Incidental Mutation 'BB017:Grin2c'
ID 642970
Institutional Source Beutler Lab
Gene Symbol Grin2c
Ensembl Gene ENSMUSG00000020734
Gene Name glutamate receptor, ionotropic, NMDA2C (epsilon 3)
Synonyms NR2C, NMDAR2C, GluRepsilon3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # BB017
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 115139995-115158069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115147063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 377 (H377Q)
Ref Sequence ENSEMBL: ENSMUSP00000003351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003351] [ENSMUST00000106554]
AlphaFold Q01098
Predicted Effect probably benign
Transcript: ENSMUST00000003351
AA Change: H377Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734
AA Change: H377Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:ANF_receptor 99 299 5.1e-12 PFAM
PBPe 440 796 1.11e-79 SMART
Lig_chan-Glu_bd 448 500 2.79e-18 SMART
transmembrane domain 816 835 N/A INTRINSIC
Pfam:NMDAR2_C 837 924 6.8e-15 PFAM
low complexity region 941 975 N/A INTRINSIC
low complexity region 1041 1058 N/A INTRINSIC
low complexity region 1063 1076 N/A INTRINSIC
low complexity region 1173 1182 N/A INTRINSIC
low complexity region 1194 1203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106554
AA Change: H377Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734
AA Change: H377Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:ANF_receptor 100 306 6.9e-10 PFAM
PBPe 440 796 1.11e-79 SMART
Lig_chan-Glu_bd 448 500 2.79e-18 SMART
transmembrane domain 816 835 N/A INTRINSIC
Pfam:NMDAR2_C 837 926 1.1e-13 PFAM
low complexity region 941 975 N/A INTRINSIC
low complexity region 1041 1058 N/A INTRINSIC
low complexity region 1063 1076 N/A INTRINSIC
low complexity region 1173 1182 N/A INTRINSIC
low complexity region 1194 1203 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 C T 8: 41,250,107 (GRCm39) T739I probably benign Het
Adam23 G T 1: 63,624,586 (GRCm39) V805F possibly damaging Het
Adamts17 A T 7: 66,499,547 (GRCm39) R31S probably damaging Het
Ano4 T A 10: 89,163,138 (GRCm39) Y27F possibly damaging Het
Bbs2 A G 8: 94,796,625 (GRCm39) V675A probably damaging Het
Brca2 A G 5: 150,481,975 (GRCm39) E2839G probably damaging Het
Capn5 C T 7: 97,773,085 (GRCm39) V640I probably benign Het
Casp4 C T 9: 5,321,318 (GRCm39) T23M probably damaging Het
Cerk C T 15: 86,028,920 (GRCm39) E379K possibly damaging Het
Comp G A 8: 70,826,503 (GRCm39) G26D probably damaging Het
Cpxm1 G A 2: 130,236,982 (GRCm39) A220V possibly damaging Het
Cyp2c69 G T 19: 39,831,434 (GRCm39) P460T possibly damaging Het
Ddx23 T C 15: 98,546,504 (GRCm39) D555G probably damaging Het
E2f6 T A 12: 16,869,058 (GRCm39) I127K probably damaging Het
Efr3a T A 15: 65,733,589 (GRCm39) D716E probably benign Het
Esp16 T G 17: 39,850,868 (GRCm39) S82R possibly damaging Het
Fasn A C 11: 120,700,061 (GRCm39) S2199A probably benign Het
Fscb A G 12: 64,519,337 (GRCm39) S710P unknown Het
Gas7 A G 11: 67,556,217 (GRCm39) I185M probably damaging Het
Glg1 A T 8: 111,887,367 (GRCm39) L1047I possibly damaging Het
Golga5 A G 12: 102,450,681 (GRCm39) N445D probably benign Het
Hmgcs1 T C 13: 120,161,499 (GRCm39) I97T possibly damaging Het
Ifi211 T C 1: 173,733,769 (GRCm39) T131A possibly damaging Het
Ifngr1 A G 10: 19,484,931 (GRCm39) K310R probably damaging Het
Il18rap T C 1: 40,587,803 (GRCm39) V467A probably damaging Het
Itgad C A 7: 127,782,280 (GRCm39) Q239K probably benign Het
Jrkl T C 9: 13,245,506 (GRCm39) I52V possibly damaging Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Krt75 C A 15: 101,473,318 (GRCm39) *552L probably null Het
Mbd2 A G 18: 70,701,948 (GRCm39) D154G probably damaging Het
Mutyh A T 4: 116,674,153 (GRCm39) N235Y probably benign Het
Myo5b A G 18: 74,864,825 (GRCm39) T1348A probably benign Het
Ndufs7 T C 10: 80,089,619 (GRCm39) probably null Het
Nup205 T G 6: 35,171,511 (GRCm39) M458R probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1e32 A C 11: 73,705,926 (GRCm39) probably benign Het
Or1j4 G T 2: 36,740,285 (GRCm39) V76F probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or5b119 G A 19: 13,457,019 (GRCm39) P181L probably damaging Het
Or6b2 T A 1: 92,407,570 (GRCm39) M258L probably benign Het
Or8b101 A G 9: 38,020,264 (GRCm39) N89S possibly damaging Het
Or8k25 T A 2: 86,243,560 (GRCm39) T279S probably damaging Het
Plcl2 T G 17: 50,913,831 (GRCm39) I280S probably benign Het
Ppargc1a A T 5: 51,630,264 (GRCm39) Y618N unknown Het
Rab43 A T 6: 87,788,348 (GRCm39) I60N probably damaging Het
Rnf126 A T 10: 79,596,726 (GRCm39) C231S probably damaging Het
Rnf220 T A 4: 117,164,787 (GRCm39) E238D probably damaging Het
Scn9a A T 2: 66,335,193 (GRCm39) D1265E probably damaging Het
Sntb2 T A 8: 107,728,269 (GRCm39) S406T probably damaging Het
Sos1 T C 17: 80,714,267 (GRCm39) I1068V probably benign Het
Spart A G 3: 55,035,697 (GRCm39) K519E probably damaging Het
Tlx3 A T 11: 33,153,058 (GRCm39) F134L probably damaging Het
Trbj1-2 A T 6: 41,510,964 (GRCm39) T10S Het
Txk A C 5: 72,892,536 (GRCm39) L33R probably damaging Het
Ulk2 A G 11: 61,682,258 (GRCm39) probably null Het
Usp20 T C 2: 30,900,556 (GRCm39) S357P probably benign Het
Wac T A 18: 7,921,560 (GRCm39) N565K possibly damaging Het
Zfp1007 A T 5: 109,823,622 (GRCm39) C609* probably null Het
Zfp709 G T 8: 72,644,684 (GRCm39) K704N probably damaging Het
Zfp788 C T 7: 41,299,049 (GRCm39) Q562* probably null Het
Other mutations in Grin2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Grin2c APN 11 115,148,936 (GRCm39) missense possibly damaging 0.94
IGL01306:Grin2c APN 11 115,147,020 (GRCm39) missense probably benign 0.01
IGL01408:Grin2c APN 11 115,151,708 (GRCm39) missense probably damaging 1.00
IGL01539:Grin2c APN 11 115,140,932 (GRCm39) missense probably benign 0.32
IGL01931:Grin2c APN 11 115,144,736 (GRCm39) missense probably damaging 1.00
IGL01964:Grin2c APN 11 115,144,673 (GRCm39) missense probably damaging 1.00
IGL02796:Grin2c APN 11 115,141,543 (GRCm39) splice site probably benign
IGL02956:Grin2c APN 11 115,148,785 (GRCm39) missense possibly damaging 0.86
IGL03221:Grin2c APN 11 115,144,870 (GRCm39) splice site probably benign
ANU23:Grin2c UTSW 11 115,147,020 (GRCm39) missense probably benign 0.01
BB007:Grin2c UTSW 11 115,147,063 (GRCm39) missense probably benign 0.01
PIT4362001:Grin2c UTSW 11 115,140,459 (GRCm39) missense probably benign
R0011:Grin2c UTSW 11 115,146,576 (GRCm39) missense probably damaging 1.00
R0011:Grin2c UTSW 11 115,146,576 (GRCm39) missense probably damaging 1.00
R0112:Grin2c UTSW 11 115,141,960 (GRCm39) missense probably damaging 1.00
R0355:Grin2c UTSW 11 115,151,554 (GRCm39) splice site probably benign
R0681:Grin2c UTSW 11 115,140,479 (GRCm39) missense probably benign
R0791:Grin2c UTSW 11 115,141,472 (GRCm39) missense probably damaging 1.00
R0792:Grin2c UTSW 11 115,141,472 (GRCm39) missense probably damaging 1.00
R1512:Grin2c UTSW 11 115,144,676 (GRCm39) missense probably damaging 1.00
R1572:Grin2c UTSW 11 115,146,900 (GRCm39) missense possibly damaging 0.92
R1654:Grin2c UTSW 11 115,151,679 (GRCm39) missense probably benign 0.21
R1803:Grin2c UTSW 11 115,151,558 (GRCm39) critical splice donor site probably null
R1982:Grin2c UTSW 11 115,151,731 (GRCm39) missense possibly damaging 0.96
R2050:Grin2c UTSW 11 115,148,245 (GRCm39) missense possibly damaging 0.89
R2196:Grin2c UTSW 11 115,141,492 (GRCm39) missense probably benign 0.34
R2442:Grin2c UTSW 11 115,141,960 (GRCm39) missense probably damaging 1.00
R2509:Grin2c UTSW 11 115,141,894 (GRCm39) nonsense probably null
R3440:Grin2c UTSW 11 115,141,469 (GRCm39) missense probably damaging 1.00
R3965:Grin2c UTSW 11 115,151,820 (GRCm39) missense probably damaging 1.00
R4618:Grin2c UTSW 11 115,143,573 (GRCm39) missense probably damaging 1.00
R4735:Grin2c UTSW 11 115,140,422 (GRCm39) missense possibly damaging 0.63
R4856:Grin2c UTSW 11 115,151,616 (GRCm39) missense probably damaging 1.00
R4886:Grin2c UTSW 11 115,151,616 (GRCm39) missense probably damaging 1.00
R5277:Grin2c UTSW 11 115,144,639 (GRCm39) missense probably damaging 1.00
R5334:Grin2c UTSW 11 115,146,881 (GRCm39) missense possibly damaging 0.76
R5553:Grin2c UTSW 11 115,143,551 (GRCm39) missense probably null 0.96
R5711:Grin2c UTSW 11 115,141,115 (GRCm39) missense probably benign 0.32
R5784:Grin2c UTSW 11 115,149,121 (GRCm39) missense possibly damaging 0.94
R5849:Grin2c UTSW 11 115,151,817 (GRCm39) missense probably benign
R6421:Grin2c UTSW 11 115,141,956 (GRCm39) missense probably damaging 1.00
R6461:Grin2c UTSW 11 115,146,522 (GRCm39) missense possibly damaging 0.96
R6658:Grin2c UTSW 11 115,149,108 (GRCm39) missense possibly damaging 0.64
R7205:Grin2c UTSW 11 115,141,876 (GRCm39) missense probably damaging 0.99
R7611:Grin2c UTSW 11 115,143,511 (GRCm39) missense probably damaging 1.00
R7637:Grin2c UTSW 11 115,147,085 (GRCm39) splice site probably null
R7751:Grin2c UTSW 11 115,144,696 (GRCm39) missense probably damaging 1.00
R7847:Grin2c UTSW 11 115,151,804 (GRCm39) missense possibly damaging 0.68
R7920:Grin2c UTSW 11 115,144,970 (GRCm39) missense probably benign 0.33
R7930:Grin2c UTSW 11 115,147,063 (GRCm39) missense probably benign 0.01
R7940:Grin2c UTSW 11 115,146,107 (GRCm39) missense probably damaging 1.00
R7956:Grin2c UTSW 11 115,140,974 (GRCm39) missense probably benign 0.16
R8081:Grin2c UTSW 11 115,140,719 (GRCm39) missense probably damaging 0.98
R8249:Grin2c UTSW 11 115,144,663 (GRCm39) missense probably damaging 0.98
R8447:Grin2c UTSW 11 115,148,215 (GRCm39) missense probably benign 0.01
R9034:Grin2c UTSW 11 115,142,065 (GRCm39) missense probably damaging 1.00
R9409:Grin2c UTSW 11 115,144,106 (GRCm39) missense probably benign 0.06
R9432:Grin2c UTSW 11 115,142,052 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAGACACATGCACAGCAGC -3'
(R):5'- AAATGCCTTTGCCCCGAGAC -3'

Sequencing Primer
(F):5'- TGCTCTGTCTACGGCAGG -3'
(R):5'- GAGACCCCCTAATCTGTCTGC -3'
Posted On 2020-08-01