Incidental Mutation 'IGL00087:Grm5'
| ID |
1470 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grm5
|
| Ensembl Gene |
ENSMUSG00000049583 |
| Gene Name |
glutamate receptor, metabotropic 5 |
| Synonyms |
mGluR5, 6430542K11Rik, Gprc1e, Glu5R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL00087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
87233376-87784115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87779989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1143
(V1143A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107263]
[ENSMUST00000125009]
[ENSMUST00000155358]
|
| AlphaFold |
Q3UVX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107263
AA Change: V1143A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: V1143A
| Domain | Start | End | E-Value | Type |
|---|
|
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: V1143A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: V1143A
| Domain | Start | End | E-Value | Type |
|---|
|
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: V1175A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: V1175A
| Domain | Start | End | E-Value | Type |
|---|
|
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: V1175A
PolyPhen 2
Score 0.000 (Sensitivity: 0.97; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000129181
Gene: ENSMUSG00000049583
AA Change: V1175A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.0757 |
| Coding Region Coverage |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
C |
A |
3: 121,473,282 (GRCm39) |
|
probably benign |
Het |
| Actr2 |
C |
A |
11: 20,044,370 (GRCm39) |
V79L |
probably benign |
Het |
| Ankrd36 |
A |
C |
11: 5,570,131 (GRCm39) |
Y533S |
probably benign |
Het |
| Btnl1 |
A |
T |
17: 34,600,091 (GRCm39) |
D198V |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,418,038 (GRCm39) |
I684N |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,062,633 (GRCm39) |
V257D |
probably damaging |
Het |
| Ctsj |
T |
G |
13: 61,149,232 (GRCm39) |
S271R |
possibly damaging |
Het |
| Cul9 |
T |
A |
17: 46,836,635 (GRCm39) |
Q1130L |
probably damaging |
Het |
| Daam1 |
G |
T |
12: 71,988,993 (GRCm39) |
S131I |
unknown |
Het |
| Dab1 |
G |
A |
4: 104,536,007 (GRCm39) |
V139M |
probably damaging |
Het |
| Dab1 |
A |
T |
4: 104,535,950 (GRCm39) |
I120F |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,383,498 (GRCm39) |
V1142A |
possibly damaging |
Het |
| Dsg1b |
C |
T |
18: 20,529,533 (GRCm39) |
T326I |
probably damaging |
Het |
| Eif3k |
A |
C |
7: 28,674,101 (GRCm39) |
|
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,748,180 (GRCm39) |
V3A |
possibly damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,712 (GRCm39) |
V167A |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,779,544 (GRCm39) |
I418F |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,298,510 (GRCm39) |
I317T |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,945,022 (GRCm39) |
L581Q |
possibly damaging |
Het |
| Kcnn2 |
A |
C |
18: 45,725,303 (GRCm39) |
R266S |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,928,222 (GRCm39) |
S1240T |
probably benign |
Het |
| Lmnb2 |
T |
C |
10: 80,739,871 (GRCm39) |
D490G |
possibly damaging |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
| Pax9 |
A |
G |
12: 56,746,860 (GRCm39) |
N232S |
probably benign |
Het |
| Pdcd6ip |
A |
G |
9: 113,526,586 (GRCm39) |
S108P |
possibly damaging |
Het |
| Pitpnc1 |
T |
C |
11: 107,103,469 (GRCm39) |
E210G |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,272,108 (GRCm39) |
|
probably benign |
Het |
| Prl4a1 |
G |
A |
13: 28,205,443 (GRCm39) |
G136E |
probably damaging |
Het |
| Pstpip2 |
A |
G |
18: 77,961,994 (GRCm39) |
S255G |
probably benign |
Het |
| Rimbp3 |
T |
G |
16: 17,027,607 (GRCm39) |
S344A |
probably benign |
Het |
| Rint1 |
A |
G |
5: 23,999,429 (GRCm39) |
T73A |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,446,039 (GRCm39) |
V291A |
possibly damaging |
Het |
| Rrm1 |
T |
A |
7: 102,103,714 (GRCm39) |
L221* |
probably null |
Het |
| Scn11a |
A |
G |
9: 119,599,572 (GRCm39) |
L1114P |
probably benign |
Het |
| Slc44a4 |
A |
G |
17: 35,149,216 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
C |
9: 41,885,390 (GRCm39) |
N2070K |
probably damaging |
Het |
| Spaca7 |
C |
T |
8: 12,630,941 (GRCm39) |
|
probably benign |
Het |
| Speer1k |
C |
T |
5: 10,997,805 (GRCm39) |
|
probably benign |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Srsf6 |
G |
T |
2: 162,773,627 (GRCm39) |
V13F |
probably damaging |
Het |
| Stab1 |
G |
T |
14: 30,883,314 (GRCm39) |
T336N |
probably benign |
Het |
| Strbp |
A |
G |
2: 37,476,516 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
A |
G |
14: 101,845,548 (GRCm39) |
F117L |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,739,096 (GRCm39) |
V785A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,327,031 (GRCm39) |
K580E |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,192,633 (GRCm39) |
E4225D |
possibly damaging |
Het |
| Uck1 |
A |
T |
2: 32,149,681 (GRCm39) |
V66D |
probably damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,830,130 (GRCm39) |
F7S |
probably benign |
Het |
| Zan |
C |
T |
5: 137,386,082 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
T |
A |
7: 43,261,403 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Grm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation