Mutagenetix > Incidental Mutation

Incidental Mutation 'R9740:Grin2b'

731794

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9740 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135713233-136173511 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 135922870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209

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

SMART Domains

Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209

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: ENSMUST00000152012

SMART Domains

Protein: ENSMUSP00000142696
Gene: ENSMUSG00000030209

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	G	11: 5,871,721 (GRCm38)	Y1087D	probably benign	Het
Bdh1	A	G	16: 31,438,035 (GRCm38)	M37V	possibly damaging	Het
Bnip3l	G	A	14: 67,008,765 (GRCm38)	P7L	possibly damaging	Het
Clec1b	C	T	6: 129,403,586 (GRCm38)	S155L	probably benign	Het
Crym	A	T	7: 120,195,438 (GRCm38)	V186D	probably benign	Het
D6Ertd527e	G	C	6: 87,111,857 (GRCm38)	S334T	unknown	Het
Det1	A	T	7: 78,844,253 (GRCm38)	M1K	probably null	Het
Fam110b	A	G	4: 5,799,070 (GRCm38)	K163E	probably benign	Het
Fam234a	A	T	17: 26,213,815 (GRCm38)	V482E	probably damaging	Het
Herc1	A	G	9: 66,448,514 (GRCm38)	E2349G	probably damaging	Het
Kdsr	A	G	1: 106,739,396 (GRCm38)	Y210H	possibly damaging	Het
Lcn6	A	T	2: 25,681,179 (GRCm38)	T110S	probably benign	Het
Macf1	T	C	4: 123,473,060 (GRCm38)	Y2636C	probably damaging	Het
Macf1	T	C	4: 123,372,384 (GRCm38)	H6807R	probably damaging	Het
Myh2	T	G	11: 67,189,226 (GRCm38)	I1115S	probably damaging	Het
Npepl1	C	A	2: 174,121,490 (GRCm38)	N438K	probably damaging	Het
Nrros	G	A	16: 32,144,849 (GRCm38)	H117Y	possibly damaging	Het
Olfr1148	T	C	2: 87,833,551 (GRCm38)	S171P	probably damaging	Het
Pitpnm3	T	C	11: 72,056,276 (GRCm38)	T782A	probably benign	Het
Pla2g4d	T	G	2: 120,277,471 (GRCm38)	Q319P	probably damaging	Het
Ptcd1	A	T	5: 145,159,484 (GRCm38)	D266E	probably benign	Het
Slitrk6	A	C	14: 110,749,998 (GRCm38)	L759W	probably damaging	Het
Slitrk6	T	G	14: 110,750,012 (GRCm38)	L754F	probably benign	Het
Sox5	A	T	6: 144,155,221 (GRCm38)	M14K	probably damaging	Het
Ssmem1	T	A	6: 30,512,455 (GRCm38)	D32E	possibly damaging	Het
St18	A	T	1: 6,803,063 (GRCm38)	R341*	probably null	Het
Stag1	T	C	9: 100,705,235 (GRCm38)	S4P	probably damaging	Het
Suz12	G	T	11: 79,999,094 (GRCm38)	E144*	probably null	Het
Tex52	A	G	6: 128,379,710 (GRCm38)	N122S	possibly damaging	Het
Tmem2	A	T	19: 21,844,741 (GRCm38)	M1167L	probably benign	Het
Tril	A	G	6: 53,818,119 (GRCm38)	L706P	possibly damaging	Het
Trim65	T	C	11: 116,130,608 (GRCm38)	D133G	probably benign	Het
Ttc6	A	T	12: 57,689,710 (GRCm38)	I1166F	probably damaging	Het
Zfp709	C	T	8: 71,889,290 (GRCm38)	R188C	probably damaging	Het
Zfp974	A	G	7: 27,910,600 (GRCm38)	C567R	probably damaging	Het
Zmiz1	A	G	14: 25,656,826 (GRCm38)	D842G	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
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
RF001:Grin2b	UTSW	6	136,044,240 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGCAATATTTAACTACATGCTCC -3'
(R):5'- GCTACACATGGATCGTGCCG -3'

Sequencing Primer
(F):5'- ATATTTAACTACATGCTCCCCACC -3'
(R):5'- ACACGGTGCCTTCAGAGTTC -3'

Posted On

2022-11-14