Incidental Mutation 'R0078:Grm5'
ID 19545
Institutional Source Beutler Lab
Gene Symbol Grm5
Ensembl Gene ENSMUSG00000049583
Gene Name glutamate receptor, metabotropic 5
Synonyms mGluR5, 6430542K11Rik, Gprc1e, Glu5R
MMRRC Submission 038365-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R0078 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 87233376-87784115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87724185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 825 (L825P)
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: L825P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: L825P

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: L825P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: L825P

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: L825P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: L825P

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 damaging
Transcript: ENSMUST00000167164
AA Change: L825P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129181
Gene: ENSMUSG00000049583
AA Change: L825P

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 0.8774 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency 81% (203/250)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,891,129 (GRCm39) Q456L probably benign Het
Abcf1 A G 17: 36,268,954 (GRCm39) probably benign Het
Adamts7 A T 9: 90,061,464 (GRCm39) S357C probably damaging Het
Ankrd26 A G 6: 118,512,030 (GRCm39) probably benign Het
Asb17 T A 3: 153,550,301 (GRCm39) V111E probably damaging Het
C1qtnf4 C A 2: 90,719,893 (GRCm39) N55K probably damaging Het
Cacng5 G T 11: 107,768,259 (GRCm39) D249E probably benign Het
Camkk2 C A 5: 122,895,622 (GRCm39) probably null Het
Ccdc27 T G 4: 154,120,195 (GRCm39) probably benign Het
Cfap251 G A 5: 123,436,633 (GRCm39) R1054H probably benign Het
Cngb1 T A 8: 95,991,173 (GRCm39) probably null Het
Col7a1 A G 9: 108,803,981 (GRCm39) probably benign Het
Corin T A 5: 72,611,816 (GRCm39) D148V possibly damaging Het
Cstdc1 T A 2: 148,627,745 (GRCm39) *131K probably null Het
Defb26 A C 2: 152,349,988 (GRCm39) D97E possibly damaging Het
Dgkb A G 12: 38,186,540 (GRCm39) N237D probably benign Het
Dsp A G 13: 38,379,993 (GRCm39) N1647S probably benign Het
Dtna G A 18: 23,754,499 (GRCm39) A438T probably damaging Het
Erbb3 G T 10: 128,419,310 (GRCm39) F219L probably damaging Het
EU599041 G A 7: 42,875,275 (GRCm39) noncoding transcript Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Fat4 T C 3: 38,943,080 (GRCm39) S658P probably benign Het
Fgfr2 C T 7: 129,802,805 (GRCm39) D168N possibly damaging Het
Fstl5 T A 3: 76,566,952 (GRCm39) probably benign Het
Glmn C T 5: 107,705,836 (GRCm39) V451I probably benign Het
Gm9938 T A 19: 23,701,988 (GRCm39) probably benign Het
Gpat2 T C 2: 127,270,169 (GRCm39) S61P probably damaging Het
Gpr22 T A 12: 31,761,640 (GRCm39) M6L probably benign Het
Gstz1 A T 12: 87,206,477 (GRCm39) I66F probably benign Het
H2-T22 A G 17: 36,351,501 (GRCm39) V243A probably damaging Het
H2-T5 A T 17: 36,476,353 (GRCm39) S304T possibly damaging Het
Hivep1 C T 13: 42,309,517 (GRCm39) L586F probably damaging Het
Hmcn2 T G 2: 31,278,356 (GRCm39) L1686R probably damaging Het
Ice1 T C 13: 70,751,467 (GRCm39) R1540G probably damaging Het
Igha T A 12: 113,223,547 (GRCm39) probably benign Het
Kif3a C A 11: 53,469,812 (GRCm39) T141K probably benign Het
Knl1 G A 2: 118,900,373 (GRCm39) M691I probably benign Het
L3mbtl1 T C 2: 162,789,146 (GRCm39) V13A probably benign Het
Lamc1 T A 1: 153,104,936 (GRCm39) N1282I probably damaging Het
Lemd2 G T 17: 27,422,702 (GRCm39) L231I probably benign Het
Lrrk2 G A 15: 91,618,212 (GRCm39) V904M probably benign Het
Lyzl6 C T 11: 103,524,795 (GRCm39) S103N probably benign Het
Macf1 T A 4: 123,367,661 (GRCm39) R2367W probably damaging Het
Mapk3 T C 7: 126,358,977 (GRCm39) Y54H probably damaging Het
Mlh3 A T 12: 85,315,592 (GRCm39) V198D probably damaging Het
Myocd T C 11: 65,078,290 (GRCm39) S374G possibly damaging Het
Ngef T C 1: 87,468,387 (GRCm39) E124G probably benign Het
Nhsl3 T C 4: 129,121,516 (GRCm39) probably null Het
Nr4a2 T C 2: 57,002,240 (GRCm39) Y8C probably damaging Het
Nynrin T A 14: 56,100,789 (GRCm39) V193D probably damaging Het
Or10ak9 T A 4: 118,726,424 (GRCm39) S148T probably benign Het
Or10w1 G T 19: 13,632,179 (GRCm39) V129F probably benign Het
Or1p1 A T 11: 74,180,092 (GRCm39) I207F probably damaging Het
Or4k36 A T 2: 111,146,249 (GRCm39) I142F probably benign Het
Or6d15 A G 6: 116,559,701 (GRCm39) S69P probably damaging Het
Pcdh18 T C 3: 49,710,793 (GRCm39) Y174C probably damaging Het
Pcf11 T C 7: 92,318,767 (GRCm39) D21G possibly damaging Het
Pdia4 A C 6: 47,775,344 (GRCm39) F489V possibly damaging Het
Pitrm1 C T 13: 6,625,068 (GRCm39) P849S probably damaging Het
Plcz1 T C 6: 139,935,510 (GRCm39) Y644C probably damaging Het
Ppp5c T C 7: 16,761,650 (GRCm39) E28G probably benign Het
Prkcb A G 7: 122,189,393 (GRCm39) Y507C probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Scarf1 A G 11: 75,405,988 (GRCm39) probably benign Het
Scoc T A 8: 84,184,887 (GRCm39) probably null Het
Sh2d4a A T 8: 68,734,973 (GRCm39) M31L probably damaging Het
Spta1 T A 1: 174,034,598 (GRCm39) probably benign Het
Stard7 A G 2: 127,134,127 (GRCm39) Y270C probably damaging Het
Svs3b T C 2: 164,097,881 (GRCm39) T147A probably benign Het
Tmtc3 A G 10: 100,284,823 (GRCm39) L604P probably damaging Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Trpm8 C A 1: 88,255,870 (GRCm39) probably benign Het
Tspan9 T C 6: 127,943,448 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,468,643 (GRCm39) R713C probably damaging Het
Tyro3 A T 2: 119,647,487 (GRCm39) Q872L probably damaging Het
Vmn1r204 G A 13: 22,740,379 (GRCm39) M3I probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdfy3 A G 5: 102,035,971 (GRCm39) I2149T possibly damaging Het
Zfp668 A T 7: 127,467,210 (GRCm39) M122K possibly damaging Het
Zkscan1 A T 5: 138,091,363 (GRCm39) D32V 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
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
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'- ATGCATGACTATCCAAGCATCCGAG -3'
(R):5'- GAACTGTTTCCCTAGCAGCCATACC -3'

Sequencing Primer
(F):5'- TGTTCCAGCCAACTTTAACGAG -3'
(R):5'- GCCATACCCCGCTATGC -3'
Posted On 2013-04-11