Incidental Mutation 'R9424:Grm5'
ID 712496
Institutional Source Beutler Lab
Gene Symbol Grm5
Ensembl Gene ENSMUSG00000049583
Gene Name glutamate receptor, metabotropic 5
Synonyms mGluR5, 6430542K11Rik, Gprc1e, Glu5R
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R9424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 87233376-87784115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87765484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 904 (A904V)
Ref Sequence ENSEMBL: ENSMUSP00000114927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107263] [ENSMUST00000125009] [ENSMUST00000155358]
AlphaFold Q3UVX5
Predicted Effect probably benign
Transcript: ENSMUST00000107263
SMART Domains Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583

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
SMART Domains Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583

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: A904V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: A904V

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: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,947,843 (GRCm39) I580N probably benign Het
Adam9 C A 8: 25,445,953 (GRCm39) V814F probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ak2 A G 4: 128,896,195 (GRCm39) E120G possibly damaging Het
Akap9 C A 5: 4,012,223 (GRCm39) Y975* probably null Het
Akap9 C T 5: 4,012,224 (GRCm39) Q976* probably null Het
Bpnt1 T C 1: 185,070,335 (GRCm39) M9T possibly damaging Het
C4bp C A 1: 130,584,912 (GRCm39) L41F probably damaging Het
Car3 A T 3: 14,929,450 (GRCm39) I59F Het
Card11 T C 5: 140,894,395 (GRCm39) D78G probably damaging Het
Ccdc125 A G 13: 100,820,876 (GRCm39) D199G possibly damaging Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Cd48 T A 1: 171,532,432 (GRCm39) I237N possibly damaging Het
Cep295 T C 9: 15,244,499 (GRCm39) E1319G probably damaging Het
Col6a4 C A 9: 105,945,271 (GRCm39) A948S probably benign Het
Dcp1b T A 6: 119,196,993 (GRCm39) Y563* probably null Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Ddx59 T A 1: 136,344,681 (GRCm39) Y117* probably null Het
Dennd2a A T 6: 39,485,294 (GRCm39) Y328* probably null Het
Dhx30 A G 9: 109,916,712 (GRCm39) L601P probably damaging Het
Dip2c A G 13: 9,709,431 (GRCm39) T1424A probably damaging Het
Dlg2 A G 7: 92,080,325 (GRCm39) N733S probably damaging Het
Dnah5 C T 15: 28,272,286 (GRCm39) T1030M probably benign Het
Fgd5 A T 6: 91,956,017 (GRCm39) R3* probably null Het
Gbf1 A T 19: 46,248,122 (GRCm39) T300S probably benign Het
Gm5591 A T 7: 38,219,721 (GRCm39) L384Q probably damaging Het
Havcr1 T A 11: 46,669,391 (GRCm39) V290E probably benign Het
Hspb7 A G 4: 141,149,241 (GRCm39) D49G possibly damaging Het
Itpr2 A T 6: 146,212,505 (GRCm39) I1537N probably damaging Het
Kalrn T C 16: 33,809,188 (GRCm39) T2567A probably benign Het
Kat8 T C 7: 127,524,100 (GRCm39) L380S probably benign Het
Krt1c T A 15: 101,719,792 (GRCm39) Y626F unknown Het
Lrrk2 T A 15: 91,636,388 (GRCm39) L1454* probably null Het
Mgat4a C A 1: 37,529,436 (GRCm39) V148F probably damaging Het
Mtg1 T A 7: 139,727,212 (GRCm39) Y238* probably null Het
Neb T A 2: 52,041,410 (GRCm39) Q6807L probably benign Het
Nlrp9a C A 7: 26,260,178 (GRCm39) F644L probably benign Het
Pcdhb15 A G 18: 37,607,263 (GRCm39) N165S Het
Pcdhb5 C A 18: 37,454,120 (GRCm39) Q167K probably damaging Het
Per1 T A 11: 68,998,855 (GRCm39) M1142K probably damaging Het
Piezo1 A G 8: 123,218,079 (GRCm39) V1220A Het
Pkd1l1 T C 11: 8,820,091 (GRCm39) T1713A Het
Plec C A 15: 76,115,377 (GRCm39) A66S probably benign Het
Ppfia4 C A 1: 134,247,044 (GRCm39) V559F possibly damaging Het
Ppil6 T C 10: 41,379,024 (GRCm39) S224P probably damaging Het
Ppp2r2d T A 7: 138,475,978 (GRCm39) M262K possibly damaging Het
Prl7d1 A T 13: 27,894,185 (GRCm39) M127K probably benign Het
Rassf9 T A 10: 102,381,577 (GRCm39) C320S probably benign Het
Rbm19 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 5: 120,278,345 (GRCm39) probably benign Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Serpina3i A G 12: 104,234,730 (GRCm39) T354A probably benign Het
Serpinb9b A G 13: 33,213,544 (GRCm39) S34G probably damaging Het
Slc19a2 T C 1: 164,076,895 (GRCm39) V25A probably damaging Het
Slc1a2 G A 2: 102,591,394 (GRCm39) E375K probably damaging Het
Slfn9 T A 11: 82,878,211 (GRCm39) Y306F possibly damaging Het
Sparcl1 A T 5: 104,241,030 (GRCm39) D131E possibly damaging Het
Srl A T 16: 4,301,031 (GRCm39) L680Q probably damaging Het
Sufu G A 19: 46,474,320 (GRCm39) W465* probably null Het
Szt2 A G 4: 118,248,151 (GRCm39) L691P probably damaging Het
Tbc1d4 A T 14: 101,703,096 (GRCm39) I783N probably damaging Het
Tmem191 C T 16: 17,094,526 (GRCm39) R62* probably null Het
Tmem217 C A 17: 29,745,690 (GRCm39) M13I possibly damaging Het
Triobp T C 15: 78,844,266 (GRCm39) S161P probably damaging Het
Trp53bp2 T C 1: 182,273,864 (GRCm39) V503A possibly damaging Het
Tspoap1 G A 11: 87,652,082 (GRCm39) probably benign Het
Ttn T C 2: 76,582,347 (GRCm39) T22849A probably damaging Het
Ugt2b37 A T 5: 87,402,217 (GRCm39) M138K probably damaging Het
Uimc1 A T 13: 55,223,646 (GRCm39) F209I possibly damaging Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Wdr91 A T 6: 34,861,302 (GRCm39) N633K possibly damaging Het
Zfp618 T C 4: 63,051,282 (GRCm39) S688P 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
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
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'- ACCATGCTTGCAGTCATGGC -3'
(R):5'- AAACAGCAGCATCTGGGAC -3'

Sequencing Primer
(F):5'- AGTCATGGCTCTTCCCCAG -3'
(R):5'- GGCTCCCATTAGTTGACATGAAG -3'
Posted On 2022-05-16