Incidental Mutation 'R1763:Grm1'
ID 193207
Institutional Source Beutler Lab
Gene Symbol Grm1
Ensembl Gene ENSMUSG00000019828
Gene Name glutamate receptor, metabotropic 1
Synonyms Grm1, Gprc1a, mGluR1, nmf373, rcw, 4930455H15Rik
MMRRC Submission 039795-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.424) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10686059-11082356 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11079866 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 225 (T225S)
Ref Sequence ENSEMBL: ENSMUSP00000101190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]
AlphaFold P97772
Predicted Effect possibly damaging
Transcript: ENSMUST00000044306
AA Change: T225S

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: T225S

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 possibly damaging
Transcript: ENSMUST00000105560
AA Change: T225S

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: T225S

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 possibly damaging
Transcript: ENSMUST00000105561
AA Change: T225S

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: T225S

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 0.0635 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 122,110,681 (GRCm38) V794M probably benign Het
Abca4 A T 3: 122,163,830 (GRCm38) T772S probably damaging Het
Acox3 G A 5: 35,608,339 (GRCm38) probably null Het
Adamts17 A G 7: 67,147,715 (GRCm38) N1060S probably damaging Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Als2 T C 1: 59,174,991 (GRCm38) Y1346C probably benign Het
Apol10b A T 15: 77,585,015 (GRCm38) F321I probably benign Het
Atp5f1 A G 3: 105,951,589 (GRCm38) probably null Het
Bloc1s5 A G 13: 38,619,084 (GRCm38) probably benign Het
Btbd9 T C 17: 30,334,297 (GRCm38) N397S possibly damaging Het
Cacna1d A G 14: 30,099,196 (GRCm38) V1121A probably benign Het
Cad G A 5: 31,060,951 (GRCm38) V460I probably damaging Het
Caprin2 A T 6: 148,843,121 (GRCm38) D935E probably damaging Het
Ccdc150 A T 1: 54,354,636 (GRCm38) K686N probably benign Het
Ccnt2 T C 1: 127,799,406 (GRCm38) F186L possibly damaging Het
Cd5l G A 3: 87,367,880 (GRCm38) probably null Het
Chrna7 A G 7: 63,099,252 (GRCm38) V494A probably benign Het
Clec2i T G 6: 128,895,425 (GRCm38) Y198* probably null Het
Col22a1 A G 15: 72,007,176 (GRCm38) V44A probably damaging Het
Cspg4 T A 9: 56,886,979 (GRCm38) I666N probably damaging Het
Cyp3a16 A T 5: 145,465,031 (GRCm38) probably null Het
Dlk1 G T 12: 109,458,119 (GRCm38) C102F probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 55,080,176 (GRCm38) probably benign Het
Dscc1 T A 15: 55,084,139 (GRCm38) H215L probably damaging Het
Dus1l C G 11: 120,795,671 (GRCm38) G15R probably benign Het
Eps8l1 G T 7: 4,471,823 (GRCm38) V268L probably benign Het
F2 A C 2: 91,634,906 (GRCm38) C104W probably damaging Het
F5 C A 1: 164,192,535 (GRCm38) Q860K probably benign Het
Fmn2 T C 1: 174,502,266 (GRCm38) L74P unknown Het
Frmd6 G A 12: 70,893,622 (GRCm38) R347Q possibly damaging Het
Gabbr1 T G 17: 37,054,767 (GRCm38) S158A probably damaging Het
Galc T C 12: 98,234,266 (GRCm38) N295S probably damaging Het
Gm436 A G 4: 144,669,959 (GRCm38) V401A probably benign Het
Gm6408 A T 5: 146,482,322 (GRCm38) N49I probably damaging Het
Grm8 C T 6: 27,285,867 (GRCm38) V849I possibly damaging Het
Hmcn2 A G 2: 31,314,590 (GRCm38) D59G probably damaging Het
Iars G A 13: 49,723,077 (GRCm38) probably null Het
Ifi27 C T 12: 103,437,682 (GRCm38) A127V possibly damaging Het
Ikbip A G 10: 91,096,481 (GRCm38) N329S probably damaging Het
Ikbke T C 1: 131,265,877 (GRCm38) T479A probably benign Het
Krt12 T A 11: 99,416,060 (GRCm38) N472I probably damaging Het
Lmnb2 A T 10: 80,907,191 (GRCm38) L193Q probably damaging Het
Lrriq4 T C 3: 30,650,252 (GRCm38) V128A probably benign Het
Map4k4 C A 1: 40,000,757 (GRCm38) probably benign Het
Mtmr7 T C 8: 40,551,811 (GRCm38) T575A probably benign Het
Myh13 G A 11: 67,334,576 (GRCm38) A256T probably benign Het
Napepld A G 5: 21,683,410 (GRCm38) Y14H probably benign Het
Npr1 T C 3: 90,459,337 (GRCm38) T552A probably damaging Het
Nudt15 A G 14: 73,521,647 (GRCm38) F127S probably benign Het
Nwd2 T A 5: 63,808,271 (GRCm38) S1733T probably benign Het
Olfr1189 A G 2: 88,592,436 (GRCm38) I211V probably benign Het
Olfr1257 G A 2: 89,881,129 (GRCm38) G101E probably damaging Het
Olfr1348 T G 7: 6,501,441 (GRCm38) I262L probably benign Het
Olfr907 A G 9: 38,499,038 (GRCm38) Y123C probably damaging Het
Olfr96 T C 17: 37,225,430 (GRCm38) F102L probably benign Het
Paqr7 A T 4: 134,507,098 (GRCm38) I89F probably benign Het
Pidd1 C A 7: 141,439,630 (GRCm38) V706L probably benign Het
Polr3c A T 3: 96,713,595 (GRCm38) I469N probably damaging Het
Ppip5k1 A G 2: 121,348,547 (GRCm38) Y233H probably damaging Het
Psmc3 A G 2: 91,055,995 (GRCm38) T166A possibly damaging Het
Ptchd3 A T 11: 121,842,542 (GRCm38) I753L probably benign Het
Rad21 T C 15: 51,978,170 (GRCm38) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm38) E479G possibly damaging Het
Rfwd3 C T 8: 111,288,242 (GRCm38) R326Q probably damaging Het
Rgs20 C T 1: 4,910,640 (GRCm38) R154Q probably damaging Het
Sbf1 T C 15: 89,294,425 (GRCm38) D1449G probably damaging Het
Sema4g C T 19: 45,001,605 (GRCm38) R708* probably null Het
Sept9 T C 11: 117,290,428 (GRCm38) I18T probably benign Het
Serpinb6b A G 13: 32,978,058 (GRCm38) E280G probably damaging Het
Slamf6 T C 1: 171,942,587 (GRCm38) probably benign Het
Slc6a21 G A 7: 45,287,734 (GRCm38) W554* probably null Het
Slco1a4 A C 6: 141,812,731 (GRCm38) I518R probably benign Het
Stab1 T A 14: 31,168,416 (GRCm38) Q26L probably benign Het
Stox1 A G 10: 62,667,965 (GRCm38) F104L probably damaging Het
Suco T C 1: 161,834,949 (GRCm38) K638E possibly damaging Het
Synpo T C 18: 60,602,784 (GRCm38) K458E probably damaging Het
Szt2 A T 4: 118,372,368 (GRCm38) W2820R unknown Het
Tmtc1 C A 6: 148,294,618 (GRCm38) G499W probably damaging Het
Tonsl A C 15: 76,638,066 (GRCm38) S242R probably damaging Het
Trpc4 G T 3: 54,194,822 (GRCm38) S47I possibly damaging Het
Zfp106 G A 2: 120,520,428 (GRCm38) R1581C probably benign Het
Zfp27 A G 7: 29,895,376 (GRCm38) L388P possibly damaging Het
Other mutations in Grm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Grm1 APN 10 10,720,039 (GRCm38) missense probably benign 0.01
IGL02078:Grm1 APN 10 10,689,610 (GRCm38) missense probably benign 0.02
IGL02156:Grm1 APN 10 10,719,976 (GRCm38) missense probably damaging 0.99
IGL02476:Grm1 APN 10 10,689,453 (GRCm38) missense probably benign 0.29
IGL02498:Grm1 APN 10 10,719,979 (GRCm38) missense probably damaging 1.00
IGL02621:Grm1 APN 10 10,689,011 (GRCm38) nonsense probably null
IGL03192:Grm1 APN 10 11,079,916 (GRCm38) missense possibly damaging 0.66
IGL03342:Grm1 APN 10 11,079,971 (GRCm38) missense probably benign 0.08
dewey UTSW 10 10,719,595 (GRCm38) missense probably damaging 1.00
Dingus UTSW 10 10,719,967 (GRCm38) missense probably benign 0.06
donald UTSW 10 10,741,508 (GRCm38) nonsense probably null
jim UTSW 10 10,719,805 (GRCm38) missense probably damaging 1.00
lightness UTSW 10 11,079,958 (GRCm38) missense probably damaging 1.00
IGL02796:Grm1 UTSW 10 10,689,667 (GRCm38) missense probably benign
R0294:Grm1 UTSW 10 11,080,399 (GRCm38) missense probably damaging 1.00
R0525:Grm1 UTSW 10 10,719,209 (GRCm38) splice site probably benign
R0554:Grm1 UTSW 10 10,719,923 (GRCm38) missense probably benign 0.01
R1184:Grm1 UTSW 10 10,720,034 (GRCm38) missense probably benign 0.40
R1319:Grm1 UTSW 10 10,689,398 (GRCm38) missense probably benign 0.05
R1403:Grm1 UTSW 10 11,080,135 (GRCm38) missense probably benign 0.00
R1403:Grm1 UTSW 10 11,080,135 (GRCm38) missense probably benign 0.00
R1467:Grm1 UTSW 10 10,719,958 (GRCm38) missense probably damaging 1.00
R1467:Grm1 UTSW 10 10,719,958 (GRCm38) missense probably damaging 1.00
R1494:Grm1 UTSW 10 10,689,706 (GRCm38) missense probably benign 0.04
R1589:Grm1 UTSW 10 10,719,967 (GRCm38) missense probably benign 0.06
R1615:Grm1 UTSW 10 10,741,508 (GRCm38) nonsense probably null
R1720:Grm1 UTSW 10 10,746,794 (GRCm38) splice site probably null
R1738:Grm1 UTSW 10 10,936,419 (GRCm38) missense probably damaging 1.00
R1774:Grm1 UTSW 10 11,079,866 (GRCm38) missense possibly damaging 0.47
R2041:Grm1 UTSW 10 10,746,603 (GRCm38) missense probably damaging 0.98
R2092:Grm1 UTSW 10 10,689,225 (GRCm38) missense probably benign 0.00
R2198:Grm1 UTSW 10 10,782,776 (GRCm38) missense probably damaging 1.00
R2297:Grm1 UTSW 10 11,080,414 (GRCm38) missense probably benign 0.03
R2333:Grm1 UTSW 10 10,719,619 (GRCm38) missense probably benign 0.31
R2333:Grm1 UTSW 10 10,719,346 (GRCm38) missense probably damaging 0.98
R2914:Grm1 UTSW 10 11,079,857 (GRCm38) missense probably benign 0.07
R3105:Grm1 UTSW 10 11,079,857 (GRCm38) missense probably benign 0.07
R3106:Grm1 UTSW 10 11,079,857 (GRCm38) missense probably benign 0.07
R3705:Grm1 UTSW 10 10,782,729 (GRCm38) missense possibly damaging 0.95
R3931:Grm1 UTSW 10 10,719,878 (GRCm38) missense probably benign 0.44
R4810:Grm1 UTSW 10 10,782,694 (GRCm38) missense probably damaging 1.00
R4892:Grm1 UTSW 10 10,719,587 (GRCm38) missense possibly damaging 0.81
R4938:Grm1 UTSW 10 10,936,513 (GRCm38) missense probably damaging 1.00
R4947:Grm1 UTSW 10 10,782,633 (GRCm38) missense probably damaging 1.00
R4966:Grm1 UTSW 10 10,719,665 (GRCm38) nonsense probably null
R5152:Grm1 UTSW 10 11,079,875 (GRCm38) missense probably benign 0.13
R5283:Grm1 UTSW 10 10,733,192 (GRCm38) missense possibly damaging 0.70
R5317:Grm1 UTSW 10 10,746,699 (GRCm38) missense possibly damaging 0.77
R5374:Grm1 UTSW 10 11,080,442 (GRCm38) missense probably benign 0.14
R5428:Grm1 UTSW 10 10,719,563 (GRCm38) missense probably damaging 1.00
R5604:Grm1 UTSW 10 10,746,735 (GRCm38) missense probably damaging 1.00
R5894:Grm1 UTSW 10 11,080,255 (GRCm38) missense probably damaging 1.00
R5896:Grm1 UTSW 10 11,080,550 (GRCm38) utr 5 prime probably benign
R5899:Grm1 UTSW 10 10,689,348 (GRCm38) missense probably benign
R6032:Grm1 UTSW 10 10,719,805 (GRCm38) missense probably damaging 1.00
R6032:Grm1 UTSW 10 10,719,805 (GRCm38) missense probably damaging 1.00
R6139:Grm1 UTSW 10 10,746,331 (GRCm38) intron probably benign
R6144:Grm1 UTSW 10 11,079,896 (GRCm38) missense probably benign 0.08
R6208:Grm1 UTSW 10 10,719,946 (GRCm38) missense probably damaging 1.00
R6976:Grm1 UTSW 10 10,689,180 (GRCm38) missense probably benign 0.00
R7027:Grm1 UTSW 10 10,719,595 (GRCm38) missense probably damaging 1.00
R7079:Grm1 UTSW 10 11,079,958 (GRCm38) missense probably damaging 1.00
R7286:Grm1 UTSW 10 10,689,696 (GRCm38) missense probably benign 0.19
R7352:Grm1 UTSW 10 10,719,493 (GRCm38) missense probably damaging 1.00
R7484:Grm1 UTSW 10 10,746,659 (GRCm38) missense probably benign 0.06
R7838:Grm1 UTSW 10 11,080,352 (GRCm38) missense probably benign 0.02
R8108:Grm1 UTSW 10 10,720,132 (GRCm38) missense probably benign 0.01
R8379:Grm1 UTSW 10 10,689,135 (GRCm38) missense possibly damaging 0.86
R8498:Grm1 UTSW 10 11,079,861 (GRCm38) nonsense probably null
R8712:Grm1 UTSW 10 10,689,552 (GRCm38) missense probably benign 0.34
R8856:Grm1 UTSW 10 10,719,348 (GRCm38) missense probably damaging 1.00
R8904:Grm1 UTSW 10 10,719,537 (GRCm38) missense probably damaging 1.00
R9043:Grm1 UTSW 10 10,689,312 (GRCm38) nonsense probably null
R9477:Grm1 UTSW 10 10,719,661 (GRCm38) missense probably benign 0.15
R9674:Grm1 UTSW 10 10,733,284 (GRCm38) missense possibly damaging 0.91
R9685:Grm1 UTSW 10 10,689,031 (GRCm38) missense possibly damaging 0.91
R9777:Grm1 UTSW 10 10,698,082 (GRCm38) missense possibly damaging 0.92
X0002:Grm1 UTSW 10 10,936,513 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAATGCAGCACCTGAGCCTTAGAC -3'
(R):5'- AGCTGTTCGACATCCCACAAATCGC -3'

Sequencing Primer
(F):5'- CAACACCCTGGAATGTGGTTTTAC -3'
(R):5'- AATCGCCTATTCTGCCACGAG -3'
Posted On 2014-05-23