Mutagenetix > Incidental Mutation

Incidental Mutation 'R7840:Gabra4'

628623

Institutional Source

Beutler Lab

Gene Symbol

Gabra4

Ensembl Gene

ENSMUSG00000029211

Gene Name

gamma-aminobutyric acid type A receptor subunit alpha 4

Synonyms

Gabra-4

MMRRC Submission

045894-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71727092-71815651 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 71798256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031121] [ENSMUST00000197994] [ENSMUST00000198138] [ENSMUST00000199357]

AlphaFold

Q9D6F4

Predicted Effect

probably null
Transcript: ENSMUST00000031121

SMART Domains

Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Neur_chan_LBD	48	256	8.8e-52	PFAM
Pfam:Neur_chan_memb	263	536	3.4e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197994

Predicted Effect

probably benign
Transcript: ENSMUST00000198138

SMART Domains

Protein: ENSMUSP00000142466
Gene: ENSMUSG00000029211

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
SCOP:d1i9ba_	53	69	3e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199357

SMART Domains

Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Neur_chan_LBD	91	282	1.7e-45	PFAM
Pfam:Neur_chan_memb	289	562	3.3e-44	PFAM

Coding Region Coverage

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

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (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. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,074,689 (GRCm39)	N577S	probably benign	Het
Ang4	A	G	14: 52,001,529 (GRCm39)	S140P	probably damaging	Het
Ankdd1b	T	C	13: 96,556,306 (GRCm39)		probably null	Het
Anln	G	T	9: 22,274,019 (GRCm39)	A606D	probably benign	Het
Ano5	T	G	7: 51,237,480 (GRCm39)	V768G	possibly damaging	Het
Ccdc180	A	T	4: 45,900,461 (GRCm39)	Y275F	possibly damaging	Het
Chpf	T	C	1: 75,453,271 (GRCm39)	Y334C	probably damaging	Het
Chrdl2	T	C	7: 99,682,863 (GRCm39)	L381S	probably damaging	Het
Cibar2	T	C	8: 120,893,372 (GRCm39)	D273G	probably benign	Het
Cox20	A	T	1: 178,150,126 (GRCm39)	Y100F	probably benign	Het
Dbn1	T	C	13: 55,623,322 (GRCm39)	D433G	possibly damaging	Het
Dclre1a	A	T	19: 56,519,684 (GRCm39)	I983N	probably damaging	Het
Dok6	A	T	18: 89,578,182 (GRCm39)	H78Q	probably benign	Het
Efcab3	G	A	11: 104,624,539 (GRCm39)	D878N	probably benign	Het
Fpr1	A	T	17: 18,097,634 (GRCm39)	F118L	probably benign	Het
Fscn3	A	G	6: 28,430,175 (GRCm39)	Y115C	probably damaging	Het
Gm45861	T	C	8: 28,072,751 (GRCm39)	V1290A	unknown	Het
Hivep1	T	C	13: 42,308,828 (GRCm39)	V356A	probably benign	Het
Ikbip	T	C	10: 90,937,617 (GRCm39)	Y97H	possibly damaging	Het
Il10	A	G	1: 130,947,805 (GRCm39)	T53A	probably benign	Het
Inpp5f	T	C	7: 128,296,526 (GRCm39)	V959A	probably benign	Het
Insr	T	C	8: 3,308,415 (GRCm39)	E207G	probably benign	Het
Kndc1	T	A	7: 139,503,731 (GRCm39)	S1012T	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Ksr2	T	C	5: 117,693,329 (GRCm39)	V259A	probably benign	Het
Lox	A	T	18: 52,658,194 (GRCm39)	Y326*	probably null	Het
Lpin2	C	A	17: 71,537,269 (GRCm39)	T272N	probably benign	Het
Lrp2	C	T	2: 69,295,128 (GRCm39)	E3397K	probably damaging	Het
Megf11	G	A	9: 64,602,709 (GRCm39)	C850Y	possibly damaging	Het
Morc1	T	C	16: 48,319,147 (GRCm39)	F284L	probably benign	Het
Moxd2	T	A	6: 40,862,378 (GRCm39)	D147V	possibly damaging	Het
Mrpl21	T	C	19: 3,337,752 (GRCm39)	L153P	probably damaging	Het
Naip2	T	C	13: 100,280,917 (GRCm39)	T1432A	probably benign	Het
Naip6	T	A	13: 100,451,979 (GRCm39)	D211V	probably damaging	Het
Ncoa5	T	C	2: 164,854,816 (GRCm39)	H102R	possibly damaging	Het
Ndel1	A	T	11: 68,720,806 (GRCm39)	C293*	probably null	Het
Ninl	A	T	2: 150,808,016 (GRCm39)	M82K	probably benign	Het
Nrcam	G	A	12: 44,587,858 (GRCm39)		probably null	Het
Nup210l	A	T	3: 90,030,036 (GRCm39)	I250L	probably benign	Het
Obscn	T	C	11: 58,968,776 (GRCm39)	E2532G	possibly damaging	Het
Or1e1	C	A	11: 73,244,585 (GRCm39)	A2E	probably benign	Het
Or5v1	G	T	17: 37,809,868 (GRCm39)	G109C	probably damaging	Het
Or8j3c	A	G	2: 86,253,583 (GRCm39)	F146L	probably benign	Het
Osgin1	G	A	8: 120,171,773 (GRCm39)	S189N	possibly damaging	Het
Otud7b	A	G	3: 96,062,690 (GRCm39)	E643G	probably damaging	Het
Phldb2	T	A	16: 45,571,727 (GRCm39)	T1222S	probably damaging	Het
Pwp1	C	T	10: 85,723,914 (GRCm39)	R472W	probably damaging	Het
Rad21	T	C	15: 51,836,538 (GRCm39)	Y211C	probably damaging	Het
Rexo1	A	G	10: 80,386,572 (GRCm39)	V162A	probably benign	Het
Rtl1	C	T	12: 109,560,589 (GRCm39)	V417I	probably benign	Het
Setbp1	G	A	18: 78,826,639 (GRCm39)	P1325S	probably benign	Het
Shld1	A	G	2: 132,592,510 (GRCm39)	T186A	probably damaging	Het
Shld2	A	G	14: 33,959,523 (GRCm39)	Y820H	probably damaging	Het
Skint7	G	T	4: 111,839,423 (GRCm39)	C239F	probably benign	Het
Slc25a1	A	G	16: 17,744,138 (GRCm39)	L221P	probably benign	Het
Snrnp70	T	A	7: 45,026,214 (GRCm39)	D385V	unknown	Het
Sp7	A	C	15: 102,267,533 (GRCm39)	V109G	probably benign	Het
Syne1	A	T	10: 5,082,078 (GRCm39)	Y849N	probably damaging	Het
Tas2r108	T	C	6: 40,470,790 (GRCm39)	F89L	possibly damaging	Het
Tcf3	C	T	10: 80,246,301 (GRCm39)	A581T	possibly damaging	Het
Tcta	A	G	9: 108,182,986 (GRCm39)	L53P	probably damaging	Het
Traf3ip2	C	G	10: 39,502,451 (GRCm39)	Q200E	probably damaging	Het
Trgc1	A	T	13: 19,400,691 (GRCm39)	Y140F		Het
Tyk2	A	T	9: 21,036,263 (GRCm39)	C75S	probably damaging	Het
Ugt3a1	G	A	15: 9,311,903 (GRCm39)	G382R	probably damaging	Het
Upp2	G	T	2: 58,664,127 (GRCm39)		probably null	Het
Vmn1r212	A	T	13: 23,067,323 (GRCm39)	F337I	unknown	Het
Vmn1r58	T	C	7: 5,414,242 (GRCm39)		probably benign	Het
Vps13d	A	T	4: 144,830,246 (GRCm39)	V2856D		Het
Wdr37	A	C	13: 8,886,911 (GRCm39)	L292R	probably damaging	Het
Yipf3	T	C	17: 46,561,790 (GRCm39)	I199T	probably benign	Het
Zdhhc23	A	G	16: 43,791,907 (GRCm39)	S289P	possibly damaging	Het
Zfp229	A	T	17: 21,965,131 (GRCm39)	K454*	probably null	Het

Other mutations in Gabra4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Gabra4	APN	5	71,790,972 (GRCm39)	missense	probably damaging	1.00
IGL01503:Gabra4	APN	5	71,798,429 (GRCm39)	missense	possibly damaging	0.60
IGL02028:Gabra4	APN	5	71,790,939 (GRCm39)	missense	probably damaging	1.00
IGL02688:Gabra4	APN	5	71,729,510 (GRCm39)	missense	probably benign
IGL02749:Gabra4	APN	5	71,795,490 (GRCm39)	missense	probably benign	0.42
IGL03095:Gabra4	APN	5	71,781,358 (GRCm39)	missense	probably damaging	1.00
IGL03330:Gabra4	APN	5	71,798,407 (GRCm39)	missense	probably null	1.00
E0354:Gabra4	UTSW	5	71,798,204 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Gabra4	UTSW	5	71,729,106 (GRCm39)	missense	probably damaging	1.00
R1523:Gabra4	UTSW	5	71,790,975 (GRCm39)	missense	probably damaging	1.00
R1622:Gabra4	UTSW	5	71,729,329 (GRCm39)	missense	possibly damaging	0.57
R1689:Gabra4	UTSW	5	71,790,885 (GRCm39)	splice site	probably null
R1930:Gabra4	UTSW	5	71,795,580 (GRCm39)	missense	probably damaging	1.00
R1931:Gabra4	UTSW	5	71,795,580 (GRCm39)	missense	probably damaging	1.00
R1967:Gabra4	UTSW	5	71,729,412 (GRCm39)	missense	possibly damaging	0.87
R2095:Gabra4	UTSW	5	71,781,455 (GRCm39)	missense	probably damaging	0.99
R2131:Gabra4	UTSW	5	71,798,567 (GRCm39)	missense	probably benign	0.00
R2698:Gabra4	UTSW	5	71,729,421 (GRCm39)	missense	probably benign	0.03
R3884:Gabra4	UTSW	5	71,814,600 (GRCm39)	missense	probably benign	0.33
R3924:Gabra4	UTSW	5	71,799,596 (GRCm39)	splice site	probably benign
R4029:Gabra4	UTSW	5	71,729,532 (GRCm39)	missense	probably benign	0.31
R4361:Gabra4	UTSW	5	71,790,888 (GRCm39)	critical splice donor site	probably null
R4659:Gabra4	UTSW	5	71,798,487 (GRCm39)	missense	probably damaging	1.00
R4682:Gabra4	UTSW	5	71,815,152 (GRCm39)	start codon destroyed	probably null	0.74
R4810:Gabra4	UTSW	5	71,781,325 (GRCm39)	missense	probably damaging	1.00
R4888:Gabra4	UTSW	5	71,729,546 (GRCm39)	missense	probably benign	0.01
R5093:Gabra4	UTSW	5	71,798,207 (GRCm39)	missense	probably damaging	1.00
R5121:Gabra4	UTSW	5	71,729,546 (GRCm39)	missense	probably benign	0.01
R5889:Gabra4	UTSW	5	71,729,234 (GRCm39)	missense	possibly damaging	0.61
R5906:Gabra4	UTSW	5	71,781,253 (GRCm39)	missense	probably benign	0.00
R6574:Gabra4	UTSW	5	71,781,268 (GRCm39)	missense	probably benign
R7068:Gabra4	UTSW	5	71,729,402 (GRCm39)	missense	probably benign	0.07
R7571:Gabra4	UTSW	5	71,729,335 (GRCm39)	missense	probably benign
R7815:Gabra4	UTSW	5	71,815,152 (GRCm39)	start codon destroyed	possibly damaging	0.54
R7817:Gabra4	UTSW	5	71,798,206 (GRCm39)	missense	probably damaging	1.00
R7899:Gabra4	UTSW	5	71,815,338 (GRCm39)	unclassified	probably benign
R8000:Gabra4	UTSW	5	71,781,304 (GRCm39)	missense	probably damaging	1.00
R8057:Gabra4	UTSW	5	71,781,295 (GRCm39)	missense	probably benign	0.12
R8996:Gabra4	UTSW	5	71,729,046 (GRCm39)	missense	possibly damaging	0.51
R9623:Gabra4	UTSW	5	71,791,023 (GRCm39)	missense	probably damaging	1.00
R9682:Gabra4	UTSW	5	71,798,415 (GRCm39)	missense	possibly damaging	0.75
R9756:Gabra4	UTSW	5	71,729,067 (GRCm39)	missense	probably damaging	0.96
R9762:Gabra4	UTSW	5	71,814,463 (GRCm39)	missense	unknown
R9787:Gabra4	UTSW	5	71,791,004 (GRCm39)	missense	possibly damaging	0.92
Z1176:Gabra4	UTSW	5	71,781,238 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TCACACAGAAGGATTTAAATGCTGG -3'
(R):5'- CTGTCTCACATAACATGACAGC -3'

Sequencing Primer
(F):5'- TGCTGGATAATTAAAGTTGCACAC -3'
(R):5'- TAACATGACAGCTCCAAATAAGC -3'

Posted On

2020-05-27