Mutagenetix > Incidental Mutation

Incidental Mutation 'R2420:Glrb'

249189

Institutional Source

Beutler Lab

Gene Symbol

Glrb

Ensembl Gene

ENSMUSG00000028020

Gene Name

glycine receptor, beta subunit

Synonyms

MMRRC Submission

040382-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80750906-80820967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80767542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 226 (I226T)

Ref Sequence

ENSEMBL: ENSMUSP00000142306 (fasta)

Gene Model

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

AlphaFold

P48168

Predicted Effect

probably damaging
Transcript: ENSMUST00000029654
AA Change: I226T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029654
Gene: ENSMUSG00000028020
AA Change: I226T

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: I226T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103372
Gene: ENSMUSG00000028020
AA Change: I226T

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: I226T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142306
Gene: ENSMUSG00000028020
AA Change: I226T

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

Meta Mutation Damage Score

0.1888

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,270,921 (GRCm39)	K48R	probably damaging	Het
Acsm2	T	C	7: 119,162,857 (GRCm39)	F44L	probably damaging	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Ahnak	C	T	19: 8,986,620 (GRCm39)	P2635S	possibly damaging	Het
Ankrd17	A	T	5: 90,437,179 (GRCm39)	D555E	possibly damaging	Het
Arhgap29	A	G	3: 121,767,629 (GRCm39)	I24V	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Chst9	A	T	18: 15,585,341 (GRCm39)	N407K	probably damaging	Het
Cwf19l2	A	G	9: 3,411,341 (GRCm39)	K73E	possibly damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Egln1	T	C	8: 125,674,985 (GRCm39)	N270S	probably benign	Het
Eme1	A	G	11: 94,536,640 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,581,274 (GRCm39)	I484T	possibly damaging	Het
Entpd2	T	C	2: 25,289,295 (GRCm39)	I259T	probably benign	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Fga	A	T	3: 82,940,461 (GRCm39)	N705I	possibly damaging	Het
Gas1	G	T	13: 60,324,744 (GRCm39)		probably benign	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm44501	A	T	17: 40,889,600 (GRCm39)	H38L	possibly damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jcad	T	C	18: 4,675,952 (GRCm39)	M1238T	probably damaging	Het
Kank1	T	C	19: 25,387,821 (GRCm39)	L498S	probably damaging	Het
Krt10	G	A	11: 99,277,933 (GRCm39)	T338I	possibly damaging	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lilra6	A	G	7: 3,917,857 (GRCm39)	Y96H	probably damaging	Het
Ltc4s	A	G	11: 50,128,166 (GRCm39)		probably null	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mfn1	A	G	3: 32,623,664 (GRCm39)	I263V	probably benign	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Mug2	C	A	6: 122,060,419 (GRCm39)	T1385K	probably damaging	Het
Mypn	G	T	10: 63,028,648 (GRCm39)	Y138*	probably null	Het
Nav3	A	C	10: 109,699,674 (GRCm39)	S273R	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or4k42	T	C	2: 111,319,602 (GRCm39)		probably null	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5p51	T	C	7: 107,444,025 (GRCm39)	K305R	probably benign	Het
Pak1	A	T	7: 97,503,686 (GRCm39)	D7V	probably benign	Het
Pax3	A	T	1: 78,173,501 (GRCm39)		probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Prickle1	A	G	15: 93,401,518 (GRCm39)	F322S	probably damaging	Het
Prl8a2	A	G	13: 27,532,896 (GRCm39)	E36G	possibly damaging	Het
Prss45	A	G	9: 110,668,160 (GRCm39)	I118V	possibly damaging	Het
Psd4	T	G	2: 24,291,253 (GRCm39)	V597G	probably damaging	Het
Psmb10	A	G	8: 106,663,934 (GRCm39)	S108P	probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Shank3	A	T	15: 89,405,413 (GRCm39)	K455*	probably null	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Tep1	T	A	14: 51,071,480 (GRCm39)	H2055L	probably benign	Het
Terb1	T	C	8: 105,225,227 (GRCm39)	T14A	probably damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyr	T	A	7: 87,078,397 (GRCm39)	I488F	probably benign	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wnk1	A	G	6: 119,913,328 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp13	A	C	17: 23,795,186 (GRCm39)	Y462D	probably damaging	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	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
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
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'- ACGTAGAGAAAACCCCATCTATTTC -3'
(R):5'- GGCCACTGTGAACTTTAAGTTAC -3'

Sequencing Primer
(F):5'- AGGTTTTAACACATGGTTATGAGG -3'
(R):5'- GCATTGATATGCATATTTTCCTC -3'

Posted On

2014-11-12