Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00835:Grin2b'

12651

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grin2b

Ensembl Gene

ENSMUSG00000030209

Gene Name

glutamate receptor, ionotropic, NMDA2B (epsilon 2)

Synonyms

GluRepsilon2, NMDAR2B, GluN2B, Nmdar2b, NR2B

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

135713233-136173511 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135733570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 993 (S993C)

Ref Sequence

ENSEMBL: ENSMUSP00000107536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053880] [ENSMUST00000111905]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053880
AA Change: S993C

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

SMART Domains

Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: S993C

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:ANF_receptor	106	306	8.6e-10	PFAM
PBPe	431	799	1.06e-67	SMART
Lig_chan-Glu_bd	440	503	1.82e-22	SMART
Pfam:NMDAR2_C	840	1482	4.8e-270	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111905
AA Change: S993C

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

SMART Domains

Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: S993C

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:ANF_receptor	56	307	4.2e-10	PFAM
PBPe	431	799	1.06e-67	SMART
Lig_chan-Glu_bd	440	503	1.82e-22	SMART
Pfam:NMDAR2_C	840	1482	2.1e-245	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136027

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2 subunit acts as the agonist binding site for glutamate. This receptor is the predominant excitatory neurotransmitter receptor in the mammalian brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impairments in suckling, in hippocampal long term depression, and in pattern formation of trigeminal nucleus sensory afferent terminals. Mutants die shortly after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,302,733 (GRCm38)	D1023G	probably damaging	Het
Agbl3	A	G	6: 34,799,732 (GRCm38)	D391G	probably damaging	Het
Aggf1	C	A	13: 95,362,477 (GRCm38)	V450F	probably damaging	Het
Alms1	A	G	6: 85,622,134 (GRCm38)	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,661,358 (GRCm38)	F192L	probably benign	Het
Arnt	A	G	3: 95,490,340 (GRCm38)	D541G	probably damaging	Het
AU040320	A	G	4: 126,757,071 (GRCm38)		probably null	Het
Cep290	A	T	10: 100,563,380 (GRCm38)	R2255*	probably null	Het
Creb3l4	T	A	3: 90,241,987 (GRCm38)	H138L	possibly damaging	Het
Crispld2	G	A	8: 120,010,648 (GRCm38)	R46H	probably damaging	Het
Crlf3	T	C	11: 80,047,675 (GRCm38)	T379A	probably benign	Het
Ctsb	T	A	14: 63,135,650 (GRCm38)	D85E	probably damaging	Het
Etv2	A	T	7: 30,633,667 (GRCm38)	D325E	probably benign	Het
Fggy	T	A	4: 95,837,628 (GRCm38)	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,833,726 (GRCm38)	G90S	probably damaging	Het
Glra3	A	G	8: 55,940,977 (GRCm38)		probably benign	Het
Gpatch8	C	A	11: 102,478,549 (GRCm38)	A1388S	probably damaging	Het
Gsg1	A	T	6: 135,244,092 (GRCm38)	M103K	possibly damaging	Het
Il12rb2	A	T	6: 67,360,567 (GRCm38)	V110D	probably damaging	Het
Kat8	A	G	7: 127,920,504 (GRCm38)	D174G	probably damaging	Het
Krt82	A	T	15: 101,543,378 (GRCm38)	I334N	probably damaging	Het
Lrrfip1	C	T	1: 91,115,418 (GRCm38)	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,214,239 (GRCm38)	L3F	probably benign	Het
Man1c1	T	A	4: 134,564,532 (GRCm38)	Q575L	probably damaging	Het
Panx1	A	G	9: 15,007,844 (GRCm38)	S240P	probably damaging	Het
Phldb2	G	A	16: 45,751,456 (GRCm38)	T1191I	probably damaging	Het
Plb1	G	A	5: 32,364,172 (GRCm38)	E1456K	unknown	Het
Prtn3	A	G	10: 79,881,052 (GRCm38)	T84A	probably benign	Het
R3hdm1	T	C	1: 128,235,632 (GRCm38)		probably benign	Het
Sirpa	G	A	2: 129,609,183 (GRCm38)	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,160,302 (GRCm38)	H475N	probably benign	Het
Smgc	A	T	15: 91,844,420 (GRCm38)	D121V	probably damaging	Het
Spata16	A	T	3: 26,924,262 (GRCm38)	E459V	probably damaging	Het
Sult2a4	T	A	7: 13,909,789 (GRCm38)	E284D	probably benign	Het
Tbc1d32	A	G	10: 56,089,846 (GRCm38)		probably benign	Het
Thsd7a	A	C	6: 12,554,934 (GRCm38)	V317G	probably damaging	Het
Trh	T	C	6: 92,242,789 (GRCm38)	E182G	probably benign	Het
Tsc1	A	G	2: 28,672,466 (GRCm38)	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,216,526 (GRCm38)	C205G	probably damaging	Het
Unc79	T	G	12: 103,141,890 (GRCm38)		probably benign	Het
Vps13d	A	T	4: 145,160,652 (GRCm38)	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,747,524 (GRCm38)		probably null	Het
Zfp507	G	T	7: 35,776,038 (GRCm38)	H917N	probably damaging	Het

Other mutations in Grin2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Grin2b	APN	6	135,736,331 (GRCm38)	missense	possibly damaging	0.55
IGL01401:Grin2b	APN	6	135,736,363 (GRCm38)	missense	probably damaging	1.00
IGL01523:Grin2b	APN	6	136,044,265 (GRCm38)	missense	probably null	0.99
IGL01719:Grin2b	APN	6	135,733,381 (GRCm38)	missense	probably damaging	0.97
IGL01907:Grin2b	APN	6	135,733,740 (GRCm38)	missense	probably damaging	1.00
IGL01996:Grin2b	APN	6	135,732,586 (GRCm38)	missense	probably damaging	1.00
IGL02309:Grin2b	APN	6	135,736,472 (GRCm38)	missense	probably damaging	1.00
IGL02312:Grin2b	APN	6	135,739,090 (GRCm38)	missense	probably damaging	1.00
IGL02409:Grin2b	APN	6	136,043,908 (GRCm38)	missense	possibly damaging	0.89
IGL02527:Grin2b	APN	6	135,923,391 (GRCm38)	missense	probably damaging	1.00
IGL02535:Grin2b	APN	6	135,779,369 (GRCm38)	missense	possibly damaging	0.70
IGL02570:Grin2b	APN	6	135,922,998 (GRCm38)	missense	probably damaging	1.00
IGL02702:Grin2b	APN	6	135,739,132 (GRCm38)	missense	probably damaging	0.99
IGL03001:Grin2b	APN	6	135,739,115 (GRCm38)	missense	probably damaging	1.00
IGL03274:Grin2b	APN	6	135,780,255 (GRCm38)	missense	possibly damaging	0.90
R0055:Grin2b	UTSW	6	135,923,203 (GRCm38)	missense	probably benign
R0055:Grin2b	UTSW	6	135,923,203 (GRCm38)	missense	probably benign
R0164:Grin2b	UTSW	6	135,778,648 (GRCm38)	splice site	probably benign
R0194:Grin2b	UTSW	6	135,779,305 (GRCm38)	missense	probably damaging	1.00
R0594:Grin2b	UTSW	6	135,733,929 (GRCm38)	missense	probably damaging	1.00
R1434:Grin2b	UTSW	6	135,843,195 (GRCm38)	missense	probably benign	0.04
R1928:Grin2b	UTSW	6	136,044,046 (GRCm38)	missense	probably damaging	1.00
R1942:Grin2b	UTSW	6	135,732,732 (GRCm38)	missense	possibly damaging	0.93
R1996:Grin2b	UTSW	6	136,044,211 (GRCm38)	missense	possibly damaging	0.52
R2002:Grin2b	UTSW	6	135,733,245 (GRCm38)	missense	probably damaging	1.00
R2020:Grin2b	UTSW	6	135,733,896 (GRCm38)	missense	probably benign	0.12
R2103:Grin2b	UTSW	6	135,780,140 (GRCm38)	missense	probably benign	0.02
R2127:Grin2b	UTSW	6	135,778,700 (GRCm38)	missense	probably benign	0.03
R2495:Grin2b	UTSW	6	135,733,182 (GRCm38)	missense	probably damaging	1.00
R2656:Grin2b	UTSW	6	135,733,429 (GRCm38)	missense	probably damaging	1.00
R2847:Grin2b	UTSW	6	135,740,953 (GRCm38)	missense	probably damaging	1.00
R2866:Grin2b	UTSW	6	135,733,639 (GRCm38)	missense	probably damaging	1.00
R2867:Grin2b	UTSW	6	135,733,639 (GRCm38)	missense	probably damaging	1.00
R2867:Grin2b	UTSW	6	135,733,639 (GRCm38)	missense	probably damaging	1.00
R3196:Grin2b	UTSW	6	135,732,455 (GRCm38)	small deletion	probably benign
R3418:Grin2b	UTSW	6	135,843,110 (GRCm38)	missense	probably benign	0.02
R3808:Grin2b	UTSW	6	135,923,271 (GRCm38)	missense	probably damaging	0.99
R4028:Grin2b	UTSW	6	135,736,435 (GRCm38)	missense	probably damaging	1.00
R4602:Grin2b	UTSW	6	135,778,741 (GRCm38)	missense	probably damaging	1.00
R4624:Grin2b	UTSW	6	135,733,825 (GRCm38)	missense	probably damaging	0.99
R4677:Grin2b	UTSW	6	135,774,872 (GRCm38)	missense	probably benign	0.13
R4744:Grin2b	UTSW	6	135,778,699 (GRCm38)	missense	probably damaging	1.00
R5020:Grin2b	UTSW	6	135,733,407 (GRCm38)	missense	probably benign	0.01
R5051:Grin2b	UTSW	6	135,779,395 (GRCm38)	missense	possibly damaging	0.84
R5105:Grin2b	UTSW	6	135,732,441 (GRCm38)	missense	probably benign	0.03
R5125:Grin2b	UTSW	6	135,923,299 (GRCm38)	missense	possibly damaging	0.89
R5146:Grin2b	UTSW	6	135,779,342 (GRCm38)	missense	probably damaging	1.00
R5318:Grin2b	UTSW	6	135,733,918 (GRCm38)	missense	probably damaging	0.99
R5349:Grin2b	UTSW	6	136,044,283 (GRCm38)	missense	possibly damaging	0.93
R5426:Grin2b	UTSW	6	135,732,368 (GRCm38)	missense	probably damaging	1.00
R5438:Grin2b	UTSW	6	135,736,306 (GRCm38)	missense	probably damaging	1.00
R5439:Grin2b	UTSW	6	135,736,306 (GRCm38)	missense	probably damaging	1.00
R5440:Grin2b	UTSW	6	135,736,306 (GRCm38)	missense	probably damaging	1.00
R5530:Grin2b	UTSW	6	135,733,723 (GRCm38)	missense	probably benign	0.00
R5603:Grin2b	UTSW	6	135,923,397 (GRCm38)	missense	probably damaging	1.00
R5657:Grin2b	UTSW	6	135,733,087 (GRCm38)	missense	possibly damaging	0.48
R5788:Grin2b	UTSW	6	135,740,964 (GRCm38)	missense	probably benign	0.24
R5941:Grin2b	UTSW	6	135,736,373 (GRCm38)	missense	probably damaging	0.99
R6057:Grin2b	UTSW	6	135,733,944 (GRCm38)	missense	possibly damaging	0.84
R6137:Grin2b	UTSW	6	135,923,458 (GRCm38)	missense	possibly damaging	0.89
R6216:Grin2b	UTSW	6	135,772,399 (GRCm38)	missense	probably damaging	1.00
R6309:Grin2b	UTSW	6	135,733,027 (GRCm38)	missense	probably benign	0.00
R6316:Grin2b	UTSW	6	135,780,279 (GRCm38)	missense	probably benign	0.00
R6419:Grin2b	UTSW	6	135,740,967 (GRCm38)	missense	probably damaging	1.00
R6551:Grin2b	UTSW	6	135,733,344 (GRCm38)	missense	probably damaging	1.00
R6612:Grin2b	UTSW	6	135,740,998 (GRCm38)	missense	probably damaging	1.00
R6616:Grin2b	UTSW	6	135,732,551 (GRCm38)	missense	probably benign
R6647:Grin2b	UTSW	6	135,733,110 (GRCm38)	missense	probably damaging	1.00
R6806:Grin2b	UTSW	6	135,774,828 (GRCm38)	missense	possibly damaging	0.84
R6976:Grin2b	UTSW	6	135,780,200 (GRCm38)	missense	probably benign
R7033:Grin2b	UTSW	6	135,923,038 (GRCm38)	missense	probably damaging	1.00
R7058:Grin2b	UTSW	6	135,780,306 (GRCm38)	missense	probably damaging	0.97
R7144:Grin2b	UTSW	6	135,733,476 (GRCm38)	missense	possibly damaging	0.50
R7190:Grin2b	UTSW	6	135,732,948 (GRCm38)	missense	possibly damaging	0.46
R7238:Grin2b	UTSW	6	135,780,251 (GRCm38)	missense	probably damaging	0.97
R7453:Grin2b	UTSW	6	135,740,949 (GRCm38)	missense	possibly damaging	0.56
R7553:Grin2b	UTSW	6	135,772,396 (GRCm38)	missense	possibly damaging	0.88
R7585:Grin2b	UTSW	6	135,779,303 (GRCm38)	missense	probably damaging	0.99
R7615:Grin2b	UTSW	6	135,923,364 (GRCm38)	missense	probably damaging	1.00
R7632:Grin2b	UTSW	6	135,732,555 (GRCm38)	missense	probably benign	0.02
R7779:Grin2b	UTSW	6	135,778,794 (GRCm38)	nonsense	probably null
R8058:Grin2b	UTSW	6	135,733,227 (GRCm38)	missense	probably damaging	1.00
R8084:Grin2b	UTSW	6	135,733,488 (GRCm38)	missense	probably benign	0.03
R8145:Grin2b	UTSW	6	135,732,499 (GRCm38)	missense	probably benign	0.01
R8308:Grin2b	UTSW	6	135,923,076 (GRCm38)	missense	probably damaging	0.99
R8357:Grin2b	UTSW	6	135,732,199 (GRCm38)	missense	probably benign	0.00
R8379:Grin2b	UTSW	6	135,922,969 (GRCm38)	missense	probably damaging	1.00
R8429:Grin2b	UTSW	6	135,733,916 (GRCm38)	missense	probably damaging	1.00
R8457:Grin2b	UTSW	6	135,732,199 (GRCm38)	missense	probably benign	0.00
R8746:Grin2b	UTSW	6	135,922,987 (GRCm38)	missense	probably benign	0.02
R8925:Grin2b	UTSW	6	135,772,341 (GRCm38)	missense	probably damaging	0.97
R8927:Grin2b	UTSW	6	135,772,341 (GRCm38)	missense	probably damaging	0.97
R8963:Grin2b	UTSW	6	136,044,009 (GRCm38)	missense	probably damaging	1.00
R9075:Grin2b	UTSW	6	135,732,511 (GRCm38)	frame shift	probably null
R9076:Grin2b	UTSW	6	135,732,511 (GRCm38)	frame shift	probably null
R9172:Grin2b	UTSW	6	135,779,257 (GRCm38)	missense	possibly damaging	0.84
R9520:Grin2b	UTSW	6	135,733,401 (GRCm38)	missense	probably damaging	1.00
R9740:Grin2b	UTSW	6	135,922,870 (GRCm38)	critical splice donor site	probably null
RF001:Grin2b	UTSW	6	136,044,240 (GRCm38)	missense	probably benign

Posted On

2012-12-06