Mutagenetix > Incidental Mutation

Incidental Mutation 'R6021:Gabra5'

478938

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

044194-MU

Accession Numbers

Essential gene?

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

Stock #

R6021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57057420-57159807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57157740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 25 (S25P)

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: S25P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: S25P

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: S25P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000206734
AA Change: S25P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	G	4: 123,754,509 (GRCm39)	D141G	possibly damaging	Het
A1bg	T	C	15: 60,791,713 (GRCm39)	E241G	possibly damaging	Het
Abca13	G	A	11: 9,240,465 (GRCm39)	W776*	probably null	Het
Akr1b10	T	A	6: 34,369,309 (GRCm39)		probably null	Het
Aopep	A	G	13: 63,208,896 (GRCm39)	T338A	probably damaging	Het
Atf7	T	C	15: 102,465,908 (GRCm39)	D84G	probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Azi2	T	A	9: 117,876,487 (GRCm39)	M1K	probably null	Het
Boc	T	A	16: 44,309,017 (GRCm39)	M832L	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacna1s	T	C	1: 136,034,225 (GRCm39)	L1050P	probably benign	Het
Celsr2	G	T	3: 108,308,561 (GRCm39)	P1789T	probably benign	Het
Crebbp	G	A	16: 3,903,282 (GRCm39)	R1986C	probably damaging	Het
Crtam	T	A	9: 40,901,477 (GRCm39)	I150F	probably damaging	Het
Crybg1	G	T	10: 43,873,534 (GRCm39)	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,167,552 (GRCm39)	T1017A	probably benign	Het
Dnah10	A	G	5: 124,814,048 (GRCm39)	E396G	probably damaging	Het
Enpp5	A	T	17: 44,396,210 (GRCm39)	Y374F	probably benign	Het
Fzd4	G	A	7: 89,056,942 (GRCm39)	A330T	probably benign	Het
Get1	T	C	16: 95,946,878 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,589 (GRCm39)	Y198C	probably damaging	Het
Gm3173	A	C	14: 15,728,458 (GRCm39)	D39A	probably damaging	Het
Grm2	T	C	9: 106,527,999 (GRCm39)	D295G	probably damaging	Het
H2-T13	T	G	17: 36,392,166 (GRCm39)	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,902,363 (GRCm39)	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,131,173 (GRCm39)	M343K	possibly damaging	Het
Kif19b	A	T	5: 140,455,434 (GRCm39)	M347L	probably damaging	Het
Loxhd1	A	T	18: 77,499,946 (GRCm39)	D120V	probably damaging	Het
Lrp1	T	C	10: 127,413,883 (GRCm39)	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,234,439 (GRCm39)	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,516,005 (GRCm39)	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,803,708 (GRCm39)	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063 (GRCm39)	V128E	probably benign	Het
Mtf2	A	G	5: 108,229,003 (GRCm39)	I69V	possibly damaging	Het
Myh10	T	A	11: 68,699,688 (GRCm39)	S1712T	possibly damaging	Het
Mylk3	A	G	8: 86,091,442 (GRCm39)	V121A	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760 (GRCm39)	N100D	probably benign	Het
Notch2	T	C	3: 98,029,288 (GRCm39)	F1017S	probably damaging	Het
Or4a27	G	T	2: 88,559,294 (GRCm39)	Y216*	probably null	Het
Or4a80	A	C	2: 89,582,465 (GRCm39)	S236A	probably benign	Het
Or4c108	G	T	2: 88,803,376 (GRCm39)	Y286*	probably null	Het
P2ry2	T	C	7: 100,647,607 (GRCm39)	T233A	probably benign	Het
Paip1	T	"TTA,TT"	13: 119,593,671 (GRCm39)		probably null	Het
Pak1	T	C	7: 97,503,670 (GRCm39)	S2P	probably damaging	Het
Pde8b	A	T	13: 95,162,670 (GRCm39)	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,173,338 (GRCm39)		probably benign	Het
Pramel28	A	T	4: 143,692,336 (GRCm39)	C222S	probably benign	Het
Raver1	A	G	9: 20,987,918 (GRCm39)	L606P	probably damaging	Het
Robo3	C	T	9: 37,333,829 (GRCm39)	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rxfp2	A	G	5: 149,987,202 (GRCm39)	N337S	possibly damaging	Het
Samhd1	T	C	2: 156,962,474 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,079,655 (GRCm39)	V879A	probably benign	Het
Slc4a4	A	T	5: 89,188,261 (GRCm39)		probably benign	Het
Slc6a11	T	C	6: 114,207,012 (GRCm39)	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,383,321 (GRCm39)	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,759,103 (GRCm39)	I632N	probably damaging	Het
Tmem145	C	T	7: 25,008,270 (GRCm39)		probably null	Het
Trmt61a	C	A	12: 111,647,411 (GRCm39)	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,313,391 (GRCm39)	I95L	probably benign	Het
Vmn1r85	T	C	7: 12,818,616 (GRCm39)	E176G	probably benign	Het
Vmn2r75	T	C	7: 85,820,820 (GRCm39)	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,598,210 (GRCm39)	Y78C	probably damaging	Het
Zfp964	G	T	8: 70,115,742 (GRCm39)	S114I	unknown	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
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
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'- TTTCTGAGACCCTGCAACCAG -3'
(R):5'- ACTGTAGTGACGGGAACATCC -3'

Sequencing Primer
(F):5'- AGAAACCGCCTTGCTCAG -3'
(R):5'- AACATCCGTGTTCATGTGTTTC -3'

Posted On

2017-06-26