Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Glrb'

32458

Institutional Source

Beutler Lab

Gene Symbol

Glrb

Ensembl Gene

ENSMUSG00000028020

Gene Name

glycine receptor, beta subunit

Synonyms

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0010 (G1)

Quality Score

201

Status

Validated (trace)

Chromosome

Chromosomal Location

80750906-80820967 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 80767622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142306 (fasta)

Gene Model

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

AlphaFold

P48168

Predicted Effect

probably benign
Transcript: ENSMUST00000029654

SMART Domains

Protein: ENSMUSP00000029654
Gene: ENSMUSG00000028020

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 benign
Transcript: ENSMUST00000107743

SMART Domains

Protein: ENSMUSP00000103372
Gene: ENSMUSG00000028020

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 benign
Transcript: ENSMUST00000194085

SMART Domains

Protein: ENSMUSP00000142306
Gene: ENSMUSG00000028020

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: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (89/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,410,607 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aoc1l3	A	T	6: 48,965,840 (GRCm39)	H616L	probably damaging	Het
Bbs7	T	C	3: 36,661,866 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,599,818 (GRCm39)	K1566E	probably damaging	Het
Ccdc73	C	T	2: 104,811,332 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,942,143 (GRCm39)	H124L	probably benign	Het
Cd74	A	T	18: 60,936,968 (GRCm39)		probably benign	Het
Cdk5rap2	T	C	4: 70,161,696 (GRCm39)	E270G	probably benign	Het
Ces2a	G	A	8: 105,468,028 (GRCm39)	D520N	probably benign	Het
Cldnd1	T	A	16: 58,551,622 (GRCm39)		probably benign	Het
Cox17	T	A	16: 38,167,532 (GRCm39)	C24S	possibly damaging	Het
Cyp2b9	T	A	7: 25,886,178 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,803,997 (GRCm39)	L1112P	probably benign	Het
Dennd4c	T	C	4: 86,699,814 (GRCm39)	S222P	probably damaging	Het
Dhx37	T	A	5: 125,508,680 (GRCm39)	Q85L	probably benign	Het
Egfem1	G	T	3: 29,637,068 (GRCm39)	C192F	probably damaging	Het
Eif3f	A	T	7: 108,540,212 (GRCm39)	N336Y	possibly damaging	Het
Evc2	T	A	5: 37,574,793 (GRCm39)	L1016Q	probably damaging	Het
Fam114a2	G	T	11: 57,404,982 (GRCm39)	T40N	probably damaging	Het
Fam135b	T	C	15: 71,493,881 (GRCm39)	K16R	probably damaging	Het
Fcho1	A	G	8: 72,162,643 (GRCm39)	Y725H	probably damaging	Het
Frem1	T	C	4: 82,918,335 (GRCm39)	I536V	probably benign	Het
Galnt2l	G	A	8: 122,997,337 (GRCm39)		probably benign	Het
Ginm1	T	C	10: 7,651,138 (GRCm39)		probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10320	T	C	13: 98,626,054 (GRCm39)	Y110C	probably damaging	Het
Gm3985	A	T	8: 33,432,484 (GRCm39)		noncoding transcript	Het
Gm5422	A	G	10: 31,125,750 (GRCm39)		noncoding transcript	Het
Igkv6-29	A	T	6: 70,115,754 (GRCm39)		probably benign	Het
Inpp5d	G	A	1: 87,625,268 (GRCm39)		probably null	Het
Itpr3	T	G	17: 27,339,951 (GRCm39)	V2610G	probably damaging	Het
Kmt5c	T	A	7: 4,749,207 (GRCm39)	M88K	probably benign	Het
Lrp12	C	T	15: 39,741,672 (GRCm39)	A367T	probably damaging	Het
Ltbp1	A	G	17: 75,670,386 (GRCm39)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Milr1	T	G	11: 106,657,829 (GRCm39)	*209G	probably null	Het
Mitf	A	G	6: 97,784,242 (GRCm39)	K33R	probably benign	Het
Mon2	A	C	10: 122,868,599 (GRCm39)	S485A	probably damaging	Het
Mpdu1	C	T	11: 69,549,667 (GRCm39)	G47R	probably damaging	Het
Ms4a4d	A	G	19: 11,532,190 (GRCm39)	N112S	probably damaging	Het
Mybpc3	G	A	2: 90,965,178 (GRCm39)	W1082*	probably null	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Naa15	A	T	3: 51,343,634 (GRCm39)		probably null	Het
Nav3	A	G	10: 109,659,087 (GRCm39)		probably benign	Het
Nek7	T	A	1: 138,471,942 (GRCm39)	Q66L	possibly damaging	Het
Nktr	G	A	9: 121,570,232 (GRCm39)		probably benign	Het
Nlgn1	G	T	3: 25,490,006 (GRCm39)		probably benign	Het
Npr1	T	C	3: 90,362,139 (GRCm39)	E1002G	probably damaging	Het
Nup133	A	T	8: 124,631,318 (GRCm39)	I1072N	probably damaging	Het
Oc90	C	T	15: 65,748,397 (GRCm39)	C371Y	probably damaging	Het
Or5ak24	A	T	2: 85,260,239 (GRCm39)	D311E	probably benign	Het
Or7g20	A	T	9: 18,946,618 (GRCm39)	L66F	probably damaging	Het
Or8b42	A	T	9: 38,342,216 (GRCm39)	I213F	possibly damaging	Het
Pradc1	A	T	6: 85,424,213 (GRCm39)	N44K	probably damaging	Het
Pradc1	T	C	6: 85,424,602 (GRCm39)	D116G	probably damaging	Het
Ptprk	G	A	10: 28,461,965 (GRCm39)	C91Y	probably damaging	Het
Pus7	T	C	5: 23,952,843 (GRCm39)	I491V	probably benign	Het
Rock1	T	A	18: 10,084,380 (GRCm39)	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,643,774 (GRCm39)	E55D	probably damaging	Het
Scn8a	T	C	15: 100,911,454 (GRCm39)	V958A	probably damaging	Het
Sec14l1	T	C	11: 117,034,596 (GRCm39)		probably benign	Het
Sec24c	A	G	14: 20,739,329 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,431,105 (GRCm39)	E853K	probably benign	Het
Sgk1	G	A	10: 21,873,337 (GRCm39)		probably null	Het
Shprh	C	T	10: 11,027,675 (GRCm39)	T94I	probably benign	Het
Slc16a3	T	C	11: 120,847,531 (GRCm39)	S240P	probably benign	Het
Slc5a8	T	C	10: 88,722,452 (GRCm39)	V95A	probably benign	Het
Smg1	A	T	7: 117,771,082 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,045,509 (GRCm39)	V1556I	probably benign	Het
Trappc14	T	C	5: 138,258,555 (GRCm39)		probably null	Het
Trappc4	G	A	9: 44,316,528 (GRCm39)		probably benign	Het
Tubgcp6	A	G	15: 88,987,386 (GRCm39)	S1188P	probably benign	Het
Txlna	T	G	4: 129,522,879 (GRCm39)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,978,502 (GRCm39)	F51S	possibly damaging	Het
Vmn2r6	G	A	3: 64,466,966 (GRCm39)	Q178*	probably null	Het
Wdfy3	T	C	5: 101,996,215 (GRCm39)	T3234A	probably damaging	Het
Ylpm1	C	A	12: 85,075,800 (GRCm39)	Q384K	probably damaging	Het
Zbtb41	T	G	1: 139,351,268 (GRCm39)	V127G	probably damaging	Het
Zfp605	T	A	5: 110,275,400 (GRCm39)	C173S	probably benign	Het
Zfp608	A	T	18: 55,028,286 (GRCm39)		probably benign	Het
Zhx2	T	C	15: 57,684,670 (GRCm39)	V13A	possibly damaging	Het

Other mutations in Glrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Glrb	APN	3	80,769,262 (GRCm39)	missense	probably damaging	1.00
IGL00850:Glrb	APN	3	80,769,088 (GRCm39)	missense	probably damaging	1.00
IGL01970:Glrb	APN	3	80,769,232 (GRCm39)	missense	possibly damaging	0.92
IGL02023:Glrb	APN	3	80,758,262 (GRCm39)	missense	probably benign	0.22
IGL02494:Glrb	APN	3	80,752,539 (GRCm39)	missense	probably benign	0.01
IGL02703:Glrb	APN	3	80,758,300 (GRCm39)	missense	probably benign	0.19
I1329:Glrb	UTSW	3	80,769,381 (GRCm39)	missense	probably damaging	1.00
R0003:Glrb	UTSW	3	80,763,221 (GRCm39)	missense	probably damaging	1.00
R0010:Glrb	UTSW	3	80,767,622 (GRCm39)	splice site	probably benign
R0743:Glrb	UTSW	3	80,786,987 (GRCm39)	missense	probably damaging	1.00
R1367:Glrb	UTSW	3	80,769,311 (GRCm39)	missense	probably damaging	1.00
R1491:Glrb	UTSW	3	80,819,282 (GRCm39)	missense	possibly damaging	0.81
R1699:Glrb	UTSW	3	80,769,081 (GRCm39)	missense	probably damaging	1.00
R1791:Glrb	UTSW	3	80,767,482 (GRCm39)	missense	probably damaging	1.00
R1802:Glrb	UTSW	3	80,769,264 (GRCm39)	missense	probably damaging	1.00
R2420:Glrb	UTSW	3	80,767,542 (GRCm39)	missense	probably damaging	0.97
R2422:Glrb	UTSW	3	80,767,542 (GRCm39)	missense	probably damaging	0.97
R2517:Glrb	UTSW	3	80,769,054 (GRCm39)	missense	probably damaging	1.00
R3612:Glrb	UTSW	3	80,769,337 (GRCm39)	missense	possibly damaging	0.89
R4287:Glrb	UTSW	3	80,752,539 (GRCm39)	missense	possibly damaging	0.84
R4382:Glrb	UTSW	3	80,786,946 (GRCm39)	missense	probably damaging	1.00
R4546:Glrb	UTSW	3	80,786,993 (GRCm39)	missense	probably damaging	0.99
R4874:Glrb	UTSW	3	80,758,349 (GRCm39)	missense	possibly damaging	0.84
R5816:Glrb	UTSW	3	80,769,286 (GRCm39)	missense	probably damaging	1.00
R5826:Glrb	UTSW	3	80,752,449 (GRCm39)	missense	probably damaging	0.99
R6711:Glrb	UTSW	3	80,752,281 (GRCm39)	missense	probably benign	0.02
R7738:Glrb	UTSW	3	80,767,491 (GRCm39)	missense	probably damaging	0.98
R8206:Glrb	UTSW	3	80,758,373 (GRCm39)	missense	probably damaging	1.00
R8902:Glrb	UTSW	3	80,769,285 (GRCm39)	missense	probably damaging	1.00
R8976:Glrb	UTSW	3	80,758,363 (GRCm39)	missense	probably damaging	1.00
R9077:Glrb	UTSW	3	80,763,217 (GRCm39)	missense	probably damaging	1.00
R9411:Glrb	UTSW	3	80,767,610 (GRCm39)	critical splice acceptor site	probably null
Z1088:Glrb	UTSW	3	80,752,541 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCAAAACTTGGCAACGTCTAAGAAAACC -3'
(R):5'- CGTGAGCTTCAATCTCACTTTCACGG -3'

Sequencing Primer
(F):5'- AGGCTCTTACCAAGAGAATTACG -3'
(R):5'- CACTTTCACGGTTTTTACTGATAGG -3'

Posted On

2013-05-09