Mutagenetix > Incidental Mutation

Incidental Mutation 'R6236:Gabrb1'

504938

Institutional Source

Beutler Lab

Gene Symbol

Gabrb1

Ensembl Gene

ENSMUSG00000029212

Gene Name

gamma-aminobutyric acid (GABA) A receptor, subunit beta 1

Synonyms

Gabrb-1, B230208N19Rik

MMRRC Submission

044400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71658113-72149037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72108320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 186 (T186M)

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: T186M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: T186M

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 benign
Transcript: ENSMUST00000199967
AA Change: T153M

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212
AA Change: T153M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,905,207	T703A	possibly damaging	Het
Acd	C	T	8: 105,700,495	A49T	probably benign	Het
Acer1	T	A	17: 56,955,231	I224F	probably benign	Het
Acvr1	T	C	2: 58,477,666	D161G	probably benign	Het
Catsper4	T	C	4: 134,221,576	I111V	probably benign	Het
Ccdc173	A	C	2: 69,758,041		probably null	Het
Chst14	T	A	2: 118,927,516	C264S	probably damaging	Het
Clnk	T	C	5: 38,713,199	T339A	probably benign	Het
Cnot4	T	C	6: 35,068,673	K201R	probably benign	Het
Col19a1	A	G	1: 24,279,949	V1020A	probably damaging	Het
Cts6	C	A	13: 61,196,378	E287*	probably null	Het
Dbf4	T	C	5: 8,398,579		probably benign	Het
Diaph3	G	A	14: 87,037,568	R140*	probably null	Het
Faah	T	C	4: 115,999,589	I459V	probably benign	Het
Fbxw2	A	T	2: 34,822,833	L72H	probably damaging	Het
Fstl4	G	A	11: 53,186,335	G640S	probably benign	Het
Gata2	T	C	6: 88,202,566		probably null	Het
Ifi203	A	G	1: 173,933,913	V190A	probably benign	Het
Kdm3a	T	C	6: 71,611,657	E456G	probably benign	Het
Kl	A	T	5: 150,953,290	T192S	probably damaging	Het
Klhl3	G	A	13: 58,085,062	A77V	probably damaging	Het
Klri2	A	G	6: 129,738,895	F114L	probably benign	Het
Lonp2	A	T	8: 86,636,587	R278*	probably null	Het
Lrp5	A	T	19: 3,630,483		probably null	Het
Med13	T	A	11: 86,328,531	H363L	probably damaging	Het
Metap1d	T	G	2: 71,515,678	F194L	probably benign	Het
Misp	A	G	10: 79,827,122	K458E	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Myh2	A	G	11: 67,190,331	T1258A	probably benign	Het
Nipbl	T	A	15: 8,324,580	D1691V	possibly damaging	Het
Nr1i2	C	T	16: 38,265,938	C55Y	probably damaging	Het
Olfr746	T	C	14: 50,653,800	S188P	probably damaging	Het
Olfr836	A	T	9: 19,121,113	I50F	possibly damaging	Het
Pcdhgb4	T	C	18: 37,721,292	Y247H	probably damaging	Het
Prmt6	T	C	3: 110,249,898	I358M	probably benign	Het
Ric1	T	A	19: 29,595,426	D755E	possibly damaging	Het
Sez6l	G	T	5: 112,475,244	T147K	possibly damaging	Het
Ski	A	G	4: 155,159,544	F451S	probably benign	Het
Slc45a2	C	T	15: 11,022,072	T300I	probably benign	Het
Smarca2	T	C	19: 26,696,213	V1050A	probably benign	Het
Spag1	T	C	15: 36,211,135	S476P	probably damaging	Het
Sptbn2	T	A	19: 4,748,138	S1964T	probably benign	Het
Sucla2	T	A	14: 73,593,750	D434E	probably benign	Het
Tbl3	G	A	17: 24,700,743	T779I	probably benign	Het
Tlr2	T	A	3: 83,838,131	E215V	probably benign	Het
Tomm40	G	A	7: 19,703,356	P227S	probably benign	Het
Tpp2	T	A	1: 43,977,317	S711T	probably benign	Het
Traj32	T	A	14: 54,186,108	Y2*	probably null	Het
Trim34b	A	G	7: 104,336,318	R387G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Usp5	T	C	6: 124,818,478	T651A	probably benign	Het
Vmn1r188	T	C	13: 22,088,244	S123P	probably damaging	Het
Zdhhc14	T	C	17: 5,493,643	L66P	probably damaging	Het
Zfp712	C	T	13: 67,040,621	C614Y	probably damaging	Het
Zfp827	A	G	8: 79,070,476	K397R	probably damaging	Het

Other mutations in Gabrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Gabrb1	APN	5	72,108,446 (GRCm38)	critical splice donor site	probably null
IGL00774:Gabrb1	APN	5	72,108,446 (GRCm38)	critical splice donor site	probably null
IGL01534:Gabrb1	APN	5	71,869,429 (GRCm38)	missense	possibly damaging	0.95
IGL02170:Gabrb1	APN	5	72,136,730 (GRCm38)	missense	probably damaging	1.00
IGL02326:Gabrb1	APN	5	71,700,847 (GRCm38)	missense	probably damaging	0.99
IGL03278:Gabrb1	APN	5	71,869,596 (GRCm38)	missense	probably damaging	1.00
IGL03345:Gabrb1	APN	5	72,136,565 (GRCm38)	missense	possibly damaging	0.53
IGL03050:Gabrb1	UTSW	5	72,122,154 (GRCm38)	missense	probably benign	0.03
PIT4445001:Gabrb1	UTSW	5	72,108,782 (GRCm38)	missense	probably damaging	1.00
PIT4515001:Gabrb1	UTSW	5	71,700,817 (GRCm38)	missense	probably damaging	1.00
R0109:Gabrb1	UTSW	5	72,121,946 (GRCm38)	splice site	probably benign
R0386:Gabrb1	UTSW	5	72,108,807 (GRCm38)	missense	probably damaging	0.99
R1512:Gabrb1	UTSW	5	72,108,705 (GRCm38)	missense	probably damaging	1.00
R1512:Gabrb1	UTSW	5	72,108,704 (GRCm38)	missense	probably damaging	1.00
R1717:Gabrb1	UTSW	5	72,108,351 (GRCm38)	splice site	probably null
R1832:Gabrb1	UTSW	5	72,121,938 (GRCm38)	splice site	probably null
R1961:Gabrb1	UTSW	5	71,700,336 (GRCm38)	missense	probably benign	0.28
R2363:Gabrb1	UTSW	5	71,869,573 (GRCm38)	nonsense	probably null
R4686:Gabrb1	UTSW	5	71,700,022 (GRCm38)	missense	possibly damaging	0.53
R4840:Gabrb1	UTSW	5	71,700,811 (GRCm38)	missense	probably damaging	1.00
R4916:Gabrb1	UTSW	5	71,869,421 (GRCm38)	missense	probably damaging	1.00
R4941:Gabrb1	UTSW	5	72,136,778 (GRCm38)	missense	probably damaging	1.00
R5250:Gabrb1	UTSW	5	71,869,579 (GRCm38)	missense	possibly damaging	0.80
R5270:Gabrb1	UTSW	5	72,108,326 (GRCm38)	missense	probably damaging	1.00
R5364:Gabrb1	UTSW	5	72,136,762 (GRCm38)	missense	probably benign	0.33
R5407:Gabrb1	UTSW	5	72,122,021 (GRCm38)	missense	possibly damaging	0.90
R5621:Gabrb1	UTSW	5	72,108,728 (GRCm38)	missense	probably damaging	1.00
R5790:Gabrb1	UTSW	5	72,136,484 (GRCm38)	missense	possibly damaging	0.53
R6336:Gabrb1	UTSW	5	72,029,898 (GRCm38)	missense	possibly damaging	0.72
R7411:Gabrb1	UTSW	5	72,122,195 (GRCm38)	critical splice donor site	probably null
R8375:Gabrb1	UTSW	5	72,029,829 (GRCm38)	missense	probably damaging	0.98
R9161:Gabrb1	UTSW	5	72,029,856 (GRCm38)	missense	probably damaging	0.98
R9474:Gabrb1	UTSW	5	72,108,347 (GRCm38)	missense	probably damaging	1.00
R9621:Gabrb1	UTSW	5	72,122,020 (GRCm38)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GTTCCCTAAAGCCAGATGCATCG -3'
(R):5'- TCTCTCTTTCACAACGCACAAG -3'

Sequencing Primer
(F):5'- TCAATGCAGGCTCTCCTAAG -3'
(R):5'- TCACAACGCACAAGTTATTAGTGAGG -3'

Posted On

2018-02-28