Incidental Mutation 'R2509:Grin2c'
ID 251817
Institutional Source Beutler Lab
Gene Symbol Grin2c
Ensembl Gene ENSMUSG00000020734
Gene Name glutamate receptor, ionotropic, NMDA2C (epsilon 3)
Synonyms NR2C, NMDAR2C, GluRepsilon3
MMRRC Submission 040415-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R2509 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115139995-115158069 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 115141894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 842 (K842*)
Ref Sequence ENSEMBL: ENSMUSP00000102164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003351] [ENSMUST00000061450] [ENSMUST00000100235] [ENSMUST00000106554]
AlphaFold Q01098
Predicted Effect probably null
Transcript: ENSMUST00000003351
AA Change: K842*
SMART Domains Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734
AA Change: K842*

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: ENSMUST00000061450
SMART Domains Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980

DomainStartEndE-ValueType
Pfam:Aa_trans 13 77 3.4e-10 PFAM
low complexity region 84 100 N/A INTRINSIC
Pfam:Aa_trans 128 487 4.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100235
SMART Domains Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980

DomainStartEndE-ValueType
Pfam:Aa_trans 13 81 5.5e-11 PFAM
low complexity region 84 100 N/A INTRINSIC
Pfam:Aa_trans 127 485 1.2e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106554
AA Change: K842*
SMART Domains Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734
AA Change: K842*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158919
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (105/109)
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,200,102 (GRCm39) I497V probably benign Het
4930571K23Rik C A 7: 124,968,311 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,508,587 (GRCm39) probably benign Het
Ablim1 C T 19: 57,140,791 (GRCm39) R196Q probably damaging Het
Acot11 T C 4: 106,612,516 (GRCm39) I379V possibly damaging Het
Acot4 G A 12: 84,088,647 (GRCm39) G165D probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ahctf1 T C 1: 179,598,258 (GRCm39) S945G possibly damaging Het
Akr1c13 C T 13: 4,248,583 (GRCm39) R263C probably damaging Het
Arfgap1 T A 2: 180,615,846 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,101,633 (GRCm39) K103R probably damaging Het
Cabp1 A T 5: 115,310,843 (GRCm39) N211K probably damaging Het
Cacna1c T A 6: 118,711,943 (GRCm39) D261V probably damaging Het
Car11 G A 7: 45,350,783 (GRCm39) G93E probably damaging Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cast T C 13: 74,885,735 (GRCm39) I277V probably benign Het
Cenpj T C 14: 56,769,694 (GRCm39) K1165R probably null Het
Cenpk A G 13: 104,370,675 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,169 (GRCm39) K353E probably benign Het
Cmya5 T C 13: 93,230,066 (GRCm39) Q1674R probably benign Het
Cnnm1 T A 19: 43,430,325 (GRCm39) V481D probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2c50 G A 19: 40,079,013 (GRCm39) V119I probably benign Het
Dnah7b A G 1: 46,234,447 (GRCm39) T1460A probably damaging Het
Dnah8 G A 17: 30,994,019 (GRCm39) D3379N probably benign Het
Dnajc4 C T 19: 6,968,111 (GRCm39) R55H probably damaging Het
Ebf4 C T 2: 130,148,482 (GRCm39) R98* probably null Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Ercc8 T C 13: 108,320,251 (GRCm39) probably benign Het
Exo1 T C 1: 175,733,399 (GRCm39) F75S probably damaging Het
Fam168a G T 7: 100,483,391 (GRCm39) probably null Het
Fat3 G A 9: 15,836,310 (GRCm39) R4065W possibly damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Gm5900 T A 7: 104,599,571 (GRCm39) noncoding transcript Het
Gpi1 A G 7: 33,905,348 (GRCm39) S359P probably damaging Het
Gpr156 A G 16: 37,768,149 (GRCm39) R22G probably benign Het
Greb1 A G 12: 16,774,923 (GRCm39) V158A probably damaging Het
Gsta5 T A 9: 78,202,089 (GRCm39) M1K probably null Het
Hnf4a T A 2: 163,408,161 (GRCm39) L329Q probably damaging Het
Hsp90ab1 A G 17: 45,880,267 (GRCm39) L92P probably damaging Het
Ido1 T A 8: 25,074,501 (GRCm39) R290* probably null Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Ift172 T C 5: 31,420,312 (GRCm39) N1108S probably benign Het
Igkv3-9 T A 6: 70,565,728 (GRCm39) M109K probably benign Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Iqck T G 7: 118,475,505 (GRCm39) M98R probably benign Het
Klk1b1 T C 7: 43,618,803 (GRCm39) V60A probably damaging Het
Krtap1-3 C T 11: 99,481,653 (GRCm39) E165K unknown Het
Lair1 A G 7: 4,013,782 (GRCm39) L155P probably damaging Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Mast4 G T 13: 102,990,350 (GRCm39) S57Y probably damaging Het
Mical3 T C 6: 121,011,118 (GRCm39) H360R probably damaging Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Nck2 T A 1: 43,593,393 (GRCm39) V200E probably damaging Het
Odad4 T G 11: 100,444,361 (GRCm39) L222R probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4b12 T C 2: 90,096,030 (GRCm39) Y248C possibly damaging Het
Or4c109 T G 2: 88,817,775 (GRCm39) Y257S probably damaging Het
Or4f60 T A 2: 111,902,837 (GRCm39) L30F probably benign Het
Or4k38 C T 2: 111,166,076 (GRCm39) V116I probably damaging Het
Or52n2c G A 7: 104,574,894 (GRCm39) H26Y probably benign Het
Or5b101 T A 19: 13,005,058 (GRCm39) I212F probably damaging Het
Or8b12i A G 9: 20,082,525 (GRCm39) L114P probably damaging Het
Otoa C T 7: 120,759,695 (GRCm39) T1099I probably benign Het
Pask T A 1: 93,258,485 (GRCm39) I288F possibly damaging Het
Pcnx4 T C 12: 72,613,746 (GRCm39) W564R probably damaging Het
Pip4p1 A T 14: 51,167,115 (GRCm39) Y129* probably null Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Ppp1r16b A G 2: 158,603,383 (GRCm39) Y436C possibly damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prkca T C 11: 107,870,032 (GRCm39) Y37C probably damaging Het
Rad18 T G 6: 112,652,883 (GRCm39) H238P possibly damaging Het
Rap1b T A 10: 117,654,444 (GRCm39) Q1L probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rpl3l A T 17: 24,951,360 (GRCm39) D87V possibly damaging Het
Scrn2 T C 11: 96,923,992 (GRCm39) V292A possibly damaging Het
Sdad1 A G 5: 92,453,684 (GRCm39) Y35H probably benign Het
Sez6l2 T C 7: 126,552,944 (GRCm39) S177P probably benign Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Shank1 T C 7: 44,001,148 (GRCm39) S956P unknown Het
Shank1 G A 7: 44,001,547 (GRCm39) A1089T unknown Het
Shprh G A 10: 11,042,468 (GRCm39) C817Y probably damaging Het
Spata22 C T 11: 73,236,593 (GRCm39) P300S probably damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stom C T 2: 35,210,354 (GRCm39) A217T probably damaging Het
Stpg1 T C 4: 135,263,960 (GRCm39) V341A probably benign Het
Tagap A G 17: 8,147,586 (GRCm39) T99A probably benign Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Thbs2 A G 17: 14,906,105 (GRCm39) V265A probably benign Het
Thyn1 A G 9: 26,911,316 (GRCm39) R3G possibly damaging Het
Tia1 T A 6: 86,401,312 (GRCm39) probably null Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmc8 A G 11: 117,683,511 (GRCm39) T689A possibly damaging Het
Tmem11 A T 11: 60,755,807 (GRCm39) probably null Het
Tnik T C 3: 28,722,064 (GRCm39) V1310A probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim8 C T 19: 46,503,734 (GRCm39) P429S probably benign Het
Ttn C A 2: 76,687,756 (GRCm39) probably benign Het
Ulk2 T C 11: 61,678,340 (GRCm39) Y793C probably benign Het
Vill G A 9: 118,899,370 (GRCm39) V337M possibly damaging Het
Vps53 C A 11: 75,957,661 (GRCm39) V364F possibly damaging Het
Zan A T 5: 137,454,848 (GRCm39) I1396N unknown Het
Zfa-ps A C 10: 52,420,339 (GRCm39) noncoding transcript Het
Zfp426 T C 9: 20,381,977 (GRCm39) T337A possibly damaging Het
Zfp536 T C 7: 37,267,403 (GRCm39) E671G possibly damaging Het
Zfp985 A G 4: 147,667,443 (GRCm39) T104A possibly damaging 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
BB017: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
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'- GCTTTCTAGCAAACGGCAGG -3'
(R):5'- GGCATTCCTGAGACTTGTATGTC -3'

Sequencing Primer
(F):5'- CAGGGAGGATTCAAAGCCCC -3'
(R):5'- GTATGTCCTCTCTGCCAGGG -3'
Posted On 2014-12-04