Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Grin2d'

412188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grin2d

Ensembl Gene

ENSMUSG00000002771

Gene Name

glutamate receptor, ionotropic, NMDA2D (epsilon 4)

Synonyms

GluN2D, GluRepsilon4, NMDAR2D, NR2D

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

45481307-45520708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45502753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 706 (K706M)

Ref Sequence

ENSEMBL: ENSMUSP00000147663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000211713]

AlphaFold

Q03391

Predicted Effect

probably damaging
Transcript: ENSMUST00000002848
AA Change: K706M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: K706M

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	33	47	N/A	INTRINSIC
low complexity region	60	73	N/A	INTRINSIC
Pfam:ANF_receptor	89	330	1.7e-12	PFAM
PBPe	428	823	4.11e-65	SMART
Lig_chan-Glu_bd	471	527	7.88e-18	SMART
transmembrane domain	843	862	N/A	INTRINSIC
low complexity region	896	931	N/A	INTRINSIC
low complexity region	932	943	N/A	INTRINSIC
low complexity region	969	1001	N/A	INTRINSIC
low complexity region	1011	1039	N/A	INTRINSIC
low complexity region	1065	1091	N/A	INTRINSIC
low complexity region	1095	1120	N/A	INTRINSIC
low complexity region	1192	1247	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000211713
AA Change: K706M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; 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 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 the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced spontaneous activity and an elevated auditory brainstem response threshold. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Aspn	C	T	13: 49,716,991 (GRCm39)	R256W	probably damaging	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,183,168 (GRCm39)	L2584F	unknown	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Cpt2	A	T	4: 107,764,157 (GRCm39)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,017,990 (GRCm39)	F38Y	probably benign	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,687,510 (GRCm39)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rab34	A	T	11: 78,081,144 (GRCm39)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,759,401 (GRCm39)		probably null	Het
Sla	A	G	15: 66,661,569 (GRCm39)	I121T	probably benign	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	probably damaging	Het

Other mutations in Grin2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Grin2d	APN	7	45,502,716 (GRCm39)	missense	probably damaging	0.99
IGL01772:Grin2d	APN	7	45,507,890 (GRCm39)	missense	probably benign	0.00
IGL01952:Grin2d	APN	7	45,511,704 (GRCm39)	missense	probably benign	0.23
IGL01994:Grin2d	APN	7	45,507,396 (GRCm39)	missense	probably damaging	1.00
IGL02161:Grin2d	APN	7	45,503,846 (GRCm39)	missense	possibly damaging	0.82
R1121:Grin2d	UTSW	7	45,503,771 (GRCm39)	missense	probably damaging	1.00
R1934:Grin2d	UTSW	7	45,506,251 (GRCm39)	missense	probably damaging	1.00
R2915:Grin2d	UTSW	7	45,482,781 (GRCm39)	unclassified	probably benign
R4162:Grin2d	UTSW	7	45,507,042 (GRCm39)	missense	probably damaging	0.98
R4753:Grin2d	UTSW	7	45,483,330 (GRCm39)	missense	probably damaging	0.98
R4781:Grin2d	UTSW	7	45,511,905 (GRCm39)	missense	probably damaging	1.00
R4785:Grin2d	UTSW	7	45,506,205 (GRCm39)	missense	probably damaging	0.96
R4820:Grin2d	UTSW	7	45,507,363 (GRCm39)	missense	probably damaging	1.00
R4877:Grin2d	UTSW	7	45,504,039 (GRCm39)	missense	probably damaging	1.00
R4979:Grin2d	UTSW	7	45,507,357 (GRCm39)	missense	probably benign	0.03
R5092:Grin2d	UTSW	7	45,503,692 (GRCm39)	missense	probably damaging	1.00
R6364:Grin2d	UTSW	7	45,507,878 (GRCm39)	missense	possibly damaging	0.54
R6565:Grin2d	UTSW	7	45,484,179 (GRCm39)	missense	probably damaging	1.00
R6747:Grin2d	UTSW	7	45,511,692 (GRCm39)	missense	probably damaging	0.99
R6816:Grin2d	UTSW	7	45,483,106 (GRCm39)	unclassified	probably benign
R7072:Grin2d	UTSW	7	45,506,922 (GRCm39)	missense	probably damaging	1.00
R7237:Grin2d	UTSW	7	45,515,600 (GRCm39)	nonsense	probably null
R7243:Grin2d	UTSW	7	45,515,552 (GRCm39)	missense	probably damaging	1.00
R7385:Grin2d	UTSW	7	45,506,960 (GRCm39)	missense	probably damaging	1.00
R7577:Grin2d	UTSW	7	45,511,803 (GRCm39)	missense	probably benign	0.01
R8100:Grin2d	UTSW	7	45,483,171 (GRCm39)	missense	unknown
R8179:Grin2d	UTSW	7	45,507,452 (GRCm39)	nonsense	probably null
R8877:Grin2d	UTSW	7	45,503,699 (GRCm39)	missense	probably damaging	1.00
R8988:Grin2d	UTSW	7	45,483,425 (GRCm39)	nonsense	probably null
R9179:Grin2d	UTSW	7	45,506,176 (GRCm39)	missense	probably damaging	1.00
R9643:Grin2d	UTSW	7	45,506,948 (GRCm39)	missense	possibly damaging	0.62
Z1177:Grin2d	UTSW	7	45,482,601 (GRCm39)	missense	unknown

Posted On

2016-08-02