Incidental Mutation 'R6048:Grm5'
| ID |
483387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm5
|
| Ensembl Gene |
ENSMUSG00000049583 |
| Gene Name |
glutamate receptor, metabotropic 5 |
| Synonyms |
mGluR5, 6430542K11Rik, Gprc1e, Glu5R |
| MMRRC Submission |
044216-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
87233376-87784115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87675758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 424
(L424P)
|
| 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: L424P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: L424P
| 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 damaging
Transcript: ENSMUST00000125009
AA Change: L424P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: L424P
| 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 damaging
Transcript: ENSMUST00000155358
AA Change: L424P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: L424P
| 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 |
0.9095 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
98% (60/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a2 |
T |
C |
9: 71,169,049 (GRCm39) |
I177T |
probably damaging |
Het |
| Aopep |
T |
A |
13: 63,388,139 (GRCm39) |
F39L |
probably damaging |
Het |
| Arl4c |
A |
G |
1: 88,629,350 (GRCm39) |
S13P |
possibly damaging |
Het |
| Bst1 |
G |
T |
5: 43,976,306 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
G |
A |
14: 55,741,302 (GRCm39) |
R1029Q |
probably benign |
Het |
| Cflar |
A |
G |
1: 58,780,202 (GRCm39) |
T269A |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,121,798 (GRCm39) |
Y236F |
probably damaging |
Het |
| Clmp |
T |
A |
9: 40,682,405 (GRCm39) |
I63N |
probably damaging |
Het |
| Cln6 |
T |
C |
9: 62,751,908 (GRCm39) |
L44P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,718,915 (GRCm39) |
A280T |
unknown |
Het |
| Dact2 |
A |
G |
17: 14,417,567 (GRCm39) |
L211P |
probably damaging |
Het |
| Dclk2 |
G |
T |
3: 86,813,272 (GRCm39) |
Q225K |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,453,616 (GRCm39) |
F1245S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,835,259 (GRCm39) |
K3540E |
unknown |
Het |
| Eif3i |
T |
C |
4: 129,487,145 (GRCm39) |
N240S |
probably benign |
Het |
| Enpp1 |
T |
C |
10: 24,536,152 (GRCm39) |
Y416C |
probably damaging |
Het |
| Epb42 |
T |
A |
2: 120,854,889 (GRCm39) |
R565S |
probably benign |
Het |
| Eral1 |
G |
A |
11: 77,966,609 (GRCm39) |
P217L |
probably benign |
Het |
| Fbxl16 |
A |
G |
17: 26,035,967 (GRCm39) |
Y188C |
probably benign |
Het |
| Fgd3 |
G |
A |
13: 49,427,224 (GRCm39) |
P503S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,340,062 (GRCm39) |
L785P |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,835,769 (GRCm39) |
|
probably null |
Het |
| Gm10787 |
C |
T |
10: 76,857,676 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
A |
G |
19: 23,653,246 (GRCm39) |
K12R |
probably benign |
Het |
| H2ac11 |
A |
G |
13: 22,227,006 (GRCm39) |
V31A |
probably benign |
Het |
| Il17re |
T |
C |
6: 113,447,069 (GRCm39) |
S607P |
possibly damaging |
Het |
| Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,651,780 (GRCm39) |
M854T |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,348,086 (GRCm39) |
L315P |
probably damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,497,734 (GRCm39) |
V11A |
possibly damaging |
Het |
| Mxd1 |
C |
A |
6: 86,627,966 (GRCm39) |
D191Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,807,160 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,543,128 (GRCm39) |
|
probably null |
Het |
| Nxph1 |
A |
T |
6: 9,247,103 (GRCm39) |
T25S |
probably benign |
Het |
| Or1n1 |
A |
G |
2: 36,749,853 (GRCm39) |
V169A |
probably benign |
Het |
| Or2bd2 |
A |
C |
7: 6,443,354 (GRCm39) |
T152P |
possibly damaging |
Het |
| Or3a1 |
A |
T |
11: 74,225,961 (GRCm39) |
I32K |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,526 (GRCm39) |
N7S |
probably benign |
Het |
| Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,695 (GRCm39) |
F79L |
possibly damaging |
Het |
| Oxsm |
T |
A |
14: 16,242,308 (GRCm38) |
M154L |
possibly damaging |
Het |
| Papolg |
A |
C |
11: 23,841,815 (GRCm39) |
I36S |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,107,502 (GRCm39) |
H544Q |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,656 (GRCm39) |
|
probably null |
Het |
| Prkce |
C |
A |
17: 86,800,775 (GRCm39) |
P397Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,276,765 (GRCm39) |
S492G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,054,659 (GRCm39) |
Y630H |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,459,973 (GRCm39) |
T211I |
possibly damaging |
Het |
| Scyl2 |
A |
T |
10: 89,481,348 (GRCm39) |
D666E |
probably benign |
Het |
| Sertad2 |
A |
G |
11: 20,598,436 (GRCm39) |
T211A |
probably benign |
Het |
| Sipa1l1 |
A |
T |
12: 82,487,643 (GRCm39) |
Q1639L |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,101,073 (GRCm39) |
D98G |
probably damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,185,332 (GRCm39) |
|
probably null |
Het |
| Spmip2 |
T |
C |
3: 79,313,192 (GRCm39) |
S89P |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 128,346,181 (GRCm39) |
S114P |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,019,846 (GRCm39) |
G579R |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,517,295 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,448 (GRCm39) |
I110T |
probably damaging |
Het |
| Vps37a |
C |
T |
8: 40,981,363 (GRCm39) |
L69F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,338,587 (GRCm39) |
I276N |
possibly damaging |
Het |
| Zfp946 |
G |
A |
17: 22,673,821 (GRCm39) |
E192K |
probably benign |
Het |
|
| Other mutations in Grm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GAGCTCTTTCTCATTGTTCAGG -3'
(R):5'- GCTTTAACCAAACCTGCTCCAG -3'
Sequencing Primer
(F):5'- TCAGGATCTGTGAATGTAGCTATAG -3'
(R):5'- TGCTCCAGAAACCCGAGTAAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation