Incidental Mutation 'R1615:Grm1'
ID 177060
Institutional Source Beutler Lab
Gene Symbol Grm1
Ensembl Gene ENSMUSG00000019828
Gene Name glutamate receptor, metabotropic 1
Synonyms 4930455H15Rik, Grm1, mGluR1, rcw, nmf373, Gprc1a
MMRRC Submission 039652-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R1615 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10561803-10958100 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 10617252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 510 (Y510*)
Ref Sequence ENSEMBL: ENSMUSP00000101190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]
AlphaFold P97772
Predicted Effect probably null
Transcript: ENSMUST00000044306
AA Change: Y510*
SMART Domains Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: Y510*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 1.1e-94 PFAM
Pfam:Peripla_BP_6 151 340 1.4e-10 PFAM
Pfam:NCD3G 521 571 5.5e-16 PFAM
Pfam:7tm_3 604 837 2.4e-55 PFAM
low complexity region 969 975 N/A INTRINSIC
low complexity region 983 993 N/A INTRINSIC
low complexity region 1013 1033 N/A INTRINSIC
low complexity region 1071 1088 N/A INTRINSIC
low complexity region 1093 1109 N/A INTRINSIC
low complexity region 1126 1136 N/A INTRINSIC
GluR_Homer-bdg 1149 1199 6.85e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105560
AA Change: Y510*
SMART Domains Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: Y510*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 2e-92 PFAM
Pfam:Peripla_BP_6 152 347 2.7e-12 PFAM
Pfam:NCD3G 520 571 2.7e-19 PFAM
Pfam:7tm_3 602 838 3.2e-73 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105561
AA Change: Y510*
SMART Domains Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: Y510*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 2e-92 PFAM
Pfam:Peripla_BP_6 152 347 2.7e-12 PFAM
Pfam:NCD3G 520 571 2.7e-19 PFAM
Pfam:7tm_3 602 838 3.2e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135120
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (64/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for null mutations show impairements in motor coordination, spatial learning, hippocampal mossy fiber long-term potentiation, and cerebellar long-term depression. Homozygotes for a spontaneous mutation are small and exhibit ataxia, kyphoscoliosis, albuminuria and glomerular damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,743,625 (GRCm39) C328S probably benign Het
Adgrv1 G T 13: 81,572,407 (GRCm39) T4918K probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Amer3 T C 1: 34,627,252 (GRCm39) M497T probably damaging Het
Arid2 C T 15: 96,269,535 (GRCm39) T1216M possibly damaging Het
Birc6 A G 17: 74,916,404 (GRCm39) probably null Het
Bzw2 A G 12: 36,169,126 (GRCm39) probably benign Het
Ccr1 T C 9: 123,763,573 (GRCm39) H319R probably benign Het
Dnah11 A G 12: 118,014,457 (GRCm39) I2010T probably damaging Het
Dnhd1 A G 7: 105,352,413 (GRCm39) Y2522C probably benign Het
Dnhd1 T A 7: 105,362,913 (GRCm39) I3825K possibly damaging Het
Dst A T 1: 34,238,452 (GRCm39) D3718V probably damaging Het
Esp36 A G 17: 38,730,330 (GRCm39) probably benign Het
Fbxw21 T C 9: 108,972,794 (GRCm39) Y380C probably damaging Het
Fhad1 G A 4: 141,649,634 (GRCm39) T836M probably damaging Het
Fhod1 C T 8: 106,074,463 (GRCm39) probably benign Het
Flt1 A G 5: 147,576,098 (GRCm39) C637R probably damaging Het
Fmnl2 A G 2: 53,008,436 (GRCm39) K809E probably damaging Het
Hey1 A T 3: 8,729,898 (GRCm39) H186Q possibly damaging Het
Insyn1 C T 9: 58,406,351 (GRCm39) A87V probably damaging Het
Itga2b C T 11: 102,350,963 (GRCm39) probably null Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Lmcd1 A G 6: 112,250,911 (GRCm39) D7G probably benign Het
Lrrc1 T C 9: 77,342,400 (GRCm39) D358G possibly damaging Het
Lyn A G 4: 3,748,765 (GRCm39) K248E probably benign Het
Map4k4 A G 1: 40,045,990 (GRCm39) probably benign Het
Map4k5 A T 12: 69,891,187 (GRCm39) L160H probably damaging Het
Mtcl2 T G 2: 156,862,663 (GRCm39) H1422P probably damaging Het
Myo6 C T 9: 80,215,007 (GRCm39) R1247C probably damaging Het
Myo9a A G 9: 59,695,739 (GRCm39) E347G possibly damaging Het
Ndfip1 C T 18: 38,593,672 (GRCm39) P213S probably benign Het
Neurl3 T C 1: 36,308,470 (GRCm39) E114G possibly damaging Het
Nlrp14 A T 7: 106,795,370 (GRCm39) I877F probably benign Het
Obscn A G 11: 58,990,651 (GRCm39) S1733P probably benign Het
Oxgr1 A T 14: 120,260,185 (GRCm39) S7R probably benign Het
Plcb1 A T 2: 135,204,364 (GRCm39) probably benign Het
Prkag2 G T 5: 25,080,176 (GRCm39) N120K possibly damaging Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Saraf A G 8: 34,632,442 (GRCm39) K174E possibly damaging Het
Scrib T C 15: 75,938,054 (GRCm39) Q264R probably benign Het
Sh3rf3 T A 10: 58,966,899 (GRCm39) M747K probably benign Het
Shf T C 2: 122,179,913 (GRCm39) H421R probably damaging Het
Slc35g3 A G 11: 69,651,368 (GRCm39) S228P probably damaging Het
Slit1 A G 19: 41,639,110 (GRCm39) probably benign Het
Srrm4 A G 5: 116,585,359 (GRCm39) probably benign Het
Stfa1 T G 16: 36,100,829 (GRCm39) V23G probably damaging Het
Swap70 A G 7: 109,872,498 (GRCm39) D371G probably benign Het
Tada2a T C 11: 83,993,926 (GRCm39) D186G probably damaging Het
Tdpoz3 C A 3: 93,733,618 (GRCm39) Q98K probably benign Het
Tgfbrap1 A G 1: 43,091,145 (GRCm39) V660A probably benign Het
Tnn A G 1: 159,945,978 (GRCm39) Y947H possibly damaging Het
Trim60 A T 8: 65,453,162 (GRCm39) C362* probably null Het
Vmn1r81 T A 7: 11,994,441 (GRCm39) N56Y probably damaging Het
Vsig8 A G 1: 172,387,280 (GRCm39) D52G probably damaging Het
Wdfy4 G A 14: 32,764,469 (GRCm39) R2140C probably damaging Het
Other mutations in Grm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Grm1 APN 10 10,595,783 (GRCm39) missense probably benign 0.01
IGL02078:Grm1 APN 10 10,565,354 (GRCm39) missense probably benign 0.02
IGL02156:Grm1 APN 10 10,595,720 (GRCm39) missense probably damaging 0.99
IGL02476:Grm1 APN 10 10,565,197 (GRCm39) missense probably benign 0.29
IGL02498:Grm1 APN 10 10,595,723 (GRCm39) missense probably damaging 1.00
IGL02621:Grm1 APN 10 10,564,755 (GRCm39) nonsense probably null
IGL03192:Grm1 APN 10 10,955,660 (GRCm39) missense possibly damaging 0.66
IGL03342:Grm1 APN 10 10,955,715 (GRCm39) missense probably benign 0.08
dewey UTSW 10 10,595,339 (GRCm39) missense probably damaging 1.00
Dingus UTSW 10 10,595,711 (GRCm39) missense probably benign 0.06
donald UTSW 10 10,617,252 (GRCm39) nonsense probably null
jim UTSW 10 10,595,549 (GRCm39) missense probably damaging 1.00
lightness UTSW 10 10,955,702 (GRCm39) missense probably damaging 1.00
IGL02796:Grm1 UTSW 10 10,565,411 (GRCm39) missense probably benign
R0294:Grm1 UTSW 10 10,956,143 (GRCm39) missense probably damaging 1.00
R0525:Grm1 UTSW 10 10,594,953 (GRCm39) splice site probably benign
R0554:Grm1 UTSW 10 10,595,667 (GRCm39) missense probably benign 0.01
R1184:Grm1 UTSW 10 10,595,778 (GRCm39) missense probably benign 0.40
R1319:Grm1 UTSW 10 10,565,142 (GRCm39) missense probably benign 0.05
R1403:Grm1 UTSW 10 10,955,879 (GRCm39) missense probably benign 0.00
R1403:Grm1 UTSW 10 10,955,879 (GRCm39) missense probably benign 0.00
R1467:Grm1 UTSW 10 10,595,702 (GRCm39) missense probably damaging 1.00
R1467:Grm1 UTSW 10 10,595,702 (GRCm39) missense probably damaging 1.00
R1494:Grm1 UTSW 10 10,565,450 (GRCm39) missense probably benign 0.04
R1589:Grm1 UTSW 10 10,595,711 (GRCm39) missense probably benign 0.06
R1720:Grm1 UTSW 10 10,622,538 (GRCm39) splice site probably null
R1738:Grm1 UTSW 10 10,812,163 (GRCm39) missense probably damaging 1.00
R1763:Grm1 UTSW 10 10,955,610 (GRCm39) missense possibly damaging 0.47
R1774:Grm1 UTSW 10 10,955,610 (GRCm39) missense possibly damaging 0.47
R2041:Grm1 UTSW 10 10,622,347 (GRCm39) missense probably damaging 0.98
R2092:Grm1 UTSW 10 10,564,969 (GRCm39) missense probably benign 0.00
R2198:Grm1 UTSW 10 10,658,520 (GRCm39) missense probably damaging 1.00
R2297:Grm1 UTSW 10 10,956,158 (GRCm39) missense probably benign 0.03
R2333:Grm1 UTSW 10 10,595,363 (GRCm39) missense probably benign 0.31
R2333:Grm1 UTSW 10 10,595,090 (GRCm39) missense probably damaging 0.98
R2914:Grm1 UTSW 10 10,955,601 (GRCm39) missense probably benign 0.07
R3105:Grm1 UTSW 10 10,955,601 (GRCm39) missense probably benign 0.07
R3106:Grm1 UTSW 10 10,955,601 (GRCm39) missense probably benign 0.07
R3705:Grm1 UTSW 10 10,658,473 (GRCm39) missense possibly damaging 0.95
R3931:Grm1 UTSW 10 10,595,622 (GRCm39) missense probably benign 0.44
R4810:Grm1 UTSW 10 10,658,438 (GRCm39) missense probably damaging 1.00
R4892:Grm1 UTSW 10 10,595,331 (GRCm39) missense possibly damaging 0.81
R4938:Grm1 UTSW 10 10,812,257 (GRCm39) missense probably damaging 1.00
R4947:Grm1 UTSW 10 10,658,377 (GRCm39) missense probably damaging 1.00
R4966:Grm1 UTSW 10 10,595,409 (GRCm39) nonsense probably null
R5152:Grm1 UTSW 10 10,955,619 (GRCm39) missense probably benign 0.13
R5283:Grm1 UTSW 10 10,608,936 (GRCm39) missense possibly damaging 0.70
R5317:Grm1 UTSW 10 10,622,443 (GRCm39) missense possibly damaging 0.77
R5374:Grm1 UTSW 10 10,956,186 (GRCm39) missense probably benign 0.14
R5428:Grm1 UTSW 10 10,595,307 (GRCm39) missense probably damaging 1.00
R5604:Grm1 UTSW 10 10,622,479 (GRCm39) missense probably damaging 1.00
R5894:Grm1 UTSW 10 10,955,999 (GRCm39) missense probably damaging 1.00
R5896:Grm1 UTSW 10 10,956,294 (GRCm39) utr 5 prime probably benign
R5899:Grm1 UTSW 10 10,565,092 (GRCm39) missense probably benign
R6032:Grm1 UTSW 10 10,595,549 (GRCm39) missense probably damaging 1.00
R6032:Grm1 UTSW 10 10,595,549 (GRCm39) missense probably damaging 1.00
R6139:Grm1 UTSW 10 10,622,075 (GRCm39) intron probably benign
R6144:Grm1 UTSW 10 10,955,640 (GRCm39) missense probably benign 0.08
R6208:Grm1 UTSW 10 10,595,690 (GRCm39) missense probably damaging 1.00
R6976:Grm1 UTSW 10 10,564,924 (GRCm39) missense probably benign 0.00
R7027:Grm1 UTSW 10 10,595,339 (GRCm39) missense probably damaging 1.00
R7079:Grm1 UTSW 10 10,955,702 (GRCm39) missense probably damaging 1.00
R7286:Grm1 UTSW 10 10,565,440 (GRCm39) missense probably benign 0.19
R7352:Grm1 UTSW 10 10,595,237 (GRCm39) missense probably damaging 1.00
R7484:Grm1 UTSW 10 10,622,403 (GRCm39) missense probably benign 0.06
R7838:Grm1 UTSW 10 10,956,096 (GRCm39) missense probably benign 0.02
R8108:Grm1 UTSW 10 10,595,876 (GRCm39) missense probably benign 0.01
R8379:Grm1 UTSW 10 10,564,879 (GRCm39) missense possibly damaging 0.86
R8498:Grm1 UTSW 10 10,955,605 (GRCm39) nonsense probably null
R8712:Grm1 UTSW 10 10,565,296 (GRCm39) missense probably benign 0.34
R8856:Grm1 UTSW 10 10,595,092 (GRCm39) missense probably damaging 1.00
R8904:Grm1 UTSW 10 10,595,281 (GRCm39) missense probably damaging 1.00
R9043:Grm1 UTSW 10 10,565,056 (GRCm39) nonsense probably null
R9477:Grm1 UTSW 10 10,595,405 (GRCm39) missense probably benign 0.15
R9674:Grm1 UTSW 10 10,609,028 (GRCm39) missense possibly damaging 0.91
R9685:Grm1 UTSW 10 10,564,775 (GRCm39) missense possibly damaging 0.91
R9777:Grm1 UTSW 10 10,573,826 (GRCm39) missense possibly damaging 0.92
X0002:Grm1 UTSW 10 10,812,257 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGTTCTAGCTAAACATAAGGGCAG -3'
(R):5'- GGTCTCAGCTTTGTAAGACTTCCCATC -3'

Sequencing Primer
(F):5'- GCTAAACATAAGGGCAGTCTTC -3'
(R):5'- ACTTGTTCAAAGGGTACTACCTGG -3'
Posted On 2014-04-24