Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4515001:Gabrb1'

556299

Institutional Source

Beutler Lab

Gene Symbol

Gabrb1

Ensembl Gene

ENSMUSG00000029212

Gene Name

gamma-aminobutyric acid type A receptor subunit beta 1

Synonyms

Gabrb-1, B230208N19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4515001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71815456-72306380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71858160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 62 (D62A)

Ref Sequence

ENSEMBL: ENSMUSP00000031122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031122] [ENSMUST00000199967]

AlphaFold

P50571

Predicted Effect

probably damaging
Transcript: ENSMUST00000031122
AA Change: D62A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: D62A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Neur_chan_LBD	37	243	7.1e-52	PFAM
Pfam:Neur_chan_memb	250	469	2.4e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199967
AA Change: D29A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212
AA Change: D29A

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	4	210	4.8e-51	PFAM

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 86.0%
20x: 75.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,068 (GRCm39)	R966*	probably null	Het
Adam32	A	T	8: 25,404,342 (GRCm39)	I221K	possibly damaging	Het
Adcy6	T	C	15: 98,493,027 (GRCm39)	T880A	probably benign	Het
Agpat5	T	A	8: 18,896,657 (GRCm39)	Y28N	probably damaging	Het
Atg2a	A	G	19: 6,303,615 (GRCm39)	I1125V	probably damaging	Het
B4galt6	A	G	18: 20,821,524 (GRCm39)	Y335H	probably benign	Het
Bend3	A	T	10: 43,386,630 (GRCm39)	E341V	probably damaging	Het
Bltp1	T	A	3: 37,028,385 (GRCm39)	Y2351N	probably damaging	Het
Ccdc136	T	A	6: 29,417,225 (GRCm39)	V682E	probably benign	Het
Ccdc142	T	C	6: 83,080,238 (GRCm39)	C394R	probably benign	Het
Cfap58	A	G	19: 48,023,122 (GRCm39)	N845D	probably benign	Het
Col4a3	G	A	1: 82,660,024 (GRCm39)	G890R	unknown	Het
Cyp1a2	C	A	9: 57,589,242 (GRCm39)	V191L	probably benign	Het
Cyp51	A	T	5: 4,149,122 (GRCm39)		probably null	Het
Diras2	T	C	13: 52,661,783 (GRCm39)	S175G	possibly damaging	Het
Dnah6	A	G	6: 73,091,565 (GRCm39)	F2242S	probably damaging	Het
Erg	T	A	16: 95,210,619 (GRCm39)	N78Y	probably benign	Het
Fdft1	T	A	14: 63,402,032 (GRCm39)	Q49L	probably benign	Het
Frem1	G	T	4: 82,818,663 (GRCm39)	H2183Q	probably damaging	Het
Fut2	G	A	7: 45,299,890 (GRCm39)	T294I	probably damaging	Het
Gbe1	T	A	16: 70,238,004 (GRCm39)	Y263*	probably null	Het
Gimap6	T	C	6: 48,679,502 (GRCm39)	D178G	probably benign	Het
Gss	T	A	2: 155,420,261 (GRCm39)	T147S	probably damaging	Het
Hlcs	A	T	16: 94,068,275 (GRCm39)	V315E	probably benign	Het
Hoxa3	C	T	6: 52,147,164 (GRCm39)	G363E	unknown	Het
Ift140	A	G	17: 25,305,834 (GRCm39)	N807S	probably damaging	Het
Iglc1	T	G	16: 18,880,701 (GRCm39)	D40A		Het
Itga10	T	A	3: 96,569,948 (GRCm39)	I1120N	probably damaging	Het
Jak3	T	C	8: 72,132,286 (GRCm39)	V217A	probably benign	Het
Kank2	T	G	9: 21,706,179 (GRCm39)	I280L	probably benign	Het
Kcnk1	G	T	8: 126,752,081 (GRCm39)	G229V	probably damaging	Het
Kpna7	T	C	5: 144,941,862 (GRCm39)	T143A	probably benign	Het
Letmd1	C	T	15: 100,374,683 (GRCm39)	R310C	probably damaging	Het
Mga	G	A	2: 119,746,985 (GRCm39)	V379I	probably damaging	Het
Mto1	T	A	9: 78,364,699 (GRCm39)	Y313N	probably damaging	Het
Muc5ac	G	A	7: 141,361,153 (GRCm39)	C1488Y	probably damaging	Het
Nde1	T	A	16: 13,988,357 (GRCm39)		probably null	Het
Nfatc3	T	C	8: 106,805,835 (GRCm39)	S235P	possibly damaging	Het
Nup88	T	C	11: 70,835,547 (GRCm39)	D602G	probably benign	Het
Or11g25	T	A	14: 50,723,536 (GRCm39)	M207K	probably benign	Het
Or2h1b	A	C	17: 37,462,270 (GRCm39)	S198A	probably benign	Het
Pcnx1	G	A	12: 82,038,561 (GRCm39)	C1309Y		Het
Phldb1	A	G	9: 44,627,257 (GRCm39)	I396T	probably benign	Het
Pramel38	T	C	5: 94,368,831 (GRCm39)	M442T	probably benign	Het
Pramel41	A	C	5: 94,594,694 (GRCm39)	K185Q	probably benign	Het
Prss53	G	A	7: 127,487,963 (GRCm39)	T173I	probably benign	Het
Ptpn11	C	A	5: 121,302,617 (GRCm39)	D156Y	probably damaging	Het
Rfx8	A	G	1: 39,729,265 (GRCm39)	Y167H	probably benign	Het
Rpsa	T	A	9: 119,960,214 (GRCm39)	I259N	probably benign	Het
Rrm2b	G	T	15: 37,947,048 (GRCm39)	D84E	probably benign	Het
Scgb2b19	A	T	7: 32,979,036 (GRCm39)		probably null	Het
Sik3	T	C	9: 46,120,029 (GRCm39)	L706P	probably damaging	Het
Slc4a4	A	T	5: 89,281,112 (GRCm39)	E426D	probably damaging	Het
Slc8a2	C	A	7: 15,874,504 (GRCm39)	L251I	possibly damaging	Het
Taf6	T	C	5: 138,180,504 (GRCm39)	K287E	probably benign	Het
Tiam1	G	A	16: 89,657,130 (GRCm39)	T702I	probably damaging	Het
Tle1	A	T	4: 72,117,556 (GRCm39)	F35I	possibly damaging	Het
Tle2	A	G	10: 81,422,964 (GRCm39)	Q454R	possibly damaging	Het
Tsc2	T	C	17: 24,840,121 (GRCm39)	N425S	probably benign	Het
Utp3	A	G	5: 88,702,564 (GRCm39)	D31G	probably benign	Het
Vmn1r173	A	T	7: 23,401,911 (GRCm39)	R49*	probably null	Het
Ybx2	T	A	11: 69,831,224 (GRCm39)	V273E	probably benign	Het
Zbtb22	G	A	17: 34,137,672 (GRCm39)	A606T	probably benign	Het
Zcchc8	A	T	5: 123,838,995 (GRCm39)	D514E	probably benign	Het
Zfy2	T	A	Y: 2,117,096 (GRCm39)	I244F	probably benign	Het
Zglp1	T	C	9: 20,977,485 (GRCm39)	N110S	probably benign	Het

Other mutations in Gabrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Gabrb1	APN	5	72,265,789 (GRCm39)	critical splice donor site	probably null
IGL00774:Gabrb1	APN	5	72,265,789 (GRCm39)	critical splice donor site	probably null
IGL01534:Gabrb1	APN	5	72,026,772 (GRCm39)	missense	possibly damaging	0.95
IGL02170:Gabrb1	APN	5	72,294,073 (GRCm39)	missense	probably damaging	1.00
IGL02326:Gabrb1	APN	5	71,858,190 (GRCm39)	missense	probably damaging	0.99
IGL03278:Gabrb1	APN	5	72,026,939 (GRCm39)	missense	probably damaging	1.00
IGL03345:Gabrb1	APN	5	72,293,908 (GRCm39)	missense	possibly damaging	0.53
IGL03050:Gabrb1	UTSW	5	72,279,497 (GRCm39)	missense	probably benign	0.03
PIT4445001:Gabrb1	UTSW	5	72,266,125 (GRCm39)	missense	probably damaging	1.00
R0109:Gabrb1	UTSW	5	72,279,289 (GRCm39)	splice site	probably benign
R0386:Gabrb1	UTSW	5	72,266,150 (GRCm39)	missense	probably damaging	0.99
R1512:Gabrb1	UTSW	5	72,266,048 (GRCm39)	missense	probably damaging	1.00
R1512:Gabrb1	UTSW	5	72,266,047 (GRCm39)	missense	probably damaging	1.00
R1717:Gabrb1	UTSW	5	72,265,694 (GRCm39)	splice site	probably null
R1832:Gabrb1	UTSW	5	72,279,281 (GRCm39)	splice site	probably null
R1961:Gabrb1	UTSW	5	71,857,679 (GRCm39)	missense	probably benign	0.28
R2363:Gabrb1	UTSW	5	72,026,916 (GRCm39)	nonsense	probably null
R4686:Gabrb1	UTSW	5	71,857,365 (GRCm39)	missense	possibly damaging	0.53
R4840:Gabrb1	UTSW	5	71,858,154 (GRCm39)	missense	probably damaging	1.00
R4916:Gabrb1	UTSW	5	72,026,764 (GRCm39)	missense	probably damaging	1.00
R4941:Gabrb1	UTSW	5	72,294,121 (GRCm39)	missense	probably damaging	1.00
R5250:Gabrb1	UTSW	5	72,026,922 (GRCm39)	missense	possibly damaging	0.80
R5270:Gabrb1	UTSW	5	72,265,669 (GRCm39)	missense	probably damaging	1.00
R5364:Gabrb1	UTSW	5	72,294,105 (GRCm39)	missense	probably benign	0.33
R5407:Gabrb1	UTSW	5	72,279,364 (GRCm39)	missense	possibly damaging	0.90
R5621:Gabrb1	UTSW	5	72,266,071 (GRCm39)	missense	probably damaging	1.00
R5790:Gabrb1	UTSW	5	72,293,827 (GRCm39)	missense	possibly damaging	0.53
R6236:Gabrb1	UTSW	5	72,265,663 (GRCm39)	missense	probably damaging	1.00
R6336:Gabrb1	UTSW	5	72,187,241 (GRCm39)	missense	possibly damaging	0.72
R7411:Gabrb1	UTSW	5	72,279,538 (GRCm39)	critical splice donor site	probably null
R8375:Gabrb1	UTSW	5	72,187,172 (GRCm39)	missense	probably damaging	0.98
R9161:Gabrb1	UTSW	5	72,187,199 (GRCm39)	missense	probably damaging	0.98
R9474:Gabrb1	UTSW	5	72,265,690 (GRCm39)	missense	probably damaging	1.00
R9621:Gabrb1	UTSW	5	72,279,363 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGCACTGTCACTGCATCAC -3'
(R):5'- ATACAAACTGTGGGGCGAC -3'

Sequencing Primer
(F):5'- TCACTGCATCACGCGTGTG -3'
(R):5'- CGACCGACAGTGTGTGTAC -3'

Posted On

2019-06-07