Mutagenetix > Incidental Mutation

Incidental Mutation 'R9651:Gabra1'

727117

Institutional Source

Beutler Lab

Gene Symbol

Gabra1

Ensembl Gene

ENSMUSG00000010803

Gene Name

gamma-aminobutyric acid type A receptor subunit alpha 1

Synonyms

GABAA alpha 1, Gabra-1, GABAAR alpha1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R9651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42021766-42073757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42045853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 86 (Y86H)

Ref Sequence

ENSEMBL: ENSMUSP00000020707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020707] [ENSMUST00000153147] [ENSMUST00000205546] [ENSMUST00000206105] [ENSMUST00000207274]

AlphaFold

P62812

Predicted Effect

probably damaging
Transcript: ENSMUST00000020707
AA Change: Y86H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: Y86H

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Neur_chan_LBD	41	249	1.5e-52	PFAM
Pfam:Neur_chan_memb	256	347	8.6e-33	PFAM
low complexity region	395	411	N/A	INTRINSIC
transmembrane domain	420	442	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000153147
AA Change: Y86H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129056
Gene: ENSMUSG00000010803
AA Change: Y86H

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
SCOP:d1i9ba_	46	84	2e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000205546
AA Change: Y86H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206105
AA Change: Y86H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207274
AA Change: Y86H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	C	8: 106,436,604 (GRCm39)	S267P		Het
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abca13	A	G	11: 9,535,484 (GRCm39)	S4703G	probably benign	Het
Abca9	A	T	11: 110,006,319 (GRCm39)	M1262K	probably benign	Het
Acta1	A	T	8: 124,619,431 (GRCm39)	Y220*	probably null	Het
Actr6	A	G	10: 89,564,877 (GRCm39)	V24A	probably damaging	Het
Adam30	T	C	3: 98,069,936 (GRCm39)	Y590H	possibly damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Ankle2	A	G	5: 110,385,661 (GRCm39)	I337V	probably benign	Het
Arid2	T	C	15: 96,256,822 (GRCm39)	V220A	probably benign	Het
Atp8b2	T	C	3: 89,865,603 (GRCm39)	D99G	probably damaging	Het
Baz1b	A	T	5: 135,252,022 (GRCm39)	H940L	probably benign	Het
Cacna1d	C	T	14: 29,764,881 (GRCm39)	V2017I	probably benign	Het
Ccn1	G	T	3: 145,354,583 (GRCm39)	N109K	probably damaging	Het
Cd226	T	A	18: 89,265,395 (GRCm39)	C224*	probably null	Het
Cdrt4	T	A	11: 62,883,466 (GRCm39)	I56N	possibly damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cryz	A	G	3: 154,327,765 (GRCm39)	Q289R	probably benign	Het
Csn1s2b	T	A	5: 87,968,820 (GRCm39)	M94K	probably benign	Het
Ctnnd1	T	C	2: 84,439,899 (GRCm39)	K804E	possibly damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dffa	A	G	4: 149,190,674 (GRCm39)	T68A	probably damaging	Het
Dnah2	C	T	11: 69,341,824 (GRCm39)		probably null	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Epn3	C	T	11: 94,383,687 (GRCm39)		probably null	Het
Fem1c	A	T	18: 46,657,674 (GRCm39)	D13E		Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fpr2	T	A	17: 18,113,484 (GRCm39)	I160N	probably benign	Het
Gabrb3	T	C	7: 57,415,202 (GRCm39)	Y91H	probably damaging	Het
Gcn1	T	C	5: 115,747,665 (GRCm39)		probably null	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gpr152	T	G	19: 4,192,614 (GRCm39)	W52G	probably damaging	Het
Hsd17b12	A	G	2: 93,988,081 (GRCm39)	V45A	probably benign	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Il16	T	A	7: 83,332,064 (GRCm39)	N172I	probably damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Lama1	T	C	17: 68,101,215 (GRCm39)	S1903P		Het
Llgl2	A	T	11: 115,742,941 (GRCm39)		probably null	Het
Mical1	A	T	10: 41,362,022 (GRCm39)		probably null	Het
Muc2	C	T	7: 141,288,014 (GRCm39)	P262S	probably damaging	Het
Myo9a	A	G	9: 59,778,764 (GRCm39)	R1507G	probably damaging	Het
Ndst1	G	A	18: 60,833,539 (GRCm39)	H491Y	probably damaging	Het
Nfasc	T	C	1: 132,527,791 (GRCm39)	T872A	probably benign	Het
Nipal3	A	T	4: 135,174,634 (GRCm39)	C372*	probably null	Het
Nmrk1	A	G	19: 18,616,929 (GRCm39)	H26R	probably benign	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Or2m12	C	T	16: 19,105,489 (GRCm39)	M1I	probably null	Het
Or51d1	T	A	7: 102,347,832 (GRCm39)	M129K	probably damaging	Het
Or5au1	T	C	14: 52,273,205 (GRCm39)	D121G	probably damaging	Het
Or5b102	T	G	19: 13,041,256 (GRCm39)	D160E	probably benign	Het
P2ry12	T	C	3: 59,134,931 (GRCm39)		probably benign	Het
Pax8	T	A	2: 24,331,173 (GRCm39)	D174V	probably damaging	Het
Pbxip1	A	G	3: 89,352,795 (GRCm39)	D147G	probably damaging	Het
Pnpla7	T	C	2: 24,892,931 (GRCm39)	S451P	probably benign	Het
Polm	A	G	11: 5,781,732 (GRCm39)	Y255H	probably damaging	Het
Polr1has	C	T	17: 37,276,353 (GRCm39)	Q242*	probably null	Het
Rdh14	T	A	12: 10,441,118 (GRCm39)	C93*	probably null	Het
Rnf213	C	A	11: 119,331,238 (GRCm39)	S2150Y		Het
Rpap1	G	A	2: 119,598,484 (GRCm39)	P1111L	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Sbp	A	G	17: 24,164,419 (GRCm39)	*200W	probably null	Het
Scn10a	A	G	9: 119,439,063 (GRCm39)	M1601T	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc4a1	A	T	11: 102,242,256 (GRCm39)	I821N	probably damaging	Het
Spaca6	T	A	17: 18,057,829 (GRCm39)	D164E	probably benign	Het
Synj1	T	C	16: 90,735,412 (GRCm39)	T1514A	probably benign	Het
Synj1	C	T	16: 90,757,343 (GRCm39)	V902I	possibly damaging	Het
Tctn1	A	G	5: 122,384,576 (GRCm39)	Y443H	probably benign	Het
Thoc5	C	T	11: 4,849,883 (GRCm39)	R25W	possibly damaging	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Trim45	C	T	3: 100,832,705 (GRCm39)	Q313*	probably null	Het
Ubqlnl	T	C	7: 103,799,122 (GRCm39)	D125G	possibly damaging	Het
Ubr4	A	T	4: 139,206,859 (GRCm39)	E4926V	unknown	Het
Usp5	T	C	6: 124,799,501 (GRCm39)	D349G	possibly damaging	Het
Vmn1r25	T	A	6: 57,956,306 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,344,167 (GRCm39)	Q2136R	possibly damaging	Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp712	A	G	13: 67,188,824 (GRCm39)	S568P	probably benign	Het

Other mutations in Gabra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Gabra1	APN	11	42,024,453 (GRCm39)	missense	probably benign	0.06
IGL01645:Gabra1	APN	11	42,026,389 (GRCm39)	missense	probably damaging	1.00
IGL01893:Gabra1	APN	11	42,024,586 (GRCm39)	missense	possibly damaging	0.80
IGL02114:Gabra1	APN	11	42,026,402 (GRCm39)	missense	probably damaging	1.00
IGL02378:Gabra1	APN	11	42,031,082 (GRCm39)	missense	probably damaging	1.00
IGL03402:Gabra1	APN	11	42,024,345 (GRCm39)	missense	probably damaging	0.96
opulence	UTSW	11	42,053,382 (GRCm39)	missense	probably benign	0.08
Splendor	UTSW	11	42,026,270 (GRCm39)	missense	possibly damaging	0.94
R0546:Gabra1	UTSW	11	42,053,428 (GRCm39)	missense	probably damaging	0.96
R1495:Gabra1	UTSW	11	42,045,771 (GRCm39)	missense	probably damaging	1.00
R1538:Gabra1	UTSW	11	42,031,177 (GRCm39)	missense	probably benign	0.19
R1850:Gabra1	UTSW	11	42,070,403 (GRCm39)	missense	probably benign
R1989:Gabra1	UTSW	11	42,045,842 (GRCm39)	missense	probably damaging	1.00
R2061:Gabra1	UTSW	11	42,024,625 (GRCm39)	unclassified	probably benign
R3758:Gabra1	UTSW	11	42,066,763 (GRCm39)	missense	probably benign	0.25
R4781:Gabra1	UTSW	11	42,024,488 (GRCm39)	missense	probably damaging	0.98
R4788:Gabra1	UTSW	11	42,037,980 (GRCm39)	missense	probably damaging	1.00
R5215:Gabra1	UTSW	11	42,045,655 (GRCm39)	missense	probably damaging	1.00
R5306:Gabra1	UTSW	11	42,024,379 (GRCm39)	missense	probably benign	0.00
R5655:Gabra1	UTSW	11	42,073,750 (GRCm39)	splice site	probably null
R5789:Gabra1	UTSW	11	42,073,742 (GRCm39)	unclassified	probably benign
R6273:Gabra1	UTSW	11	42,031,138 (GRCm39)	missense	probably damaging	0.99
R6289:Gabra1	UTSW	11	42,045,846 (GRCm39)	missense	probably damaging	0.97
R6298:Gabra1	UTSW	11	42,073,205 (GRCm39)	unclassified	probably benign
R6475:Gabra1	UTSW	11	42,053,382 (GRCm39)	missense	probably benign	0.08
R6552:Gabra1	UTSW	11	42,037,926 (GRCm39)	missense	probably damaging	0.99
R7338:Gabra1	UTSW	11	42,073,121 (GRCm39)	missense	unknown
R7405:Gabra1	UTSW	11	42,045,850 (GRCm39)	missense	probably damaging	1.00
R7515:Gabra1	UTSW	11	42,045,660 (GRCm39)	missense	possibly damaging	0.95
R7725:Gabra1	UTSW	11	42,026,270 (GRCm39)	missense	possibly damaging	0.94
R7727:Gabra1	UTSW	11	42,024,418 (GRCm39)	missense	probably damaging	1.00
R8193:Gabra1	UTSW	11	42,037,968 (GRCm39)	missense	probably damaging	1.00
R8319:Gabra1	UTSW	11	42,026,315 (GRCm39)	missense	probably damaging	1.00
R8362:Gabra1	UTSW	11	42,066,831 (GRCm39)	missense	probably benign	0.15
R8890:Gabra1	UTSW	11	42,024,553 (GRCm39)	missense	probably benign	0.00
R8905:Gabra1	UTSW	11	42,038,052 (GRCm39)	missense	possibly damaging	0.95
R8918:Gabra1	UTSW	11	42,026,320 (GRCm39)	missense	probably damaging	1.00
R9295:Gabra1	UTSW	11	42,044,217 (GRCm39)	missense	probably damaging	1.00
R9601:Gabra1	UTSW	11	42,026,401 (GRCm39)	missense	probably damaging	1.00
R9789:Gabra1	UTSW	11	42,024,352 (GRCm39)	missense	probably damaging	1.00
X0066:Gabra1	UTSW	11	42,024,565 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGGAGCTTATTAGGCATGGTC -3'
(R):5'- CAGAGGGGTCTGTAAATATTATGCT -3'

Sequencing Primer
(F):5'- CATGTTGTGGGCCACAGACTTC -3'
(R):5'- GACAAAGGAAGTTTTTGTTTGAGAAC -3'

Posted On

2022-10-06