Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Grin3a'

281084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grin3a

Ensembl Gene

ENSMUSG00000039579

Gene Name

glutamate receptor ionotropic, NMDA3A

Synonyms

NR3A, A830097C19Rik, NMDAR-L

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

49661611-49845744 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 49792946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 262 (W262*)

Ref Sequence

ENSEMBL: ENSMUSP00000091381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076674] [ENSMUST00000093859]

AlphaFold

A2AIR5

Predicted Effect

probably null
Transcript: ENSMUST00000076674
AA Change: W262*

SMART Domains

Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: W262*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	161	181	N/A	INTRINSIC
Lig_chan-Glu_bd	557	622	9.62e-22	SMART
PBPe	565	910	1.43e-73	SMART
transmembrane domain	934	956	N/A	INTRINSIC
coiled coil region	1063	1105	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000093859
AA Change: W262*

SMART Domains

Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: W262*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	161	181	N/A	INTRINSIC
Lig_chan-Glu_bd	557	622	9.62e-22	SMART
PBPe	565	910	1.43e-73	SMART
transmembrane domain	934	956	N/A	INTRINSIC
coiled coil region	1083	1125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131797

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display increased current densities in some cerebrocortical neurons of the brain, increased levels of prepulse inhibition, and altered dendritic spine morphology. Otherwise, they display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	possibly damaging	Het

Other mutations in Grin3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Grin3a	APN	4	49770589	missense	probably damaging	1.00
IGL01541:Grin3a	APN	4	49792533	missense	probably damaging	0.98
IGL01886:Grin3a	APN	4	49702814	missense	probably damaging	1.00
IGL02367:Grin3a	APN	4	49702805	missense	probably damaging	1.00
IGL02481:Grin3a	APN	4	49702868	missense	probably damaging	1.00
IGL02830:Grin3a	APN	4	49702787	missense	possibly damaging	0.94
IGL02945:Grin3a	APN	4	49792971	missense	possibly damaging	0.86
IGL03174:Grin3a	APN	4	49771107	missense	probably damaging	1.00
R0266:Grin3a	UTSW	4	49665501	nonsense	probably null
R0597:Grin3a	UTSW	4	49665351	missense	probably damaging	1.00
R0849:Grin3a	UTSW	4	49665501	nonsense	probably null
R1448:Grin3a	UTSW	4	49702804	missense	probably damaging	1.00
R1640:Grin3a	UTSW	4	49844721	missense	probably benign
R1751:Grin3a	UTSW	4	49844423	missense	probably damaging	1.00
R1767:Grin3a	UTSW	4	49844423	missense	probably damaging	1.00
R1858:Grin3a	UTSW	4	49792437	missense	probably benign	0.01
R1860:Grin3a	UTSW	4	49665309	missense	possibly damaging	0.95
R1924:Grin3a	UTSW	4	49844988	missense	possibly damaging	0.95
R2035:Grin3a	UTSW	4	49771336	missense	probably damaging	1.00
R2108:Grin3a	UTSW	4	49665510	missense	possibly damaging	0.91
R2307:Grin3a	UTSW	4	49793033	critical splice acceptor site	probably null
R3082:Grin3a	UTSW	4	49665243	missense	probably benign	0.00
R3083:Grin3a	UTSW	4	49665243	missense	probably benign	0.00
R3430:Grin3a	UTSW	4	49792534	missense	probably benign	0.01
R3695:Grin3a	UTSW	4	49792704	missense	possibly damaging	0.81
R3932:Grin3a	UTSW	4	49672472	critical splice donor site	probably null
R4559:Grin3a	UTSW	4	49844555	missense	probably damaging	1.00
R4972:Grin3a	UTSW	4	49770484	missense	probably damaging	1.00
R4982:Grin3a	UTSW	4	49665512	missense	probably benign	0.03
R5385:Grin3a	UTSW	4	49719313	missense	probably damaging	1.00
R5423:Grin3a	UTSW	4	49770376	intron	probably benign
R5478:Grin3a	UTSW	4	49792481	missense	probably benign	0.00
R5634:Grin3a	UTSW	4	49792843	missense	probably damaging	1.00
R5790:Grin3a	UTSW	4	49792717	missense	probably damaging	1.00
R5976:Grin3a	UTSW	4	49792602	missense	probably damaging	1.00
R6271:Grin3a	UTSW	4	49792516	missense	probably benign	0.00
R6451:Grin3a	UTSW	4	49844969	missense	probably damaging	1.00
R6538:Grin3a	UTSW	4	49770856	missense	probably damaging	1.00
R6629:Grin3a	UTSW	4	49844991	missense	probably damaging	1.00
R7217:Grin3a	UTSW	4	49770741	missense	possibly damaging	0.81
R7337:Grin3a	UTSW	4	49702762	missense	probably damaging	1.00
R7338:Grin3a	UTSW	4	49771238	missense	probably benign
R7477:Grin3a	UTSW	4	49719278	missense	probably damaging	1.00
R8090:Grin3a	UTSW	4	49714224	missense	probably damaging	1.00
R8313:Grin3a	UTSW	4	49665599	missense	probably benign
R8559:Grin3a	UTSW	4	49770555	missense	probably damaging	1.00
R9103:Grin3a	UTSW	4	49771179	missense	probably damaging	0.99
R9662:Grin3a	UTSW	4	49792432	missense	possibly damaging	0.79
R9736:Grin3a	UTSW	4	49672472	critical splice donor site	probably null
R9760:Grin3a	UTSW	4	49714213	missense	probably damaging	1.00
Z1176:Grin3a	UTSW	4	49770622	missense	probably damaging	1.00

Posted On

2015-04-16