het
Psmd9	T	C	5: 123,379,925 (GRCm39)	F115L	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rai1	T	C	11: 60,076,415 (GRCm39)	F160L	probably damaging	Het
Rhbdl2	A	T	4: 123,720,665 (GRCm39)	R234S	probably damaging	Het
Rnase2a	T	A	14: 51,493,245 (GRCm39)	Y40F	probably damaging	Het
Setd2	T	C	9: 110,378,201 (GRCm39)	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,393,857 (GRCm39)	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,255,703 (GRCm39)	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,747,728 (GRCm39)	T284I	probably damaging	Het
Slfn9	A	G	11: 82,872,507 (GRCm39)	L743P	probably damaging	Het
Smchd1	T	A	17: 71,677,923 (GRCm39)	N1473I	probably benign	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tectb	T	C	19: 55,170,361 (GRCm39)	F71L	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnc	A	G	4: 63,882,858 (GRCm39)	V1921A	probably damaging	Het
Ubn1	T	G	16: 4,882,487 (GRCm39)	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,647,357 (GRCm39)	S579P	probably damaging	Het
Xdh	A	G	17: 74,228,300 (GRCm39)	L367P	possibly damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp990	A	C	4: 145,263,974 (GRCm39)	Y324S	possibly damaging	Het

Other mutations in Gabra5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Gabra5	APN	7	57,138,736 (GRCm39)	missense	probably damaging	1.00
IGL01475:Gabra5	APN	7	57,058,432 (GRCm39)	missense	probably damaging	1.00
IGL02750:Gabra5	APN	7	57,157,739 (GRCm39)	missense	probably benign	0.01
PIT4581001:Gabra5	UTSW	7	57,138,605 (GRCm39)	missense	probably damaging	1.00
R0003:Gabra5	UTSW	7	57,063,476 (GRCm39)	missense	probably damaging	1.00
R1519:Gabra5	UTSW	7	57,058,641 (GRCm39)	missense	probably benign	0.39
R1740:Gabra5	UTSW	7	57,071,590 (GRCm39)	missense	probably benign
R1766:Gabra5	UTSW	7	57,157,796 (GRCm39)	missense	probably benign	0.05
R1865:Gabra5	UTSW	7	57,138,940 (GRCm39)	nonsense	probably null
R2143:Gabra5	UTSW	7	57,138,763 (GRCm39)	missense	probably damaging	1.00
R2444:Gabra5	UTSW	7	57,058,623 (GRCm39)	missense	probably benign
R2829:Gabra5	UTSW	7	57,140,583 (GRCm39)	missense	probably benign
R2966:Gabra5	UTSW	7	57,058,389 (GRCm39)	missense	probably damaging	0.99
R4014:Gabra5	UTSW	7	57,138,758 (GRCm39)	missense	probably damaging	1.00
R4876:Gabra5	UTSW	7	57,063,413 (GRCm39)	missense	probably damaging	1.00
R4936:Gabra5	UTSW	7	57,058,547 (GRCm39)	missense	probably benign	0.32
R5217:Gabra5	UTSW	7	57,140,604 (GRCm39)	missense	probably benign	0.00
R5360:Gabra5	UTSW	7	57,140,533 (GRCm39)	missense	probably damaging	1.00
R6021:Gabra5	UTSW	7	57,157,740 (GRCm39)	missense	probably benign	0.00
R6340:Gabra5	UTSW	7	57,063,496 (GRCm39)	missense	probably damaging	1.00
R6351:Gabra5	UTSW	7	57,063,528 (GRCm39)	missense	probably damaging	1.00
R6751:Gabra5	UTSW	7	57,068,082 (GRCm39)	missense	probably damaging	1.00
R7267:Gabra5	UTSW	7	57,140,529 (GRCm39)	missense	probably damaging	1.00
R9479:Gabra5	UTSW	7	57,058,440 (GRCm39)	missense
R9487:Gabra5	UTSW	7	57,157,873 (GRCm39)	start gained	probably benign
R9785:Gabra5	UTSW	7	57,140,584 (GRCm39)	missense	probably benign	0.05
X0028:Gabra5	UTSW	7	57,138,659 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTACTTAACTGCTTACCG -3'
(R):5'- CAGGTGCGAACAGACATCTATG -3'

Sequencing Primer
(F):5'- CCGCATGGTGTAGAGAAGTGTG -3'
(R):5'- GGTGCGAACAGACATCTATGTTACC -3'

Posted On

2014-08-25