Incidental Mutation 'R9106:Grm5'
ID 692018
Institutional Source Beutler Lab
Gene Symbol Grm5
Ensembl Gene ENSMUSG00000049583
Gene Name glutamate receptor, metabotropic 5
Synonyms mGluR5, 6430542K11Rik, Gprc1e, Glu5R
MMRRC Submission 068970-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R9106 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 87233376-87784115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87723747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 679 (I679T)
Ref Sequence ENSEMBL: ENSMUSP00000114927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107263] [ENSMUST00000125009] [ENSMUST00000155358]
AlphaFold Q3UVX5
Predicted Effect probably damaging
Transcript: ENSMUST00000107263
AA Change: I679T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: I679T

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:ANF_receptor 67 471 5.4e-97 PFAM
Pfam:Peripla_BP_6 130 332 2.5e-14 PFAM
Pfam:NCD3G 506 557 4.5e-20 PFAM
Pfam:7tm_3 588 824 7.4e-75 PFAM
low complexity region 851 860 N/A INTRINSIC
low complexity region 929 954 N/A INTRINSIC
low complexity region 968 987 N/A INTRINSIC
low complexity region 1046 1056 N/A INTRINSIC
GluR_Homer-bdg 1121 1171 1.42e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125009
AA Change: I679T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: I679T

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:ANF_receptor 67 471 5.7e-101 PFAM
Pfam:Peripla_BP_6 129 327 5.4e-12 PFAM
Pfam:NCD3G 506 557 3.2e-16 PFAM
Pfam:7tm_3 590 823 3.5e-56 PFAM
low complexity region 851 860 N/A INTRINSIC
low complexity region 929 954 N/A INTRINSIC
low complexity region 968 987 N/A INTRINSIC
low complexity region 1046 1056 N/A INTRINSIC
GluR_Homer-bdg 1121 1171 1.42e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155358
AA Change: I679T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: I679T

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:ANF_receptor 67 471 4.1e-101 PFAM
Pfam:Peripla_BP_6 129 327 2.5e-12 PFAM
Pfam:NCD3G 506 557 9.4e-17 PFAM
Pfam:7tm_3 590 823 1.3e-56 PFAM
low complexity region 851 860 N/A INTRINSIC
low complexity region 961 986 N/A INTRINSIC
low complexity region 1000 1019 N/A INTRINSIC
low complexity region 1078 1088 N/A INTRINSIC
GluR_Homer-bdg 1153 1203 1.42e-24 SMART
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice have reduced corticostriatal long term potentiation, do not exhibit hyperactivity after cocaine consumption and do not self-administer cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C A 1: 179,614,601 (GRCm39) K394N probably benign Het
Banp A T 8: 122,705,372 (GRCm39) T81S possibly damaging Het
Btn2a2 T C 13: 23,662,465 (GRCm39) E495G probably benign Het
Cfap69 T C 5: 5,690,190 (GRCm39) I158M possibly damaging Het
Cgnl1 C A 9: 71,628,873 (GRCm39) probably benign Het
Clip1 T A 5: 123,753,223 (GRCm39) Q186L probably damaging Het
Clspn G A 4: 126,471,243 (GRCm39) probably benign Het
Cnst A G 1: 179,432,162 (GRCm39) E224G probably damaging Het
Ctdsp1 T C 1: 74,433,884 (GRCm39) L155P probably damaging Het
D5Ertd579e C T 5: 36,773,682 (GRCm39) A238T probably benign Het
Dnah6 T C 6: 73,121,752 (GRCm39) Y1410C probably damaging Het
Fam186a AGCCGCTGCCGCTGCCGCTGCCGC AGCCGCTGCCGCTGCCGC 15: 99,844,107 (GRCm39) probably benign Het
Farp2 T C 1: 93,488,910 (GRCm39) probably null Het
Galnt7 T G 8: 57,985,729 (GRCm39) D547A probably damaging Het
Gm1527 C A 3: 28,956,440 (GRCm39) D135E probably damaging Het
Hectd4 C A 5: 121,467,619 (GRCm39) R2523S possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Htr1f A T 16: 64,746,637 (GRCm39) S218R probably damaging Het
Lrit1 G A 14: 36,776,891 (GRCm39) A4T unknown Het
Ly6f G T 15: 75,141,706 (GRCm39) D50Y probably damaging Het
Mafg GGTTCTTCAGTGT GGT 11: 120,520,415 (GRCm39) probably null Het
Map2 T A 1: 66,454,522 (GRCm39) Y1137* probably null Het
Map4k3 C A 17: 81,035,257 (GRCm39) R21L possibly damaging Het
Mapk10 A T 5: 103,186,442 (GRCm39) V90D probably damaging Het
Mapkapk3 T A 9: 107,136,067 (GRCm39) E219V probably damaging Het
Mideas T C 12: 84,199,327 (GRCm39) Y1040C probably damaging Het
Mos T G 4: 3,871,457 (GRCm39) I120L probably benign Het
Mrgprb4 A G 7: 47,848,679 (GRCm39) V83A probably benign Het
Mrnip A G 11: 50,065,768 (GRCm39) Q19R probably damaging Het
Myrip T C 9: 120,261,544 (GRCm39) S386P probably benign Het
Mzt2 A G 16: 15,666,568 (GRCm39) W141R probably benign Het
Ncam1 A G 9: 49,428,856 (GRCm39) Y710H probably damaging Het
Nlrp9c G T 7: 26,081,837 (GRCm39) L630I probably benign Het
Odad2 A T 18: 7,294,527 (GRCm39) S29T probably benign Het
Oplah C A 15: 76,189,876 (GRCm39) G150C probably benign Het
Or4c11b A G 2: 88,625,016 (GRCm39) T97A probably benign Het
Or51q1 A T 7: 103,628,581 (GRCm39) M61L probably damaging Het
Or52a20 G A 7: 103,366,737 (GRCm39) C312Y probably benign Het
Or6k2 A G 1: 173,986,369 (GRCm39) Q10R probably benign Het
Patl1 A G 19: 11,908,973 (GRCm39) K460R probably damaging Het
Pdgfrb A T 18: 61,179,100 (GRCm39) probably null Het
Phldb2 T C 16: 45,680,757 (GRCm39) I17V probably benign Het
Ppp3r1 A G 11: 17,144,789 (GRCm39) D134G probably damaging Het
Ppp4r4 C T 12: 103,570,315 (GRCm39) T763I probably benign Het
Prmt9 A G 8: 78,276,358 (GRCm39) D61G probably benign Het
Ptk2 T C 15: 73,131,457 (GRCm39) M589V possibly damaging Het
Rabl6 A G 2: 25,486,446 (GRCm39) W153R probably benign Het
Rb1cc1 A G 1: 6,319,109 (GRCm39) I843V Het
Resf1 T C 6: 149,230,368 (GRCm39) V1138A possibly damaging Het
Rnf19b A G 4: 128,977,940 (GRCm39) E719G Het
Sart3 T C 5: 113,892,410 (GRCm39) D363G possibly damaging Het
Sgo2a C A 1: 58,037,283 (GRCm39) D9E possibly damaging Het
Slc27a5 A G 7: 12,725,097 (GRCm39) V450A probably benign Het
Slc8b1 T A 5: 120,668,416 (GRCm39) Y483N probably damaging Het
Slco1b2 A G 6: 141,617,974 (GRCm39) T475A probably damaging Het
Slfn3 T C 11: 83,103,458 (GRCm39) F110L probably benign Het
Spata31e5 T C 1: 28,815,975 (GRCm39) I686V probably benign Het
Ssr2 T A 3: 88,495,269 (GRCm39) Y175N probably damaging Het
Tagap A T 17: 8,150,280 (GRCm39) N222Y probably damaging Het
Tecta C T 9: 42,278,479 (GRCm39) V1010M probably benign Het
Trim36 A T 18: 46,300,664 (GRCm39) I669N possibly damaging Het
Ubp1 A G 9: 113,799,319 (GRCm39) T425A probably benign Het
Usp47 T C 7: 111,681,713 (GRCm39) I508T probably damaging Het
Vit G A 17: 78,934,278 (GRCm39) D627N probably damaging Het
Vmn2r59 A T 7: 41,695,884 (GRCm39) I176N probably benign Het
Other mutations in Grm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Grm5 APN 7 87,779,989 (GRCm39) missense probably benign 0.00
IGL00970:Grm5 APN 7 87,453,104 (GRCm39) missense probably damaging 0.97
IGL01286:Grm5 APN 7 87,251,773 (GRCm39) missense probably benign 0.00
IGL01307:Grm5 APN 7 87,724,220 (GRCm39) missense probably damaging 1.00
IGL01603:Grm5 APN 7 87,252,386 (GRCm39) missense probably damaging 1.00
IGL01646:Grm5 APN 7 87,689,267 (GRCm39) missense probably damaging 1.00
IGL01705:Grm5 APN 7 87,779,254 (GRCm39) missense possibly damaging 0.59
IGL02184:Grm5 APN 7 87,675,650 (GRCm39) missense probably damaging 0.98
IGL02504:Grm5 APN 7 87,779,980 (GRCm39) missense probably benign
IGL02689:Grm5 APN 7 87,251,918 (GRCm39) missense probably damaging 1.00
IGL02725:Grm5 APN 7 87,723,873 (GRCm39) missense probably damaging 1.00
IGL02851:Grm5 APN 7 87,723,918 (GRCm39) missense probably damaging 0.98
IGL03106:Grm5 APN 7 87,685,278 (GRCm39) missense probably damaging 1.00
IGL03257:Grm5 APN 7 87,252,106 (GRCm39) missense possibly damaging 0.69
IGL03291:Grm5 APN 7 87,780,004 (GRCm39) missense probably damaging 1.00
BB004:Grm5 UTSW 7 87,685,382 (GRCm39) missense probably benign 0.16
BB014:Grm5 UTSW 7 87,685,382 (GRCm39) missense probably benign 0.16
R0078:Grm5 UTSW 7 87,724,185 (GRCm39) missense probably damaging 1.00
R0314:Grm5 UTSW 7 87,252,163 (GRCm39) missense probably damaging 0.97
R0318:Grm5 UTSW 7 87,252,175 (GRCm39) missense probably damaging 0.99
R0364:Grm5 UTSW 7 87,723,594 (GRCm39) missense probably damaging 1.00
R0380:Grm5 UTSW 7 87,723,584 (GRCm39) missense possibly damaging 0.92
R0454:Grm5 UTSW 7 87,779,997 (GRCm39) missense probably damaging 1.00
R0494:Grm5 UTSW 7 87,779,989 (GRCm39) missense probably benign 0.00
R0562:Grm5 UTSW 7 87,252,227 (GRCm39) missense probably damaging 1.00
R1695:Grm5 UTSW 7 87,685,311 (GRCm39) missense possibly damaging 0.47
R2012:Grm5 UTSW 7 87,724,080 (GRCm39) missense probably damaging 1.00
R2384:Grm5 UTSW 7 87,251,936 (GRCm39) missense probably damaging 1.00
R2510:Grm5 UTSW 7 87,685,299 (GRCm39) missense probably benign 0.21
R2870:Grm5 UTSW 7 87,251,930 (GRCm39) missense possibly damaging 0.85
R2870:Grm5 UTSW 7 87,251,930 (GRCm39) missense possibly damaging 0.85
R3861:Grm5 UTSW 7 87,779,202 (GRCm39) missense possibly damaging 0.94
R4451:Grm5 UTSW 7 87,724,340 (GRCm39) critical splice donor site probably null
R4626:Grm5 UTSW 7 87,779,361 (GRCm39) missense probably damaging 1.00
R4728:Grm5 UTSW 7 87,624,496 (GRCm39) missense probably damaging 1.00
R4914:Grm5 UTSW 7 87,779,337 (GRCm39) missense probably benign 0.00
R5122:Grm5 UTSW 7 87,724,028 (GRCm39) missense probably damaging 1.00
R5352:Grm5 UTSW 7 87,724,058 (GRCm39) missense probably damaging 1.00
R5361:Grm5 UTSW 7 87,723,704 (GRCm39) missense probably damaging 1.00
R5684:Grm5 UTSW 7 87,779,853 (GRCm39) missense probably benign
R5715:Grm5 UTSW 7 87,779,464 (GRCm39) missense probably benign 0.05
R5759:Grm5 UTSW 7 87,675,808 (GRCm39) missense probably damaging 0.96
R5844:Grm5 UTSW 7 87,453,232 (GRCm39) missense possibly damaging 0.88
R5889:Grm5 UTSW 7 87,252,281 (GRCm39) missense probably damaging 1.00
R6048:Grm5 UTSW 7 87,675,758 (GRCm39) missense probably damaging 1.00
R6145:Grm5 UTSW 7 87,675,809 (GRCm39) missense probably damaging 1.00
R6232:Grm5 UTSW 7 87,251,638 (GRCm39) unclassified probably benign
R6972:Grm5 UTSW 7 87,252,131 (GRCm39) missense probably benign 0.02
R7072:Grm5 UTSW 7 87,723,512 (GRCm39) missense probably damaging 1.00
R7258:Grm5 UTSW 7 87,723,914 (GRCm39) missense probably damaging 0.96
R7316:Grm5 UTSW 7 87,624,473 (GRCm39) missense probably benign
R7434:Grm5 UTSW 7 87,779,682 (GRCm39) missense probably benign 0.10
R7521:Grm5 UTSW 7 87,723,480 (GRCm39) missense possibly damaging 0.86
R7616:Grm5 UTSW 7 87,765,409 (GRCm39) missense probably benign
R7631:Grm5 UTSW 7 87,624,513 (GRCm39) missense probably damaging 1.00
R7655:Grm5 UTSW 7 87,779,459 (GRCm39) missense probably benign 0.00
R7656:Grm5 UTSW 7 87,779,459 (GRCm39) missense probably benign 0.00
R7739:Grm5 UTSW 7 87,779,266 (GRCm39) missense possibly damaging 0.46
R7897:Grm5 UTSW 7 87,780,069 (GRCm39) missense probably benign 0.14
R7927:Grm5 UTSW 7 87,685,382 (GRCm39) missense probably benign 0.16
R7967:Grm5 UTSW 7 87,624,569 (GRCm39) missense probably damaging 0.99
R8260:Grm5 UTSW 7 87,724,340 (GRCm39) critical splice donor site probably null
R8345:Grm5 UTSW 7 87,723,746 (GRCm39) missense probably damaging 1.00
R8460:Grm5 UTSW 7 87,252,249 (GRCm39) missense probably damaging 1.00
R8473:Grm5 UTSW 7 87,252,278 (GRCm39) missense probably damaging 0.97
R8531:Grm5 UTSW 7 87,779,724 (GRCm39) missense probably benign 0.05
R8671:Grm5 UTSW 7 87,765,498 (GRCm39) critical splice donor site probably null
R8805:Grm5 UTSW 7 87,453,176 (GRCm39) missense probably damaging 1.00
R9036:Grm5 UTSW 7 87,685,397 (GRCm39) missense possibly damaging 0.94
R9136:Grm5 UTSW 7 87,689,254 (GRCm39) missense possibly damaging 0.95
R9189:Grm5 UTSW 7 87,724,024 (GRCm39) missense probably damaging 1.00
R9196:Grm5 UTSW 7 87,723,518 (GRCm39) missense probably damaging 1.00
R9232:Grm5 UTSW 7 87,723,591 (GRCm39) missense probably damaging 1.00
R9234:Grm5 UTSW 7 87,723,440 (GRCm39) missense probably damaging 1.00
R9384:Grm5 UTSW 7 87,723,518 (GRCm39) missense probably damaging 1.00
R9424:Grm5 UTSW 7 87,765,484 (GRCm39) missense probably benign 0.00
R9531:Grm5 UTSW 7 87,780,075 (GRCm39) makesense probably null
R9631:Grm5 UTSW 7 87,624,560 (GRCm39) missense probably damaging 0.98
R9691:Grm5 UTSW 7 87,723,903 (GRCm39) missense probably damaging 1.00
Z1176:Grm5 UTSW 7 87,251,923 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCAGTGGTCAAGTCTTCCAG -3'
(R):5'- AGAGGAGTGACAACCCCTAG -3'

Sequencing Primer
(F):5'- GCAGGGAACTCTGCTACATTATC -3'
(R):5'- CCCTAGGTTGGTGGTGTTACAAATC -3'
Posted On 2021-12-30