Mutagenetix > Incidental Mutation

Incidental Mutation 'R8057:Gabra4'

619441

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

067494-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71727092-71815651 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71781295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 372 (I372T)

Ref Sequence

ENSEMBL: ENSMUSP00000143675 (fasta)

Gene Model

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

AlphaFold

Q9D6F4

Predicted Effect

probably benign
Transcript: ENSMUST00000031121
AA Change: I346T

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: I346T

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 benign
Transcript: ENSMUST00000199357
AA Change: I372T

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: I372T

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,826 (GRCm39)	L32P	probably damaging	Het
4930563M21Rik	T	C	9: 55,916,564 (GRCm39)	T38A	unknown	Het
Abcb6	T	C	1: 75,151,002 (GRCm39)	N563D	probably damaging	Het
Ak4	T	C	4: 101,317,850 (GRCm39)	F140S	probably damaging	Het
Arhgap27	T	A	11: 103,229,519 (GRCm39)	R296S	probably damaging	Het
Atxn7l1	A	C	12: 33,376,001 (GRCm39)	K98N	probably damaging	Het
Bex6	G	T	16: 32,005,224 (GRCm39)	D11Y	probably damaging	Het
Camta1	T	C	4: 151,228,489 (GRCm39)	D781G	probably damaging	Het
Capn7	A	G	14: 31,092,936 (GRCm39)	D800G	probably benign	Het
Carmil2	G	A	8: 106,419,008 (GRCm39)	V716I	probably benign	Het
Cdk5	C	A	5: 24,625,782 (GRCm39)	D144Y	probably damaging	Het
Cep85	T	C	4: 133,880,925 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,450,829 (GRCm39)	L651Q	probably damaging	Het
Cimap1d	T	A	10: 79,475,835 (GRCm39)	H243L	probably damaging	Het
Clcn7	C	T	17: 25,368,233 (GRCm39)	Q261*	probably null	Het
Cntnap2	T	A	6: 46,324,079 (GRCm39)	F576Y	probably damaging	Het
Col11a1	G	A	3: 113,925,263 (GRCm39)	G815D	unknown	Het
Col4a4	T	A	1: 82,501,591 (GRCm39)	R387S	unknown	Het
Cse1l	T	A	2: 166,781,845 (GRCm39)	V663D	probably damaging	Het
Csf2rb2	G	T	15: 78,169,206 (GRCm39)	Q650K	probably damaging	Het
Ctnnd2	A	G	15: 30,847,497 (GRCm39)	D696G	possibly damaging	Het
Dnah7c	T	A	1: 46,728,112 (GRCm39)	C2937S	possibly damaging	Het
Epha10	A	T	4: 124,796,476 (GRCm39)	Q395L		Het
Fam167a	T	A	14: 63,689,769 (GRCm39)	V22E	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Gpt	A	G	15: 76,580,972 (GRCm39)		probably benign	Het
H2-K2	C	T	17: 34,215,833 (GRCm39)	G336D	possibly damaging	Het
Hapstr1	C	T	16: 8,648,232 (GRCm39)		probably benign	Het
Hoxd8	T	C	2: 74,535,070 (GRCm39)		probably null	Het
Ilrun	C	T	17: 27,986,863 (GRCm39)	A288T	unknown	Het
Kdm5d	T	G	Y: 927,355 (GRCm39)	D658E	possibly damaging	Het
Krt25	G	A	11: 99,208,169 (GRCm39)	T353M	probably benign	Het
Lonp2	T	C	8: 87,440,717 (GRCm39)	L778P	probably damaging	Het
Lrrc66	G	A	5: 73,764,875 (GRCm39)	Q723*	probably null	Het
Mak	T	A	13: 41,202,813 (GRCm39)	I212F	probably damaging	Het
Mastl	T	A	2: 23,023,566 (GRCm39)	R386W	possibly damaging	Het
Mis18bp1	A	G	12: 65,195,673 (GRCm39)	I697T	possibly damaging	Het
Nek5	G	A	8: 22,578,922 (GRCm39)	T415I	probably benign	Het
Neu3	T	A	7: 99,463,435 (GRCm39)	N96I	probably benign	Het
Nxph2	T	C	2: 23,290,107 (GRCm39)	V153A	possibly damaging	Het
Or10a3	A	T	7: 108,480,571 (GRCm39)	F81I	probably damaging	Het
Or5b102	G	A	19: 13,040,638 (GRCm39)		probably benign	Het
Or8b4	A	G	9: 37,830,460 (GRCm39)	D169G	probably benign	Het
Otogl	T	C	10: 107,644,476 (GRCm39)	T1257A	probably benign	Het
Pcdh10	G	A	3: 45,333,694 (GRCm39)	V3M	probably benign	Het
Pitpnm1	G	A	19: 4,162,145 (GRCm39)	R1017Q	probably null	Het
Plcb3	A	C	19: 6,932,463 (GRCm39)	H1065Q	probably benign	Het
Plcb3	A	T	19: 6,936,267 (GRCm39)	M752K	probably damaging	Het
Plch1	T	C	3: 63,605,557 (GRCm39)	E1449G	probably benign	Het
Plekha4	T	A	7: 45,198,695 (GRCm39)	C573S	probably benign	Het
Plin2	T	C	4: 86,575,638 (GRCm39)	I304V	possibly damaging	Het
Pnp2	G	A	14: 51,201,838 (GRCm39)	V275I	probably benign	Het
Polr1a	G	A	6: 71,908,644 (GRCm39)	A490T	possibly damaging	Het
Ppp1r12b	A	G	1: 134,883,354 (GRCm39)	F56S	probably damaging	Het
Ptk2	GA	G	15: 73,170,048 (GRCm39)		probably null	Het
Rb1cc1	C	A	1: 6,315,443 (GRCm39)	R473S	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rdx	T	C	9: 51,976,946 (GRCm39)	V65A	probably damaging	Het
Rpl27rt	T	C	18: 34,870,582 (GRCm39)	F39L	probably damaging	Het
Rps6ka5	A	G	12: 100,540,055 (GRCm39)		probably null	Het
Samd5	C	T	10: 9,550,641 (GRCm39)	V23M	probably damaging	Het
Scn9a	T	G	2: 66,345,774 (GRCm39)	R1117S	probably benign	Het
Scrn1	T	A	6: 54,497,758 (GRCm39)	I278L	probably benign	Het
Sec31b	G	T	19: 44,507,804 (GRCm39)	P747T	probably damaging	Het
Sipa1l2	A	T	8: 126,195,269 (GRCm39)	V823E	probably damaging	Het
Slc2a13	T	C	15: 91,400,619 (GRCm39)	N201S	probably damaging	Het
Slc30a3	C	A	5: 31,247,395 (GRCm39)		probably benign	Het
Snx31	C	A	15: 36,523,606 (GRCm39)	V359F	probably damaging	Het
Sstr2	A	G	11: 113,515,099 (GRCm39)	E6G	probably benign	Het
Stc2	C	A	11: 31,317,806 (GRCm39)	E72*	probably null	Het
Tead1	C	T	7: 112,358,721 (GRCm39)	P11L	probably benign	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tmem63c	A	T	12: 87,118,972 (GRCm39)	K301*	probably null	Het
Tns3	G	C	11: 8,442,773 (GRCm39)	A530G	probably benign	Het
Trat1	T	C	16: 48,562,600 (GRCm39)	D70G	probably damaging	Het
Trex1	T	A	9: 108,887,397 (GRCm39)	E198V	probably damaging	Het
Ttn	T	G	2: 76,570,072 (GRCm39)	R26940S	probably damaging	Het
Uba2	T	C	7: 33,867,835 (GRCm39)	K34R	possibly damaging	Het
Vps13d	A	C	4: 144,701,753 (GRCm39)	M4376R		Het
Zfp157	C	A	5: 138,454,336 (GRCm39)	T178K	probably damaging	Het
Zfp318	T	A	17: 46,710,692 (GRCm39)	V805D	possibly damaging	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
R7840:Gabra4	UTSW	5	71,798,256 (GRCm39)	splice site	probably null
R7899:Gabra4	UTSW	5	71,815,338 (GRCm39)	unclassified	probably benign
R8000:Gabra4	UTSW	5	71,781,304 (GRCm39)	missense	probably damaging	1.00
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'- GCTCTCTGTTTTCTACTACAACAAA -3'
(R):5'- ATTCCTCTCTCGAAGGTGGTG -3'

Sequencing Primer
(F):5'- AAAAATTGACCAAGCAGATAAAACC -3'
(R):5'- ATTAGTAACTTCATCAACTGCATCCC -3'

Posted On

2020-01-23