Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01523:Grin2b'

89484

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 #

IGL01523

Quality Score

Status

Chromosome

Chromosomal Location

135713233-136173511 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136044265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 13 (W13R)

Ref Sequence

ENSEMBL: ENSMUSP00000140452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053880] [ENSMUST00000111905] [ENSMUST00000125905] [ENSMUST00000143943] [ENSMUST00000152012] [ENSMUST00000188999]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053880
AA Change: W13R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: W13R

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 benign
Transcript: ENSMUST00000111905
AA Change: W13R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: W13R

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

probably null
Transcript: ENSMUST00000125905
AA Change: W13R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably null
Transcript: ENSMUST00000143943
AA Change: W13R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000152012
AA Change: W13R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142696
Gene: ENSMUSG00000030209
AA Change: W13R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:ANF_receptor	66	312	1.6e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000188999
AA Change: W13R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,976,494 (GRCm38)	E246G	probably damaging	Het
B3galt5	T	A	16: 96,315,891 (GRCm38)	D241E	probably damaging	Het
Camta1	A	G	4: 151,145,050 (GRCm38)	F442L	possibly damaging	Het
Cntnap5b	A	T	1: 100,431,779 (GRCm38)	E709V	probably benign	Het
Ctnnal1	T	C	4: 56,835,243 (GRCm38)	I345V	probably damaging	Het
Evpl	T	C	11: 116,233,444 (GRCm38)	N183S	probably damaging	Het
Fam90a1b	T	C	X: 94,356,759 (GRCm38)	D155G	probably benign	Het
Fsip2	G	A	2: 82,977,519 (GRCm38)	S1394N	probably benign	Het
Gcnt2	A	T	13: 40,887,863 (GRCm38)	Q166L	probably benign	Het
Gpatch1	T	C	7: 35,308,338 (GRCm38)	D99G	probably null	Het
Hbb-bh1	C	T	7: 103,841,817 (GRCm38)	V127M	probably benign	Het
Hc	C	T	2: 35,039,238 (GRCm38)	M282I	probably benign	Het
Hirip3	A	G	7: 126,862,704 (GRCm38)	E57G	probably damaging	Het
Inpp5j	C	T	11: 3,495,932 (GRCm38)		probably null	Het
Krt84	A	T	15: 101,528,744 (GRCm38)	V328E	probably damaging	Het
Lrriq1	C	A	10: 103,218,116 (GRCm38)	E247*	probably null	Het
Mmrn2	T	A	14: 34,403,217 (GRCm38)	F918L	probably damaging	Het
Myh13	A	G	11: 67,347,943 (GRCm38)	E704G	possibly damaging	Het
Myo16	T	A	8: 10,370,908 (GRCm38)	N249K	probably damaging	Het
Nobox	C	A	6: 43,304,123 (GRCm38)	K472N	probably damaging	Het
Olfr3	T	A	2: 36,812,403 (GRCm38)	T230S	probably benign	Het
Orc4	A	T	2: 48,917,224 (GRCm38)	S232T	probably benign	Het
Pign	A	T	1: 105,653,178 (GRCm38)	Y159N	probably damaging	Het
Rere	T	A	4: 150,615,555 (GRCm38)	V1032E	possibly damaging	Het
Ror2	T	C	13: 53,118,963 (GRCm38)	Q210R	probably benign	Het
Sh3tc2	G	A	18: 61,990,883 (GRCm38)	R905Q	probably benign	Het
Ttn	A	G	2: 76,954,983 (GRCm38)	S683P	possibly 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
IGL00835:Grin2b	APN	6	135,733,570 (GRCm38)	missense	probably damaging	1.00
IGL01401:Grin2b	APN	6	135,736,363 (GRCm38)	missense	probably damaging	1.00
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

2013-12-03