Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Gabrb1'

575066

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

MMRRC Submission

045492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71815456-72306380 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72279538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031122 (fasta)

Gene Model

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

AlphaFold

P50571

Predicted Effect

probably null
Transcript: ENSMUST00000031122

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,241 (GRCm39)	T276I	possibly damaging	Het
Abca17	A	G	17: 24,547,543 (GRCm39)	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,134,280 (GRCm39)		probably null	Het
Abcc12	C	A	8: 87,287,479 (GRCm39)	R122L	possibly damaging	Het
Abcc8	A	G	7: 45,815,341 (GRCm39)		probably null	Het
Adam28	C	T	14: 68,864,396 (GRCm39)	R469K	probably damaging	Het
Adamts18	T	C	8: 114,504,362 (GRCm39)	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,791,754 (GRCm39)	S619P	probably damaging	Het
Alpk3	A	T	7: 80,742,600 (GRCm39)	T806S	probably benign	Het
Armh3	A	C	19: 45,953,874 (GRCm39)	V170G	probably benign	Het
Atoh1	T	A	6: 64,706,914 (GRCm39)	I203N	probably damaging	Het
Cables1	A	G	18: 11,973,572 (GRCm39)	E237G	probably benign	Het
Cacna1d	A	G	14: 30,074,947 (GRCm39)	M1T	probably null	Het
Ccdc91	C	T	6: 147,493,696 (GRCm39)	Q363*	probably null	Het
Cdhr17	A	T	5: 17,029,763 (GRCm39)	T500S	possibly damaging	Het
Ceacam5	T	A	7: 17,484,678 (GRCm39)	D473E	probably damaging	Het
Cfap54	T	A	10: 92,704,617 (GRCm39)	D2821V	unknown	Het
Clca3a2	A	G	3: 144,507,860 (GRCm39)	S737P	probably damaging	Het
Clec4n	T	A	6: 123,209,145 (GRCm39)	M70K	probably benign	Het
Dnai3	A	G	3: 145,802,900 (GRCm39)	V97A	probably damaging	Het
Dstyk	G	A	1: 132,345,404 (GRCm39)	G21S	probably benign	Het
Efcab3	T	G	11: 104,890,549 (GRCm39)	N4210K	probably benign	Het
Enpp5	A	G	17: 44,392,366 (GRCm39)	D265G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Guk1	A	G	11: 59,076,811 (GRCm39)	F91L		Het
Ints1	C	T	5: 139,750,015 (GRCm39)	E961K	possibly damaging	Het
Irx2	T	A	13: 72,777,182 (GRCm39)	M1K	probably null	Het
Jrk	C	T	15: 74,579,048 (GRCm39)	R79H	possibly damaging	Het
Kcnu1	G	T	8: 26,382,116 (GRCm39)	V489L	probably damaging	Het
Kctd7	C	T	5: 130,181,265 (GRCm39)	T209M	probably benign	Het
Kdm5a	T	A	6: 120,403,776 (GRCm39)	V1127E	probably damaging	Het
Klk6	A	G	7: 43,476,367 (GRCm39)	H69R	probably damaging	Het
Lck	T	C	4: 129,445,763 (GRCm39)	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,496,734 (GRCm39)	L276P	probably damaging	Het
Med25	A	G	7: 44,527,667 (GRCm39)	W730R	probably damaging	Het
Muc4	T	C	16: 32,570,140 (GRCm39)	V400A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myt1	C	A	2: 181,456,899 (GRCm39)	H906Q	probably damaging	Het
Ncl	A	T	1: 86,278,564 (GRCm39)	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,713,009 (GRCm39)	T216N	probably benign	Het
Nos2	G	A	11: 78,835,681 (GRCm39)		probably null	Het
Nphp4	T	A	4: 152,639,174 (GRCm39)	I935N	probably benign	Het
Ntn1	G	A	11: 68,276,915 (GRCm39)	A11V	probably benign	Het
Or2t26	A	T	11: 49,039,821 (GRCm39)	M246L	probably benign	Het
Or4c10b	T	C	2: 89,711,605 (GRCm39)	V145A	probably damaging	Het
Pate11	T	C	9: 36,386,980 (GRCm39)	V16A	possibly damaging	Het
Pcdha12	A	G	18: 37,154,661 (GRCm39)	Y460C	probably damaging	Het
Pcdha4	G	T	18: 37,086,111 (GRCm39)	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,103,398 (GRCm39)	S234P	probably damaging	Het
Pmfbp1	A	T	8: 110,240,503 (GRCm39)	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,502,125 (GRCm39)	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,511,273 (GRCm39)		probably null	Het
Rhbdl2	G	A	4: 123,723,435 (GRCm39)	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Sema3a	T	G	5: 13,566,230 (GRCm39)	Y171*	probably null	Het
Set	A	G	2: 29,956,897 (GRCm39)	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,608,057 (GRCm39)	D229E	probably benign	Het
Slc12a2	A	T	18: 58,074,085 (GRCm39)	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,954,688 (GRCm39)	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slc6a20b	A	G	9: 123,434,013 (GRCm39)	I275T	probably benign	Het
Speer1e	T	A	5: 11,233,116 (GRCm39)		probably null	Het
Stradb	A	C	1: 59,027,677 (GRCm39)	D69A	possibly damaging	Het
Supt16	A	T	14: 52,415,508 (GRCm39)	V409E	probably damaging	Het
Tcea2	A	G	2: 181,328,457 (GRCm39)	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,033,072 (GRCm39)	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,668,116 (GRCm39)	H117L	probably benign	Het
Vps13c	T	A	9: 67,879,283 (GRCm39)	M3408K	probably damaging	Het
Wdfy4	A	C	14: 32,828,088 (GRCm39)	M1078R		Het
Ypel5	G	A	17: 73,153,439 (GRCm39)		probably null	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
PIT4515001:Gabrb1	UTSW	5	71,858,160 (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
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'- CCCTTACGTCAAAGCGATTG -3'
(R):5'- ATGCGCACACACTATGGTTG -3'

Sequencing Primer
(F):5'- AGCGATTGACATCTATCTCATGGGC -3'
(R):5'- AAACTGCATTCCCAGTGTGG -3'

Posted On

2019-10-07