Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Grin2a'

35570

Institutional Source

Beutler Lab

Gene Symbol

Grin2a

Ensembl Gene

ENSMUSG00000059003

Gene Name

glutamate receptor, ionotropic, NMDA2A (epsilon 1)

Synonyms

GluN2A, GluRepsilon1, NR2A, NMDAR2A

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

R0211 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

9385762-9813424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9397037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1017 (S1017P)

Ref Sequence

ENSEMBL: ENSMUSP00000142900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032331] [ENSMUST00000115835] [ENSMUST00000199708]

AlphaFold

P35436

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032331
AA Change: S1017P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032331
Gene: ENSMUSG00000059003
AA Change: S1017P

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:ANF_receptor	106	301	1.6e-10	PFAM
PBPe	431	798	1.68e-70	SMART
Lig_chan-Glu_bd	439	502	2.24e-22	SMART
transmembrane domain	818	837	N/A	INTRINSIC
Pfam:NMDAR2_C	839	1464	2.1e-230	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115835
AA Change: S1017P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111501
Gene: ENSMUSG00000059003
AA Change: S1017P

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:ANF_receptor	99	300	9.2e-11	PFAM
PBPe	431	798	1.68e-70	SMART
Lig_chan-Glu_bd	439	502	2.24e-22	SMART
transmembrane domain	818	837	N/A	INTRINSIC
Pfam:NMDAR2_C	839	1464	1.2e-266	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199708
AA Change: S1017P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142900
Gene: ENSMUSG00000059003
AA Change: S1017P

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:ANF_receptor	106	301	1.6e-10	PFAM
PBPe	431	798	1.68e-70	SMART
Lig_chan-Glu_bd	439	502	2.24e-22	SMART
transmembrane domain	818	837	N/A	INTRINSIC
Pfam:NMDAR2_C	839	1464	2.1e-230	PFAM

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit jumpiness, mildly impaired long-term potentiation and spatial learning, increased locomotor activity and metabolism of dopamine and serotonin, and loss of analgesic tolerance after repeated morphine doses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,356,251 (GRCm39)	R219H	probably benign	Het
Abcc9	T	A	6: 142,634,710 (GRCm39)	I185F	probably benign	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Alk	C	T	17: 72,910,511 (GRCm39)	R65H	probably damaging	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,883,300 (GRCm39)	R1411C	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Avpr1a	T	A	10: 122,285,374 (GRCm39)	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,845,608 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,406,099 (GRCm39)	D1136E	possibly damaging	Het
Coil	T	A	11: 88,872,979 (GRCm39)	S447T	probably damaging	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnaaf4	A	T	9: 72,868,649 (GRCm39)	R127S	possibly damaging	Het
Dnajb6	T	C	5: 29,990,077 (GRCm39)		probably benign	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,517,279 (GRCm39)	I877V	possibly damaging	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Elp1	T	A	4: 56,795,545 (GRCm39)	I143F	probably damaging	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
F2	T	C	2: 91,460,503 (GRCm39)	E329G	probably damaging	Het
Foxc2	T	A	8: 121,843,355 (GRCm39)	M1K	probably null	Het
Fuz	T	A	7: 44,548,446 (GRCm39)		probably null	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
Gm6408	T	A	5: 146,419,870 (GRCm39)	F115I	probably benign	Het
Gp6	C	T	7: 4,376,208 (GRCm39)		probably null	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Hmmr	A	T	11: 40,605,635 (GRCm39)	M318K	probably damaging	Het
Ifi205	T	C	1: 173,855,994 (GRCm39)	E12G	probably benign	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,096,111 (GRCm39)	R2084L	probably benign	Het
Krt4	C	A	15: 101,831,217 (GRCm39)	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,802,171 (GRCm39)		probably null	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,811,131 (GRCm39)	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,462,738 (GRCm39)	E300A	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nrm	T	A	17: 36,175,503 (GRCm39)	L203Q	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Os9	A	G	10: 126,956,905 (GRCm39)	V27A	probably damaging	Het
Osbpl9	T	G	4: 108,930,321 (GRCm39)	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plin4	C	T	17: 56,409,242 (GRCm39)	G1326D	probably damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Pmfbp1	T	A	8: 110,268,372 (GRCm39)	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,772,925 (GRCm39)	V70A	probably benign	Het
Prkar2b	C	A	12: 32,022,183 (GRCm39)	V201L	probably benign	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Ripk3	A	T	14: 56,025,375 (GRCm39)	L63Q	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Serac1	T	A	17: 6,100,335 (GRCm39)	R438S	possibly damaging	Het
Slc19a1	T	A	10: 76,874,300 (GRCm39)	S24T	possibly damaging	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Syne2	A	T	12: 76,144,731 (GRCm39)	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tnni3k	C	T	3: 154,760,981 (GRCm39)		probably benign	Het
Togaram2	T	A	17: 72,036,243 (GRCm39)	V911D	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Vps13d	A	G	4: 144,841,348 (GRCm39)	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp536	T	A	7: 37,267,874 (GRCm39)	E514V	probably damaging	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably damaging	Het

Other mutations in Grin2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01777:Grin2a	APN	16	9,461,994 (GRCm39)	missense	probably benign	0.29
IGL03288:Grin2a	APN	16	9,487,704 (GRCm39)	missense	possibly damaging	0.85
IGL02796:Grin2a	UTSW	16	9,402,972 (GRCm39)	missense	possibly damaging	0.72
PIT4402001:Grin2a	UTSW	16	9,462,063 (GRCm39)	missense	possibly damaging	0.77
PIT4494001:Grin2a	UTSW	16	9,402,960 (GRCm39)	missense	probably damaging	0.98
R0055:Grin2a	UTSW	16	9,487,671 (GRCm39)	missense	probably damaging	0.99
R0055:Grin2a	UTSW	16	9,487,671 (GRCm39)	missense	probably damaging	0.99
R0164:Grin2a	UTSW	16	9,812,685 (GRCm39)	critical splice donor site	probably null
R0164:Grin2a	UTSW	16	9,812,685 (GRCm39)	critical splice donor site	probably null
R0390:Grin2a	UTSW	16	9,397,449 (GRCm39)	missense	possibly damaging	0.85
R0659:Grin2a	UTSW	16	9,810,336 (GRCm39)	missense	probably damaging	0.98
R0661:Grin2a	UTSW	16	9,810,336 (GRCm39)	missense	probably damaging	0.98
R0734:Grin2a	UTSW	16	9,397,475 (GRCm39)	missense	possibly damaging	0.71
R1524:Grin2a	UTSW	16	9,481,467 (GRCm39)	missense	possibly damaging	0.55
R1542:Grin2a	UTSW	16	9,397,067 (GRCm39)	missense	probably damaging	0.98
R1556:Grin2a	UTSW	16	9,525,579 (GRCm39)	missense	probably benign	0.18
R1605:Grin2a	UTSW	16	9,481,194 (GRCm39)	missense	possibly damaging	0.46
R1792:Grin2a	UTSW	16	9,810,259 (GRCm39)	missense	possibly damaging	0.53
R2024:Grin2a	UTSW	16	9,462,107 (GRCm39)	missense	possibly damaging	0.76
R2057:Grin2a	UTSW	16	9,487,608 (GRCm39)	missense	probably benign	0.14
R2344:Grin2a	UTSW	16	9,481,099 (GRCm39)	missense	probably benign	0.03
R2847:Grin2a	UTSW	16	9,579,829 (GRCm39)	missense	possibly damaging	0.73
R2848:Grin2a	UTSW	16	9,579,829 (GRCm39)	missense	possibly damaging	0.73
R2981:Grin2a	UTSW	16	9,462,087 (GRCm39)	missense	possibly damaging	0.89
R4197:Grin2a	UTSW	16	9,579,831 (GRCm39)	missense	probably damaging	1.00
R4342:Grin2a	UTSW	16	9,471,453 (GRCm39)	missense	possibly damaging	0.52
R4741:Grin2a	UTSW	16	9,481,376 (GRCm39)	missense	probably damaging	1.00
R4891:Grin2a	UTSW	16	9,475,570 (GRCm39)	missense	possibly damaging	0.51
R4925:Grin2a	UTSW	16	9,487,687 (GRCm39)	missense	probably damaging	0.98
R5563:Grin2a	UTSW	16	9,525,581 (GRCm39)	missense	probably benign	0.18
R5645:Grin2a	UTSW	16	9,810,090 (GRCm39)	missense	probably damaging	0.98
R5769:Grin2a	UTSW	16	9,579,390 (GRCm39)	missense	possibly damaging	0.89
R5885:Grin2a	UTSW	16	9,579,769 (GRCm39)	missense	possibly damaging	0.95
R6065:Grin2a	UTSW	16	9,579,771 (GRCm39)	missense	possibly damaging	0.92
R6083:Grin2a	UTSW	16	9,397,404 (GRCm39)	missense	probably benign	0.02
R6137:Grin2a	UTSW	16	9,471,313 (GRCm39)	missense	probably benign	0.32
R6286:Grin2a	UTSW	16	9,579,639 (GRCm39)	missense	possibly damaging	0.93
R6342:Grin2a	UTSW	16	9,397,198 (GRCm39)	missense	probably damaging	0.98
R6697:Grin2a	UTSW	16	9,487,704 (GRCm39)	missense	possibly damaging	0.85
R6924:Grin2a	UTSW	16	9,481,092 (GRCm39)	missense	possibly damaging	0.71
R7070:Grin2a	UTSW	16	9,397,288 (GRCm39)	missense	possibly damaging	0.92
R7235:Grin2a	UTSW	16	9,397,129 (GRCm39)	missense	probably damaging	0.98
R7274:Grin2a	UTSW	16	9,396,986 (GRCm39)	missense	possibly damaging	0.71
R7669:Grin2a	UTSW	16	9,810,327 (GRCm39)	missense	probably benign
R7990:Grin2a	UTSW	16	9,397,040 (GRCm39)	missense	possibly damaging	0.71
R8261:Grin2a	UTSW	16	9,481,382 (GRCm39)	missense	probably damaging	0.97
R8503:Grin2a	UTSW	16	9,481,413 (GRCm39)	missense	probably damaging	0.97
R8679:Grin2a	UTSW	16	9,403,089 (GRCm39)	missense	possibly damaging	0.90
R8700:Grin2a	UTSW	16	9,397,412 (GRCm39)	missense	probably benign	0.32
R8823:Grin2a	UTSW	16	9,487,758 (GRCm39)	missense	possibly damaging	0.96
R9122:Grin2a	UTSW	16	9,397,186 (GRCm39)	missense	possibly damaging	0.93
R9656:Grin2a	UTSW	16	9,397,471 (GRCm39)	missense	possibly damaging	0.71
R9674:Grin2a	UTSW	16	9,471,265 (GRCm39)	nonsense	probably null
R9786:Grin2a	UTSW	16	9,471,466 (GRCm39)	missense	possibly damaging	0.71
X0024:Grin2a	UTSW	16	9,481,063 (GRCm39)	missense	probably benign	0.36
Z1177:Grin2a	UTSW	16	9,481,441 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GGGAAGTCCACATTCTCAGGCAAG -3'
(R):5'- CCAACAGGCACAAGGATAGTCTCAG -3'

Sequencing Primer
(F):5'- GTAGATCTTATCCCTGGGAGAAC -3'
(R):5'- CAGTAACTATGTGTTTCAGGGACAG -3'

Posted On

2013-05-09