Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01341:Glra2'

74846

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glra2

Ensembl Gene

ENSMUSG00000018589

Gene Name

glycine receptor, alpha 2 subunit

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

IGL01341

Quality Score

Status

Chromosome

Chromosomal Location

163912013-164110389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164107562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 46 (D46G)

Ref Sequence

ENSEMBL: ENSMUSP00000060827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058787]

AlphaFold

Q7TNC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000058787
AA Change: D46G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060827
Gene: ENSMUSG00000018589
AA Change: D46G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Neur_chan_LBD	44	254	1.6e-55	PFAM
Pfam:Neur_chan_memb	261	373	3.4e-35	PFAM
transmembrane domain	424	441	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a null allele lack cortical neuron responses to glycine and taurine but are otherwise normal. Mice homozygous for another targeted allele exhibit impaired interneuron migration into the cortical wall. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,067 (GRCm39)	H3450Q	probably benign	Het
Arcn1	A	G	9: 44,668,489 (GRCm39)	I249T	possibly damaging	Het
Arhgef5	G	A	6: 43,260,925 (GRCm39)	R1450H	probably damaging	Het
Cdh26	A	T	2: 178,099,240 (GRCm39)	D113V	probably damaging	Het
Cnot4	A	G	6: 35,047,189 (GRCm39)	V141A	probably damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Ctsll3	C	T	13: 60,946,813 (GRCm39)	D269N	probably benign	Het
Dnttip2	T	C	3: 122,070,261 (GRCm39)	I492T	probably damaging	Het
Gimap8	A	G	6: 48,635,701 (GRCm39)	S489G	probably damaging	Het
Gm7094	A	G	1: 21,343,107 (GRCm39)		noncoding transcript	Het
Gmps	T	C	3: 63,922,861 (GRCm39)	I608T	probably damaging	Het
Gzma	A	G	13: 113,230,418 (GRCm39)		probably benign	Het
H2-Q4	T	A	17: 35,601,978 (GRCm39)	V280E	probably damaging	Het
Jak1	C	T	4: 101,032,290 (GRCm39)	G439S	probably damaging	Het
Kars1	T	C	8: 112,721,606 (GRCm39)	I556V	probably benign	Het
Kifc2	T	C	15: 76,547,098 (GRCm39)		probably null	Het
Kit	T	C	5: 75,767,734 (GRCm39)	I39T	probably damaging	Het
Map3k6	G	T	4: 132,975,371 (GRCm39)	R702L	possibly damaging	Het
Marveld3	T	A	8: 110,675,049 (GRCm39)	T256S	possibly damaging	Het
Nkd1	G	A	8: 89,318,180 (GRCm39)		probably benign	Het
Or5aq6	T	A	2: 86,923,643 (GRCm39)	I33L	probably benign	Het
Or6c212	G	A	10: 129,558,747 (GRCm39)	T222I	possibly damaging	Het
Pax2	A	G	19: 44,779,127 (GRCm39)	S167G	probably damaging	Het
Pdlim3	T	A	8: 46,368,277 (GRCm39)	D258E	probably benign	Het
Ppip5k1	A	T	2: 121,173,691 (GRCm39)	C393*	probably null	Het
Pxdn	T	C	12: 30,052,486 (GRCm39)	S888P	probably damaging	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Reln	T	A	5: 22,174,077 (GRCm39)	I2009F	probably damaging	Het
Sec23b	T	C	2: 144,427,653 (GRCm39)	S627P	probably benign	Het
Slc2a8	T	A	2: 32,866,003 (GRCm39)	Q39L	probably damaging	Het
Tmem143	T	C	7: 45,565,558 (GRCm39)	Y340H	probably damaging	Het
Ttn	A	G	2: 76,560,663 (GRCm39)	V29246A	probably damaging	Het
Wdr81	T	C	11: 75,336,427 (GRCm39)	D1654G	probably damaging	Het
Zbtb11	T	G	16: 55,811,294 (GRCm39)	L484R	possibly damaging	Het
Zcchc8	A	G	5: 123,842,632 (GRCm39)	V367A	probably benign	Het

Other mutations in Glra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Glra2	APN	X	164,072,633 (GRCm39)	missense	possibly damaging	0.81
IGL02590:Glra2	APN	X	164,037,222 (GRCm39)	missense	probably benign	0.05
R3837:Glra2	UTSW	X	164,072,612 (GRCm39)	missense	probably benign	0.00
R3839:Glra2	UTSW	X	164,072,612 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07