Mutagenetix > Incidental Mutation

Incidental Mutation 'R1740:Gabra5'

200281

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

039772-MU

Accession Numbers

Essential gene?

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

Stock #

R1740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57057420-57159807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57071590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 209 (S209P)

Ref Sequence

ENSEMBL: ENSMUSP00000145685 (fasta)

Gene Model

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

AlphaFold

Q8BHJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000068456
AA Change: S209P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: S209P

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 benign
Transcript: ENSMUST00000206382
AA Change: S209P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206734
AA Change: S209P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

99% (69/70)

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
2610021A01Rik	T	A	7: 41,275,549 (GRCm39)	C417*	probably null	Het
4930548G14Rik	G	A	15: 46,488,885 (GRCm39)		noncoding transcript	Het
Abcc12	T	A	8: 87,232,126 (GRCm39)	K1311*	probably null	Het
Abcc12	T	C	8: 87,236,400 (GRCm39)	D1138G	possibly damaging	Het
Adam32	A	G	8: 25,411,314 (GRCm39)	S116P	probably damaging	Het
Arhgef26	C	T	3: 62,331,004 (GRCm39)	L39F	probably damaging	Het
Babam1	T	C	8: 71,855,663 (GRCm39)	I252T	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Ccdc61	G	T	7: 18,637,862 (GRCm39)		probably benign	Het
Ccdc89	C	T	7: 90,075,946 (GRCm39)	S52F	probably damaging	Het
Cds2	T	A	2: 132,144,133 (GRCm39)	I320N	possibly damaging	Het
Cebpe	T	C	14: 54,949,399 (GRCm39)	Y6C	probably damaging	Het
Cep250	T	A	2: 155,815,276 (GRCm39)	I598N	probably damaging	Het
Cep350	T	A	1: 155,804,579 (GRCm39)	I835F	probably damaging	Het
Ces3a	T	C	8: 105,775,317 (GRCm39)	L22P	probably damaging	Het
Cfap221	T	C	1: 119,873,558 (GRCm39)	S490G	probably benign	Het
Cyp2j11	A	G	4: 96,207,613 (GRCm39)	V234A	probably benign	Het
Dgat1	T	C	15: 76,386,929 (GRCm39)	H399R	probably damaging	Het
Dnah10	A	T	5: 124,850,254 (GRCm39)		probably null	Het
Ebpl	T	G	14: 61,578,656 (GRCm39)	K193T	probably benign	Het
Entpd5	T	C	12: 84,443,545 (GRCm39)	N66S	probably benign	Het
Fcgbp	G	T	7: 27,800,674 (GRCm39)	G1240V	possibly damaging	Het
Glce	A	T	9: 61,977,815 (GRCm39)	V23D	probably damaging	Het
Gm14226	GACTGTTAC	GAC	2: 154,866,851 (GRCm39)		probably benign	Het
Gtf2h1	A	G	7: 46,461,890 (GRCm39)	N296S	probably null	Het
Herc6	T	C	6: 57,629,050 (GRCm39)	S654P	probably benign	Het
Kcnk3	A	T	5: 30,779,321 (GRCm39)	M124L	possibly damaging	Het
Lamb2	T	G	9: 108,359,127 (GRCm39)	V281G	probably damaging	Het
Lctl	A	T	9: 64,040,389 (GRCm39)	D444V	probably damaging	Het
Mcm2	A	G	6: 88,861,026 (GRCm39)	F891L	probably damaging	Het
Mcub	A	T	3: 129,712,376 (GRCm39)	H166Q	probably benign	Het
Mical2	G	T	7: 111,933,043 (GRCm39)	R739L	probably benign	Het
Mideas	T	C	12: 84,219,676 (GRCm39)	E426G	probably damaging	Het
Mkrn2	G	T	6: 115,590,330 (GRCm39)	A229S	probably damaging	Het
Mmp7	A	G	9: 7,695,278 (GRCm39)	Y80C	possibly damaging	Het
Mpp2	T	C	11: 101,953,222 (GRCm39)		probably null	Het
Msh6	C	A	17: 88,293,150 (GRCm39)	T635K	possibly damaging	Het
Mvd	T	A	8: 123,163,286 (GRCm39)	T315S	probably benign	Het
Myocd	C	T	11: 65,109,347 (GRCm39)		probably benign	Het
Nav1	C	T	1: 135,386,127 (GRCm39)		probably null	Het
Or4k48	T	A	2: 111,476,214 (GRCm39)	I43F	probably damaging	Het
Pde4b	A	T	4: 102,344,548 (GRCm39)	D141V	probably damaging	Het
Pdgfrb	A	T	18: 61,214,905 (GRCm39)	D978V	possibly damaging	Het
Prss55	T	C	14: 64,313,129 (GRCm39)	T252A	probably damaging	Het
Psd3	A	T	8: 68,573,491 (GRCm39)	V230E	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptprn	A	G	1: 75,238,694 (GRCm39)	V82A	probably damaging	Het
Ptpru	G	T	4: 131,520,989 (GRCm39)		probably null	Het
Raph1	T	A	1: 60,558,183 (GRCm39)	K258*	probably null	Het
Rnf25	A	G	1: 74,637,886 (GRCm39)	V28A	probably damaging	Het
Slc25a4	C	T	8: 46,661,540 (GRCm39)	V212M	probably benign	Het
Slc39a3	T	C	10: 80,867,342 (GRCm39)	S135G	probably damaging	Het
Slco6d1	A	G	1: 98,356,097 (GRCm39)	I220M	probably damaging	Het
Smim19	G	T	8: 22,963,544 (GRCm39)	Y21*	probably null	Het
Speer4f1	A	C	5: 17,683,759 (GRCm39)	Y141S	probably damaging	Het
Srgap2	G	A	1: 131,217,126 (GRCm39)	P1062L	probably benign	Het
Stra8	A	T	6: 34,904,654 (GRCm39)		probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem40	A	G	6: 115,715,960 (GRCm39)	S76P	probably benign	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het
Vmn1r128	A	T	7: 21,083,869 (GRCm39)	Q191L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		probably benign	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
R1766:Gabra5	UTSW	7	57,157,796 (GRCm39)	missense	probably benign	0.05
R1865:Gabra5	UTSW	7	57,138,940 (GRCm39)	nonsense	probably null
R2024:Gabra5	UTSW	7	57,138,698 (GRCm39)	missense	probably damaging	1.00
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'- TGCAGATGCCACATGCACTACAG -3'
(R):5'- ATGCTTTCTAAGCCCTGGAGGTCG -3'

Sequencing Primer
(F):5'- AGTTGCATAAGATCTGTACTCCTGC -3'
(R):5'- CCTGGAGGTCGATTCTCAAC -3'

Posted On

2014-05-23