Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Glra1'

480525

Institutional Source

Beutler Lab

Gene Symbol

Glra1

Ensembl Gene

ENSMUSG00000000263

Gene Name

glycine receptor, alpha 1 subunit

Synonyms

nmf11, B230397M16Rik, ot, oscillator

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

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

Stock #

R6033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55405065-55499024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55418245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 250 (Y250H)

Ref Sequence

ENSEMBL: ENSMUSP00000099777 (fasta)

Gene Model

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

AlphaFold

Q64018

Predicted Effect

probably damaging
Transcript: ENSMUST00000075603
AA Change: Y250H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: Y250H

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: Y250H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: Y250H

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: Y167H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: Y167H

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

0.5821

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.9%
20x: 89.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,645,551 (GRCm39)	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alas1	A	G	9: 106,118,403 (GRCm39)	S240P	probably damaging	Het
Alox12e	C	T	11: 70,206,839 (GRCm39)	G616D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,324,787 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,069,198 (GRCm39)	E72G	probably damaging	Het
Cmtm8	T	C	9: 114,625,141 (GRCm39)	T97A	probably damaging	Het
Cnmd	T	C	14: 79,898,945 (GRCm39)	S36G	probably benign	Het
Dnah3	A	C	7: 119,670,870 (GRCm39)	N609K	probably benign	Het
Dph1	C	T	11: 75,082,023 (GRCm39)		probably benign	Het
Drosha	G	A	15: 12,926,085 (GRCm39)	A1225T	probably benign	Het
Eid3	T	A	10: 82,703,487 (GRCm39)	I316K	probably damaging	Het
Erich6	A	G	3: 58,530,622 (GRCm39)	L449S	probably benign	Het
Fhod1	T	C	8: 106,063,066 (GRCm39)		probably benign	Het
Hivep1	A	G	13: 42,310,583 (GRCm39)	E941G	probably benign	Het
Homer2	A	C	7: 81,268,427 (GRCm39)	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799 (GRCm39)		probably null	Het
Ifna12	T	C	4: 88,521,154 (GRCm39)	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,635,207 (GRCm39)	Y79C	probably damaging	Het
Incenp	C	T	19: 9,850,061 (GRCm39)	V871I	probably damaging	Het
Jaml	G	A	9: 45,000,008 (GRCm39)	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,193 (GRCm39)	C110Y	probably damaging	Het
Manba	T	C	3: 135,255,022 (GRCm39)	V460A	probably benign	Het
Myrfl	A	T	10: 116,685,006 (GRCm39)	C125S	probably benign	Het
Ncan	T	C	8: 70,565,240 (GRCm39)	D229G	probably damaging	Het
Ncoa4-ps	A	G	12: 119,225,475 (GRCm39)		noncoding transcript	Het
Nlrp10	A	T	7: 108,523,784 (GRCm39)	D565E	probably benign	Het
Npas2	T	C	1: 39,377,261 (GRCm39)	V541A	probably damaging	Het
Nsg2	G	A	11: 32,005,058 (GRCm39)	V87M	possibly damaging	Het
Or5al6	A	T	2: 85,976,613 (GRCm39)	V155E	probably damaging	Het
Prkd2	C	T	7: 16,599,639 (GRCm39)	R701C	probably damaging	Het
Prr5	A	G	15: 84,626,126 (GRCm39)	E67G	probably damaging	Het
Prss36	T	C	7: 127,533,739 (GRCm39)	R22G	probably benign	Het
Psmd1	T	C	1: 86,064,817 (GRCm39)	Y950H	probably damaging	Het
Slc45a4	G	A	15: 73,453,825 (GRCm39)	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,356,833 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,609,099 (GRCm39)	I768T	probably benign	Het
Slco6c1	C	T	1: 97,009,041 (GRCm39)		probably null	Het
Taar2	A	T	10: 23,816,874 (GRCm39)	H138L	probably benign	Het
Taf2	A	C	15: 54,922,297 (GRCm39)	L330R	probably damaging	Het
Tgm5	T	C	2: 120,901,210 (GRCm39)		probably null	Het
Tmed4	A	T	11: 6,224,491 (GRCm39)	Y56*	probably null	Het
Tmem156	A	T	5: 65,232,964 (GRCm39)	F135L	probably benign	Het
Ttll6	T	C	11: 96,025,713 (GRCm39)	S65P	probably damaging	Het
Ttn	C	T	2: 76,557,171 (GRCm39)	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,447,159 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,512,419 (GRCm39)	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,137 (GRCm39)	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,318,599 (GRCm39)	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,340,397 (GRCm39)	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,236,419 (GRCm39)	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,554,464 (GRCm39)	S481P	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
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
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

Posted On

2017-06-26