Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Gabrb2'

342210

Institutional Source

Beutler Lab

Gene Symbol

Gabrb2

Ensembl Gene

ENSMUSG00000007653

Gene Name

gamma-aminobutyric acid (GABA) A receptor, subunit beta 2

Synonyms

C030002O17Rik, C030021G16Rik, Gabrb-2

MMRRC Submission

041796-MU

Accession Numbers

Genbank: NM_008070

Essential gene?

Possibly non essential (E-score: 0.460) question?

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42419757-42629028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42593917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 267 (N267S)

Ref Sequence

ENSEMBL: ENSMUSP00000141868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007797] [ENSMUST00000192403]

AlphaFold

P63137

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007797
AA Change: N267S

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: N267S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Neur_chan_LBD	36	242	8.7e-52	PFAM
Pfam:Neur_chan_memb	249	469	7.5e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192403
AA Change: N267S

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: N267S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Neur_chan_LBD	36	242	1.1e-54	PFAM
Pfam:Neur_chan_memb	249	507	6.6e-55	PFAM

Meta Mutation Damage Score

0.2822

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show hyperactivity and abnormal GABA-mediated receptor currents. Homozygotes for a derivative of this allele show a sexually dimorphic cochlear phenotype associated with OHC dysfunction. Homozygotes for a knock-in allele show altered behavioral response to etomidate. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(1)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	probably benign	Het

Other mutations in Gabrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02275:Gabrb2	APN	11	42591894	missense	probably benign	0.00
IGL02666:Gabrb2	APN	11	42529495	critical splice donor site	probably null
IGL02983:Gabrb2	APN	11	42421400	missense	probably benign	0.00
IGL03357:Gabrb2	APN	11	42591944	missense	probably damaging	1.00
H2330:Gabrb2	UTSW	11	42421431	splice site	probably benign
R0049:Gabrb2	UTSW	11	42593847	missense	probably damaging	1.00
R0049:Gabrb2	UTSW	11	42593847	missense	probably damaging	1.00
R0100:Gabrb2	UTSW	11	42487314	missense	probably damaging	1.00
R1423:Gabrb2	UTSW	11	42529471	missense	probably damaging	1.00
R1526:Gabrb2	UTSW	11	42591888	missense	possibly damaging	0.83
R1856:Gabrb2	UTSW	11	42626713	missense	probably benign	0.01
R1898:Gabrb2	UTSW	11	42593832	missense	possibly damaging	0.51
R2184:Gabrb2	UTSW	11	42421428	critical splice donor site	probably null
R2371:Gabrb2	UTSW	11	42591864	missense	probably damaging	1.00
R2915:Gabrb2	UTSW	11	42591907	missense	probably benign
R2993:Gabrb2	UTSW	11	42597649	missense	probably damaging	0.99
R3951:Gabrb2	UTSW	11	42626881	missense	probably damaging	1.00
R4167:Gabrb2	UTSW	11	42421328	unclassified	probably benign
R4168:Gabrb2	UTSW	11	42421328	unclassified	probably benign
R4497:Gabrb2	UTSW	11	42597694	missense	probably benign	0.05
R4784:Gabrb2	UTSW	11	42597642	missense	probably damaging	1.00
R4792:Gabrb2	UTSW	11	42529503	splice site	probably benign
R5345:Gabrb2	UTSW	11	42626809	missense	possibly damaging	0.54
R5346:Gabrb2	UTSW	11	42421389	missense	probably benign
R5575:Gabrb2	UTSW	11	42529538	intron	probably benign
R5701:Gabrb2	UTSW	11	42487374	missense	probably damaging	1.00
R5801:Gabrb2	UTSW	11	42421389	missense	probably benign	0.00
R5965:Gabrb2	UTSW	11	42626869	missense	probably damaging	1.00
R6738:Gabrb2	UTSW	11	42593931	missense	possibly damaging	0.95
R6930:Gabrb2	UTSW	11	42597613	missense	probably damaging	1.00
R7011:Gabrb2	UTSW	11	42626661	missense	possibly damaging	0.76
R7045:Gabrb2	UTSW	11	42593931	missense	probably damaging	1.00
R7615:Gabrb2	UTSW	11	42626742	missense	probably benign	0.06
R7653:Gabrb2	UTSW	11	42487212	missense	probably damaging	1.00
R7866:Gabrb2	UTSW	11	42487223	nonsense	probably null
R8094:Gabrb2	UTSW	11	42597543	missense	probably damaging	0.98
R8402:Gabrb2	UTSW	11	42487304	missense	probably damaging	1.00
R8488:Gabrb2	UTSW	11	42626664	missense	possibly damaging	0.85
R8851:Gabrb2	UTSW	11	42421359	missense	probably benign
R9123:Gabrb2	UTSW	11	42591866	missense	probably damaging	0.97
R9125:Gabrb2	UTSW	11	42591866	missense	probably damaging	0.97
R9186:Gabrb2	UTSW	11	42487373	missense	possibly damaging	0.51
R9672:Gabrb2	UTSW	11	42421380	missense	probably benign	0.00
R9746:Gabrb2	UTSW	11	42626609	missense	probably benign	0.00
RF008:Gabrb2	UTSW	11	42626878	missense	probably damaging	1.00
X0020:Gabrb2	UTSW	11	42422646	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TAAAACACCTGGGATCTCAGAC -3'
(R):5'- ACCGCAAAATTCTGTGTGAGG -3'

Sequencing Primer
(F):5'- CACCTGGGATCTCAGACTATATTTAC -3'
(R):5'- CCGCAAAATTCTGTGTGAGGAAAGG -3'

Posted On

2015-09-24