Mutagenetix > Incidental Mutation

Incidental Mutation 'R2571:Glra3'

252541

Institutional Source

Beutler Lab

Gene Symbol

Glra3

Ensembl Gene

ENSMUSG00000038257

Gene Name

glycine receptor, alpha 3 subunit

Synonyms

MMRRC Submission

040429-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56393495-56583105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56563516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 337 (A337V)

Ref Sequence

ENSEMBL: ENSMUSP00000000275 (fasta)

Gene Model

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

AlphaFold

Q91XP5

Predicted Effect

probably benign
Transcript: ENSMUST00000000275
AA Change: A337V

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000275
Gene: ENSMUSG00000038257
AA Change: A337V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,289,044 (GRCm39)	N2438S	probably benign	Het
Ago3	G	A	4: 126,257,604 (GRCm39)	R476W	probably damaging	Het
Akap8	T	C	17: 32,534,429 (GRCm39)	E339G	probably damaging	Het
Apba2	T	C	7: 64,395,498 (GRCm39)	V658A	probably damaging	Het
Bcl3	T	C	7: 19,543,452 (GRCm39)	D338G	probably damaging	Het
Bpnt2	C	T	4: 4,778,192 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,349,044 (GRCm39)	Y197H	probably benign	Het
Ccdc162	T	A	10: 41,428,393 (GRCm39)	Q499L	probably damaging	Het
Ccser1	G	A	6: 61,399,944 (GRCm39)	C21Y	probably damaging	Het
Chil6	A	T	3: 106,297,709 (GRCm39)	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,112,092 (GRCm39)	R461C	probably damaging	Het
Col19a1	T	A	1: 24,413,712 (GRCm39)	R407S	unknown	Het
Crlf3	A	T	11: 79,938,339 (GRCm39)	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah10	A	T	5: 124,852,542 (GRCm39)	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,673,062 (GRCm39)	V911A	probably benign	Het
Dzip3	T	C	16: 48,792,581 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,128,795 (GRCm39)	Q10R	unknown	Het
H2-T5	C	T	17: 36,478,553 (GRCm39)	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,544,857 (GRCm39)	F163S	probably damaging	Het
Hells	T	C	19: 38,948,177 (GRCm39)	V701A	possibly damaging	Het
Helz	A	G	11: 107,504,778 (GRCm39)	T422A	probably benign	Het
Hhat	G	A	1: 192,235,330 (GRCm39)	T442I	probably damaging	Het
Hmces	A	T	6: 87,913,202 (GRCm39)	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,350,377 (GRCm39)	T97S	probably damaging	Het
Kcne2	C	T	16: 92,093,800 (GRCm39)	T109I	probably damaging	Het
Kcnq1	T	G	7: 142,661,433 (GRCm39)	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932 (GRCm39)	S1106P	probably benign	Het
Kel	C	A	6: 41,665,001 (GRCm39)	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,706,885 (GRCm39)	F1483I	probably benign	Het
Krt4	T	A	15: 101,829,692 (GRCm39)	N279Y	probably damaging	Het
Lama4	T	A	10: 38,918,671 (GRCm39)	M384K	possibly damaging	Het
Lepr	C	T	4: 101,625,369 (GRCm39)	T508I	possibly damaging	Het
Lypd10	A	G	7: 24,412,819 (GRCm39)	I76V	probably benign	Het
Map1lc3b	T	A	8: 122,320,213 (GRCm39)		probably null	Het
Me1	T	C	9: 86,536,751 (GRCm39)	H108R	probably damaging	Het
Mindy4	T	C	6: 55,261,770 (GRCm39)	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844 (GRCm39)	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,124,896 (GRCm39)	S826P	probably damaging	Het
Or13n4	T	A	7: 106,422,933 (GRCm39)	M267L	probably benign	Het
Osbpl7	T	C	11: 96,945,667 (GRCm39)	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,889,921 (GRCm39)	E310K	probably damaging	Het
Pcif1	A	G	2: 164,726,131 (GRCm39)	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,852,810 (GRCm39)	T63I	probably benign	Het
Prickle2	T	C	6: 92,682,381 (GRCm39)	Q25R	probably benign	Het
Ptk2	A	G	15: 73,103,768 (GRCm39)	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135 (GRCm38)	F333S	probably benign	Het
Rag2	T	A	2: 101,460,312 (GRCm39)	H207Q	probably damaging	Het
Rps6ka1	G	T	4: 133,587,923 (GRCm39)		probably null	Het
Rps6ka4	G	T	19: 6,815,471 (GRCm39)	H174Q	probably damaging	Het
Rreb1	C	A	13: 38,083,613 (GRCm39)	T92K	probably damaging	Het
Ryr1	A	T	7: 28,708,987 (GRCm39)	M4793K	unknown	Het
Ryr1	T	A	7: 28,735,551 (GRCm39)	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,329,343 (GRCm39)	S891A	probably benign	Het
Sgsh	A	G	11: 119,241,340 (GRCm39)	Y132H	probably damaging	Het
Sos2	T	A	12: 69,682,492 (GRCm39)	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,184,198 (GRCm39)	R580L	probably damaging	Het
Spata9	C	A	13: 76,115,880 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,875,194 (GRCm39)	V202E	probably damaging	Het
Thada	T	C	17: 84,762,068 (GRCm39)	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Tra2a	G	T	6: 49,229,421 (GRCm39)		probably benign	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Ttc13	A	C	8: 125,410,538 (GRCm39)	Y372D	probably damaging	Het
Vit	T	C	17: 78,894,174 (GRCm39)	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,064,764 (GRCm39)	T41A	probably benign	Het
Vps13d	C	A	4: 144,875,706 (GRCm39)	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,335,127 (GRCm39)	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,540,614 (GRCm39)	L376P	probably damaging	Het
Zfp619	T	C	7: 39,186,595 (GRCm39)	L875P	probably damaging	Het
Zic5	T	A	14: 122,696,890 (GRCm39)	Q575L	unknown	Het

Other mutations in Glra3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Glra3	APN	8	56,394,012 (GRCm39)	splice site	probably benign
IGL01301:Glra3	APN	8	56,393,997 (GRCm39)	missense	probably benign	0.00
IGL01772:Glra3	APN	8	56,542,090 (GRCm39)	missense	probably benign	0.22
IGL02280:Glra3	APN	8	56,394,006 (GRCm39)	missense	possibly damaging	0.67
IGL02386:Glra3	APN	8	56,542,063 (GRCm39)	missense	probably benign	0.12
IGL02508:Glra3	APN	8	56,538,179 (GRCm39)	missense	probably benign	0.10
IGL03094:Glra3	APN	8	56,578,207 (GRCm39)	missense	probably benign
ANU18:Glra3	UTSW	8	56,393,997 (GRCm39)	missense	probably benign	0.00
R0532:Glra3	UTSW	8	56,578,111 (GRCm39)	missense	probably benign
R0708:Glra3	UTSW	8	56,578,399 (GRCm39)	utr 3 prime	probably benign
R0710:Glra3	UTSW	8	56,578,399 (GRCm39)	utr 3 prime	probably benign
R0927:Glra3	UTSW	8	56,578,239 (GRCm39)	missense	possibly damaging	0.65
R1125:Glra3	UTSW	8	56,492,789 (GRCm39)	missense	possibly damaging	0.69
R1138:Glra3	UTSW	8	56,542,011 (GRCm39)	splice site	probably null
R1717:Glra3	UTSW	8	56,393,942 (GRCm39)	missense	probably benign	0.07
R1718:Glra3	UTSW	8	56,393,942 (GRCm39)	missense	probably benign	0.07
R1848:Glra3	UTSW	8	56,393,942 (GRCm39)	missense	probably benign	0.07
R1933:Glra3	UTSW	8	56,393,942 (GRCm39)	missense	probably benign	0.07
R1934:Glra3	UTSW	8	56,393,942 (GRCm39)	missense	probably benign	0.07
R2042:Glra3	UTSW	8	56,515,494 (GRCm39)	missense	probably benign	0.36
R3123:Glra3	UTSW	8	56,578,244 (GRCm39)	missense	possibly damaging	0.94
R3124:Glra3	UTSW	8	56,578,244 (GRCm39)	missense	possibly damaging	0.94
R4585:Glra3	UTSW	8	56,542,028 (GRCm39)	missense	probably damaging	1.00
R4593:Glra3	UTSW	8	56,393,916 (GRCm39)	missense	probably damaging	1.00
R4981:Glra3	UTSW	8	56,444,270 (GRCm39)	missense	possibly damaging	0.69
R5277:Glra3	UTSW	8	56,444,242 (GRCm39)	missense	possibly damaging	0.79
R5356:Glra3	UTSW	8	56,393,936 (GRCm39)	missense	probably benign	0.00
R6214:Glra3	UTSW	8	56,444,291 (GRCm39)	splice site	probably null
R6941:Glra3	UTSW	8	56,393,961 (GRCm39)	missense	probably benign	0.00
R7976:Glra3	UTSW	8	56,565,911 (GRCm39)	critical splice donor site	probably null
R8354:Glra3	UTSW	8	56,578,345 (GRCm39)	nonsense	probably null
R8401:Glra3	UTSW	8	56,542,124 (GRCm39)	missense	probably damaging	1.00
R8909:Glra3	UTSW	8	56,444,159 (GRCm39)	critical splice acceptor site	probably null
R9399:Glra3	UTSW	8	56,542,079 (GRCm39)	missense	probably damaging	0.99
R9515:Glra3	UTSW	8	56,578,299 (GRCm39)	missense	probably damaging	1.00
R9598:Glra3	UTSW	8	56,393,718 (GRCm39)	start gained	probably benign
R9731:Glra3	UTSW	8	56,542,058 (GRCm39)	missense	probably damaging	1.00
R9801:Glra3	UTSW	8	56,563,563 (GRCm39)	missense	probably damaging	1.00
Z1176:Glra3	UTSW	8	56,515,535 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AACGACCCCTTTGTTATTTGTG -3'
(R):5'- TGAAGCATAAACAGTGTTGTTCGTG -3'

Sequencing Primer
(F):5'- TTGTGTCCCCTTAATAAAGTTTCAG -3'
(R):5'- ACAGTGTTGTTCGTGGAAATAC -3'

Posted On

2014-12-04