Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00557:Glra2'

10970

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 #

IGL00557

Quality Score

Status

Chromosome

Chromosomal Location

163912013-164110389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164072633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 78 (F78L)

Ref Sequence

ENSEMBL: ENSMUSP00000060827 (fasta)

Gene Model

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

AlphaFold

Q7TNC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058787
AA Change: F78L

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060827
Gene: ENSMUSG00000018589
AA Change: F78L

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat3	A	T	10: 78,109,516 (GRCm39)		probably benign	Het
Arhgap35	T	C	7: 16,298,340 (GRCm39)	T242A	probably benign	Het
Asb15	C	A	6: 24,558,649 (GRCm39)	R55S	probably benign	Het
Brca2	C	T	5: 150,484,003 (GRCm39)	R2941W	probably benign	Het
Chrng	T	C	1: 87,134,469 (GRCm39)	V135A	probably damaging	Het
Corin	G	T	5: 72,462,231 (GRCm39)	H859Q	probably damaging	Het
Cul7	A	G	17: 46,963,434 (GRCm39)	E208G	probably damaging	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Ell2	T	A	13: 75,904,409 (GRCm39)	I166N	probably damaging	Het
Fsip2	A	G	2: 82,821,657 (GRCm39)	R5797G	possibly damaging	Het
Galntl6	T	C	8: 59,364,451 (GRCm39)	I20V	possibly damaging	Het
Gm12258	A	G	11: 58,746,896 (GRCm39)	D51G	probably benign	Het
Gsta2	T	A	9: 78,238,525 (GRCm39)	K185*	probably null	Het
Hmgcr	C	T	13: 96,795,786 (GRCm39)	D294N	probably benign	Het
Iglv2	A	G	16: 19,079,547 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,776,466 (GRCm39)	L63H	probably damaging	Het
P2ry10b	T	C	X: 106,215,243 (GRCm39)	V201A	probably benign	Het
Psmb2	A	G	4: 126,571,642 (GRCm39)		probably null	Het
Samd4	T	A	14: 47,290,355 (GRCm39)	L154H	probably damaging	Het
Sult2a4	A	T	7: 13,718,870 (GRCm39)	D124E	probably damaging	Het
Trav9-1	A	T	14: 53,725,815 (GRCm39)	Y43F	probably damaging	Het
Trpv2	A	G	11: 62,483,681 (GRCm39)	N506S	probably damaging	Het
Ube3c	T	C	5: 29,824,227 (GRCm39)	S474P	probably damaging	Het
Wdr87-ps	A	G	7: 29,235,227 (GRCm39)		noncoding transcript	Het
Zfp942	A	T	17: 22,148,042 (GRCm39)	C196S	probably benign	Het

Other mutations in Glra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Glra2	APN	X	164,107,562 (GRCm39)	missense	probably damaging	0.97
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

2012-12-06