Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Glrb'

249354

Institutional Source

Beutler Lab

Gene Symbol

Glrb

Ensembl Gene

ENSMUSG00000028020

Gene Name

glycine receptor, beta subunit

Synonyms

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2422 (G1)

Quality Score

225

Status

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: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,421,864 (GRCm39)	N47I	probably benign	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
Adck2	C	T	6: 39,560,932 (GRCm39)	A440V	possibly damaging	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc121rt3	A	T	5: 112,502,984 (GRCm39)	V240D	probably damaging	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,316,120 (GRCm39)	C186R	probably benign	Het
Cdk12	T	G	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Cdv3	T	C	9: 103,242,317 (GRCm39)		probably benign	Het
Celf2	G	A	2: 6,558,700 (GRCm39)	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,949,413 (GRCm39)	S574R	probably benign	Het
Col14a1	T	C	15: 55,313,318 (GRCm39)	L56P	unknown	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Dctn1	C	T	6: 83,176,782 (GRCm39)	L1241F	possibly damaging	Het
Depdc5	T	C	5: 33,148,379 (GRCm39)	F1505S	probably 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
Entpd7	A	T	19: 43,716,527 (GRCm39)	Y507F	possibly damaging	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Galr1	A	T	18: 82,424,048 (GRCm39)	N76K	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm4950	T	A	18: 51,998,856 (GRCm39)	Q33L	probably benign	Het
Gnat2	A	T	3: 108,002,855 (GRCm39)	M88L	probably damaging	Het
Gpr183	A	G	14: 122,191,589 (GRCm39)	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hipk3	C	T	2: 104,301,830 (GRCm39)	G121R	probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Homez	C	A	14: 55,095,031 (GRCm39)	V226F	probably benign	Het
Inf2	C	A	12: 112,577,258 (GRCm39)	A1034D	unknown	Het
Kcnc4	G	T	3: 107,352,863 (GRCm39)	P572T	probably benign	Het
Kmt2d	T	C	15: 98,760,147 (GRCm39)	E1037G	unknown	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,852 (GRCm39)	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906 (GRCm39)	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Nek1	T	C	8: 61,472,935 (GRCm39)	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,096,872 (GRCm39)	D876V	probably benign	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or11g7	T	C	14: 50,690,893 (GRCm39)	L128P	probably damaging	Het
Or5an11	A	T	19: 12,246,283 (GRCm39)	T230S	probably damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Pcdha11	G	T	18: 37,140,325 (GRCm39)	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Plxnb1	G	A	9: 108,937,506 (GRCm39)	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Pum2	A	T	12: 8,798,931 (GRCm39)	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,112,792 (GRCm39)	E67G	probably damaging	Het
Rgs9	C	A	11: 109,116,603 (GRCm39)		probably null	Het
Semp2l1	C	T	1: 32,584,942 (GRCm39)	A323T	possibly damaging	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Snx33	C	A	9: 56,825,822 (GRCm39)	M546I	probably benign	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Spata2	C	T	2: 167,326,126 (GRCm39)	R231Q	probably damaging	Het
Stard9	C	T	2: 120,530,765 (GRCm39)	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,832,557 (GRCm39)	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,600,349 (GRCm39)	E110G	probably damaging	Het
Tmem102	T	A	11: 69,695,363 (GRCm39)	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	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
Wdr77	A	T	3: 105,867,337 (GRCm39)	K62*	probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp266	C	A	9: 20,410,558 (GRCm39)	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,943,421 (GRCm39)		probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,963,143 (GRCm39)	T141I	probably benign	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
R2420: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'- CGTAGAGAAAACCCCATCTATTTC -3'
(R):5'- AGGCCACTGTGAACTTTAAGTTAC -3'

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

Posted On

2014-11-12