Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Gabra5'

167278

Institutional Source

Beutler Lab

Gene Symbol

Gabra5

Ensembl Gene

ENSMUSG00000055078

Gene Name

gamma-aminobutyric acid type A receptor subunit alpha 5

Synonyms

A230018I05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R1519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57057420-57159807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 57058641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 369 (L369R)

Ref Sequence

ENSEMBL: ENSMUSP00000145685 (fasta)

Gene Model

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

AlphaFold

Q8BHJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000068456
AA Change: L369R

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: L369R

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

noncoding transcript
Transcript: ENSMUST00000085241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186595

Predicted Effect

probably benign
Transcript: ENSMUST00000206382
AA Change: L369R

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000206734
AA Change: L369R

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Abhd5	T	C	9: 122,208,079 (GRCm39)		probably null	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Actn1	T	C	12: 80,251,852 (GRCm39)	E75G	probably damaging	Het
Adam4	A	T	12: 81,467,651 (GRCm39)	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152 (GRCm39)	R689W	probably damaging	Het
Anxa2	T	C	9: 69,392,523 (GRCm39)	I124T	probably damaging	Het
Aph1c	T	C	9: 66,740,547 (GRCm39)	T10A	probably benign	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Baz2b	C	T	2: 59,778,598 (GRCm39)	R754H	possibly damaging	Het
Blmh	A	G	11: 76,857,607 (GRCm39)	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402 (GRCm39)	L83F	probably damaging	Het
Ccdc168	A	G	1: 44,096,130 (GRCm39)	V1656A	probably benign	Het
Cdh23	A	T	10: 60,215,122 (GRCm39)	Y1403N	possibly damaging	Het
Cic	A	T	7: 24,993,235 (GRCm39)		probably null	Het
Coro1b	T	A	19: 4,200,583 (GRCm39)	V200D	possibly damaging	Het
Csl	T	A	10: 99,593,817 (GRCm39)	E416V	probably damaging	Het
Cyp3a25	A	G	5: 145,938,257 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,399,875 (GRCm39)	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,838,016 (GRCm39)	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,026,031 (GRCm39)	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,772,587 (GRCm39)	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,845,536 (GRCm39)	S236L	unknown	Het
Frs3	A	G	17: 48,013,903 (GRCm39)	T199A	probably benign	Het
Fsd1	A	G	17: 56,300,870 (GRCm39)	N243S	probably benign	Het
Gask1b	A	G	3: 79,848,771 (GRCm39)	N506D	possibly damaging	Het
Gins4	A	G	8: 23,724,792 (GRCm39)	V54A	probably benign	Het
Gli1	T	C	10: 127,170,138 (GRCm39)	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,798,594 (GRCm39)	V633A	probably damaging	Het
Gpr83	T	A	9: 14,779,493 (GRCm39)	C182S	probably null	Het
Gspt1	A	G	16: 11,038,719 (GRCm39)	V627A	probably damaging	Het
Heatr1	T	C	13: 12,427,040 (GRCm39)	C722R	probably benign	Het
Jak1	C	T	4: 101,020,119 (GRCm39)	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,027,137 (GRCm39)	V287A	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Kmo	A	G	1: 175,484,368 (GRCm39)	E366G	probably damaging	Het
Lepr	A	T	4: 101,646,541 (GRCm39)	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,739,425 (GRCm39)	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,690,461 (GRCm39)	Q351L	probably benign	Het
Matcap2	T	G	9: 22,341,671 (GRCm39)	L114R	probably benign	Het
Mgam	T	C	6: 40,638,617 (GRCm39)	I450T	probably benign	Het
Nbeal2	A	G	9: 110,465,373 (GRCm39)	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,077,526 (GRCm39)	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062 (GRCm39)	I70K	probably benign	Het
Or14a257	A	G	7: 86,138,333 (GRCm39)	M142T	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Otud7a	A	G	7: 63,408,391 (GRCm39)	Y898C	probably damaging	Het
Pcdhb18	A	C	18: 37,623,945 (GRCm39)	D425A	probably damaging	Het
Prdm1	A	T	10: 44,315,982 (GRCm39)	L733*	probably null	Het
Prdm2	A	T	4: 142,862,153 (GRCm39)	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596 (GRCm38)	Y436F	probably damaging	Het
Riok3	A	G	18: 12,270,363 (GRCm39)	D167G	probably damaging	Het
Rnf215	G	T	11: 4,085,451 (GRCm39)	R60L	probably damaging	Het
Scart1	G	A	7: 139,808,069 (GRCm39)	V747I	probably benign	Het
Sdk1	A	T	5: 141,985,705 (GRCm39)	H779L	probably benign	Het
Serpine2	A	G	1: 79,772,748 (GRCm39)	F390L	probably damaging	Het
Sh3d21	T	A	4: 126,045,519 (GRCm39)	K387*	probably null	Het
Slc13a2	T	C	11: 78,288,572 (GRCm39)	Y568C	possibly damaging	Het
Slc27a5	T	C	7: 12,722,386 (GRCm39)		probably null	Het
Slc32a1	T	C	2: 158,456,497 (GRCm39)	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,241,025 (GRCm39)	N454D	probably benign	Het
Spag8	T	C	4: 43,652,777 (GRCm39)	Y228C	possibly damaging	Het
Spata31e4	G	A	13: 50,854,443 (GRCm39)		probably null	Het
Spc25	T	C	2: 69,030,431 (GRCm39)	I71V	probably damaging	Het
Tcte1	T	A	17: 45,846,178 (GRCm39)	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,174 (GRCm39)	K481N	probably benign	Het
Tll2	G	T	19: 41,074,839 (GRCm39)	N908K	probably benign	Het
Tmem236	T	C	2: 14,197,091 (GRCm39)	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953 (GRCm38)		probably null	Het
Topaz1	G	A	9: 122,596,076 (GRCm39)	S949N	probably benign	Het
Triobp	A	G	15: 78,857,938 (GRCm39)	T1180A	probably benign	Het
Trip11	A	C	12: 101,852,419 (GRCm39)	D548E	probably benign	Het
Trpv2	T	A	11: 62,480,652 (GRCm39)		probably null	Het
Ulbp3	A	G	10: 3,075,230 (GRCm39)		noncoding transcript	Het
Vmn1r12	T	A	6: 57,136,540 (GRCm39)	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,837,884 (GRCm39)	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,623,876 (GRCm39)	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,053 (GRCm39)	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,322 (GRCm39)	S449G	probably benign	Het
Wfikkn2	T	C	11: 94,128,933 (GRCm39)	T403A	probably benign	Het
Xirp2	A	G	2: 67,346,023 (GRCm39)	I2755V	probably benign	Het
Yjefn3	A	G	8: 70,341,729 (GRCm39)	V153A	probably benign	Het
Zfp677	C	A	17: 21,617,499 (GRCm39)	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,365,273 (GRCm39)	V134I	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
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
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'- GCAAAATTTCCTGAAAGACAGCGCC -3'
(R):5'- CATCAATAAGGACTCGTGCTCACCC -3'

Sequencing Primer
(F):5'- ACAATCCGGGACATTTTGTCG -3'
(R):5'- GTGCTCACCCACACCTATCTG -3'

Posted On

2014-04-13