Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00835:Glra3'

12633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glra3

Ensembl Gene

ENSMUSG00000038257

Gene Name

glycine receptor, alpha 3 subunit

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

55940460-56130070 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 55940977 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000275]

Predicted Effect

probably benign
Transcript: ENSMUST00000000275

SMART Domains

Protein: ENSMUSP00000000275
Gene: ENSMUSG00000038257

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Neur_chan_LBD	59	269	3.7e-55	PFAM
Pfam:Neur_chan_memb	276	434	1.4e-35	PFAM
PDB:2M6I\|E	437	474	1e-12	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164020

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice are fertile and display decreased inflammatory pain sensitization without any gross abnormalities in the brain or spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,302,733	D1023G	probably damaging	Het
Agbl3	A	G	6: 34,799,732	D391G	probably damaging	Het
Aggf1	C	A	13: 95,362,477	V450F	probably damaging	Het
Alms1	A	G	6: 85,622,134	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,661,358	F192L	probably benign	Het
Arnt	A	G	3: 95,490,340	D541G	probably damaging	Het
AU040320	A	G	4: 126,757,071		probably null	Het
Cep290	A	T	10: 100,563,380	R2255*	probably null	Het
Creb3l4	T	A	3: 90,241,987	H138L	possibly damaging	Het
Crispld2	G	A	8: 120,010,648	R46H	probably damaging	Het
Crlf3	T	C	11: 80,047,675	T379A	probably benign	Het
Ctsb	T	A	14: 63,135,650	D85E	probably damaging	Het
Etv2	A	T	7: 30,633,667	D325E	probably benign	Het
Fggy	T	A	4: 95,837,628	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,833,726	G90S	probably damaging	Het
Gpatch8	C	A	11: 102,478,549	A1388S	probably damaging	Het
Grin2b	T	A	6: 135,733,570	S993C	probably damaging	Het
Gsg1	A	T	6: 135,244,092	M103K	possibly damaging	Het
Il12rb2	A	T	6: 67,360,567	V110D	probably damaging	Het
Kat8	A	G	7: 127,920,504	D174G	probably damaging	Het
Krt82	A	T	15: 101,543,378	I334N	probably damaging	Het
Lrrfip1	C	T	1: 91,115,418	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,214,239	L3F	probably benign	Het
Man1c1	T	A	4: 134,564,532	Q575L	probably damaging	Het
Panx1	A	G	9: 15,007,844	S240P	probably damaging	Het
Phldb2	G	A	16: 45,751,456	T1191I	probably damaging	Het
Plb1	G	A	5: 32,364,172	E1456K	unknown	Het
Prtn3	A	G	10: 79,881,052	T84A	probably benign	Het
R3hdm1	T	C	1: 128,235,632		probably benign	Het
Sirpa	G	A	2: 129,609,183	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,160,302	H475N	probably benign	Het
Smgc	A	T	15: 91,844,420	D121V	probably damaging	Het
Spata16	A	T	3: 26,924,262	E459V	probably damaging	Het
Sult2a4	T	A	7: 13,909,789	E284D	probably benign	Het
Tbc1d32	A	G	10: 56,089,846		probably benign	Het
Thsd7a	A	C	6: 12,554,934	V317G	probably damaging	Het
Trh	T	C	6: 92,242,789	E182G	probably benign	Het
Tsc1	A	G	2: 28,672,466	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,216,526	C205G	probably damaging	Het
Unc79	T	G	12: 103,141,890		probably benign	Het
Vps13d	A	T	4: 145,160,652	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,747,524		probably null	Het
Zfp507	G	T	7: 35,776,038	H917N	probably damaging	Het

Other mutations in Glra3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Glra3	APN	8	55940962	missense	probably benign	0.00
IGL01772:Glra3	APN	8	56089055	missense	probably benign	0.22
IGL02280:Glra3	APN	8	55940971	missense	possibly damaging	0.67
IGL02386:Glra3	APN	8	56089028	missense	probably benign	0.12
IGL02508:Glra3	APN	8	56085144	missense	probably benign	0.10
IGL03094:Glra3	APN	8	56125172	missense	probably benign
ANU18:Glra3	UTSW	8	55940962	missense	probably benign	0.00
R0532:Glra3	UTSW	8	56125076	missense	probably benign
R0708:Glra3	UTSW	8	56125364	utr 3 prime	probably benign
R0710:Glra3	UTSW	8	56125364	utr 3 prime	probably benign
R0927:Glra3	UTSW	8	56125204	missense	possibly damaging	0.65
R1125:Glra3	UTSW	8	56039754	missense	possibly damaging	0.69
R1138:Glra3	UTSW	8	56088976	splice site	probably null
R1717:Glra3	UTSW	8	55940907	missense	probably benign	0.07
R1718:Glra3	UTSW	8	55940907	missense	probably benign	0.07
R1848:Glra3	UTSW	8	55940907	missense	probably benign	0.07
R1933:Glra3	UTSW	8	55940907	missense	probably benign	0.07
R1934:Glra3	UTSW	8	55940907	missense	probably benign	0.07
R2042:Glra3	UTSW	8	56062459	missense	probably benign	0.36
R2571:Glra3	UTSW	8	56110481	missense	probably benign	0.41
R3123:Glra3	UTSW	8	56125209	missense	possibly damaging	0.94
R3124:Glra3	UTSW	8	56125209	missense	possibly damaging	0.94
R4585:Glra3	UTSW	8	56088993	missense	probably damaging	1.00
R4593:Glra3	UTSW	8	55940881	missense	probably damaging	1.00
R4981:Glra3	UTSW	8	55991235	missense	possibly damaging	0.69
R5277:Glra3	UTSW	8	55991207	missense	possibly damaging	0.79
R5356:Glra3	UTSW	8	55940901	missense	probably benign	0.00
R6214:Glra3	UTSW	8	55991256	splice site	probably null
R6941:Glra3	UTSW	8	55940926	missense	probably benign	0.00

Posted On

2012-12-06