Mutagenetix > Incidental Mutations

Incidental Mutation 'R1699:Glrb'

192484

Institutional Source

Beutler Lab

Gene Symbol

Glrb

Ensembl Gene

ENSMUSG00000028020

Gene Name

glycine receptor, beta subunit

Synonyms

MMRRC Submission

039732-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80843599-80913660 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80861774 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 180 (T180I)

Ref Sequence

ENSEMBL: ENSMUSP00000103372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029654] [ENSMUST00000107743] [ENSMUST00000132330] [ENSMUST00000135043] [ENSMUST00000194085]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029654
AA Change: T180I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029654
Gene: ENSMUSG00000028020
AA Change: T180I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	23	35	N/A	INTRINSIC
Pfam:Neur_chan_LBD	56	266	6.9e-55	PFAM
Pfam:Neur_chan_memb	273	492	4.2e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107743
AA Change: T180I

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

SMART Domains

Protein: ENSMUSP00000103372
Gene: ENSMUSG00000028020
AA Change: T180I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	23	35	N/A	INTRINSIC
Pfam:Neur_chan_LBD	56	266	5.7e-58	PFAM
Pfam:Neur_chan_memb	273	302	9.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132330

SMART Domains

Protein: ENSMUSP00000115014
Gene: ENSMUSG00000028020

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	23	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135043

SMART Domains

Protein: ENSMUSP00000116604
Gene: ENSMUSG00000028020

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	23	35	N/A	INTRINSIC
low complexity region	44	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193031

Predicted Effect

probably damaging
Transcript: ENSMUST00000194085
AA Change: T180I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142306
Gene: ENSMUSG00000028020
AA Change: T180I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	23	35	N/A	INTRINSIC
Pfam:Neur_chan_LBD	56	264	6.9e-55	PFAM
Pfam:Neur_chan_memb	248	441	1.1e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. This gene is transcribed throughout the central nervous system of neonatal and adult mice. In humans, mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mutations in this gene result in a neurological disorder and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	G	5: 30,483,866		probably null	Het
Abca2	A	G	2: 25,447,351	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,490,585	F341I	probably benign	Het
Adam8	A	T	7: 139,983,311	N767K	possibly damaging	Het
AI481877	T	C	4: 59,113,926	K13R	unknown	Het
Aig1	T	C	10: 13,868,622	D46G	possibly damaging	Het
Alms1	A	G	6: 85,622,880	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,784,393	I264V	probably benign	Het
Areg	T	G	5: 91,143,498	V100G	probably damaging	Het
Bcan	A	G	3: 87,989,236	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,985,463	I188N	probably damaging	Het
Ccdc189	A	T	7: 127,586,856		probably null	Het
Cdt1	T	C	8: 122,569,983	Y203H	probably damaging	Het
Chil3	A	C	3: 106,160,366		probably null	Het
Cth	A	G	3: 157,907,436	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,840,817	F132L	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dnah11	A	G	12: 118,190,868	S226P	probably damaging	Het
Egfr	A	T	11: 16,859,019	Q71L	probably benign	Het
Eml6	T	A	11: 29,746,282	K1940*	probably null	Het
Epn2	T	A	11: 61,523,188	K391*	probably null	Het
Erich1	A	T	8: 14,090,259	S2T	possibly damaging	Het
Evi5	A	C	5: 107,818,920	L245R	probably damaging	Het
Evpl	T	C	11: 116,227,588	Y731C	probably damaging	Het
Exoc3l	G	A	8: 105,295,013	H128Y	probably benign	Het
Extl1	G	A	4: 134,364,583	Q320*	probably null	Het
Fam71a	T	A	1: 191,163,821	E208D	probably benign	Het
Fam91a1	T	A	15: 58,432,948	S416T	probably benign	Het
Fam96b	A	G	8: 104,640,086	V132A	probably damaging	Het
Fat3	A	T	9: 15,938,398	S3903T	probably damaging	Het
Fer1l4	A	G	2: 156,029,685	F1392L	probably benign	Het
Fstl4	T	C	11: 53,168,178	I488T	possibly damaging	Het
Gak	A	T	5: 108,604,377	Y338*	probably null	Het
Glp2r	T	C	11: 67,757,541	T112A	probably benign	Het
Gm10118	C	T	10: 63,926,892		probably benign	Het
Gpr19	A	T	6: 134,870,229	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,975,882	N740K	probably damaging	Het
Gstk1	A	T	6: 42,246,601	T42S	probably benign	Het
Hoxd1	G	A	2: 74,764,282	A294T	probably benign	Het
Hspg2	T	A	4: 137,548,012		probably null	Het
Ift74	A	T	4: 94,685,703	N472I	probably benign	Het
Il1a	C	T	2: 129,302,893	D202N	probably damaging	Het
Islr	T	C	9: 58,157,495	D243G	probably damaging	Het
Kif21a	C	T	15: 90,959,743	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,986,026	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,185,962	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,059,959	*247Q	probably null	Het
Megf10	T	C	18: 57,277,730		probably null	Het
Mettl2	T	A	11: 105,139,718	H373Q	probably benign	Het
Mocos	A	G	18: 24,683,216	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,076,397	I115T	probably damaging	Het
Ndst1	T	C	18: 60,695,508	Y658C	probably damaging	Het
Nin	G	A	12: 70,030,938	A1031V	probably benign	Het
Nin	C	A	12: 70,045,563	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,649,847	R344*	probably null	Het
Notch2	T	C	3: 98,145,127	S1980P	probably damaging	Het
Npat	C	T	9: 53,562,660	S584L	probably benign	Het
Nphp4	A	G	4: 152,496,664	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,645,073	N51S	possibly damaging	Het
Olfr1042	T	C	2: 86,159,936	I145V	probably benign	Het
Olfr138	A	G	17: 38,275,041	K90R	probably benign	Het
Olfr1388	T	A	11: 49,444,289	I146N	possibly damaging	Het
Olfr153	A	G	2: 87,532,083	T17A	probably benign	Het
Pced1b	T	A	15: 97,384,877	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,678,354	V378A	probably damaging	Het
Pde8b	T	A	13: 95,032,866	K683N	probably damaging	Het
Pfas	T	G	11: 68,998,046		probably null	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plcd4	T	G	1: 74,548,235	S51R	probably benign	Het
Plekhh2	T	A	17: 84,577,184	Y775*	probably null	Het
Polr3a	G	A	14: 24,484,164	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,213,765	T47I	possibly damaging	Het
Pter	A	T	2: 12,994,761	D169V	probably damaging	Het
Ptpn12	A	G	5: 20,998,170	S537P	probably benign	Het
Ptpru	T	A	4: 131,779,050	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,399,005	D67E	probably damaging	Het
Rfc4	T	C	16: 23,114,233	E318G	probably benign	Het
Samd13	C	A	3: 146,662,714	R41L	probably benign	Het
Slc6a2	T	C	8: 92,972,812	I156T	possibly damaging	Het
Spag16	T	C	1: 69,996,856	F348L	probably benign	Het
Spag4	T	C	2: 156,065,422	Y21H	probably damaging	Het
Stam2	G	A	2: 52,703,175	A368V	possibly damaging	Het
Stc1	A	T	14: 69,038,327	M190L	probably benign	Het
Stxbp1	A	G	2: 32,800,617	L475P	probably damaging	Het
Syn3	A	T	10: 86,080,211	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,220,314	T251K	probably benign	Het
Tbpl2	A	T	2: 24,095,045	M29K	probably benign	Het
Tead3	T	G	17: 28,334,724	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 60,902,163	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400	M124T	probably benign	Het
Ttyh1	T	A	7: 4,119,696	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,189,893	W449*	probably null	Het
Txndc11	A	G	16: 11,087,775		probably null	Het
Usp24	T	A	4: 106,438,827	D2615E	probably damaging	Het
Vars	A	G	17: 35,014,758	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,860,527	I542T	probably benign	Het
Vwf	A	G	6: 125,643,069	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,685,900	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,341,055	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,569,454	T179I	probably damaging	Het
Zfp599	T	C	9: 22,250,404	Y155C	probably benign	Het

Other mutations in Glrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Glrb	APN	3	80861955	missense	probably damaging	1.00
IGL00850:Glrb	APN	3	80861781	missense	probably damaging	1.00
IGL01970:Glrb	APN	3	80861925	missense	possibly damaging	0.92
IGL02023:Glrb	APN	3	80850955	missense	probably benign	0.22
IGL02494:Glrb	APN	3	80845232	missense	probably benign	0.01
IGL02703:Glrb	APN	3	80850993	missense	probably benign	0.19
I1329:Glrb	UTSW	3	80862074	missense	probably damaging	1.00
R0003:Glrb	UTSW	3	80855914	missense	probably damaging	1.00
R0010:Glrb	UTSW	3	80860315	splice site	probably benign
R0010:Glrb	UTSW	3	80860315	splice site	probably benign
R0743:Glrb	UTSW	3	80879680	missense	probably damaging	1.00
R1367:Glrb	UTSW	3	80862004	missense	probably damaging	1.00
R1491:Glrb	UTSW	3	80911975	missense	possibly damaging	0.81
R1791:Glrb	UTSW	3	80860175	missense	probably damaging	1.00
R1802:Glrb	UTSW	3	80861957	missense	probably damaging	1.00
R2420:Glrb	UTSW	3	80860235	missense	probably damaging	0.97
R2422:Glrb	UTSW	3	80860235	missense	probably damaging	0.97
R2517:Glrb	UTSW	3	80861747	missense	probably damaging	1.00
R3612:Glrb	UTSW	3	80862030	missense	possibly damaging	0.89
R4287:Glrb	UTSW	3	80845232	missense	possibly damaging	0.84
R4382:Glrb	UTSW	3	80879639	missense	probably damaging	1.00
R4546:Glrb	UTSW	3	80879686	missense	probably damaging	0.99
R4874:Glrb	UTSW	3	80851042	missense	possibly damaging	0.84
R5816:Glrb	UTSW	3	80861979	missense	probably damaging	1.00
R5826:Glrb	UTSW	3	80845142	missense	probably damaging	0.99
R6711:Glrb	UTSW	3	80844974	missense	probably benign	0.02
R7738:Glrb	UTSW	3	80860184	missense	probably damaging	0.98
R8206:Glrb	UTSW	3	80851066	missense	probably damaging	1.00
Z1088:Glrb	UTSW	3	80845234	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GCCAATCCAAGTTAGTCCAGTCTTCAG -3'
(R):5'- AAAGTGCCAATTTTCATGATGTGACCC -3'

Sequencing Primer
(F):5'- GGAAAGCTCTGTCTTCTTCAAG -3'
(R):5'- GTGACCCAAGAAAATATCCTGTTG -3'

Posted On

2014-05-14