Mutagenetix > Incidental Mutation

Incidental Mutation 'R4749:Glra1'

357412

Institutional Source

Beutler Lab

Gene Symbol

Glra1

Ensembl Gene

ENSMUSG00000000263

Gene Name

glycine receptor, alpha 1 subunit

Synonyms

nmf11, B230397M16Rik, ot, oscillator

MMRRC Submission

041969-MU

Accession Numbers

Essential gene?

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

Stock #

R4749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55405065-55499024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55427210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 42 (D42Y)

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: D125Y

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

SMART Domains

Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: D125Y

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: D125Y

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

SMART Domains

Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: D125Y

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: D42Y

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

SMART Domains

Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: D42Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Adgra2	A	G	8: 27,604,225 (GRCm39)	K472E	probably damaging	Het
Akap9	A	G	5: 4,018,737 (GRCm39)	D1106G	probably benign	Het
Arhgap35	T	C	7: 16,232,551 (GRCm39)	E1367G	possibly damaging	Het
Arsi	A	T	18: 61,050,533 (GRCm39)	Y472F	probably benign	Het
Asxl3	A	G	18: 22,649,826 (GRCm39)	D605G	probably damaging	Het
Atp6v1e2	C	T	17: 87,252,135 (GRCm39)	D88N	probably benign	Het
BC061237	T	A	14: 44,743,469 (GRCm39)	V169E	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
C9	G	A	15: 6,519,311 (GRCm39)	V383I	probably benign	Het
Ccdc88a	A	G	11: 29,432,720 (GRCm39)	K222R	probably benign	Het
Ccna2	T	C	3: 36,620,391 (GRCm39)	S421G	probably benign	Het
Cflar	T	G	1: 58,779,431 (GRCm39)	V229G	possibly damaging	Het
Clcn1	A	G	6: 42,267,131 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,315,732 (GRCm39)	F1342L	unknown	Het
Colq	C	T	14: 31,251,472 (GRCm39)	R313H	possibly damaging	Het
Coro6	A	G	11: 77,359,974 (GRCm39)	E345G	probably damaging	Het
Cracd	T	C	5: 77,006,681 (GRCm39)	V1014A	unknown	Het
Cyb561	A	G	11: 105,826,708 (GRCm39)	F182L	probably benign	Het
Dap3	A	G	3: 88,833,617 (GRCm39)	S317P	probably benign	Het
Dnah9	G	A	11: 65,724,941 (GRCm39)	A4404V	probably damaging	Het
Dsg4	A	G	18: 20,579,888 (GRCm39)	E31G	possibly damaging	Het
Dsn1	G	A	2: 156,843,660 (GRCm39)	L147F	probably damaging	Het
Dysf	T	C	6: 84,043,990 (GRCm39)	V277A	probably damaging	Het
Eprs1	T	A	1: 185,128,327 (GRCm39)	I569K	probably damaging	Het
Erg	T	C	16: 95,162,029 (GRCm39)	N342S	probably damaging	Het
Fam114a1	G	A	5: 65,166,409 (GRCm39)	D247N	probably damaging	Het
Fat2	A	G	11: 55,202,294 (GRCm39)	V260A	probably benign	Het
Foxn4	T	C	5: 114,393,628 (GRCm39)	D497G	probably damaging	Het
Fsip2	A	G	2: 82,819,629 (GRCm39)	I5121V	probably benign	Het
Gcn1	T	A	5: 115,752,461 (GRCm39)	D2155E	probably benign	Het
Gpr171	A	G	3: 59,004,887 (GRCm39)	V296A	probably benign	Het
Grid1	T	A	14: 35,302,644 (GRCm39)	S970T	possibly damaging	Het
Hcn3	A	T	3: 89,057,370 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Hsd3b3	G	A	3: 98,649,931 (GRCm39)	P131S	probably damaging	Het
Hsp90b1	A	G	10: 86,537,672 (GRCm39)	V211A	probably damaging	Het
Htr2c	A	G	X: 145,976,793 (GRCm39)	T163A	probably benign	Het
Ifi208	T	A	1: 173,523,180 (GRCm39)	D483E	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,727 (GRCm39)	V474E	possibly damaging	Het
Kif21b	T	A	1: 136,072,487 (GRCm39)	Y64*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Map3k10	T	C	7: 27,357,786 (GRCm39)	D664G	possibly damaging	Het
Map3k5	C	A	10: 20,007,798 (GRCm39)	S1201Y	probably benign	Het
Mcm2	T	C	6: 88,868,973 (GRCm39)	E293G	possibly damaging	Het
Med21	T	A	6: 146,551,599 (GRCm39)		probably null	Het
Mettl18	T	C	1: 163,824,354 (GRCm39)	V225A	probably benign	Het
Mmp10	A	T	9: 7,508,169 (GRCm39)	I432F	probably damaging	Het
Muc5b	T	G	7: 141,415,185 (GRCm39)	Y2710*	probably null	Het
Neurl4	A	T	11: 69,801,894 (GRCm39)	I1282F	probably benign	Het
Nipbl	A	T	15: 8,395,313 (GRCm39)	H191Q	possibly damaging	Het
Nktr	A	G	9: 121,570,759 (GRCm39)	D167G	probably damaging	Het
Nrap	A	G	19: 56,368,669 (GRCm39)	I249T	probably damaging	Het
Nsfl1c	A	G	2: 151,351,526 (GRCm39)	T297A	probably benign	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Or1e1	G	A	11: 73,245,322 (GRCm39)	V248M	probably damaging	Het
Or4a39	C	T	2: 89,236,599 (GRCm39)	V275I	probably benign	Het
Or4k6	A	G	14: 50,476,190 (GRCm39)	S51P	probably damaging	Het
Or5b24	C	T	19: 12,912,581 (GRCm39)	H160Y	probably benign	Het
Or5d36	T	A	2: 87,900,956 (GRCm39)	I257L	probably benign	Het
Pcnx2	T	C	8: 126,614,327 (GRCm39)	S375G	probably damaging	Het
Pgap6	T	C	17: 26,335,757 (GRCm39)	F48S	probably damaging	Het
Phf2	A	T	13: 48,975,185 (GRCm39)		probably null	Het
Piezo1	A	T	8: 123,213,678 (GRCm39)	M1739K	possibly damaging	Het
Piezo1	G	T	8: 123,224,945 (GRCm39)	Q654K	probably damaging	Het
Pml	C	T	9: 58,141,935 (GRCm39)	R299H	probably damaging	Het
Ppp3cb	A	T	14: 20,574,130 (GRCm39)	M236K	probably damaging	Het
Prkch	T	A	12: 73,739,734 (GRCm39)	C203S	probably damaging	Het
Prob1	C	T	18: 35,785,869 (GRCm39)	R795H	possibly damaging	Het
Prr22	G	C	17: 57,078,274 (GRCm39)	E142D	possibly damaging	Het
Prss56	C	A	1: 87,113,305 (GRCm39)	A211E	possibly damaging	Het
Qser1	A	C	2: 104,617,649 (GRCm39)	S1054R	probably benign	Het
Rhbdl2	T	C	4: 123,720,694 (GRCm39)		probably null	Het
Rhot2	C	A	17: 26,063,248 (GRCm39)	G19V	probably damaging	Het
Rp1l1	C	T	14: 64,267,249 (GRCm39)	T945M	probably damaging	Het
Ryr3	T	C	2: 112,794,750 (GRCm39)	T121A	possibly damaging	Het
Sdad1	C	T	5: 92,452,836 (GRCm39)	R134Q	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sharpin	T	A	15: 76,231,767 (GRCm39)	D314V	probably damaging	Het
Slc14a2	A	T	18: 78,198,796 (GRCm39)	L778Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc4a11	C	A	2: 130,532,787 (GRCm39)	R222L	probably damaging	Het
Slc7a10	C	T	7: 34,900,187 (GRCm39)	P502S	probably damaging	Het
Sort1	T	G	3: 108,263,639 (GRCm39)	Y812*	probably null	Het
Spata31d1b	G	A	13: 59,866,172 (GRCm39)	V1107M	probably damaging	Het
Tcp10b	G	A	17: 13,289,832 (GRCm39)		probably null	Het
Tnc	T	C	4: 63,913,876 (GRCm39)	D1312G	possibly damaging	Het
Tomm40l	G	A	1: 171,047,131 (GRCm39)	R296*	probably null	Het
Topors	A	T	4: 40,261,015 (GRCm39)	S756R	unknown	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Ube2o	T	C	11: 116,432,734 (GRCm39)	D744G	probably benign	Het
Vmn1r224	A	G	17: 20,640,013 (GRCm39)	I197V	probably benign	Het
Zc3h18	A	T	8: 123,110,382 (GRCm39)	D77V	probably damaging	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
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'- TAGCGAGACTTAAATGCCACC -3'
(R):5'- AGGGTCCTCTGAGAGTTGGTAC -3'

Sequencing Primer
(F):5'- GAGACTTAAATGCCACCCTCTCTC -3'
(R):5'- GAGTTGGTACCTAGAGCCTAACC -3'

Posted On

2015-11-11