Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:Grin2d'

573025

Institutional Source

Beutler Lab

Gene Symbol

Grin2d

Ensembl Gene

ENSMUSG00000002771

Gene Name

glutamate receptor, ionotropic, NMDA2D (epsilon 4)

Synonyms

GluN2D, GluRepsilon4, NMDAR2D, NR2D

MMRRC Submission

045467-MU

Accession Numbers

Essential gene?

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

Stock #

R7385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45481307-45520708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45506960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 505 (V505A)

Ref Sequence

ENSEMBL: ENSMUSP00000002848 (fasta)

Gene Model

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

AlphaFold

Q03391

Predicted Effect

probably damaging
Transcript: ENSMUST00000002848
AA Change: V505A

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

SMART Domains

Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: V505A

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: V505A

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

Meta Mutation Damage Score

0.5862

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Cald1	A	G	6: 34,663,000 (GRCm39)	E21G	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4d6	T	C	19: 12,086,061 (GRCm39)	N57S	probably damaging	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
P3h3	A	T	6: 124,832,233 (GRCm39)	Y218N	probably damaging	Het
Paxip1	A	G	5: 27,986,418 (GRCm39)		probably null	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tlr9	C	A	9: 106,102,463 (GRCm39)	H585N	probably damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnni2	A	G	7: 141,996,915 (GRCm39)	N8S	probably benign	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc8	A	G	12: 98,908,547 (GRCm39)	E72G	possibly damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	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
IGL03180:Grin2d	APN	7	45,502,753 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTGCCCTTAGCTGTGAC -3'
(R):5'- CCGTAGTTTTAGCAGCCTCTGG -3'

Sequencing Primer
(F):5'- AGCTGTGACCCTCCACTTCAC -3'
(R):5'- GCCTCATGGGAGAGCCTAACAG -3'

Posted On

2019-09-13