Mutagenetix > Incidental Mutation

Incidental Mutation 'R0055:Grin2b'

58965

Institutional Source

Beutler Lab

Gene Symbol

Grin2b

Ensembl Gene

ENSMUSG00000030209

Gene Name

glutamate receptor, ionotropic, NMDA2B (epsilon 2)

Synonyms

GluRepsilon2, NMDAR2B, GluN2B, Nmdar2b, NR2B

MMRRC Submission

038349-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135713233-136173511 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135923203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 227 (I227V)

Ref Sequence

ENSEMBL: ENSMUSP00000142696 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053880
AA Change: I227V

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

SMART Domains

Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: I227V

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: I227V

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

SMART Domains

Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: I227V

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 benign
Transcript: ENSMUST00000152012
AA Change: I227V

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

SMART Domains

Protein: ENSMUSP00000142696
Gene: ENSMUSG00000030209
AA Change: I227V

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

Meta Mutation Damage Score

0.0635

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,968,161 (GRCm38)	S108R	probably damaging	Het
2010300C02Rik	A	C	1: 37,624,256 (GRCm38)	S854A	probably benign	Het
2210016F16Rik	T	C	13: 58,384,166 (GRCm38)	D192G	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,722 (GRCm38)	W369R	probably damaging	Het
A2ml1	T	C	6: 128,570,094 (GRCm38)		probably benign	Het
Atp6v1h	A	T	1: 5,084,454 (GRCm38)	T2S	probably benign	Het
Bcl11b	G	A	12: 107,965,777 (GRCm38)	P179S	probably benign	Het
Cacna1a	C	T	8: 84,580,058 (GRCm38)		probably benign	Het
Ccdc146	C	T	5: 21,297,006 (GRCm38)		probably null	Het
Ccdc61	T	C	7: 18,892,536 (GRCm38)	D128G	probably damaging	Het
Cd55	A	G	1: 130,459,576 (GRCm38)		probably benign	Het
Cdk7	C	A	13: 100,719,304 (GRCm38)	E99*	probably null	Het
Cox8a	A	T	19: 7,217,509 (GRCm38)	S2T	probably damaging	Het
Dennd5a	A	G	7: 109,899,791 (GRCm38)	I955T	possibly damaging	Het
Dopey1	A	C	9: 86,512,652 (GRCm38)	E602A	probably benign	Het
Ephx4	T	C	5: 107,413,078 (GRCm38)	L32S	probably damaging	Het
Fbxo21	T	A	5: 118,000,490 (GRCm38)	D493E	probably benign	Het
Frmd4b	A	T	6: 97,323,649 (GRCm38)		probably benign	Het
Fzd1	A	T	5: 4,756,037 (GRCm38)	M515K	possibly damaging	Het
Gli2	A	G	1: 118,890,408 (GRCm38)		probably benign	Het
Gm12887	T	A	4: 121,616,469 (GRCm38)	K61N	probably damaging	Het
Grin2a	A	T	16: 9,669,807 (GRCm38)	V409D	probably damaging	Het
Helz2	T	G	2: 181,228,821 (GRCm38)	D2879A	possibly damaging	Het
Itpr2	T	C	6: 146,323,133 (GRCm38)	N1453S	probably benign	Het
Itpr3	C	A	17: 27,098,322 (GRCm38)	S817Y	probably damaging	Het
Lin7c	T	A	2: 109,896,453 (GRCm38)		probably benign	Het
Ly75	T	C	2: 60,321,918 (GRCm38)	E1097G	probably benign	Het
Mcm10	T	C	2: 4,991,407 (GRCm38)	N882D	probably damaging	Het
Mettl13	A	T	1: 162,546,181 (GRCm38)	L167Q	probably damaging	Het
Morn2	A	T	17: 80,295,513 (GRCm38)	M1L	probably benign	Het
Mybph	G	T	1: 134,193,852 (GRCm38)	V88L	probably damaging	Het
Nefm	T	A	14: 68,121,199 (GRCm38)		probably benign	Het
Nf1	A	G	11: 79,471,551 (GRCm38)	E1497G	probably damaging	Het
Olfr1281	T	A	2: 111,328,525 (GRCm38)	Y35*	probably null	Het
Olfr137	T	C	17: 38,304,811 (GRCm38)	S217G	possibly damaging	Het
Olfr615	A	G	7: 103,561,037 (GRCm38)	K187E	probably damaging	Het
Olfr670	T	A	7: 104,960,496 (GRCm38)	T79S	possibly damaging	Het
Plcd3	C	G	11: 103,077,585 (GRCm38)	W382S	probably damaging	Het
Plxna1	T	A	6: 89,329,739 (GRCm38)	I1370F	possibly damaging	Het
Rarb	G	A	14: 16,509,066 (GRCm38)	R106C	probably damaging	Het
Rps6ka5	G	A	12: 100,678,580 (GRCm38)	T37I	probably damaging	Het
Runx1	G	T	16: 92,644,141 (GRCm38)		probably benign	Het
Scube1	A	G	15: 83,634,736 (GRCm38)	V301A	probably damaging	Het
Sema3a	A	T	5: 13,400,037 (GRCm38)	N27I	possibly damaging	Het
Slc15a3	G	T	19: 10,843,042 (GRCm38)	E8*	probably null	Het
Slc22a5	T	C	11: 53,891,206 (GRCm38)	S112G	probably benign	Het
Slc25a45	T	C	19: 5,880,467 (GRCm38)	F3L	probably damaging	Het
Slc4a4	A	C	5: 89,156,336 (GRCm38)	H502P	possibly damaging	Het
Slfn10-ps	A	G	11: 83,030,300 (GRCm38)		noncoding transcript	Het
Slit2	C	A	5: 48,281,726 (GRCm38)	C1077*	probably null	Het
Spn	A	G	7: 127,136,322 (GRCm38)	F82L	possibly damaging	Het
Tbccd1	A	G	16: 22,841,905 (GRCm38)	W54R	probably damaging	Het
Ucp1	G	T	8: 83,290,604 (GRCm38)	E8*	probably null	Het
Unc80	A	T	1: 66,506,623 (GRCm38)		probably benign	Het
Vsnl1	A	T	12: 11,386,986 (GRCm38)		probably null	Het
Zdhhc11	C	T	13: 73,982,686 (GRCm38)	Q295*	probably null	Het
Zfp457	T	A	13: 67,294,034 (GRCm38)	H63L	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TATGACACAGAGATGAGCCCCGTG -3'
(R):5'- TGGCCCATCCATTGAACAGCAAG -3'

Sequencing Primer
(F):5'- CCGTGGGGAACTCTGAAG -3'
(R):5'- CTGTCATGCTCAACATCATGGAAG -3'

Posted On

2013-07-11