Mutagenetix > Incidental Mutation

Incidental Mutation 'R1491:Glrb'

163715

Institutional Source

Beutler Lab

Gene Symbol

Glrb

Ensembl Gene

ENSMUSG00000028020

Gene Name

glycine receptor, beta subunit

Synonyms

MMRRC Submission

039543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80750906-80820967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80819282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 39 (C39S)

Ref Sequence

ENSEMBL: ENSMUSP00000142306 (fasta)

Gene Model

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

AlphaFold

P48168

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029654
AA Change: C39S

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029654
Gene: ENSMUSG00000028020
AA Change: C39S

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
AA Change: C39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103372
Gene: ENSMUSG00000028020
AA Change: C39S

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

possibly damaging
Transcript: ENSMUST00000132330
AA Change: C39S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115014
Gene: ENSMUSG00000028020
AA Change: C39S

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

Predicted Effect

unknown
Transcript: ENSMUST00000135043
AA Change: C39S

SMART Domains

Protein: ENSMUSP00000116604
Gene: ENSMUSG00000028020
AA Change: C39S

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

possibly damaging
Transcript: ENSMUST00000194085
AA Change: C39S

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142306
Gene: ENSMUSG00000028020
AA Change: C39S

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: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	T	A	12: 112,381,489 (GRCm39)		noncoding transcript	Het
Acss3	A	G	10: 106,773,169 (GRCm39)	S606P	probably benign	Het
Adamts13	C	T	2: 26,868,327 (GRCm39)	T146M	probably damaging	Het
Adora2b	G	A	11: 62,156,363 (GRCm39)	V271M	probably benign	Het
Agpat5	A	G	8: 18,896,739 (GRCm39)	Y55C	probably damaging	Het
AI987944	A	C	7: 41,023,772 (GRCm39)	Y402*	probably null	Het
Angptl4	C	T	17: 34,000,165 (GRCm39)	A68T	possibly damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Arfgap2	A	G	2: 91,105,204 (GRCm39)	K423E	probably damaging	Het
Arfgef3	A	T	10: 18,522,302 (GRCm39)	S575T	probably damaging	Het
Arhgap24	A	G	5: 103,008,198 (GRCm39)	I40V	possibly damaging	Het
Arhgef7	T	C	8: 11,869,733 (GRCm39)		probably null	Het
Arid1a	C	A	4: 133,448,237 (GRCm39)	S477I	unknown	Het
Armc7	T	C	11: 115,367,029 (GRCm39)	V58A	probably damaging	Het
Arrdc5	A	T	17: 56,601,222 (GRCm39)	I301N	probably damaging	Het
Capn15	G	A	17: 26,183,453 (GRCm39)	P343S	probably damaging	Het
Catspere2	C	T	1: 177,843,495 (GRCm39)	T69I	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cgn	C	T	3: 94,670,535 (GRCm39)	R1002Q	probably damaging	Het
Clstn3	A	T	6: 124,414,449 (GRCm39)	I759N	possibly damaging	Het
Cops5	A	G	1: 10,104,243 (GRCm39)	V166A	possibly damaging	Het
Cramp1	G	T	17: 25,191,323 (GRCm39)	T1046K	probably benign	Het
Cthrc1	T	G	15: 38,950,072 (GRCm39)	V143G	probably damaging	Het
Cul9	G	A	17: 46,849,490 (GRCm39)	Q552*	probably null	Het
Cyp27b1	A	T	10: 126,886,957 (GRCm39)	D391V	probably damaging	Het
Dcun1d2	A	G	8: 13,331,040 (GRCm39)	L30S	probably damaging	Het
Dsc3	T	C	18: 20,120,091 (GRCm39)	E189G	probably damaging	Het
Dst	T	G	1: 34,193,675 (GRCm39)	S295A	probably damaging	Het
Dusp22	A	G	13: 30,892,798 (GRCm39)	T192A	probably benign	Het
Esp24	A	T	17: 39,349,176 (GRCm39)	M1L	probably null	Het
Evc2	G	A	5: 37,550,541 (GRCm39)		probably null	Het
Fgd6	A	G	10: 93,880,694 (GRCm39)	N516S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Fut8	T	A	12: 77,495,448 (GRCm39)	I346K	possibly damaging	Het
Gata3	A	C	2: 9,882,201 (GRCm39)	V32G	probably damaging	Het
Gpr171	A	G	3: 59,005,016 (GRCm39)	V253A	probably benign	Het
Hdac5	A	G	11: 102,092,079 (GRCm39)	V670A	probably benign	Het
Hmgxb3	T	C	18: 61,266,980 (GRCm39)	S1085G	probably benign	Het
Hspa4l	A	G	3: 40,741,226 (GRCm39)	N746S	probably benign	Het
Hyal5	A	G	6: 24,877,902 (GRCm39)	T333A	probably benign	Het
Ippk	T	C	13: 49,615,069 (GRCm39)	V484A	probably benign	Het
Jmjd8	A	T	17: 26,048,266 (GRCm39)	T33S	possibly damaging	Het
Kctd19	T	A	8: 106,113,694 (GRCm39)	I660L	possibly damaging	Het
Lrat	A	G	3: 82,810,649 (GRCm39)	V124A	probably benign	Het
Madcam1	A	G	10: 79,502,358 (GRCm39)	I281V	probably benign	Het
Mast2	T	A	4: 116,173,688 (GRCm39)	I455F	possibly damaging	Het
Mroh7	A	G	4: 106,560,255 (GRCm39)	L683P	probably benign	Het
Myo15b	C	A	11: 115,777,683 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,416,849 (GRCm39)	E814G	probably benign	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or13a20	T	G	7: 140,232,650 (GRCm39)	Y253D	probably damaging	Het
Or9a2	T	C	6: 41,748,456 (GRCm39)	Y259C	possibly damaging	Het
P2ry13	T	C	3: 59,116,939 (GRCm39)	K280E	probably damaging	Het
Paqr8	C	A	1: 21,005,048 (GRCm39)	F67L	probably benign	Het
Pfkfb3	G	T	2: 11,498,747 (GRCm39)	R37S	probably damaging	Het
Phf14	A	G	6: 11,941,478 (GRCm39)	D310G	possibly damaging	Het
Phkb	A	G	8: 86,602,286 (GRCm39)	S26G	possibly damaging	Het
Pkd1l2	T	A	8: 117,755,147 (GRCm39)	I1684F	probably damaging	Het
Plod2	T	C	9: 92,488,637 (GRCm39)	V621A	probably benign	Het
Plvap	T	C	8: 71,964,116 (GRCm39)	N82S	probably damaging	Het
Pomgnt2	A	G	9: 121,811,326 (GRCm39)	V485A	probably damaging	Het
Psmd9	A	G	5: 123,366,410 (GRCm39)	E14G	probably benign	Het
Pwwp2b	A	G	7: 138,835,879 (GRCm39)	E440G	probably damaging	Het
Rasgrp1	G	A	2: 117,113,100 (GRCm39)	Q771*	probably null	Het
Rft1	C	T	14: 30,388,744 (GRCm39)	Q223*	probably null	Het
Rgs22	C	A	15: 36,093,047 (GRCm39)	V409F	probably damaging	Het
Rgsl1	G	A	1: 153,701,672 (GRCm39)	P261S	possibly damaging	Het
Rpl7a	A	G	2: 26,801,127 (GRCm39)	N38S	probably damaging	Het
Sh3rf2	T	A	18: 42,187,004 (GRCm39)	F41Y	probably damaging	Het
Spata6	T	A	4: 111,603,388 (GRCm39)	S34R	probably damaging	Het
Sult2a3	A	T	7: 13,856,867 (GRCm39)	Y18N	probably benign	Het
Tapt1	A	G	5: 44,375,444 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,394,466 (GRCm39)	C615S	possibly damaging	Het
Trim43b	T	C	9: 88,969,665 (GRCm39)	K261R	possibly damaging	Het
Unc5c	T	A	3: 141,495,583 (GRCm39)	M484K	probably damaging	Het
Vezf1	T	A	11: 87,964,573 (GRCm39)	S242T	probably damaging	Het
Vmn2r1	A	G	3: 63,997,034 (GRCm39)	Y230C	probably damaging	Het
Vmn2r94	A	G	17: 18,477,965 (GRCm39)	S149P	probably damaging	Het
Wfdc1	T	A	8: 120,393,405 (GRCm39)		probably null	Het
Zfp975	T	C	7: 42,312,236 (GRCm39)	T126A	probably benign	Het
Zmym4	T	C	4: 126,776,105 (GRCm39)		probably null	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
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'- GCCCACAGCATCCAATTAAAGTTGC -3'
(R):5'- AAGTCACAGGCTTATCACATGCTCC -3'

Sequencing Primer
(F):5'- TTACAAAGCTTCCTTTACCAACAGG -3'
(R):5'- ATGCTCCCTAAGTGTGAATACC -3'

Posted On

2014-03-28