Incidental Mutation 'R7079:Grm1'
| ID |
549423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm1
|
| Ensembl Gene |
ENSMUSG00000019828 |
| Gene Name |
glutamate receptor, metabotropic 1 |
| Synonyms |
4930455H15Rik, Grm1, mGluR1, rcw, nmf373, Gprc1a |
| MMRRC Submission |
045173-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.483)
|
| Stock # |
R7079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
10561803-10958100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10955702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 194
(D194G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044306]
[ENSMUST00000105560]
[ENSMUST00000105561]
|
| AlphaFold |
P97772 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044306
AA Change: D194G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: D194G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
485 |
1.1e-94 |
PFAM |
|
Pfam:Peripla_BP_6
|
151 |
340 |
1.4e-10 |
PFAM |
|
Pfam:NCD3G
|
521 |
571 |
5.5e-16 |
PFAM |
|
Pfam:7tm_3
|
604 |
837 |
2.4e-55 |
PFAM |
|
low complexity region
|
969 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1013 |
1033 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1088 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1109 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1136 |
N/A |
INTRINSIC |
|
GluR_Homer-bdg
|
1149 |
1199 |
6.85e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105560
AA Change: D194G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: D194G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
485 |
2e-92 |
PFAM |
|
Pfam:Peripla_BP_6
|
152 |
347 |
2.7e-12 |
PFAM |
|
Pfam:NCD3G
|
520 |
571 |
2.7e-19 |
PFAM |
|
Pfam:7tm_3
|
602 |
838 |
3.2e-73 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105561
AA Change: D194G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: D194G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
485 |
2e-92 |
PFAM |
|
Pfam:Peripla_BP_6
|
152 |
347 |
2.7e-12 |
PFAM |
|
Pfam:NCD3G
|
520 |
571 |
2.7e-19 |
PFAM |
|
Pfam:7tm_3
|
602 |
838 |
3.2e-73 |
PFAM |
|
| Meta Mutation Damage Score |
0.7717 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and 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 canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for null mutations show impairements in motor coordination, spatial learning, hippocampal mossy fiber long-term potentiation, and cerebellar long-term depression. Homozygotes for a spontaneous mutation are small and exhibit ataxia, kyphoscoliosis, albuminuria and glomerular damage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,402,323 (GRCm39) |
L405S |
possibly damaging |
Het |
| 2310009B15Rik |
T |
A |
1: 138,779,865 (GRCm39) |
Q129L |
possibly damaging |
Het |
| 4921509C19Rik |
T |
G |
2: 151,315,198 (GRCm39) |
D160A |
probably damaging |
Het |
| Aspn |
A |
G |
13: 49,720,031 (GRCm39) |
Y349C |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,854,595 (GRCm39) |
T1063A |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,474,552 (GRCm39) |
E660G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,323,408 (GRCm39) |
L970P |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,717,858 (GRCm39) |
I215T |
probably benign |
Het |
| Cort |
C |
G |
4: 149,211,848 (GRCm39) |
G85R |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,161 (GRCm39) |
I218V |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,207,731 (GRCm39) |
H140Q |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,449,253 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,723,667 (GRCm39) |
P345S |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Gfpt2 |
G |
A |
11: 49,728,578 (GRCm39) |
V679I |
possibly damaging |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Hectd1 |
G |
A |
12: 51,834,638 (GRCm39) |
T875M |
possibly damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,235,354 (GRCm39) |
H434R |
possibly damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,092 (GRCm39) |
F156L |
possibly damaging |
Het |
| Kctd11 |
A |
G |
11: 69,770,847 (GRCm39) |
Y64H |
probably damaging |
Het |
| Lmln |
T |
C |
16: 32,887,661 (GRCm39) |
L97P |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,939,016 (GRCm39) |
D188G |
possibly damaging |
Het |
| Mmd |
T |
A |
11: 90,158,325 (GRCm39) |
|
probably null |
Het |
| Nav3 |
G |
A |
10: 109,603,153 (GRCm39) |
S1132L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,092,185 (GRCm39) |
H311N |
probably benign |
Het |
| Or4c101 |
C |
A |
2: 88,389,853 (GRCm39) |
N2K |
probably damaging |
Het |
| Or52ab7 |
C |
T |
7: 102,978,391 (GRCm39) |
R233C |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,152,957 (GRCm39) |
T421A |
probably benign |
Het |
| Pfkm |
G |
A |
15: 97,992,963 (GRCm39) |
R7H |
probably benign |
Het |
| Psme2b |
A |
G |
11: 48,836,443 (GRCm39) |
F168S |
probably damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,752 (GRCm39) |
V385A |
probably benign |
Het |
| Reep5 |
G |
A |
18: 34,480,176 (GRCm39) |
T189I |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,399,062 (GRCm39) |
Y272N |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,735,147 (GRCm39) |
H348Q |
probably damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,718 (GRCm39) |
E146G |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,839,359 (GRCm39) |
I342V |
probably benign |
Het |
| Trim23 |
A |
T |
13: 104,323,801 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
T |
C |
3: 116,376,480 (GRCm39) |
T304A |
probably benign |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Ubqln3 |
A |
T |
7: 103,790,578 (GRCm39) |
I504K |
probably benign |
Het |
| Uhrf2 |
T |
G |
19: 30,060,190 (GRCm39) |
N519K |
probably null |
Het |
| Wdr93 |
T |
C |
7: 79,399,040 (GRCm39) |
M58T |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,300,580 (GRCm39) |
T961M |
unknown |
Het |
| Zfp35 |
C |
T |
18: 24,136,357 (GRCm39) |
H234Y |
possibly damaging |
Het |
| Zscan21 |
C |
T |
5: 138,124,728 (GRCm39) |
P215S |
probably benign |
Het |
|
| Other mutations in Grm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01371:Grm1
|
APN |
10 |
10,595,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02078:Grm1
|
APN |
10 |
10,565,354 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02156:Grm1
|
APN |
10 |
10,595,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02476:Grm1
|
APN |
10 |
10,565,197 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02498:Grm1
|
APN |
10 |
10,595,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02621:Grm1
|
APN |
10 |
10,564,755 (GRCm39) |
nonsense |
probably null |
|
|
IGL03192:Grm1
|
APN |
10 |
10,955,660 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03342:Grm1
|
APN |
10 |
10,955,715 (GRCm39) |
missense |
probably benign |
0.08 |
|
dewey
|
UTSW |
10 |
10,595,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dingus
|
UTSW |
10 |
10,595,711 (GRCm39) |
missense |
probably benign |
0.06 |
|
donald
|
UTSW |
10 |
10,617,252 (GRCm39) |
nonsense |
probably null |
|
|
jim
|
UTSW |
10 |
10,595,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lightness
|
UTSW |
10 |
10,955,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Grm1
|
UTSW |
10 |
10,565,411 (GRCm39) |
missense |
probably benign |
|
|
R0294:Grm1
|
UTSW |
10 |
10,956,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Grm1
|
UTSW |
10 |
10,594,953 (GRCm39) |
splice site |
probably benign |
|
|
R0554:Grm1
|
UTSW |
10 |
10,595,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1184:Grm1
|
UTSW |
10 |
10,595,778 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1319:Grm1
|
UTSW |
10 |
10,565,142 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1403:Grm1
|
UTSW |
10 |
10,955,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1403:Grm1
|
UTSW |
10 |
10,955,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Grm1
|
UTSW |
10 |
10,595,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Grm1
|
UTSW |
10 |
10,595,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:Grm1
|
UTSW |
10 |
10,565,450 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1589:Grm1
|
UTSW |
10 |
10,595,711 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1615:Grm1
|
UTSW |
10 |
10,617,252 (GRCm39) |
nonsense |
probably null |
|
|
R1720:Grm1
|
UTSW |
10 |
10,622,538 (GRCm39) |
splice site |
probably null |
|
|
R1738:Grm1
|
UTSW |
10 |
10,812,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Grm1
|
UTSW |
10 |
10,955,610 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1774:Grm1
|
UTSW |
10 |
10,955,610 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2041:Grm1
|
UTSW |
10 |
10,622,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2092:Grm1
|
UTSW |
10 |
10,564,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2198:Grm1
|
UTSW |
10 |
10,658,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Grm1
|
UTSW |
10 |
10,956,158 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2333:Grm1
|
UTSW |
10 |
10,595,363 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2333:Grm1
|
UTSW |
10 |
10,595,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2914:Grm1
|
UTSW |
10 |
10,955,601 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3105:Grm1
|
UTSW |
10 |
10,955,601 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3106:Grm1
|
UTSW |
10 |
10,955,601 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3705:Grm1
|
UTSW |
10 |
10,658,473 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3931:Grm1
|
UTSW |
10 |
10,595,622 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4810:Grm1
|
UTSW |
10 |
10,658,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4892:Grm1
|
UTSW |
10 |
10,595,331 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4938:Grm1
|
UTSW |
10 |
10,812,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Grm1
|
UTSW |
10 |
10,658,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Grm1
|
UTSW |
10 |
10,595,409 (GRCm39) |
nonsense |
probably null |
|
|
R5152:Grm1
|
UTSW |
10 |
10,955,619 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5283:Grm1
|
UTSW |
10 |
10,608,936 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5317:Grm1
|
UTSW |
10 |
10,622,443 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5374:Grm1
|
UTSW |
10 |
10,956,186 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5428:Grm1
|
UTSW |
10 |
10,595,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Grm1
|
UTSW |
10 |
10,622,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Grm1
|
UTSW |
10 |
10,955,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Grm1
|
UTSW |
10 |
10,956,294 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5899:Grm1
|
UTSW |
10 |
10,565,092 (GRCm39) |
missense |
probably benign |
|
|
R6032:Grm1
|
UTSW |
10 |
10,595,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Grm1
|
UTSW |
10 |
10,595,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Grm1
|
UTSW |
10 |
10,622,075 (GRCm39) |
intron |
probably benign |
|
|
R6144:Grm1
|
UTSW |
10 |
10,955,640 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6208:Grm1
|
UTSW |
10 |
10,595,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Grm1
|
UTSW |
10 |
10,564,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7027:Grm1
|
UTSW |
10 |
10,595,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Grm1
|
UTSW |
10 |
10,565,440 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7352:Grm1
|
UTSW |
10 |
10,595,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Grm1
|
UTSW |
10 |
10,622,403 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7838:Grm1
|
UTSW |
10 |
10,956,096 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8108:Grm1
|
UTSW |
10 |
10,595,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8379:Grm1
|
UTSW |
10 |
10,564,879 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8498:Grm1
|
UTSW |
10 |
10,955,605 (GRCm39) |
nonsense |
probably null |
|
|
R8712:Grm1
|
UTSW |
10 |
10,565,296 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8856:Grm1
|
UTSW |
10 |
10,595,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Grm1
|
UTSW |
10 |
10,595,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Grm1
|
UTSW |
10 |
10,565,056 (GRCm39) |
nonsense |
probably null |
|
|
R9477:Grm1
|
UTSW |
10 |
10,595,405 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9674:Grm1
|
UTSW |
10 |
10,609,028 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9685:Grm1
|
UTSW |
10 |
10,564,775 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9777:Grm1
|
UTSW |
10 |
10,573,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0002:Grm1
|
UTSW |
10 |
10,812,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCACTATGCTCCTGGACAC -3'
(R):5'- CCCTGATTTCCATCCGAGATG -3'
Sequencing Primer
(F):5'- CAAACCATACAATTCCTTGGCTTTTG -3'
(R):5'- CCTGATTTCCATCCGAGATGAGAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation