Mutagenetix > Incidental Mutation

Incidental Mutation 'R5496:Glra1'

432361

Institutional Source

Beutler Lab

Gene Symbol

Glra1

Ensembl Gene

ENSMUSG00000000263

Gene Name

glycine receptor, alpha 1 subunit

Synonyms

nmf11, B230397M16Rik, ot, oscillator

MMRRC Submission

043057-MU

Accession Numbers

Essential gene?

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

Stock #

R5496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55405065-55499024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55418241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 168 (Y168C)

Ref Sequence

ENSEMBL: ENSMUSP00000104481 (fasta)

Gene Model

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

AlphaFold

Q64018

Predicted Effect

probably damaging
Transcript: ENSMUST00000075603
AA Change: Y251C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: Y251C

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 damaging
Transcript: ENSMUST00000102716
AA Change: Y251C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: Y251C

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 damaging
Transcript: ENSMUST00000108853
AA Change: Y168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: Y168C

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

Validation Efficiency

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
Abcb1a	G	A	5: 8,724,818 (GRCm39)	V84I	probably benign	Het
Adam10	T	G	9: 70,630,021 (GRCm39)	F151C	probably damaging	Het
Akap6	A	G	12: 53,187,436 (GRCm39)	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,683,911 (GRCm39)	T524A	probably benign	Het
Bicra	C	T	7: 15,721,766 (GRCm39)	V584I	probably benign	Het
Carmil1	G	A	13: 24,339,433 (GRCm39)	R54C	probably damaging	Het
Cbln1	A	G	8: 88,198,324 (GRCm39)	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,592,217 (GRCm39)	V40A	probably benign	Het
Cdh20	T	A	1: 109,976,647 (GRCm39)	I104N	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Cfap91	A	G	16: 38,141,855 (GRCm39)	I359T	probably damaging	Het
Col12a1	A	G	9: 79,509,467 (GRCm39)		probably benign	Het
Csf2rb	A	G	15: 78,224,761 (GRCm39)	E173G	probably damaging	Het
Cyb561	A	G	11: 105,828,545 (GRCm39)	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,404,341 (GRCm39)	K34M	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah7a	T	G	1: 53,496,927 (GRCm39)	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,695,956 (GRCm39)	E434G	probably damaging	Het
Ebag9	T	G	15: 44,503,816 (GRCm39)	*214E	probably null	Het
Egln3	A	T	12: 54,250,110 (GRCm39)	W80R	probably damaging	Het
Eps15l1	A	G	8: 73,136,619 (GRCm39)	Y336H	probably benign	Het
Gak	A	G	5: 108,724,483 (GRCm39)	S1076P	probably benign	Het
Glrx2	T	A	1: 143,620,945 (GRCm39)	M108K	probably damaging	Het
Gm3604	A	T	13: 62,519,393 (GRCm39)	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,438,614 (GRCm39)		probably benign	Het
Gmcl1	G	T	6: 86,674,507 (GRCm39)	A457D	probably damaging	Het
H2-M11	T	C	17: 36,858,871 (GRCm39)	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,172,140 (GRCm39)	W3S	probably damaging	Het
Il22	T	G	10: 118,041,002 (GRCm39)	V36G	possibly damaging	Het
Ints1	G	A	5: 139,740,953 (GRCm39)	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,766,561 (GRCm39)	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,516,797 (GRCm39)	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,804,568 (GRCm39)	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,620,202 (GRCm39)	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,922,245 (GRCm39)	D948G	probably benign	Het
Krba1	A	G	6: 48,383,290 (GRCm39)	T229A	possibly damaging	Het
Leprot	T	A	4: 101,515,093 (GRCm39)	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,817,985 (GRCm39)	D2415G	probably benign	Het
Mnd1	T	A	3: 83,995,481 (GRCm39)	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,825,553 (GRCm39)	Y339*	probably null	Het
Nfatc2	G	A	2: 168,378,198 (GRCm39)	T268M	probably damaging	Het
Or14j10	T	C	17: 37,935,469 (GRCm39)	D19G	probably benign	Het
Or52d3	G	C	7: 104,229,701 (GRCm39)	A283P	probably damaging	Het
Or8h7	G	T	2: 86,720,658 (GRCm39)	P287Q	probably damaging	Het
Or8h7	G	C	2: 86,720,659 (GRCm39)	P287A	probably damaging	Het
Pan3	G	A	5: 147,463,938 (GRCm39)		probably null	Het
Pde6a	A	T	18: 61,386,736 (GRCm39)		probably null	Het
Prss39	T	C	1: 34,539,342 (GRCm39)	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,709,507 (GRCm39)	S507G	probably benign	Het
Rif1	T	C	2: 51,988,928 (GRCm39)	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smurf1	C	A	5: 144,819,403 (GRCm39)	E601*	probably null	Het
Stau2	T	C	1: 16,460,245 (GRCm39)	S231G	probably damaging	Het
Timp2	T	G	11: 118,194,707 (GRCm39)	M161L	probably benign	Het
Tlr5	T	C	1: 182,801,197 (GRCm39)	L167P	probably damaging	Het
Trhr	G	A	15: 44,060,932 (GRCm39)	A151T	probably benign	Het
Unc13d	A	G	11: 115,957,534 (GRCm39)	V807A	probably damaging	Het
Usp2	T	C	9: 43,996,505 (GRCm39)	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,146,589 (GRCm39)	T447A	probably damaging	Het
Zan	A	G	5: 137,434,607 (GRCm39)	I2232T	unknown	Het
Zfp12	C	A	5: 143,230,550 (GRCm39)	C292*	probably null	Het
Zfp850	A	C	7: 27,706,771 (GRCm39)	M43R	probably damaging	Het
Zic5	G	A	14: 122,696,755 (GRCm39)	T620M	unknown	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
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'- ATACAGTATTCCCCAGTGGTGC -3'
(R):5'- TTCGCCCTAAAGGAAGAAACTG -3'

Sequencing Primer
(F):5'- TGCCACTCACCTTGGGTAG -3'
(R):5'- AGAACAATTCGGTCGCTTGC -3'

Posted On

2016-10-05