Mutagenetix > Incidental Mutation

Incidental Mutation 'R9223:Gabrb3'

699594

Institutional Source

Beutler Lab

Gene Symbol

Gabrb3

Ensembl Gene

ENSMUSG00000033676

Gene Name

GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3

Synonyms

A230092K12Rik, Gabrb-3, beta3

MMRRC Submission

068959-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R9223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57240266-57478550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 57466152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 322 (L322R)

Ref Sequence

ENSEMBL: ENSMUSP00000143353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039697] [ENSMUST00000085240] [ENSMUST00000138350] [ENSMUST00000196198]

AlphaFold

P63080

Predicted Effect

probably damaging
Transcript: ENSMUST00000039697
AA Change: L322R

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

SMART Domains

Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
AA Change: L322R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Neur_chan_LBD	37	243	1.3e-53	PFAM
Pfam:Neur_chan_memb	250	468	2.4e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085240
AA Change: L344R

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

SMART Domains

Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
AA Change: L344R

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: ENSMUST00000138350

SMART Domains

Protein: ENSMUSP00000118835
Gene: ENSMUSG00000033676

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	123	2.5e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196198
AA Change: L322R

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

SMART Domains

Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
AA Change: L322R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neur_chan_LBD	37	243	9.7e-54	PFAM
Pfam:Neur_chan_memb	250	468	2e-55	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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 member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mutants die at birth with cleft palate. Survivors show delayed growth, reduced lifespan, seizures, ataxia, hyperactivity, hyperresponsiveness and reduced learning, mothering ability and REM sleep. A point mutation lowers anesthetic effect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	C	A	9: 101,820,193 (GRCm39)	D204E	possibly damaging	Het
Aldh3a2	A	G	11: 61,156,037 (GRCm39)	S80P	probably benign	Het
Bcl6b	A	T	11: 70,117,400 (GRCm39)	Y407*	probably null	Het
Ccn2	T	C	10: 24,471,856 (GRCm39)	V49A	probably benign	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cerkl	A	T	2: 79,171,674 (GRCm39)	C395S	probably damaging	Het
Chst5	C	A	8: 112,617,492 (GRCm39)	V43L	probably benign	Het
Clip1	A	T	5: 123,784,337 (GRCm39)	F271I	probably damaging	Het
Clspn	A	G	4: 126,484,411 (GRCm39)	T1190A	possibly damaging	Het
Col20a1	A	T	2: 180,648,528 (GRCm39)	E938D	probably damaging	Het
Dmrta2	G	A	4: 109,839,779 (GRCm39)	V509M	probably damaging	Het
Dnah7b	T	A	1: 46,361,420 (GRCm39)	M3440K	probably benign	Het
Erlin1	A	G	19: 44,029,184 (GRCm39)		probably null	Het
Fam24b	A	G	7: 130,927,869 (GRCm39)	S107P	probably benign	Het
Fancm	T	A	12: 65,149,358 (GRCm39)	I708N	probably benign	Het
Fbxo11	A	T	17: 88,323,124 (GRCm39)	D12E		Het
Fbxw13	T	C	9: 109,024,116 (GRCm39)	D39G	probably damaging	Het
Gm5239	A	T	18: 35,669,672 (GRCm39)	I13F	possibly damaging	Het
Heatr1	A	G	13: 12,419,802 (GRCm39)	Y375C	probably benign	Het
Helq	A	T	5: 100,946,303 (GRCm39)	S13T	possibly damaging	Het
Helz	A	G	11: 107,509,918 (GRCm39)	T514A	probably benign	Het
Hook3	A	G	8: 26,522,552 (GRCm39)	V32A		Het
Htra4	A	G	8: 25,527,048 (GRCm39)	I249T	possibly damaging	Het
Htt	G	T	5: 35,062,692 (GRCm39)	V2809L	probably benign	Het
Ifi203	T	A	1: 173,765,437 (GRCm39)	I46F	probably benign	Het
Kcna2	A	T	3: 107,012,306 (GRCm39)	I296F	possibly damaging	Het
Kndc1	A	G	7: 139,501,357 (GRCm39)	E882G	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,071 (GRCm39)	D444E	probably benign	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Mdga2	C	T	12: 66,615,634 (GRCm39)	D658N	possibly damaging	Het
Mkrn1	T	C	6: 39,378,183 (GRCm39)	K316R	possibly damaging	Het
Mmd2	C	T	5: 142,553,666 (GRCm39)	C165Y	probably damaging	Het
Mpdz	A	G	4: 81,202,867 (GRCm39)	F1843L	probably damaging	Het
Mrc2	G	A	11: 105,220,093 (GRCm39)	R338Q	probably damaging	Het
Naip5	C	T	13: 100,364,184 (GRCm39)	R372H	probably benign	Het
Nav2	C	A	7: 49,202,599 (GRCm39)	S1461Y	probably damaging	Het
Nol8	T	A	13: 49,814,738 (GRCm39)	V282D	possibly damaging	Het
Nup98	C	A	7: 101,834,167 (GRCm39)	G265V	possibly damaging	Het
Or1ak2	T	C	2: 36,827,911 (GRCm39)	F260S	probably damaging	Het
Or2d3b	A	G	7: 106,513,980 (GRCm39)	T192A	possibly damaging	Het
Or2h15	C	T	17: 38,442,012 (GRCm39)	E24K	possibly damaging	Het
Or4f58	T	A	2: 111,851,517 (GRCm39)	K227N	possibly damaging	Het
Or4f62	T	A	2: 111,986,473 (GRCm39)	M59K	possibly damaging	Het
Or8k18	G	T	2: 86,085,544 (GRCm39)	F164L	possibly damaging	Het
Otogl	T	A	10: 107,690,205 (GRCm39)	E888D	probably damaging	Het
Pcdhgc4	A	G	18: 37,948,685 (GRCm39)	I34V	possibly damaging	Het
Ppp1r12b	T	C	1: 134,807,376 (GRCm39)	R417G	probably benign	Het
Rtn4	A	G	11: 29,656,778 (GRCm39)	S311G	probably benign	Het
Serinc3	A	G	2: 163,478,812 (GRCm39)	V105A	probably benign	Het
Serpina3f	A	G	12: 104,183,444 (GRCm39)	D102G	possibly damaging	Het
Sik3	A	G	9: 46,066,772 (GRCm39)	I184V	probably damaging	Het
Spopfm2	A	C	3: 94,082,950 (GRCm39)	L287R	probably damaging	Het
Tex35	A	T	1: 156,935,436 (GRCm39)	C21S	probably benign	Het
Tfap2b	T	C	1: 19,282,649 (GRCm39)		probably null	Het
Thbs4	C	T	13: 92,897,998 (GRCm39)	C607Y	probably damaging	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tomm70a	T	A	16: 56,963,166 (GRCm39)	M395K	probably benign	Het
Trim43b	A	C	9: 88,967,663 (GRCm39)	H324Q	probably benign	Het
Vmn2r116	A	T	17: 23,620,141 (GRCm39)	Y625F	probably damaging	Het
Yipf3	A	T	17: 46,559,798 (GRCm39)	N38I	probably damaging	Het
Zfp804b	T	A	5: 6,821,496 (GRCm39)	E522D	probably benign	Het

Other mutations in Gabrb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Gabrb3	APN	7	57,466,226 (GRCm39)	missense	probably benign	0.00
IGL01878:Gabrb3	APN	7	57,466,163 (GRCm39)	missense	probably damaging	1.00
IGL02092:Gabrb3	APN	7	57,415,334 (GRCm39)	missense	probably damaging	1.00
IGL02193:Gabrb3	APN	7	57,442,264 (GRCm39)	missense	probably damaging	1.00
IGL02676:Gabrb3	APN	7	57,241,112 (GRCm39)	intron	probably benign
R0325:Gabrb3	UTSW	7	57,415,278 (GRCm39)	missense	probably damaging	1.00
R1560:Gabrb3	UTSW	7	57,466,043 (GRCm39)	missense	probably damaging	0.98
R1562:Gabrb3	UTSW	7	57,415,262 (GRCm39)	nonsense	probably null
R1714:Gabrb3	UTSW	7	57,415,176 (GRCm39)	missense	probably damaging	1.00
R2054:Gabrb3	UTSW	7	57,474,241 (GRCm39)	missense	probably benign	0.04
R4134:Gabrb3	UTSW	7	57,241,036 (GRCm39)	missense	probably benign	0.01
R4135:Gabrb3	UTSW	7	57,241,036 (GRCm39)	missense	probably benign	0.01
R4176:Gabrb3	UTSW	7	57,241,061 (GRCm39)	missense	probably benign	0.00
R4761:Gabrb3	UTSW	7	57,415,250 (GRCm39)	missense	probably damaging	1.00
R4869:Gabrb3	UTSW	7	57,442,207 (GRCm39)	intron	probably benign
R5247:Gabrb3	UTSW	7	57,240,339 (GRCm39)	missense	possibly damaging	0.96
R6935:Gabrb3	UTSW	7	57,241,561 (GRCm39)	missense	probably damaging	0.99
R7479:Gabrb3	UTSW	7	57,474,171 (GRCm39)	missense	possibly damaging	0.74
R7562:Gabrb3	UTSW	7	57,461,926 (GRCm39)	nonsense	probably null
R7692:Gabrb3	UTSW	7	57,466,203 (GRCm39)	missense	probably damaging	1.00
R8530:Gabrb3	UTSW	7	57,461,819 (GRCm39)	missense	probably damaging	1.00
R8819:Gabrb3	UTSW	7	57,442,329 (GRCm39)	missense	probably damaging	1.00
R8820:Gabrb3	UTSW	7	57,442,329 (GRCm39)	missense	probably damaging	1.00
R9651:Gabrb3	UTSW	7	57,415,202 (GRCm39)	missense	probably damaging	1.00
X0064:Gabrb3	UTSW	7	57,461,933 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATGGGAGCATGACTGTG -3'
(R):5'- CCTGGAGTTTTGCCCTAGGAAC -3'

Sequencing Primer
(F):5'- GATCTGAGCTGCGGTACTCATAC -3'
(R):5'- TCCCTGGAGGTGAACCATTAG -3'

Posted On

2022-02-07