Incidental Mutation 'R7076:Grm7'
| ID |
549212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm7
|
| Ensembl Gene |
ENSMUSG00000056755 |
| Gene Name |
glutamate receptor, metabotropic 7 |
| Synonyms |
6330570A01Rik, Gpr1g, mGlu7a receptor, mGluR7, E130018M02Rik |
| MMRRC Submission |
045171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7076 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
110622542-111544191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111335113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 508
(D508G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071076]
[ENSMUST00000172951]
[ENSMUST00000174018]
|
| AlphaFold |
Q68ED2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071076
AA Change: D508G
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000064404
Gene: ENSMUSG00000056755
AA Change: D508G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
484 |
3e-108 |
PFAM |
|
Pfam:Peripla_BP_6
|
144 |
371 |
3e-11 |
PFAM |
|
Pfam:NCD3G
|
519 |
569 |
1.2e-13 |
PFAM |
|
Pfam:7tm_3
|
602 |
847 |
5.1e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172951
AA Change: D508G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000133957
Gene: ENSMUSG00000056755
AA Change: D508G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
484 |
1.7e-103 |
PFAM |
|
Pfam:Peripla_BP_6
|
144 |
487 |
1e-12 |
PFAM |
|
Pfam:NCD3G
|
519 |
569 |
1.2e-17 |
PFAM |
|
Pfam:7tm_3
|
600 |
848 |
1.4e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174018
|
| SMART Domains |
Protein: ENSMUSP00000134635
Gene: ENSMUSG00000056755
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
176 |
4.9e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.0954 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Nullizygous mice exhibit epilepsy and deficits in fear response and conditioned taste aversion. Homozygotes for a knock-in allele show impaired spatial working memory and higher susceptibility to PTZ. Homozygotes for a reporter allele show impaired coordination and higher susceptibility to metrazol. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
G |
8: 56,324,694 (GRCm39) |
C587R |
probably damaging |
Het |
| Adgrg7 |
T |
C |
16: 56,562,769 (GRCm39) |
T523A |
probably damaging |
Het |
| Arrdc3 |
A |
T |
13: 81,038,815 (GRCm39) |
K259M |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,186,150 (GRCm39) |
N151K |
probably benign |
Het |
| Cars2 |
C |
T |
8: 11,579,649 (GRCm39) |
E270K |
probably damaging |
Het |
| Ccp110 |
C |
A |
7: 118,331,628 (GRCm39) |
P943Q |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,661,786 (GRCm39) |
I466T |
probably benign |
Het |
| Cd164 |
A |
G |
10: 41,399,193 (GRCm39) |
E94G |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,415,446 (GRCm39) |
T1228I |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,311,091 (GRCm39) |
V3145L |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,311,092 (GRCm39) |
K3144N |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,411,078 (GRCm39) |
V1649A |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,569,452 (GRCm39) |
D153E |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,055,853 (GRCm39) |
|
probably null |
Het |
| Dnajc21 |
T |
C |
15: 10,449,717 (GRCm39) |
T435A |
probably benign |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,543 (GRCm39) |
I209F |
probably damaging |
Het |
| Ghdc |
C |
A |
11: 100,660,540 (GRCm39) |
S111I |
possibly damaging |
Het |
| Gm19965 |
T |
C |
1: 116,749,005 (GRCm39) |
C229R |
|
Het |
| Gpm6a |
C |
T |
8: 55,490,486 (GRCm39) |
T54I |
probably damaging |
Het |
| Gpr171 |
G |
T |
3: 59,005,577 (GRCm39) |
A66E |
probably damaging |
Het |
| Has1 |
G |
A |
17: 18,064,068 (GRCm39) |
R524C |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv3-8 |
A |
T |
12: 114,286,402 (GRCm39) |
L7Q |
probably damaging |
Het |
| Ints10 |
A |
T |
8: 69,249,403 (GRCm39) |
R78* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,365,257 (GRCm39) |
I903V |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,386,052 (GRCm39) |
|
probably null |
Het |
| Mki67 |
A |
G |
7: 135,307,358 (GRCm39) |
V132A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,999 (GRCm39) |
E1123G |
possibly damaging |
Het |
| Neurog3 |
A |
G |
10: 61,969,359 (GRCm39) |
T40A |
probably benign |
Het |
| Nipsnap3b |
T |
A |
4: 53,021,095 (GRCm39) |
|
probably null |
Het |
| Nr4a3 |
G |
A |
4: 48,055,957 (GRCm39) |
V328I |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,278 (GRCm39) |
Y136* |
probably null |
Het |
| Or2d36 |
T |
C |
7: 106,747,236 (GRCm39) |
F238L |
probably damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,430 (GRCm39) |
S140C |
probably damaging |
Het |
| Or5af2 |
G |
A |
11: 58,707,990 (GRCm39) |
R52Q |
probably benign |
Het |
| Or5b124 |
G |
T |
19: 13,611,244 (GRCm39) |
M256I |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,205 (GRCm39) |
V177D |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,263,577 (GRCm39) |
L102P |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,917,983 (GRCm39) |
R503Q |
probably damaging |
Het |
| Ppp2r2d |
T |
C |
7: 138,478,326 (GRCm39) |
M321T |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,475,302 (GRCm39) |
Y197C |
probably damaging |
Het |
| Prss32 |
A |
G |
17: 24,072,895 (GRCm39) |
D42G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,768,361 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,006,591 (GRCm39) |
C234R |
probably damaging |
Het |
| Slc23a4 |
A |
G |
6: 34,933,819 (GRCm39) |
S95P |
probably damaging |
Het |
| Srp14 |
T |
C |
2: 118,309,871 (GRCm39) |
T29A |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,784 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Tfr2 |
A |
T |
5: 137,581,836 (GRCm39) |
Y641F |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,117,766 (GRCm39) |
N27D |
probably damaging |
Het |
| Tvp23a |
T |
C |
16: 10,246,599 (GRCm39) |
D62G |
probably benign |
Het |
| Usp12 |
A |
G |
5: 146,674,562 (GRCm39) |
F347S |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,576,601 (GRCm39) |
L1504Q |
probably damaging |
Het |
| Zfp524 |
A |
G |
7: 5,020,895 (GRCm39) |
D141G |
possibly damaging |
Het |
| Zfp68 |
A |
G |
5: 138,605,201 (GRCm39) |
I374T |
possibly damaging |
Het |
| Zfp758 |
C |
T |
17: 22,594,137 (GRCm39) |
H208Y |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,819,751 (GRCm39) |
H1104R |
probably benign |
Het |
| Znrf2 |
T |
A |
6: 54,819,680 (GRCm39) |
*75K |
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,790,385 (GRCm39) |
V2113A |
probably benign |
Het |
|
| Other mutations in Grm7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01729:Grm7
|
APN |
6 |
111,223,145 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02058:Grm7
|
APN |
6 |
111,335,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02650:Grm7
|
APN |
6 |
111,335,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Grm7
|
APN |
6 |
111,230,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03074:Grm7
|
APN |
6 |
111,472,604 (GRCm39) |
splice site |
probably null |
|
|
IGL03185:Grm7
|
APN |
6 |
110,623,183 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Appropriated
|
UTSW |
6 |
111,472,642 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Consumed
|
UTSW |
6 |
111,335,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Devoured
|
UTSW |
6 |
111,335,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ravaged
|
UTSW |
6 |
111,335,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
shaky
|
UTSW |
6 |
111,472,752 (GRCm39) |
nonsense |
probably null |
|
|
PIT4651001:Grm7
|
UTSW |
6 |
110,623,050 (GRCm39) |
missense |
probably benign |
|
|
R0539:Grm7
|
UTSW |
6 |
111,336,055 (GRCm39) |
splice site |
probably benign |
|
|
R0622:Grm7
|
UTSW |
6 |
111,335,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1356:Grm7
|
UTSW |
6 |
111,335,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Grm7
|
UTSW |
6 |
111,335,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Grm7
|
UTSW |
6 |
111,335,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Grm7
|
UTSW |
6 |
111,335,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Grm7
|
UTSW |
6 |
111,472,752 (GRCm39) |
nonsense |
probably null |
|
|
R1823:Grm7
|
UTSW |
6 |
111,184,730 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1864:Grm7
|
UTSW |
6 |
111,057,384 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1894:Grm7
|
UTSW |
6 |
111,335,568 (GRCm39) |
missense |
probably benign |
|
|
R1987:Grm7
|
UTSW |
6 |
110,891,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Grm7
|
UTSW |
6 |
111,184,769 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2138:Grm7
|
UTSW |
6 |
110,623,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Grm7
|
UTSW |
6 |
111,335,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2289:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2296:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2339:Grm7
|
UTSW |
6 |
111,472,642 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2847:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2879:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2884:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2921:Grm7
|
UTSW |
6 |
111,472,866 (GRCm39) |
splice site |
probably null |
|
|
R2923:Grm7
|
UTSW |
6 |
111,472,866 (GRCm39) |
splice site |
probably null |
|
|
R3014:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3015:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4009:Grm7
|
UTSW |
6 |
111,472,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Grm7
|
UTSW |
6 |
110,891,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4131:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4132:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4161:Grm7
|
UTSW |
6 |
111,230,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4329:Grm7
|
UTSW |
6 |
110,891,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4357:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4359:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4379:Grm7
|
UTSW |
6 |
111,223,335 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4379:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Grm7
|
UTSW |
6 |
110,623,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Grm7
|
UTSW |
6 |
111,335,265 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4518:Grm7
|
UTSW |
6 |
110,891,507 (GRCm39) |
splice site |
probably null |
|
|
R4647:Grm7
|
UTSW |
6 |
110,891,344 (GRCm39) |
nonsense |
probably null |
|
|
R4714:Grm7
|
UTSW |
6 |
111,057,383 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4775:Grm7
|
UTSW |
6 |
110,891,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Grm7
|
UTSW |
6 |
111,335,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Grm7
|
UTSW |
6 |
111,057,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5062:Grm7
|
UTSW |
6 |
110,623,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5256:Grm7
|
UTSW |
6 |
111,335,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5431:Grm7
|
UTSW |
6 |
111,335,387 (GRCm39) |
missense |
probably benign |
|
|
R6026:Grm7
|
UTSW |
6 |
111,478,500 (GRCm39) |
nonsense |
probably null |
|
|
R6174:Grm7
|
UTSW |
6 |
111,223,258 (GRCm39) |
missense |
probably benign |
|
|
R6305:Grm7
|
UTSW |
6 |
111,335,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Grm7
|
UTSW |
6 |
111,335,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Grm7
|
UTSW |
6 |
111,230,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6519:Grm7
|
UTSW |
6 |
111,184,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6531:Grm7
|
UTSW |
6 |
111,335,386 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6888:Grm7
|
UTSW |
6 |
111,335,314 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6949:Grm7
|
UTSW |
6 |
111,472,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6949:Grm7
|
UTSW |
6 |
110,623,265 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6989:Grm7
|
UTSW |
6 |
111,184,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Grm7
|
UTSW |
6 |
111,335,530 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7208:Grm7
|
UTSW |
6 |
111,335,530 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7217:Grm7
|
UTSW |
6 |
111,335,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Grm7
|
UTSW |
6 |
110,623,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Grm7
|
UTSW |
6 |
110,622,974 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7470:Grm7
|
UTSW |
6 |
111,478,476 (GRCm39) |
missense |
|
|
|
R7567:Grm7
|
UTSW |
6 |
111,335,722 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7806:Grm7
|
UTSW |
6 |
111,223,314 (GRCm39) |
nonsense |
probably null |
|
|
R8018:Grm7
|
UTSW |
6 |
111,184,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8076:Grm7
|
UTSW |
6 |
111,543,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Grm7
|
UTSW |
6 |
110,891,297 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8420:Grm7
|
UTSW |
6 |
111,057,315 (GRCm39) |
missense |
probably benign |
|
|
R8523:Grm7
|
UTSW |
6 |
111,223,280 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8816:Grm7
|
UTSW |
6 |
111,230,966 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8958:Grm7
|
UTSW |
6 |
111,472,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9135:Grm7
|
UTSW |
6 |
111,472,729 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9207:Grm7
|
UTSW |
6 |
111,335,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Grm7
|
UTSW |
6 |
110,622,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9438:Grm7
|
UTSW |
6 |
111,231,077 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9448:Grm7
|
UTSW |
6 |
111,335,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Grm7
|
UTSW |
6 |
111,335,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Grm7
|
UTSW |
6 |
111,335,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCATCTTGTCAGGGATG -3'
(R):5'- CAGTTCGGTTCTCATTGGGC -3'
Sequencing Primer
(F):5'- CTCATCTTGTCAGGGATGTAGTTG -3'
(R):5'- CTCATTGGGCCTCTGGTCATAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation