Incidental Mutation 'R1577:Grm6'
| ID |
171236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm6
|
| Ensembl Gene |
ENSMUSG00000000617 |
| Gene Name |
glutamate receptor, metabotropic 6 |
| Synonyms |
nob3, mGluR6, nerg1 |
| MMRRC Submission |
039615-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
50741512-50757035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50753972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 759
(C759S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000631]
[ENSMUST00000171427]
|
| AlphaFold |
Q5NCH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000631
AA Change: C759S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: C759S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
61 |
471 |
4.1e-101 |
PFAM |
|
Pfam:Peripla_BP_6
|
132 |
475 |
1.7e-11 |
PFAM |
|
Pfam:NCD3G
|
508 |
558 |
5.3e-16 |
PFAM |
|
low complexity region
|
575 |
587 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
589 |
837 |
7.2e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126890
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171427
AA Change: C759S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: C759S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
61 |
471 |
2.5e-106 |
PFAM |
|
Pfam:Peripla_BP_6
|
132 |
338 |
6.2e-10 |
PFAM |
|
Pfam:NCD3G
|
508 |
558 |
4e-13 |
PFAM |
|
low complexity region
|
575 |
587 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
591 |
836 |
1.4e-56 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.3%
|
| Validation Efficiency |
|
| 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 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 3 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. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,264 (GRCm39) |
N404S |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,879,599 (GRCm39) |
E383G |
probably damaging |
Het |
| Chst4 |
A |
T |
8: 110,756,476 (GRCm39) |
H379Q |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,529,280 (GRCm39) |
I798N |
probably damaging |
Het |
| Cldnd1 |
T |
G |
16: 58,553,016 (GRCm39) |
L159R |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,906,104 (GRCm39) |
E834G |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,877,083 (GRCm39) |
R1065Q |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,162 (GRCm39) |
D674G |
probably damaging |
Het |
| Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,241 (GRCm39) |
E257G |
probably benign |
Het |
| Eif4b |
C |
T |
15: 101,998,336 (GRCm39) |
R339* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,476,420 (GRCm39) |
T1822M |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,435,413 (GRCm39) |
N282D |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,631,269 (GRCm39) |
M233V |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,684,319 (GRCm39) |
M652L |
probably benign |
Het |
| Gal3st2c |
G |
A |
1: 93,934,650 (GRCm39) |
V13M |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,599,240 (GRCm39) |
G686D |
probably damaging |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,524 (GRCm39) |
L20R |
probably damaging |
Het |
| Gm5800 |
A |
T |
14: 51,952,016 (GRCm39) |
M82K |
probably benign |
Het |
| Hs3st1 |
A |
T |
5: 39,772,393 (GRCm39) |
D83E |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,263,250 (GRCm39) |
D39G |
probably damaging |
Het |
| Ldhb |
C |
A |
6: 142,438,324 (GRCm39) |
K244N |
possibly damaging |
Het |
| Lypd6 |
C |
T |
2: 50,080,710 (GRCm39) |
R133* |
probably null |
Het |
| Med13l |
G |
A |
5: 118,859,457 (GRCm39) |
G215S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,345,196 (GRCm39) |
D606G |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,079 (GRCm39) |
T151M |
probably damaging |
Het |
| Or10q3 |
T |
C |
19: 11,847,741 (GRCm39) |
T280A |
probably damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,217 (GRCm39) |
K269R |
probably benign |
Het |
| Or2at4 |
T |
C |
7: 99,384,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Or2t26 |
T |
A |
11: 49,040,016 (GRCm39) |
C311S |
probably benign |
Het |
| Or5aq1b |
T |
C |
2: 86,901,741 (GRCm39) |
T246A |
probably benign |
Het |
| Ppm1l |
G |
A |
3: 69,460,403 (GRCm39) |
G327R |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,558,911 (GRCm39) |
A282V |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,771,367 (GRCm39) |
V464A |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,047 (GRCm39) |
E1119K |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,219,001 (GRCm39) |
T112I |
probably benign |
Het |
| Skint6 |
T |
C |
4: 113,005,720 (GRCm39) |
T363A |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,479,811 (GRCm39) |
E607* |
probably null |
Het |
| Slc24a2 |
T |
C |
4: 86,909,648 (GRCm39) |
Y690C |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,354,306 (GRCm39) |
S115G |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,527,535 (GRCm39) |
L168P |
probably damaging |
Het |
| Spats2 |
T |
A |
15: 99,076,333 (GRCm39) |
I137N |
possibly damaging |
Het |
| Stard4 |
A |
T |
18: 33,338,151 (GRCm39) |
V133D |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,284,728 (GRCm39) |
|
probably null |
Het |
| Tfpi |
A |
G |
2: 84,263,447 (GRCm39) |
I305T |
probably damaging |
Het |
| Tmtc1 |
T |
A |
6: 148,314,318 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
C |
5: 120,682,485 (GRCm39) |
W508G |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,030,974 (GRCm39) |
N406K |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,265,052 (GRCm39) |
L118* |
probably null |
Het |
| Zbtb5 |
T |
C |
4: 44,995,129 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfand4 |
C |
A |
6: 116,306,373 (GRCm39) |
Y735* |
probably null |
Het |
| Zfp180 |
G |
T |
7: 23,805,333 (GRCm39) |
C584F |
probably damaging |
Het |
|
| Other mutations in Grm6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Grm6
|
APN |
11 |
50,754,124 (GRCm39) |
splice site |
probably benign |
|
|
IGL01305:Grm6
|
APN |
11 |
50,750,346 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02121:Grm6
|
APN |
11 |
50,750,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02413:Grm6
|
APN |
11 |
50,750,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
ANU22:Grm6
|
UTSW |
11 |
50,750,346 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0089:Grm6
|
UTSW |
11 |
50,750,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:Grm6
|
UTSW |
11 |
50,744,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0147:Grm6
|
UTSW |
11 |
50,750,144 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1498:Grm6
|
UTSW |
11 |
50,748,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Grm6
|
UTSW |
11 |
50,750,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2923:Grm6
|
UTSW |
11 |
50,755,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4060:Grm6
|
UTSW |
11 |
50,744,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:Grm6
|
UTSW |
11 |
50,750,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4488:Grm6
|
UTSW |
11 |
50,750,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4489:Grm6
|
UTSW |
11 |
50,750,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4646:Grm6
|
UTSW |
11 |
50,748,033 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4701:Grm6
|
UTSW |
11 |
50,753,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Grm6
|
UTSW |
11 |
50,748,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Grm6
|
UTSW |
11 |
50,755,439 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5603:Grm6
|
UTSW |
11 |
50,747,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Grm6
|
UTSW |
11 |
50,750,144 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6746:Grm6
|
UTSW |
11 |
50,747,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Grm6
|
UTSW |
11 |
50,750,601 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6802:Grm6
|
UTSW |
11 |
50,744,216 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6856:Grm6
|
UTSW |
11 |
50,750,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Grm6
|
UTSW |
11 |
50,753,804 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7221:Grm6
|
UTSW |
11 |
50,753,870 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7727:Grm6
|
UTSW |
11 |
50,742,369 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7783:Grm6
|
UTSW |
11 |
50,753,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:Grm6
|
UTSW |
11 |
50,750,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8006:Grm6
|
UTSW |
11 |
50,755,484 (GRCm39) |
makesense |
probably null |
|
|
R8985:Grm6
|
UTSW |
11 |
50,746,537 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9666:Grm6
|
UTSW |
11 |
50,750,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Grm6
|
UTSW |
11 |
50,753,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Grm6
|
UTSW |
11 |
50,750,364 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1177:Grm6
|
UTSW |
11 |
50,750,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Grm6
|
UTSW |
11 |
50,742,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Grm6
|
UTSW |
11 |
50,742,089 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCCCTAAAAGTTCAATGCG -3'
(R):5'- AGCTCCTGGACAATCCAGACCTTC -3'
Sequencing Primer
(F):5'- TAGAAGAGGCTATGTCCCTGACTC -3'
(R):5'- TCCAGACCTTCAGTAGGGAGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation