Mutagenetix > Incidental Mutation

Incidental Mutation 'R5837:Glra1'

449660

Institutional Source

Beutler Lab

Gene Symbol

Glra1

Ensembl Gene

ENSMUSG00000000263

Gene Name

glycine receptor, alpha 1 subunit

Synonyms

nmf11, B230397M16Rik, ot, oscillator

MMRRC Submission

044057-MU

Accession Numbers

Essential gene?

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

Stock #

R5837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55405065-55499024 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 55427333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104481 (fasta)

Gene Model

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

AlphaFold

Q64018

Predicted Effect

probably null
Transcript: ENSMUST00000075603

SMART Domains

Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263

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 null
Transcript: ENSMUST00000102716

SMART Domains

Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263

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 null
Transcript: ENSMUST00000108853

SMART Domains

Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Ank1	A	G	8: 23,594,806 (GRCm39)	N605D	probably damaging	Het
Apob	A	G	12: 8,053,277 (GRCm39)	M1240V	probably benign	Het
Atf1	T	A	15: 100,152,265 (GRCm39)	I86N	probably damaging	Het
Best1	T	A	19: 9,966,483 (GRCm39)		probably null	Het
Bet1l	C	A	7: 140,434,694 (GRCm39)	R51L	probably benign	Het
Bpifa5	A	G	2: 154,005,598 (GRCm39)	Y60C	probably damaging	Het
Ccdc141	G	T	2: 76,938,781 (GRCm39)	Q275K	possibly damaging	Het
Cep295	T	A	9: 15,258,280 (GRCm39)	H241L	probably damaging	Het
Commd7	A	G	2: 153,471,144 (GRCm39)	V36A	possibly damaging	Het
Cyld	G	A	8: 89,468,032 (GRCm39)	S555N	probably damaging	Het
Cyp2j13	A	T	4: 95,959,919 (GRCm39)	I79N	probably damaging	Het
Dact2	A	G	17: 14,416,515 (GRCm39)	S562P	probably damaging	Het
Dnajc13	T	A	9: 104,053,865 (GRCm39)	I1664F	possibly damaging	Het
Ehmt1	A	G	2: 24,753,926 (GRCm39)	V277A	probably damaging	Het
Fbn1	A	T	2: 125,221,054 (GRCm39)		probably null	Het
Galnt6	G	A	15: 100,592,527 (GRCm39)	T560M	possibly damaging	Het
Gm10762	C	T	2: 128,809,077 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,586 (GRCm39)	R1459H	probably damaging	Het
Ift140	A	G	17: 25,308,514 (GRCm39)	K1048E	probably damaging	Het
Ilk	T	C	7: 105,390,378 (GRCm39)		probably null	Het
Lgi4	C	T	7: 30,770,208 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,374,105 (GRCm39)	T59A	possibly damaging	Het
Lzic	G	T	4: 149,570,457 (GRCm39)		probably null	Het
Mef2d	A	G	3: 88,069,088 (GRCm39)	T286A	probably benign	Het
Mycbp2	C	A	14: 103,361,839 (GRCm39)	C4447F	probably damaging	Het
Ncoa2	A	G	1: 13,294,930 (GRCm39)		probably benign	Het
Nolc1	T	C	19: 46,071,622 (GRCm39)		probably benign	Het
Npl	T	C	1: 153,379,271 (GRCm39)	T271A	probably benign	Het
Nudt1	A	G	5: 140,320,295 (GRCm39)	R25G	probably damaging	Het
Nudt19	T	C	7: 35,251,061 (GRCm39)	E226G	possibly damaging	Het
Oc90	T	C	15: 65,748,295 (GRCm39)	D405G	probably benign	Het
Or10q1b	T	A	19: 13,682,324 (GRCm39)	C44*	probably null	Het
Or1e1c	A	G	11: 73,266,474 (GRCm39)	M300V	probably benign	Het
Or5as1	A	T	2: 86,980,699 (GRCm39)	F102Y	probably benign	Het
Or9k2b	A	T	10: 130,016,266 (GRCm39)	L161H	probably damaging	Het
Pcdhb1	T	C	18: 37,398,880 (GRCm39)	I277T	possibly damaging	Het
Pcdhb9	C	A	18: 37,535,851 (GRCm39)	A615E	probably damaging	Het
Phrf1	C	G	7: 140,839,974 (GRCm39)	D1056E	probably benign	Het
Phyhip	C	A	14: 70,704,450 (GRCm39)	A223E	probably damaging	Het
Polr2h	T	A	16: 20,536,682 (GRCm39)	I4N	probably damaging	Het
Ppp1r12c	C	A	7: 4,500,403 (GRCm39)		probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Psg17	T	A	7: 18,554,140 (GRCm39)	T37S	possibly damaging	Het
Ptprz1	T	C	6: 23,001,417 (GRCm39)	V1169A	probably benign	Het
Rabgap1l	T	C	1: 160,134,792 (GRCm39)		probably benign	Het
Rapgef3	C	T	15: 97,655,223 (GRCm39)		probably benign	Het
Rbp3	C	A	14: 33,676,230 (GRCm39)	H59Q	probably benign	Het
Robo3	T	A	9: 37,341,112 (GRCm39)		probably null	Het
Slco4c1	C	T	1: 96,746,707 (GRCm39)	E712K	probably benign	Het
Ssh3	T	C	19: 4,316,428 (GRCm39)	T168A	probably benign	Het
Stoml2	G	T	4: 43,028,989 (GRCm39)	N248K	probably damaging	Het
Tmigd1	A	G	11: 76,806,911 (GRCm39)		probably benign	Het
Tnc	T	A	4: 63,931,451 (GRCm39)	D753V	probably damaging	Het
Tnik	A	T	3: 28,722,202 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,180 (GRCm39)	S22G	possibly damaging	Het
Trmt2a	C	T	16: 18,067,326 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,547,718 (GRCm39)	T32151A	probably damaging	Het
Utp25	A	T	1: 192,800,701 (GRCm39)	F373Y	probably damaging	Het
Vmn1r67	T	C	7: 10,180,949 (GRCm39)	I10T	probably benign	Het
Vmn2r116	T	C	17: 23,606,054 (GRCm39)	F322S	probably damaging	Het
Wdr19	A	G	5: 65,360,300 (GRCm39)	D35G	probably benign	Het
Zfp365	A	T	10: 67,724,870 (GRCm39)	H339Q	probably damaging	Het
Zfp677	A	T	17: 21,617,648 (GRCm39)	H235L	probably damaging	Het
Zpbp2	G	A	11: 98,442,097 (GRCm39)		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
R1331:Glra1	UTSW	11	55,405,896 (GRCm39)	missense	probably benign
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
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'- TGATGCTGTAGAGGACATTGC -3'
(R):5'- TTGCATATACTTAGCTGAGGATGG -3'

Sequencing Primer
(F):5'- TAGAGGACATTGCCATTCCG -3'
(R):5'- CATATACTTAGCTGAGGATGGGGAGG -3'

Posted On

2016-12-20