Incidental Mutation 'R4165:Grina'
ID 321706
Institutional Source Beutler Lab
Gene Symbol Grina
Ensembl Gene ENSMUSG00000022564
Gene Name glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)
Synonyms Tmbim3, 1110025J15Rik
MMRRC Submission 041007-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R4165 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76130964-76134104 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76133529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 334 (L334Q)
Ref Sequence ENSEMBL: ENSMUSP00000023225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023225] [ENSMUST00000229380] [ENSMUST00000229772] [ENSMUST00000230347]
AlphaFold Q9ESF4
Predicted Effect probably damaging
Transcript: ENSMUST00000023225
AA Change: L334Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023225
Gene: ENSMUSG00000022564
AA Change: L334Q

DomainStartEndE-ValueType
low complexity region 27 101 N/A INTRINSIC
Pfam:Bax1-I 133 340 6.9e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184745
Predicted Effect probably benign
Transcript: ENSMUST00000229380
Predicted Effect probably benign
Transcript: ENSMUST00000229772
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229916
Predicted Effect probably benign
Transcript: ENSMUST00000230347
Meta Mutation Damage Score 0.8297 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 97% (38/39)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit no significant alterations in behavior, histopathology or clinical chemistry. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,827,044 (GRCm39) F4I probably damaging Het
Adamts8 G T 9: 30,862,684 (GRCm39) E296D probably benign Het
Alg11 T C 8: 22,555,573 (GRCm39) V278A probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Avil C T 10: 126,842,496 (GRCm39) Q92* probably null Het
Cfap300 A T 9: 8,026,071 (GRCm39) L167Q probably damaging Het
CK137956 A T 4: 127,864,522 (GRCm39) S36T possibly damaging Het
Epb41l3 T C 17: 69,514,883 (GRCm39) S7P probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fsd2 T C 7: 81,195,608 (GRCm39) T434A probably damaging Het
Gm5174 A G 10: 86,492,797 (GRCm39) noncoding transcript Het
Gpaa1 A C 15: 76,216,667 (GRCm39) probably benign Het
Gvin-ps5 T A 7: 105,929,895 (GRCm39) noncoding transcript Het
Igkv15-103 G T 6: 68,414,824 (GRCm39) G88* probably null Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm3b A T 18: 34,928,797 (GRCm39) I183F probably benign Het
Kyat3 A G 3: 142,432,066 (GRCm39) probably null Het
Larp7 A G 3: 127,330,611 (GRCm39) Y569H probably benign Het
Loxhd1 A T 18: 77,460,025 (GRCm39) I758F probably damaging Het
Nr1d2 T C 14: 18,215,446 (GRCm38) I189V probably benign Het
Odad2 A T 18: 7,217,008 (GRCm39) I668K probably damaging Het
Pcdhb19 T A 18: 37,632,243 (GRCm39) N679K probably benign Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prap1 T A 7: 139,676,091 (GRCm39) V35E probably benign Het
Prdm1 T A 10: 44,317,572 (GRCm39) Y417F probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rps3 T C 7: 99,132,816 (GRCm39) I5V probably benign Het
Sema3a A T 5: 13,523,364 (GRCm39) probably null Het
Serpina3g A T 12: 104,206,546 (GRCm39) T116S probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc22a28 A G 19: 8,040,773 (GRCm39) S493P possibly damaging Het
Snapc1 G T 12: 74,029,354 (GRCm39) probably null Het
Sobp C T 10: 42,897,644 (GRCm39) G647D probably damaging Het
Tomm22 C A 15: 79,555,206 (GRCm39) probably benign Het
Trappc11 T C 8: 47,978,003 (GRCm39) probably benign Het
Txnl4a T A 18: 80,265,471 (GRCm39) M112K probably benign Het
Vmn2r16 T C 5: 109,478,427 (GRCm39) F61L possibly damaging Het
Zfp709 C T 8: 72,644,649 (GRCm39) Q693* probably null Het
Other mutations in Grina
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Grina APN 15 76,132,501 (GRCm39) missense probably damaging 1.00
IGL02975:Grina APN 15 76,133,185 (GRCm39) missense probably damaging 1.00
IGL03135:Grina APN 15 76,132,162 (GRCm39) missense possibly damaging 0.66
R0532:Grina UTSW 15 76,133,045 (GRCm39) missense probably damaging 0.98
R1118:Grina UTSW 15 76,132,779 (GRCm39) missense probably damaging 1.00
R1481:Grina UTSW 15 76,133,289 (GRCm39) missense probably damaging 1.00
R2014:Grina UTSW 15 76,132,734 (GRCm39) missense probably damaging 0.99
R2015:Grina UTSW 15 76,132,734 (GRCm39) missense probably damaging 0.99
R4166:Grina UTSW 15 76,133,529 (GRCm39) missense probably damaging 1.00
R4755:Grina UTSW 15 76,133,442 (GRCm39) missense probably damaging 1.00
R6154:Grina UTSW 15 76,133,087 (GRCm39) missense possibly damaging 0.91
R6191:Grina UTSW 15 76,133,218 (GRCm39) missense probably damaging 1.00
R6283:Grina UTSW 15 76,132,751 (GRCm39) missense possibly damaging 0.77
R7205:Grina UTSW 15 76,133,287 (GRCm39) missense probably damaging 1.00
R8828:Grina UTSW 15 76,132,497 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGATTGTATACGCCTCGCTG -3'
(R):5'- TGCAGTGTACATACAAGAGGGC -3'

Sequencing Primer
(F):5'- AAGGCCTTTCCTGGGATGC -3'
(R):5'- CAGTGTACATACAAGAGGGCGAGAG -3'
Posted On 2015-06-12