Mutagenetix > Incidental Mutation

Incidental Mutation 'R1860:Grin3a'

203776

Institutional Source

Beutler Lab

Gene Symbol

Grin3a

Ensembl Gene

ENSMUSG00000039579

Gene Name

glutamate receptor ionotropic, NMDA3A

Synonyms

NMDAR-L, NR3A, A830097C19Rik

MMRRC Submission

039883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49661611-49845744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49665309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1109 (I1109V)

Ref Sequence

ENSEMBL: ENSMUSP00000091381 (fasta)

Gene Model

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

AlphaFold

A2AIR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076674
AA Change: I1089V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: I1089V

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

possibly damaging
Transcript: ENSMUST00000093859
AA Change: I1109V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: I1109V

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,098 (GRCm39)	C587R	probably damaging	Het
Abca16	T	A	7: 120,133,986 (GRCm39)	S1320T	probably benign	Het
Abra	C	A	15: 41,732,430 (GRCm39)	R212L	probably damaging	Het
Acadsb	T	A	7: 131,045,958 (GRCm39)		probably null	Het
Adam26a	A	G	8: 44,022,578 (GRCm39)	V304A	possibly damaging	Het
Adgre1	T	C	17: 57,748,363 (GRCm39)	V521A	probably benign	Het
Adh5	G	A	3: 138,159,539 (GRCm39)	V288I	probably benign	Het
Astn1	A	C	1: 158,429,515 (GRCm39)	N753T	probably damaging	Het
Atad2	A	T	15: 57,960,114 (GRCm39)		probably null	Het
Best3	A	G	10: 116,829,178 (GRCm39)	T153A	probably damaging	Het
Ccdc122	G	A	14: 77,348,847 (GRCm39)	V226I	probably damaging	Het
Ccdc175	T	C	12: 72,152,700 (GRCm39)	Q735R	probably benign	Het
Cd19	T	A	7: 126,008,813 (GRCm39)	I499F	probably damaging	Het
Cftr	T	A	6: 18,268,288 (GRCm39)	L749H	probably benign	Het
Clec2h	G	T	6: 128,652,790 (GRCm39)	G186W	probably damaging	Het
Cpsf3	T	A	12: 21,346,733 (GRCm39)	I202N	probably damaging	Het
Crebbp	G	T	16: 3,905,600 (GRCm39)	T1669N	possibly damaging	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Cul4a	G	A	8: 13,173,565 (GRCm39)	R204Q	probably damaging	Het
Derl2	A	G	11: 70,909,169 (GRCm39)	F43S	probably damaging	Het
Dnah14	T	A	1: 181,591,525 (GRCm39)	N3348K	probably damaging	Het
Dnhd1	T	C	7: 105,353,412 (GRCm39)	V2855A	probably benign	Het
Dpysl4	G	T	7: 138,670,215 (GRCm39)	C27F	probably benign	Het
Fam228b	G	A	12: 4,798,314 (GRCm39)	A163V	probably damaging	Het
Fscn1	T	C	5: 142,955,818 (GRCm39)		probably null	Het
Fzd5	C	A	1: 64,774,153 (GRCm39)	R536L	probably damaging	Het
Gm8180	T	A	14: 44,021,196 (GRCm39)	H4L	probably benign	Het
Gpr176	T	A	2: 118,203,659 (GRCm39)	N4Y	probably damaging	Het
Hcar1	T	A	5: 124,017,092 (GRCm39)	I200F	probably damaging	Het
Heatr4	G	A	12: 84,026,502 (GRCm39)	Q252*	probably null	Het
Hps1	G	A	19: 42,750,888 (GRCm39)	H371Y	probably damaging	Het
Ikzf2	T	C	1: 69,609,661 (GRCm39)	T195A	probably damaging	Het
Kdm1b	G	A	13: 47,202,666 (GRCm39)	A34T	probably benign	Het
Lef1	A	G	3: 130,905,290 (GRCm39)	N57S	probably damaging	Het
Ltn1	A	T	16: 87,213,231 (GRCm39)	D443E	probably benign	Het
Macroh2a1	A	G	13: 56,231,017 (GRCm39)	L287P	probably damaging	Het
Mamdc2	T	C	19: 23,336,517 (GRCm39)	T331A	probably damaging	Het
Marchf10	A	T	11: 105,287,904 (GRCm39)	S133T	probably damaging	Het
Mb	A	G	15: 76,901,784 (GRCm39)	Y104H	probably damaging	Het
Mrc1	C	A	2: 14,333,390 (GRCm39)	P1357Q	probably benign	Het
Nfib	C	T	4: 82,241,917 (GRCm39)	V425M	probably damaging	Het
Or12j2	G	A	7: 139,916,132 (GRCm39)	R119H	possibly damaging	Het
Or4a27	T	G	2: 88,559,674 (GRCm39)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,112,502 (GRCm39)	C139F	probably damaging	Het
Or4c127	G	A	2: 89,833,490 (GRCm39)	V247I	probably benign	Het
Or4n4	A	T	14: 50,518,848 (GRCm39)	Y287*	probably null	Het
Or52u1	T	C	7: 104,237,112 (GRCm39)	S34P	probably damaging	Het
Or5b113	T	A	19: 13,342,705 (GRCm39)	S238T	possibly damaging	Het
Or5p53	A	G	7: 107,533,597 (GRCm39)	Y290C	probably damaging	Het
Or6c208	T	C	10: 129,223,955 (GRCm39)	F151S	probably damaging	Het
Or8b51	A	T	9: 38,569,661 (GRCm39)	V9E	probably damaging	Het
Phaf1	A	G	8: 105,966,703 (GRCm39)	E150G	probably null	Het
Piezo1	T	C	8: 123,222,489 (GRCm39)	N919S	possibly damaging	Het
Prkaca	T	C	8: 84,707,852 (GRCm39)	S46P	probably benign	Het
Prkcb	T	G	7: 122,167,424 (GRCm39)	V378G	probably damaging	Het
Ptprf	A	T	4: 118,081,129 (GRCm39)	L576Q	probably damaging	Het
Rapgef4	T	C	2: 72,065,064 (GRCm39)	V687A	probably benign	Het
Rsad2	C	T	12: 26,500,616 (GRCm39)	V224I	probably damaging	Het
Ryr1	A	T	7: 28,708,977 (GRCm39)	D4796E	unknown	Het
Scn1a	C	T	2: 66,148,326 (GRCm39)	S1073N	probably damaging	Het
Slc26a3	A	G	12: 31,515,845 (GRCm39)	M582V	probably benign	Het
Tbc1d32	A	T	10: 55,999,633 (GRCm39)	Y846*	probably null	Het
Tbk1	A	T	10: 121,383,076 (GRCm39)	M719K	probably benign	Het
Timeless	A	G	10: 128,081,983 (GRCm39)	K536R	probably benign	Het
Tle6	G	T	10: 81,430,163 (GRCm39)	Q330K	probably damaging	Het
Tmem208	A	G	8: 106,061,438 (GRCm39)	K155E	possibly damaging	Het
Toe1	T	C	4: 116,662,426 (GRCm39)	Y273C	probably damaging	Het
Tppp2	A	C	14: 52,158,062 (GRCm39)	N169T	probably benign	Het
Ttll6	T	A	11: 96,029,700 (GRCm39)	Y204*	probably null	Het
Ubxn11	G	A	4: 133,852,149 (GRCm39)	S32N	probably damaging	Het
Usp8	G	A	2: 126,597,960 (GRCm39)	C961Y	probably damaging	Het
Vdac3	A	T	8: 23,070,515 (GRCm39)	I132K	possibly damaging	Het
Vmn2r124	G	T	17: 18,269,759 (GRCm39)	W5L	probably benign	Het
Vmn2r71	A	T	7: 85,264,782 (GRCm39)	D38V	probably damaging	Het
Vmn2r87	C	T	10: 130,315,755 (GRCm39)	V104I	probably benign	Het
Vmn2r97	C	T	17: 19,167,648 (GRCm39)	T634I	probably benign	Het
Vps50	T	C	6: 3,520,279 (GRCm39)		probably null	Het
Wwc2	T	C	8: 48,443,137 (GRCm39)	N32S	possibly damaging	Het
Ythdc2	T	A	18: 45,006,023 (GRCm39)	I1172K	possibly damaging	Het
Zfp14	C	T	7: 29,738,116 (GRCm39)	V290M	probably damaging	Het
Zfp317	G	A	9: 19,553,280 (GRCm39)	A18T	possibly damaging	Het
Zfp354b	A	T	11: 50,814,369 (GRCm39)	N185K	probably benign	Het
Zscan21	T	A	5: 138,124,892 (GRCm39)	D269E	probably benign	Het

Other mutations in Grin3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Grin3a	APN	4	49,770,589 (GRCm39)	missense	probably damaging	1.00
IGL01541:Grin3a	APN	4	49,792,533 (GRCm39)	missense	probably damaging	0.98
IGL01886:Grin3a	APN	4	49,702,814 (GRCm39)	missense	probably damaging	1.00
IGL02133:Grin3a	APN	4	49,792,946 (GRCm39)	nonsense	probably null
IGL02367:Grin3a	APN	4	49,702,805 (GRCm39)	missense	probably damaging	1.00
IGL02481:Grin3a	APN	4	49,702,868 (GRCm39)	missense	probably damaging	1.00
IGL02830:Grin3a	APN	4	49,702,787 (GRCm39)	missense	possibly damaging	0.94
IGL02945:Grin3a	APN	4	49,792,971 (GRCm39)	missense	possibly damaging	0.86
IGL03174:Grin3a	APN	4	49,771,107 (GRCm39)	missense	probably damaging	1.00
R0266:Grin3a	UTSW	4	49,665,501 (GRCm39)	nonsense	probably null
R0597:Grin3a	UTSW	4	49,665,351 (GRCm39)	missense	probably damaging	1.00
R0849:Grin3a	UTSW	4	49,665,501 (GRCm39)	nonsense	probably null
R1448:Grin3a	UTSW	4	49,702,804 (GRCm39)	missense	probably damaging	1.00
R1640:Grin3a	UTSW	4	49,844,721 (GRCm39)	missense	probably benign
R1751:Grin3a	UTSW	4	49,844,423 (GRCm39)	missense	probably damaging	1.00
R1767:Grin3a	UTSW	4	49,844,423 (GRCm39)	missense	probably damaging	1.00
R1858:Grin3a	UTSW	4	49,792,437 (GRCm39)	missense	probably benign	0.01
R1924:Grin3a	UTSW	4	49,844,988 (GRCm39)	missense	possibly damaging	0.95
R2035:Grin3a	UTSW	4	49,771,336 (GRCm39)	missense	probably damaging	1.00
R2108:Grin3a	UTSW	4	49,665,510 (GRCm39)	missense	possibly damaging	0.91
R2307:Grin3a	UTSW	4	49,793,033 (GRCm39)	critical splice acceptor site	probably null
R3082:Grin3a	UTSW	4	49,665,243 (GRCm39)	missense	probably benign	0.00
R3083:Grin3a	UTSW	4	49,665,243 (GRCm39)	missense	probably benign	0.00
R3430:Grin3a	UTSW	4	49,792,534 (GRCm39)	missense	probably benign	0.01
R3695:Grin3a	UTSW	4	49,792,704 (GRCm39)	missense	possibly damaging	0.81
R3932:Grin3a	UTSW	4	49,672,472 (GRCm39)	critical splice donor site	probably null
R4559:Grin3a	UTSW	4	49,844,555 (GRCm39)	missense	probably damaging	1.00
R4972:Grin3a	UTSW	4	49,770,484 (GRCm39)	missense	probably damaging	1.00
R4982:Grin3a	UTSW	4	49,665,512 (GRCm39)	missense	probably benign	0.03
R5385:Grin3a	UTSW	4	49,719,313 (GRCm39)	missense	probably damaging	1.00
R5423:Grin3a	UTSW	4	49,770,376 (GRCm39)	intron	probably benign
R5478:Grin3a	UTSW	4	49,792,481 (GRCm39)	missense	probably benign	0.00
R5634:Grin3a	UTSW	4	49,792,843 (GRCm39)	missense	probably damaging	1.00
R5790:Grin3a	UTSW	4	49,792,717 (GRCm39)	missense	probably damaging	1.00
R5976:Grin3a	UTSW	4	49,792,602 (GRCm39)	missense	probably damaging	1.00
R6271:Grin3a	UTSW	4	49,792,516 (GRCm39)	missense	probably benign	0.00
R6451:Grin3a	UTSW	4	49,844,969 (GRCm39)	missense	probably damaging	1.00
R6538:Grin3a	UTSW	4	49,770,856 (GRCm39)	missense	probably damaging	1.00
R6629:Grin3a	UTSW	4	49,844,991 (GRCm39)	missense	probably damaging	1.00
R7217:Grin3a	UTSW	4	49,770,741 (GRCm39)	missense	possibly damaging	0.81
R7337:Grin3a	UTSW	4	49,702,762 (GRCm39)	missense	probably damaging	1.00
R7338:Grin3a	UTSW	4	49,771,238 (GRCm39)	missense	probably benign
R7477:Grin3a	UTSW	4	49,719,278 (GRCm39)	missense	probably damaging	1.00
R8090:Grin3a	UTSW	4	49,714,224 (GRCm39)	missense	probably damaging	1.00
R8313:Grin3a	UTSW	4	49,665,599 (GRCm39)	missense	probably benign
R8559:Grin3a	UTSW	4	49,770,555 (GRCm39)	missense	probably damaging	1.00
R9103:Grin3a	UTSW	4	49,771,179 (GRCm39)	missense	probably damaging	0.99
R9662:Grin3a	UTSW	4	49,792,432 (GRCm39)	missense	possibly damaging	0.79
R9736:Grin3a	UTSW	4	49,672,472 (GRCm39)	critical splice donor site	probably null
R9760:Grin3a	UTSW	4	49,714,213 (GRCm39)	missense	probably damaging	1.00
Z1176:Grin3a	UTSW	4	49,770,622 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACACTTCATTTGCCAGAC -3'
(R):5'- TTCCAATCTGAGTCACGACAAC -3'

Sequencing Primer
(F):5'- GACCCCACACCTTTGTCAATAG -3'
(R):5'- CTTTAATGATGAGGAAGGACAAAACC -3'

Posted On

2014-06-23