Incidental Mutation 'R7316:Grm5'
ID 567967
Institutional Source Beutler Lab
Gene Symbol Grm5
Ensembl Gene ENSMUSG00000049583
Gene Name glutamate receptor, metabotropic 5
Synonyms mGluR5, 6430542K11Rik, Gprc1e, Glu5R
MMRRC Submission 045413-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R7316 (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 G at 87624473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 347 (T347A)
Ref Sequence ENSEMBL: ENSMUSP00000114927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107263] [ENSMUST00000125009] [ENSMUST00000155358]
AlphaFold Q3UVX5
Predicted Effect probably benign
Transcript: ENSMUST00000107263
AA Change: T347A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: T347A

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 benign
Transcript: ENSMUST00000125009
AA Change: T347A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: T347A

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 benign
Transcript: ENSMUST00000155358
AA Change: T347A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: T347A

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: 98.9%
Validation Efficiency 99% (93/94)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,969,020 (GRCm39) M214I probably benign Het
Aadat G T 8: 60,979,668 (GRCm39) G177C probably damaging Het
Adam4 T C 12: 81,466,498 (GRCm39) I708V probably benign Het
Aip T C 19: 4,164,793 (GRCm39) N264S probably benign Het
Alox8 A T 11: 69,077,064 (GRCm39) D505E probably benign Het
Ap3d1 A T 10: 80,553,693 (GRCm39) I518N probably damaging Het
Arf3 G A 15: 98,638,874 (GRCm39) Q128* probably null Het
Asph A G 4: 9,537,746 (GRCm39) V344A probably benign Het
Birc6 A T 17: 74,911,489 (GRCm39) R1500S probably damaging Het
Bptf G A 11: 106,963,935 (GRCm39) T1753I probably damaging Het
Bptf A T 11: 107,001,740 (GRCm39) C457* probably null Het
Brpf3 T A 17: 29,033,660 (GRCm39) I568N probably damaging Het
Btnl4 G C 17: 34,688,031 (GRCm39) N582K probably benign Het
Camsap3 C A 8: 3,654,648 (GRCm39) P773T possibly damaging Het
Capsl A T 15: 9,461,888 (GRCm39) I95L probably benign Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Cdan1 A T 2: 120,558,813 (GRCm39) probably null Het
Chd3 A T 11: 69,236,394 (GRCm39) L1939Q probably damaging Het
Cngb3 A T 4: 19,425,599 (GRCm39) Y469F probably benign Het
Cp T C 3: 20,026,916 (GRCm39) L448P probably damaging Het
Csnk1g2 T C 10: 80,475,687 (GRCm39) V418A possibly damaging Het
Dag1 A T 9: 108,086,701 (GRCm39) S147T probably benign Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dpysl2 A T 14: 67,100,044 (GRCm39) M64K possibly damaging Het
Dus3l A G 17: 57,072,551 (GRCm39) H38R possibly damaging Het
Eme2 G A 17: 25,113,840 (GRCm39) R62W probably damaging Het
Enox1 A T 14: 77,958,298 (GRCm39) M616L probably benign Het
Epb41l4b T A 4: 57,019,867 (GRCm39) T708S probably benign Het
Fat2 A T 11: 55,176,893 (GRCm39) I1534N probably damaging Het
Fer1l5 A G 1: 36,457,197 (GRCm39) T1649A probably benign Het
Fmo9 A G 1: 166,491,215 (GRCm39) V421A probably benign Het
Fsip2 A C 2: 82,820,035 (GRCm39) Y5256S possibly damaging Het
Gapvd1 G A 2: 34,594,681 (GRCm39) L804F probably damaging Het
Garin1a A G 6: 29,286,101 (GRCm39) M187V probably benign Het
Gen1 A G 12: 11,291,470 (GRCm39) V838A probably benign Het
Gnptab A T 10: 88,236,572 (GRCm39) N59I probably damaging Het
Gsdmc3 T C 15: 63,730,251 (GRCm39) N438D possibly damaging Het
Hmcn1 A G 1: 150,608,697 (GRCm39) L1495S probably damaging Het
Ift70a1 A T 2: 75,811,201 (GRCm39) L294Q probably damaging Het
Islr2 T C 9: 58,105,250 (GRCm39) E714G probably damaging Het
Larp4 A T 15: 99,898,898 (GRCm39) M430L probably benign Het
Lpcat2b A G 5: 107,580,979 (GRCm39) I103V not run Het
Lrguk C T 6: 34,080,191 (GRCm39) S1142F unknown Het
Lrit2 G T 14: 36,790,815 (GRCm39) V165F probably damaging Het
Mast3 T A 8: 71,232,432 (GRCm39) I1182F probably damaging Het
Mcm6 C T 1: 128,287,245 (GRCm39) D20N probably damaging Het
Mief1 A G 15: 80,133,598 (GRCm39) I218M probably damaging Het
Mmp2 A G 8: 93,567,038 (GRCm39) T453A probably benign Het
Ms4a18 T A 19: 10,979,360 (GRCm39) S219C probably damaging Het
Myo5c A T 9: 75,176,920 (GRCm39) T622S probably benign Het
Neb A T 2: 52,161,450 (GRCm39) M2114K possibly damaging Het
Nemp1 T A 10: 127,525,212 (GRCm39) L122* probably null Het
Nkx2-1 T C 12: 56,581,583 (GRCm39) N88S probably benign Het
Nr2c2 T A 6: 92,131,444 (GRCm39) C202S probably damaging Het
Ntsr1 A C 2: 180,142,545 (GRCm39) D112A probably damaging Het
Or14j3 A G 17: 37,901,026 (GRCm39) S73P probably damaging Het
Or56a41 A T 7: 104,740,107 (GRCm39) H246Q probably damaging Het
Or6n2 A T 1: 173,897,727 (GRCm39) I288F probably benign Het
Osbp2 C A 11: 3,676,431 (GRCm39) R73L probably damaging Het
Pbp2 T A 6: 135,286,830 (GRCm39) E172D probably damaging Het
Pcdhgc3 T C 18: 37,941,501 (GRCm39) I634T probably benign Het
Pcnx1 T C 12: 82,042,323 (GRCm39) S38P probably benign Het
Phyh A T 2: 4,940,855 (GRCm39) K252* probably null Het
Plcb3 C T 19: 6,943,753 (GRCm39) probably null Het
Ppargc1b T C 18: 61,440,909 (GRCm39) S670G probably damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprc T C 1: 137,992,509 (GRCm39) Y1067C probably damaging Het
Pwwp2b A C 7: 138,836,140 (GRCm39) E527A probably benign Het
Pzp T C 6: 128,490,736 (GRCm39) D409G probably damaging Het
Rbfox2 A T 15: 77,016,929 (GRCm39) N148K possibly damaging Het
Resf1 T C 6: 149,228,136 (GRCm39) L394P probably damaging Het
Rps24 T C 14: 24,540,757 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,862,584 (GRCm39) K202E probably damaging Het
Spata7 C T 12: 98,624,871 (GRCm39) R258W probably damaging Het
Spen A T 4: 141,204,365 (GRCm39) S1421T unknown Het
Svep1 T A 4: 58,068,763 (GRCm39) I3008F possibly damaging Het
Tbc1d1 G T 5: 64,492,620 (GRCm39) probably null Het
Thsd4 T A 9: 59,894,642 (GRCm39) H772L probably benign Het
Tle1 T C 4: 72,036,529 (GRCm39) I769V probably benign Het
Tm4sf19 T A 16: 32,226,466 (GRCm39) S127T possibly damaging Het
Tmprss9 C A 10: 80,730,813 (GRCm39) R780S probably benign Het
Tpp2 T C 1: 44,009,591 (GRCm39) V475A probably benign Het
Ttn A G 2: 76,692,509 (GRCm39) V471A Het
Ttn A T 2: 76,597,257 (GRCm39) N19885K probably damaging Het
Tub A T 7: 108,629,378 (GRCm39) T478S possibly damaging Het
Ube2q2l T C 6: 136,378,276 (GRCm39) K185E possibly damaging Het
Vmn2r88 A T 14: 51,651,712 (GRCm39) Y342F Het
Wdr18 C A 10: 79,801,059 (GRCm39) D157E probably benign Het
Xrra1 A T 7: 99,525,423 (GRCm39) probably null Het
Zc3h4 G C 7: 16,169,260 (GRCm39) G1198A unknown Het
Zfp568 A T 7: 29,721,681 (GRCm39) I209F possibly damaging Het
Zfp787 C A 7: 6,158,523 (GRCm39) probably benign Het
Zfp974 A T 7: 27,609,863 (GRCm39) Y621N possibly damaging Het
Zyg11b A G 4: 108,107,699 (GRCm39) I493T possibly 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
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
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'- GCTCTAAGCTGAGGGAACTG -3'
(R):5'- CCATTAAGTAGCAATACACACTCTG -3'

Sequencing Primer
(F):5'- CTCTAAGCTGAGGGAACTGTTTTTGC -3'
(R):5'- TCCTGCACAGTAACAAATGATAGTC -3'
Posted On 2019-06-26