Mutagenetix > Incidental Mutation

Incidental Mutation 'R1331:Glra1'

156203

Institutional Source

Beutler Lab

Gene Symbol

Glra1

Ensembl Gene

ENSMUSG00000000263

Gene Name

glycine receptor, alpha 1 subunit

Synonyms

nmf11, B230397M16Rik, ot, oscillator

MMRRC Submission

039396-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R1331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55405065-55499024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55405896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 282 (S282A)

Ref Sequence

ENSEMBL: ENSMUSP00000104481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075603] [ENSMUST00000102716] [ENSMUST00000108853]

AlphaFold

Q64018

Predicted Effect

probably benign
Transcript: ENSMUST00000075603
AA Change: S373A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: S373A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Neur_chan_LBD	38	248	1.2e-55	PFAM
Pfam:Neur_chan_memb	255	400	2.8e-35	PFAM
PDB:2M6I\|E	416	453	5e-17	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000102716
AA Change: S365A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: S365A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Neur_chan_LBD	39	248	7e-58	PFAM
Pfam:Neur_chan_memb	255	355	3.7e-38	PFAM
Pfam:Neur_chan_memb	344	435	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108853
AA Change: S282A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: S282A

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	165	1.6e-46	PFAM
Pfam:Neur_chan_memb	172	270	3.9e-38	PFAM
Pfam:Neur_chan_memb	254	352	7.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152968

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 93.0%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mutations in this gene result in neurological defects for all alleles reported. Specific alleles also show affects on viability, reproductive performance, and/or eye and respiratory physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,773,202 (GRCm39)		probably null	Het
Acat1	T	C	9: 53,496,183 (GRCm39)	D318G	probably benign	Het
Ahdc1	T	C	4: 132,791,002 (GRCm39)	F748L	probably benign	Het
Alkbh8	T	A	9: 3,347,916 (GRCm39)		probably null	Het
Arhgef26	A	G	3: 62,247,449 (GRCm39)	T178A	probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Ccdc180	T	C	4: 45,909,359 (GRCm39)	V509A	possibly damaging	Het
Ccdc39	T	C	3: 33,869,634 (GRCm39)	E731G	probably benign	Het
Cenpf	A	G	1: 189,374,998 (GRCm39)	V2931A	probably damaging	Het
Cobl	A	T	11: 12,325,853 (GRCm39)	N207K	probably damaging	Het
Col14a1	T	A	15: 55,273,584 (GRCm39)	W718R	unknown	Het
Dnah7a	A	G	1: 53,507,828 (GRCm39)	I3081T	probably damaging	Het
Dync1h1	T	C	12: 110,615,698 (GRCm39)	V2977A	probably damaging	Het
Ephb4	A	G	5: 137,364,796 (GRCm39)		probably benign	Het
Eri3	T	C	4: 117,422,104 (GRCm39)		probably benign	Het
Fbxo24	A	G	5: 137,617,891 (GRCm39)	V291A	probably damaging	Het
Gm7589	C	A	9: 59,053,325 (GRCm39)		noncoding transcript	Het
H6pd	T	C	4: 150,066,872 (GRCm39)	N505D	probably benign	Het
Hdlbp	T	A	1: 93,348,853 (GRCm39)	N566Y	probably damaging	Het
Hsp90aa1	C	A	12: 110,659,254 (GRCm39)	K514N	probably damaging	Het
Impdh1	A	T	6: 29,206,477 (GRCm39)	V120D	probably damaging	Het
Katnip	A	G	7: 125,465,627 (GRCm39)	T1360A	probably benign	Het
Loxhd1	C	T	18: 77,490,632 (GRCm39)	P1411S	possibly damaging	Het
Lpl	A	G	8: 69,349,281 (GRCm39)	E269G	probably damaging	Het
Map1a	G	T	2: 121,136,701 (GRCm39)	E2268*	probably null	Het
Mark1	T	C	1: 184,660,245 (GRCm39)	E137G	probably damaging	Het
Mki67	A	T	7: 135,300,005 (GRCm39)	S1676R	possibly damaging	Het
Mogat2	T	C	7: 98,872,722 (GRCm39)	Y154C	possibly damaging	Het
Myo18a	C	G	11: 77,732,405 (GRCm39)	I859M	probably benign	Het
Myo7a	A	G	7: 97,756,215 (GRCm39)	V39A	probably benign	Het
Nedd4	T	A	9: 72,584,668 (GRCm39)	I123N	probably damaging	Het
Obscn	A	G	11: 58,977,754 (GRCm39)	V1966A	probably benign	Het
Or7g33	T	C	9: 19,448,842 (GRCm39)	N128S	probably benign	Het
Orc3	T	G	4: 34,599,748 (GRCm39)	N77T	probably benign	Het
Penk	A	G	4: 4,134,287 (GRCm39)	M120T	probably benign	Het
Phf7	G	A	14: 30,962,362 (GRCm39)	Q148*	probably null	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pkhd1l1	C	T	15: 44,452,993 (GRCm39)	R3973C	probably damaging	Het
Polq	C	T	16: 36,862,109 (GRCm39)	T264M	probably damaging	Het
Ptprb	A	T	10: 116,203,437 (GRCm39)	T2070S	probably damaging	Het
Ralgapb	T	C	2: 158,272,453 (GRCm39)	F169S	probably damaging	Het
Rapgef5	G	T	12: 117,685,084 (GRCm39)	A278S	probably benign	Het
Ripor2	G	T	13: 24,861,824 (GRCm39)	E203*	probably null	Het
Setx	T	C	2: 29,069,698 (GRCm39)	L2501P	probably benign	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Slc35b1	T	A	11: 95,276,689 (GRCm39)	V56D	probably damaging	Het
Slc45a4	C	T	15: 73,458,596 (GRCm39)	D326N	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stat4	T	A	1: 52,053,086 (GRCm39)	V89D	probably benign	Het
Tek	T	A	4: 94,627,943 (GRCm39)		probably benign	Het
Tert	T	A	13: 73,796,473 (GRCm39)	F1068Y	probably damaging	Het
Trim33	T	A	3: 103,217,670 (GRCm39)	I205K	probably damaging	Het
Vmn1r212	A	T	13: 23,067,562 (GRCm39)	I257K	probably benign	Het

Other mutations in Glra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Glra1	APN	11	55,405,715 (GRCm39)	missense	possibly damaging	0.89
IGL02792:Glra1	APN	11	55,427,226 (GRCm39)	missense	probably damaging	0.99
IGL03151:Glra1	APN	11	55,418,206 (GRCm39)	missense	probably damaging	1.00
Adagio	UTSW	11	55,418,245 (GRCm39)	missense	probably damaging	1.00
R1666:Glra1	UTSW	11	55,465,225 (GRCm39)	missense	probably damaging	0.98
R4734:Glra1	UTSW	11	55,427,210 (GRCm39)	missense	probably damaging	1.00
R4749:Glra1	UTSW	11	55,427,210 (GRCm39)	missense	probably damaging	1.00
R4957:Glra1	UTSW	11	55,418,224 (GRCm39)	missense	probably damaging	1.00
R5025:Glra1	UTSW	11	55,427,331 (GRCm39)	critical splice acceptor site	probably null
R5496:Glra1	UTSW	11	55,418,241 (GRCm39)	missense	probably damaging	1.00
R5533:Glra1	UTSW	11	55,423,208 (GRCm39)	missense	possibly damaging	0.91
R5837:Glra1	UTSW	11	55,427,333 (GRCm39)	splice site	probably null
R6023:Glra1	UTSW	11	55,424,679 (GRCm39)	missense	probably damaging	1.00
R6033:Glra1	UTSW	11	55,418,245 (GRCm39)	missense	probably damaging	1.00
R6033:Glra1	UTSW	11	55,418,245 (GRCm39)	missense	probably damaging	1.00
R6575:Glra1	UTSW	11	55,411,822 (GRCm39)	missense	probably damaging	0.99
R6971:Glra1	UTSW	11	55,427,325 (GRCm39)	nonsense	probably null
R7166:Glra1	UTSW	11	55,405,904 (GRCm39)	missense	probably benign	0.16
R7912:Glra1	UTSW	11	55,411,821 (GRCm39)	missense	probably damaging	1.00
R7953:Glra1	UTSW	11	55,424,688 (GRCm39)	missense	probably damaging	1.00
R8043:Glra1	UTSW	11	55,424,688 (GRCm39)	missense	probably damaging	1.00
R8046:Glra1	UTSW	11	55,427,225 (GRCm39)	missense	probably damaging	0.99
R8758:Glra1	UTSW	11	55,418,191 (GRCm39)	missense	possibly damaging	0.80
R9520:Glra1	UTSW	11	55,405,897 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGCAATACCCTGGAAGTATCCACCC -3'
(R):5'- GCTCATGCCTCAGACTCTGTAACC -3'

Sequencing Primer
(F):5'- CCGGACGATCTTATAGATGATCCAG -3'
(R):5'- TCTATAAGGCCGACTCCCCAG -3'

Posted On

2014-02-11