Incidental Mutation 'R0454:Grm5'
ID 39877
Institutional Source Beutler Lab
Gene Symbol Grm5
Ensembl Gene ENSMUSG00000049583
Gene Name glutamate receptor, metabotropic 5
Synonyms mGluR5, 6430542K11Rik, Gprc1e, Glu5R
MMRRC Submission 038654-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R0454 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 87233376-87784115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87779997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1146 (S1146P)
Ref Sequence ENSEMBL: ENSMUSP00000118393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107263] [ENSMUST00000125009] [ENSMUST00000155358]
AlphaFold Q3UVX5
Predicted Effect probably damaging
Transcript: ENSMUST00000107263
AA Change: S1146P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: S1146P

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: S1146P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: S1146P

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: S1178P

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: S1178P

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
Predicted Effect probably benign
Transcript: ENSMUST00000167164
AA Change: S1178P

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129181
Gene: ENSMUSG00000049583
AA Change: S1178P

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.8%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik T C X: 65,347,274 (GRCm39) E91G unknown Het
Acot1 A G 12: 84,064,113 (GRCm39) Q407R probably benign Het
Adcy10 T A 1: 165,398,297 (GRCm39) Y1465N probably damaging Het
Ahsa2 T A 11: 23,440,702 (GRCm39) I249F probably damaging Het
Arhgap10 T C 8: 77,977,594 (GRCm39) N721S probably damaging Het
Arrdc4 T G 7: 68,391,619 (GRCm39) E216A probably damaging Het
Axin1 T C 17: 26,392,637 (GRCm39) V306A probably benign Het
Cct3 T C 3: 88,210,173 (GRCm39) probably null Het
Cfap58 G A 19: 47,963,119 (GRCm39) probably null Het
Chd9 T C 8: 91,699,859 (GRCm39) S49P possibly damaging Het
Clcn2 C A 16: 20,529,178 (GRCm39) probably null Het
Col26a1 T C 5: 136,783,047 (GRCm39) N286D probably benign Het
Cpt1b T A 15: 89,308,596 (GRCm39) I111F possibly damaging Het
Cyp4f16 T A 17: 32,756,061 (GRCm39) I30N probably damaging Het
Ddc T G 11: 11,830,587 (GRCm39) D19A possibly damaging Het
Depdc1a T A 3: 159,222,537 (GRCm39) probably null Het
Evc2 T A 5: 37,574,828 (GRCm39) C1028S possibly damaging Het
Fam228a T C 12: 4,781,457 (GRCm39) E134G probably damaging Het
Fasl T C 1: 161,615,523 (GRCm39) E111G probably benign Het
Fbxw10 A G 11: 62,767,564 (GRCm39) N800S possibly damaging Het
Fras1 T C 5: 96,910,524 (GRCm39) S3318P probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gad1 T A 2: 70,409,545 (GRCm39) M212K probably damaging Het
Gm17455 T G 10: 60,238,752 (GRCm39) S6A probably benign Het
Gsn T C 2: 35,194,651 (GRCm39) L649P probably damaging Het
H2-DMb1 A G 17: 34,374,685 (GRCm39) T112A probably benign Het
Hcn3 T A 3: 89,060,201 (GRCm39) I148F probably damaging Het
Hdac10 T C 15: 89,009,961 (GRCm39) probably null Het
Hk3 C A 13: 55,156,518 (GRCm39) D619Y probably damaging Het
Ifi44 T A 3: 151,451,134 (GRCm39) R272S possibly damaging Het
Il1rap A C 16: 26,517,625 (GRCm39) D275A probably damaging Het
Irag2 A G 6: 145,113,710 (GRCm39) R293G possibly damaging Het
Itgam A T 7: 127,707,152 (GRCm39) N660I probably benign Het
Itpr3 T C 17: 27,332,793 (GRCm39) M1853T probably benign Het
Lrrc8c A C 5: 105,754,965 (GRCm39) K247Q probably damaging Het
Map3k21 T C 8: 126,668,858 (GRCm39) S815P probably benign Het
Mast4 A G 13: 102,888,068 (GRCm39) S1114P probably damaging Het
Myh8 C T 11: 67,194,591 (GRCm39) Q1601* probably null Het
Nhlrc2 A G 19: 56,558,959 (GRCm39) D148G probably damaging Het
Nos1 T A 5: 118,081,385 (GRCm39) S1196T probably benign Het
Nsmaf C T 4: 6,424,874 (GRCm39) probably null Het
Obscn T C 11: 58,890,449 (GRCm39) D7361G unknown Het
Or2t35 T C 14: 14,407,777 (GRCm38) V183A probably damaging Het
Or52ad1 C A 7: 102,996,085 (GRCm39) A17S probably benign Het
Or5bw2 C T 7: 6,573,359 (GRCm39) A123V probably damaging Het
Pank3 T G 11: 35,668,536 (GRCm39) M175R probably benign Het
Papolg A G 11: 23,829,868 (GRCm39) probably null Het
Pcdhb21 G A 18: 37,647,566 (GRCm39) D232N probably damaging Het
Pcdhb22 T C 18: 37,651,925 (GRCm39) F131S probably damaging Het
Pik3r6 G A 11: 68,419,608 (GRCm39) A140T possibly damaging Het
Pinlyp T C 7: 24,241,947 (GRCm39) T87A possibly damaging Het
Pld1 T C 3: 28,178,724 (GRCm39) S873P probably damaging Het
Pld5 T A 1: 176,102,295 (GRCm39) Y49F probably benign Het
Polq T C 16: 36,855,252 (GRCm39) V449A probably damaging Het
Prkca A G 11: 107,869,106 (GRCm39) V69A probably benign Het
Ptk6 A G 2: 180,844,075 (GRCm39) S75P possibly damaging Het
Ptprq G A 10: 107,418,391 (GRCm39) Q1662* probably null Het
Ptprt C A 2: 161,395,742 (GRCm39) A1144S probably damaging Het
Rrm1 T A 7: 102,116,133 (GRCm39) W684R probably damaging Het
Ryr1 T A 7: 28,735,500 (GRCm39) M4093L probably damaging Het
Scnn1a C T 6: 125,299,189 (GRCm39) L90F probably damaging Het
Slc25a19 G T 11: 115,508,423 (GRCm39) Y188* probably null Het
Slc31a1 C T 4: 62,303,866 (GRCm39) probably benign Het
Slc5a11 C G 7: 122,864,458 (GRCm39) S351R possibly damaging Het
Slc6a17 A G 3: 107,384,183 (GRCm39) L387P probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Spam1 T A 6: 24,797,837 (GRCm39) L331Q probably damaging Het
Spata32 A G 11: 103,100,125 (GRCm39) W127R probably damaging Het
Spring1 A G 5: 118,393,886 (GRCm39) E88G possibly damaging Het
Spta1 T G 1: 174,041,508 (GRCm39) I1324S probably damaging Het
St6galnac4 A G 2: 32,484,330 (GRCm39) Y176C probably damaging Het
Stk10 A G 11: 32,546,724 (GRCm39) E327G probably damaging Het
Stxbp5l T A 16: 36,954,646 (GRCm39) Y912F possibly damaging Het
Tchp G A 5: 114,858,243 (GRCm39) E459K probably benign Het
Terf2 C T 8: 107,822,842 (GRCm39) W100* probably null Het
Thoc2l T G 5: 104,666,077 (GRCm39) S200A probably benign Het
Thrsp T C 7: 97,066,634 (GRCm39) N26S probably damaging Het
Tln1 C A 4: 43,553,504 (GRCm39) R297L probably benign Het
Tmeff2 C A 1: 50,967,234 (GRCm39) T43N possibly damaging Het
Tmx1 C T 12: 70,499,947 (GRCm39) A2V possibly damaging Het
Tnks1bp1 T A 2: 84,902,481 (GRCm39) L1053Q probably damaging Het
Trmt10b A T 4: 45,304,286 (GRCm39) K107N probably damaging Het
Trpa1 A T 1: 14,955,972 (GRCm39) probably null Het
Trrap A G 5: 144,783,287 (GRCm39) K3371R probably damaging Het
Tuba3b G A 6: 145,563,995 (GRCm39) V14I probably benign Het
Usp19 T C 9: 108,371,439 (GRCm39) probably null Het
Usp28 C A 9: 48,950,401 (GRCm39) D615E possibly damaging Het
Utp20 T C 10: 88,657,931 (GRCm39) D43G probably benign Het
Vmn1r58 T G 7: 5,413,997 (GRCm39) K78Q possibly damaging Het
Vmn2r10 T C 5: 109,151,327 (GRCm39) M96V probably benign Het
Wdr90 T C 17: 26,079,023 (GRCm39) E273G probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Zscan21 T C 5: 138,131,865 (GRCm39) I463T 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
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
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'- ATGACGACCTTCGCAGAGATCCAG -3'
(R):5'- ACTGTTCGGGATGTTGCTTCACAC -3'

Sequencing Primer
(F):5'- AGAGATCCAGCCTCTGCC -3'
(R):5'- CGGCTGTCATGAATTAGCAC -3'
Posted On 2013-05-23