Incidental Mutation 'R7072:Grm5'
ID 548960
Institutional Source Beutler Lab
Gene Symbol Grm5
Ensembl Gene ENSMUSG00000049583
Gene Name glutamate receptor, metabotropic 5
Synonyms mGluR5, 6430542K11Rik, Gprc1e, Glu5R
MMRRC Submission 045168-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R7072 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 87233376-87784115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87723512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 601 (I601F)
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: I601F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: I601F

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: I601F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: I601F

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: I601F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: I601F

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 0.1234 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,967,592 (GRCm39) L2214Q probably damaging Het
Acbd3 T C 1: 180,553,934 (GRCm39) F90L probably benign Het
Ahnak2 T A 12: 112,751,786 (GRCm39) Q23L Het
Anpep A T 7: 79,485,127 (GRCm39) L620I possibly damaging Het
Bpi T C 2: 158,113,998 (GRCm39) S299P probably damaging Het
Bpifa2 A G 2: 153,853,293 (GRCm39) D132G probably damaging Het
Brd7 T A 8: 89,073,615 (GRCm39) E258D probably benign Het
Btc T C 5: 91,550,796 (GRCm39) probably benign Het
Cacna1c A G 6: 118,573,067 (GRCm39) V2039A Het
Calm4 T A 13: 3,888,275 (GRCm39) V127E probably benign Het
Casp8ap2 T A 4: 32,644,766 (GRCm39) S1280T probably damaging Het
Cc2d2b T C 19: 40,748,803 (GRCm39) V80A unknown Het
Ccdc33 A G 9: 58,019,267 (GRCm39) *279R probably null Het
Cercam T A 2: 29,771,936 (GRCm39) H585Q probably benign Het
Cnnm1 A G 19: 43,429,296 (GRCm39) D138G probably benign Het
Cox4i2 T C 2: 152,602,573 (GRCm39) F89S probably damaging Het
Crb1 G A 1: 139,165,013 (GRCm39) T1098I probably damaging Het
Csnk1e C T 15: 79,322,967 (GRCm39) probably null Het
Ctsj C A 13: 61,150,897 (GRCm39) E187* probably null Het
Dagla A T 19: 10,233,659 (GRCm39) probably null Het
Dnah7a G A 1: 53,458,912 (GRCm39) T3742I probably benign Het
Dnajc6 A C 4: 101,472,812 (GRCm39) H381P probably damaging Het
Dyrk3 A T 1: 131,057,465 (GRCm39) L236Q probably damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Frmd5 A T 2: 121,388,351 (GRCm39) L241Q probably damaging Het
Gcc2 A G 10: 58,106,749 (GRCm39) T662A probably benign Het
Gins1 C T 2: 150,751,671 (GRCm39) probably null Het
Gli3 T A 13: 15,900,280 (GRCm39) N1222K possibly damaging Het
Gm4302 G T 10: 100,177,521 (GRCm39) Q268H unknown Het
Grin2d A T 7: 45,506,922 (GRCm39) W518R probably damaging Het
Gtpbp10 A T 5: 5,596,365 (GRCm39) N193K probably benign Het
Igdcc4 T G 9: 65,038,013 (GRCm39) V798G probably damaging Het
Igkv8-19 A T 6: 70,318,396 (GRCm39) F13I probably benign Het
Kctd11 T A 11: 69,770,621 (GRCm39) N139I probably benign Het
Lmo7 G A 14: 102,136,136 (GRCm39) probably null Het
Lrrk2 A T 15: 91,686,123 (GRCm39) M2155L probably benign Het
Ly6g6g C T 15: 74,644,119 (GRCm39) V66M Het
Mettl24 A C 10: 40,559,509 (GRCm39) H53P probably benign Het
Mier2 A G 10: 79,376,133 (GRCm39) M264T unknown Het
Mplkip T C 13: 17,870,122 (GRCm39) I18T unknown Het
Mtmr2 T C 9: 13,699,916 (GRCm39) V101A probably benign Het
Nbeal2 G T 9: 110,455,119 (GRCm39) T2593K probably benign Het
Neu3 A T 7: 99,463,404 (GRCm39) C106* probably null Het
Nutm1 T C 2: 112,082,192 (GRCm39) T295A probably benign Het
Or2h2b-ps1 A G 17: 37,481,269 (GRCm39) I90T probably benign Het
Pcdhga7 G T 18: 37,850,329 (GRCm39) V779L probably benign Het
Pde10a A G 17: 9,161,858 (GRCm39) E231G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plcg2 T A 8: 118,316,574 (GRCm39) probably null Het
Pofut2 T C 10: 77,095,263 (GRCm39) L36P probably benign Het
Pou6f2 T C 13: 18,299,754 (GRCm39) N635S Het
Pramel14 A C 4: 143,720,698 (GRCm39) I81R probably damaging Het
Ptpra T C 2: 130,395,350 (GRCm39) Y818H probably damaging Het
Rad18 T C 6: 112,658,401 (GRCm39) E168G probably benign Het
Rev1 C A 1: 38,106,626 (GRCm39) E634* probably null Het
Sec24d A G 3: 123,124,000 (GRCm39) D403G probably damaging Het
Sema5a C A 15: 32,575,105 (GRCm39) H404Q possibly damaging Het
Shank1 A G 7: 43,994,370 (GRCm39) S844G unknown Het
Slc32a1 T A 2: 158,453,416 (GRCm39) Y85* probably null Het
Slc39a4 T C 15: 76,497,458 (GRCm39) T485A probably damaging Het
Sp5 A C 2: 70,307,074 (GRCm39) Q253P probably benign Het
Sspo A T 6: 48,431,913 (GRCm39) D709V probably damaging Het
Sucnr1 A G 3: 59,993,604 (GRCm39) Y44C probably damaging Het
Taar8b A G 10: 23,967,876 (GRCm39) L106P possibly damaging Het
Tbc1d9 A G 8: 83,991,494 (GRCm39) D922G probably damaging Het
Tbx6 A T 7: 126,383,912 (GRCm39) D322V probably benign Het
Tex15 T A 8: 34,065,459 (GRCm39) S1630T possibly damaging Het
Ube2o G A 11: 116,432,327 (GRCm39) P880S probably benign Het
Uck1 C T 2: 32,148,178 (GRCm39) R182Q probably damaging Het
Utrn T A 10: 12,340,957 (GRCm39) H2840L probably damaging Het
Vps8 A G 16: 21,400,329 (GRCm39) T1266A probably benign Het
Wnk1 A T 6: 119,914,822 (GRCm39) I1909N unknown Het
Zfp352 C T 4: 90,112,661 (GRCm39) T267I probably benign Het
Zfp773 A T 7: 7,135,874 (GRCm39) C241S probably benign Het
Zfp934 T C 13: 62,668,339 (GRCm39) D8G probably damaging 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
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
R9106:Grm5 UTSW 7 87,723,747 (GRCm39) missense probably damaging 1.00
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'- GGGCAGCTCCTATCAAACAG -3'
(R):5'- CTTCGTTACAAGGGCTGAGTAG -3'

Sequencing Primer
(F):5'- CTGAAATGATCAAAAACAGCTGCTTG -3'
(R):5'- GCTCATGGCTGGAGAGAGACC -3'
Posted On 2019-05-15