Incidental Mutation 'R5374:Grm1'
ID 428948
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 042950-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R5374 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10561803-10958100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10956186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 33 (S33P)
Ref Sequence ENSEMBL: ENSMUSP00000101190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]
AlphaFold P97772
Predicted Effect probably benign
Transcript: ENSMUST00000044306
AA Change: S33P

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: S33P

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 benign
Transcript: ENSMUST00000105560
AA Change: S33P

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: S33P

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 benign
Transcript: ENSMUST00000105561
AA Change: S33P

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: S33P

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: ENSMUST00000156826
Meta Mutation Damage Score 0.1024 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (81/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Astn2 A C 4: 65,315,242 (GRCm39) V1145G probably damaging Het
Babam2 C T 5: 32,164,574 (GRCm39) probably benign Het
Blvrb A G 7: 27,165,271 (GRCm39) H238R possibly damaging Het
Cacna1b C T 2: 24,596,228 (GRCm39) V488I probably damaging Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Clcn2 C A 16: 20,528,419 (GRCm39) G478W possibly damaging Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cox7c T C 13: 86,194,739 (GRCm39) Y19C probably benign Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dock5 A G 14: 68,043,205 (GRCm39) V864A possibly damaging Het
Dock7 A G 4: 98,877,275 (GRCm39) F1088L possibly damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Entpd2 C T 2: 25,289,738 (GRCm39) T380I probably damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Ginm1 A G 10: 7,655,078 (GRCm39) S55P probably damaging Het
Glt1d1 C A 5: 127,734,148 (GRCm39) probably null Het
Gm15433 T A 1: 84,941,833 (GRCm39) noncoding transcript Het
Gm8221 A G 15: 77,510,352 (GRCm39) noncoding transcript Het
Gramd1c A G 16: 43,803,604 (GRCm39) V603A probably benign Het
Gstp3 T C 19: 4,107,922 (GRCm39) N137S possibly damaging Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Nom1 C G 5: 29,646,377 (GRCm39) R555G probably damaging Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Olfr908 CACAACAACA CACAACA 9: 38,427,434 (GRCm39) probably benign Het
Or52e18 G T 7: 104,609,203 (GRCm39) H245Q probably damaging Het
Or5p52 T C 7: 107,502,698 (GRCm39) I258T possibly damaging Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rangap1 A T 15: 81,590,695 (GRCm39) S466T probably benign Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rhobtb3 T C 13: 76,027,014 (GRCm39) Y453C probably damaging Het
Rspry1 T C 8: 95,349,636 (GRCm39) V8A probably benign Het
Rspry1 C A 8: 95,380,892 (GRCm39) R399S probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Sap18b G A 8: 96,551,998 (GRCm39) A3T unknown Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Skint3 T A 4: 112,155,386 (GRCm39) D381E possibly damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Tcf20 A T 15: 82,736,158 (GRCm39) N1764K probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Ticrr T G 7: 79,340,690 (GRCm39) Y1031* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Trpm3 C T 19: 22,903,548 (GRCm39) R945* probably null Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Ush2a C T 1: 188,487,403 (GRCm39) T3057M probably benign Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly 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
R1615:Grm1 UTSW 10 10,617,252 (GRCm39) nonsense probably null
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
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'- GGGTCCGCATTAATCTTATCTAATG -3'
(R):5'- ACCAGCTGTGTTGGCCAAAG -3'

Sequencing Primer
(F):5'- TGTGTGGAACATGGCCTCCAC -3'
(R):5'- CGTCAGGGTGGTTCGCG -3'
Posted On 2016-09-06