Incidental Mutation 'R8345:Grm5'
ID 645166
Institutional Source Beutler Lab
Gene Symbol Grm5
Ensembl Gene ENSMUSG00000049583
Gene Name glutamate receptor, metabotropic 5
Synonyms mGluR5, 6430542K11Rik, Gprc1e, Glu5R
MMRRC Submission 067801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R8345 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 87233376-87784115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87723746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 679 (I679F)
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: I679F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: I679F

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: I679F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: I679F

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: I679F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: I679F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 123,508,284 (GRCm39) V260A probably benign Het
Adgrv1 T C 13: 81,251,505 (GRCm39) D6204G probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Aspm T G 1: 139,392,011 (GRCm39) Y787* probably null Het
Atp8b5 A C 4: 43,291,714 (GRCm39) D29A probably benign Het
Bdh2 A T 3: 135,001,013 (GRCm39) I128F probably damaging Het
Bmper T A 9: 23,136,126 (GRCm39) M69K probably benign Het
Ccdc7a C T 8: 129,525,245 (GRCm39) M1415I probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Cdc23 G A 18: 34,767,150 (GRCm39) T564I probably benign Het
Cemip T A 7: 83,591,373 (GRCm39) probably null Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Clec2m T A 6: 129,302,593 (GRCm39) N145Y probably damaging Het
Cpsf1 T A 15: 76,485,690 (GRCm39) T435S probably benign Het
Dennd5a T C 7: 109,504,477 (GRCm39) T879A possibly damaging Het
Diaph3 G A 14: 87,066,529 (GRCm39) Q955* probably null Het
Disp2 G A 2: 118,641,284 (GRCm39) V298M unknown Het
Dnah1 C A 14: 30,986,551 (GRCm39) D3671Y probably damaging Het
Dnmt3a T C 12: 3,885,234 (GRCm39) S13P unknown Het
Eci3 G A 13: 35,132,164 (GRCm39) T228I probably damaging Het
Ecm2 T C 13: 49,674,276 (GRCm39) L232P probably benign Het
Ednra G A 8: 78,415,813 (GRCm39) R145C probably damaging Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Fam8a1 T A 13: 46,827,054 (GRCm39) I275K probably damaging Het
Fat3 C A 9: 15,910,570 (GRCm39) V1811L probably benign Het
Fbn2 C T 18: 58,191,503 (GRCm39) C1540Y probably damaging Het
Fcgbpl1 G A 7: 27,854,785 (GRCm39) V1804M probably damaging Het
Ffar3 A G 7: 30,554,789 (GRCm39) L177P probably damaging Het
Fmnl1 A G 11: 103,077,440 (GRCm39) T267A possibly damaging Het
Fsip1 T C 2: 118,070,952 (GRCm39) E246G probably damaging Het
Gemin4 A G 11: 76,101,605 (GRCm39) L1052P probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Hapln1 A T 13: 89,732,902 (GRCm39) D21V probably benign Het
Jak2 T C 19: 29,262,270 (GRCm39) S364P probably damaging Het
Kansl3 A G 1: 36,387,897 (GRCm39) probably null Het
Kntc1 T C 5: 123,924,993 (GRCm39) L1102S probably benign Het
Mbd3l2 A G 9: 18,355,779 (GRCm39) I35V probably benign Het
Mdfic G T 6: 15,799,653 (GRCm39) C260F probably damaging Het
Mroh2b T C 15: 4,973,808 (GRCm39) S1109P probably benign Het
Myocd A T 11: 65,077,958 (GRCm39) C612* probably null Het
Or4b13 A T 2: 90,082,561 (GRCm39) M257K possibly damaging Het
Or4c102 A G 2: 88,422,435 (GRCm39) M96V probably benign Het
Or4f17-ps1 T A 2: 111,357,864 (GRCm39) C86* probably null Het
Or52h7 T A 7: 104,213,431 (GRCm39) M1K probably null Het
Or5w22 A T 2: 87,362,691 (GRCm39) T105S probably benign Het
Or8k21 A T 2: 86,145,451 (GRCm39) Y60N probably damaging Het
Pard3 C T 8: 128,050,549 (GRCm39) R204W probably damaging Het
Per1 T A 11: 68,998,382 (GRCm39) N1031K possibly damaging Het
Plekhh3 A G 11: 101,055,105 (GRCm39) S583P unknown Het
Pramel12 C T 4: 143,143,438 (GRCm39) T68I probably benign Het
Prex2 T A 1: 11,270,118 (GRCm39) C1268S possibly damaging Het
Prpf6 T C 2: 181,291,951 (GRCm39) I756T probably benign Het
Pum2 T C 12: 8,759,454 (GRCm39) V98A probably damaging Het
Rad50 A T 11: 53,574,968 (GRCm39) S652T probably benign Het
Rfng G T 11: 120,674,901 (GRCm39) P30T unknown Het
Rfx7 T C 9: 72,524,973 (GRCm39) I721T probably benign Het
Rpf1 G T 3: 146,213,431 (GRCm39) T240K probably benign Het
Ryr3 T C 2: 112,483,270 (GRCm39) N4189S probably benign Het
Samd15 G C 12: 87,248,212 (GRCm39) R299T probably benign Het
Scn3a A G 2: 65,329,335 (GRCm39) M765T possibly damaging Het
Scn9a G A 2: 66,324,966 (GRCm39) S1396L probably damaging Het
Sec24a C T 11: 51,634,605 (GRCm39) R107Q probably benign Het
Sema4b T A 7: 79,870,567 (GRCm39) V505E probably damaging Het
Siglec1 T A 2: 130,920,498 (GRCm39) T769S possibly damaging Het
Sit1 T C 4: 43,483,168 (GRCm39) E69G possibly damaging Het
Slc12a8 C A 16: 33,371,321 (GRCm39) D121E probably benign Het
Slc30a10 A T 1: 185,187,664 (GRCm39) Q135L probably benign Het
Suox A G 10: 128,507,200 (GRCm39) V276A probably benign Het
Tbc1d9b A G 11: 50,040,659 (GRCm39) D392G probably damaging Het
Tmed5 A G 5: 108,273,823 (GRCm39) W139R probably damaging Het
Tnks1bp1 C T 2: 84,893,226 (GRCm39) T389I possibly damaging Het
Vmn1r65 A T 7: 6,011,256 (GRCm39) I326K probably benign Het
Vmn2r43 A G 7: 8,256,601 (GRCm39) S421P possibly damaging Het
Vmn2r57 A T 7: 41,076,968 (GRCm39) N399K possibly damaging Het
Vmn2r90 T A 17: 17,933,127 (GRCm39) L229* probably null Het
Vwf A T 6: 125,656,265 (GRCm39) D2610V Het
Zfp646 C T 7: 127,483,082 (GRCm39) S1753L probably benign Het
Zfy2 C A Y: 2,107,096 (GRCm39) V513F possibly damaging Het
Zranb2 A T 3: 157,251,731 (GRCm39) I317F unknown 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
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'- AGTGGTCAAGTCTTCCAGCAG -3'
(R):5'- CAAGAGGAGTGACAACCCCTAG -3'

Sequencing Primer
(F):5'- GCAGGGAACTCTGCTACATTATC -3'
(R):5'- CCCTAGGTTGGTGGTGTTACAAATC -3'
Posted On 2020-09-02