Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Glra3'

191206

Institutional Source

Beutler Lab

Gene Symbol

Glra3

Ensembl Gene

ENSMUSG00000038257

Gene Name

glycine receptor, alpha 3 subunit

Synonyms

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55940460-56130070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55940907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 18 (A18S)

Ref Sequence

ENSEMBL: ENSMUSP00000000275 (fasta)

Gene Model

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

AlphaFold

Q91XP5

Predicted Effect

probably benign
Transcript: ENSMUST00000000275
AA Change: A18S

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000000275
Gene: ENSMUSG00000038257
AA Change: A18S

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

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,245,370		probably benign	Het
Acot3	T	G	12: 84,053,943		probably null	Het
Acox1	A	T	11: 116,174,682	C523*	probably null	Het
Adamts19	G	A	18: 58,972,825	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Apob	A	G	12: 8,016,087	K4319R	probably benign	Het
AU016765	A	C	17: 64,555,438		noncoding transcript	Het
Bpifb1	T	A	2: 154,213,983		probably null	Het
Btn2a2	A	G	13: 23,481,936	V242A	probably benign	Het
Camta1	A	G	4: 151,084,024	S1281P	probably benign	Het
Ccdc116	T	C	16: 17,141,908	K306E	probably benign	Het
Cemip	A	G	7: 83,935,658	V1350A	probably benign	Het
Clip2	A	T	5: 134,502,929	L674*	probably null	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Cyp4x1	A	G	4: 115,111,670	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,168,079	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,990,983	Y318C	probably damaging	Het
Fras1	A	T	5: 96,554,889		probably null	Het
Gm28042	T	A	2: 120,036,391	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,928,003		probably benign	Het
Gm8909	A	G	17: 36,161,784		probably benign	Het
Gpr61	C	T	3: 108,150,380	V322M	possibly damaging	Het
Hapln3	A	G	7: 79,123,450	V15A	unknown	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klk1b4	A	G	7: 44,209,672	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,115,555	K561E	probably damaging	Het
Map3k1	A	G	13: 111,755,419	C1101R	probably benign	Het
Mcoln2	A	G	3: 146,190,474		probably benign	Het
Mfsd2b	G	A	12: 4,869,037	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,975,203	V19I	probably benign	Het
Mgme1	T	A	2: 144,272,318	D113E	probably benign	Het
Mki67	A	G	7: 135,695,494	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,831,644	I125V	probably benign	Het
Mrps9	G	A	1: 42,903,399	R339H	probably damaging	Het
Ndst1	T	C	18: 60,707,803	D269G	probably damaging	Het
Nedd9	T	C	13: 41,338,926	N30S	probably damaging	Het
Notch4	G	A	17: 34,576,763		probably benign	Het
Olfr1095	A	T	2: 86,851,187	N170K	probably benign	Het
Olfr250	A	G	9: 38,367,594	D6G	probably benign	Het
Olfr877	G	A	9: 37,855,453	V212I	probably benign	Het
Olfr995	T	C	2: 85,438,805	M118V	probably benign	Het
Papss1	C	A	3: 131,619,185	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,871,523		probably benign	Het
Rab11fip2	A	G	19: 59,935,649	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,443,280	Y554*	probably null	Het
Rem2	T	C	14: 54,479,150	V240A	probably damaging	Het
Retsat	T	C	6: 72,602,671	V143A	probably benign	Het
Rnf141	G	T	7: 110,821,273	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,942,017	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,204,339	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,468,998		probably benign	Het
Smchd1	A	T	17: 71,448,833	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Speg	A	G	1: 75,421,744	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 124,898,357	V67A	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 85,071,738	E997D	probably benign	Het
Tti1	A	T	2: 158,008,224	V365E	probably benign	Het
Tulp4	A	G	17: 6,222,440	I590V	probably benign	Het
Vmn2r61	A	G	7: 42,300,697	D847G	probably benign	Het
Zfp184	A	G	13: 21,959,272	T383A	possibly damaging	Het
Zik1	T	A	7: 10,492,341	E33V	probably damaging	Het
Zik1	C	A	7: 10,492,342	E33*	probably null	Het

Other mutations in Glra3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Glra3	APN	8	55940977	splice site	probably benign
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
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
R7976:Glra3	UTSW	8	56112876	critical splice donor site	probably null
R8354:Glra3	UTSW	8	56125310	nonsense	probably null
R8401:Glra3	UTSW	8	56089089	missense	probably damaging	1.00
R8909:Glra3	UTSW	8	55991124	critical splice acceptor site	probably null
R9399:Glra3	UTSW	8	56089044	missense	probably damaging	0.99
R9515:Glra3	UTSW	8	56125264	missense	probably damaging	1.00
R9598:Glra3	UTSW	8	55940683	start gained	probably benign
R9731:Glra3	UTSW	8	56089023	missense	probably damaging	1.00
R9801:Glra3	UTSW	8	56110528	missense	probably damaging	1.00
Z1176:Glra3	UTSW	8	56062500	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AACTGTTGCTCAGGACCTCTGCAC -3'
(R):5'- GTGGGAAGAGCCCAACTACTCAAAC -3'

Sequencing Primer
(F):5'- GTAGCTTCACTGTGAAATCACTCG -3'
(R):5'- GTTTCAGTAAGTCAGAACACAGTCC -3'

Posted On

2014-05-14