Incidental Mutation 'R6454:Grm8'
| ID |
519471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm8
|
| Ensembl Gene |
ENSMUSG00000024211 |
| Gene Name |
glutamate receptor, metabotropic 8 |
| Synonyms |
mGluR8, Gprc1h |
| MMRRC Submission |
044590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6454 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
27275120-28135094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 27363775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 580
(H580P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090512]
[ENSMUST00000115323]
[ENSMUST00000115324]
|
| AlphaFold |
P47743 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090512
AA Change: H580P
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000087998
Gene: ENSMUSG00000024211
AA Change: H580P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
74 |
478 |
9.6e-102 |
PFAM |
|
Pfam:Peripla_BP_6
|
141 |
375 |
1.3e-9 |
PFAM |
|
Pfam:NCD3G
|
512 |
562 |
5e-17 |
PFAM |
|
Pfam:7tm_3
|
593 |
841 |
4.7e-88 |
PFAM |
|
low complexity region
|
887 |
905 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115323
AA Change: H580P
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110978
Gene: ENSMUSG00000024211
AA Change: H580P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
74 |
478 |
3.3e-107 |
PFAM |
|
Pfam:NCD3G
|
512 |
562 |
9e-14 |
PFAM |
|
Pfam:7tm_3
|
595 |
840 |
6.8e-58 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115324
AA Change: H580P
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110979
Gene: ENSMUSG00000024211
AA Change: H580P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
74 |
478 |
2.1e-101 |
PFAM |
|
Pfam:Peripla_BP_6
|
141 |
375 |
9.2e-10 |
PFAM |
|
Pfam:NCD3G
|
512 |
562 |
2.8e-16 |
PFAM |
|
Pfam:7tm_3
|
593 |
841 |
2.4e-87 |
PFAM |
|
| Meta Mutation Damage Score |
0.0835 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (63/63) |
| 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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are overweight and mildly insulin resistant, and display increased anxiety-related responses and reduced exploration in a new environment. Mice homozygous for a different knock-out allele exhibit altered excitatory responses in the dentate gyrus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
G |
T |
8: 44,079,845 (GRCm39) |
N126K |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,270,294 (GRCm39) |
T1469I |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,608,290 (GRCm39) |
T93A |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,245,948 (GRCm39) |
|
probably null |
Het |
| Casz1 |
A |
T |
4: 149,035,952 (GRCm39) |
I1405F |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,403 (GRCm39) |
S100P |
probably damaging |
Het |
| Creld2 |
T |
A |
15: 88,707,274 (GRCm39) |
C197* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 15,971,150 (GRCm39) |
F3055Y |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,880,590 (GRCm39) |
E3843D |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,611,270 (GRCm39) |
S3799P |
probably damaging |
Het |
| Dpp9 |
A |
T |
17: 56,513,808 (GRCm39) |
L102Q |
probably damaging |
Het |
| Eipr1 |
T |
G |
12: 28,914,761 (GRCm39) |
I305S |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Faf1 |
G |
T |
4: 109,699,531 (GRCm39) |
A359S |
probably benign |
Het |
| Fam13b |
A |
G |
18: 34,590,715 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,638,015 (GRCm39) |
N363I |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,245,479 (GRCm39) |
F523L |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,517,527 (GRCm39) |
M383K |
possibly damaging |
Het |
| Lgi4 |
A |
T |
7: 30,759,557 (GRCm39) |
T38S |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,241,191 (GRCm39) |
M856K |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nlrp9c |
G |
A |
7: 26,085,199 (GRCm39) |
R127C |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,044,722 (GRCm39) |
I1548T |
possibly damaging |
Het |
| Nphs2 |
T |
A |
1: 156,146,337 (GRCm39) |
H179Q |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,863,136 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
G |
6: 96,142,609 (GRCm39) |
H145P |
possibly damaging |
Het |
| Odf2l |
C |
A |
3: 144,859,181 (GRCm39) |
Q517K |
possibly damaging |
Het |
| Omd |
A |
T |
13: 49,743,345 (GRCm39) |
I132F |
probably damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,130 (GRCm39) |
*312Q |
probably null |
Het |
| Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,395 (GRCm39) |
N93Y |
probably benign |
Het |
| Or9g19 |
A |
G |
2: 85,600,717 (GRCm39) |
K191E |
probably benign |
Het |
| Otog |
A |
G |
7: 45,955,241 (GRCm39) |
N544D |
probably damaging |
Het |
| Ovol3 |
A |
G |
7: 29,934,800 (GRCm39) |
Y29H |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,515,353 (GRCm39) |
K97E |
possibly damaging |
Het |
| Pcdhb19 |
G |
T |
18: 37,632,322 (GRCm39) |
V706L |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,268,208 (GRCm39) |
R588C |
probably damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,587,986 (GRCm39) |
V1062L |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,827 (GRCm39) |
F127L |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,220,456 (GRCm39) |
I476F |
probably damaging |
Het |
| Rnf5 |
A |
C |
17: 34,821,283 (GRCm39) |
C47W |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,538,910 (GRCm39) |
M517K |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,948,796 (GRCm39) |
T188M |
probably benign |
Het |
| Smco1 |
A |
G |
16: 32,092,041 (GRCm39) |
T40A |
possibly damaging |
Het |
| Speer4f2 |
A |
T |
5: 17,579,431 (GRCm39) |
I77F |
probably damaging |
Het |
| Spem2 |
A |
G |
11: 69,708,254 (GRCm39) |
L237P |
probably damaging |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Tent5b |
A |
G |
4: 133,207,720 (GRCm39) |
D37G |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,938 (GRCm39) |
T749S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,533,866 (GRCm39) |
K2291E |
probably damaging |
Het |
| Tm6sf1 |
A |
G |
7: 81,525,801 (GRCm39) |
M294V |
probably damaging |
Het |
| Tmem35b |
T |
C |
4: 127,022,811 (GRCm39) |
*138R |
probably null |
Het |
| Tpst1 |
A |
G |
5: 130,130,892 (GRCm39) |
K121E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,261 (GRCm39) |
V51D |
possibly damaging |
Het |
| Tshr |
C |
A |
12: 91,505,323 (GRCm39) |
Q754K |
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,723,023 (GRCm39) |
M157K |
probably damaging |
Het |
| Ube2g2 |
T |
G |
10: 77,470,580 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
T |
G |
5: 87,388,836 (GRCm39) |
D459A |
probably damaging |
Het |
| Usp35 |
A |
T |
7: 96,960,851 (GRCm39) |
Y858* |
probably null |
Het |
| Usp35 |
A |
T |
7: 96,960,767 (GRCm39) |
N886K |
probably damaging |
Het |
| Wdr33 |
T |
C |
18: 31,963,028 (GRCm39) |
V125A |
possibly damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,986,310 (GRCm39) |
T506I |
possibly damaging |
Het |
|
| Other mutations in Grm8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Grm8
|
APN |
6 |
27,363,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Grm8
|
APN |
6 |
27,762,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02329:Grm8
|
APN |
6 |
27,363,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Grm8
|
APN |
6 |
27,363,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02584:Grm8
|
APN |
6 |
27,762,438 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03040:Grm8
|
APN |
6 |
28,126,122 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
IGL03112:Grm8
|
APN |
6 |
27,363,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Grm8
|
APN |
6 |
27,618,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03287:Grm8
|
APN |
6 |
27,760,254 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0137:Grm8
|
UTSW |
6 |
27,762,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0266:Grm8
|
UTSW |
6 |
27,285,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Grm8
|
UTSW |
6 |
27,981,221 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0580:Grm8
|
UTSW |
6 |
27,761,370 (GRCm39) |
splice site |
probably benign |
|
|
R0698:Grm8
|
UTSW |
6 |
27,363,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Grm8
|
UTSW |
6 |
27,363,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Grm8
|
UTSW |
6 |
27,981,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1323:Grm8
|
UTSW |
6 |
28,125,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1323:Grm8
|
UTSW |
6 |
28,125,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Grm8
|
UTSW |
6 |
27,363,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1554:Grm8
|
UTSW |
6 |
28,125,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1638:Grm8
|
UTSW |
6 |
28,125,882 (GRCm39) |
nonsense |
probably null |
|
|
R1763:Grm8
|
UTSW |
6 |
27,285,866 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1899:Grm8
|
UTSW |
6 |
28,125,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Grm8
|
UTSW |
6 |
27,429,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Grm8
|
UTSW |
6 |
27,363,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2257:Grm8
|
UTSW |
6 |
27,760,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2351:Grm8
|
UTSW |
6 |
28,126,118 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2396:Grm8
|
UTSW |
6 |
27,761,241 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3801:Grm8
|
UTSW |
6 |
28,125,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3802:Grm8
|
UTSW |
6 |
28,125,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3803:Grm8
|
UTSW |
6 |
28,125,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3804:Grm8
|
UTSW |
6 |
28,125,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3830:Grm8
|
UTSW |
6 |
27,761,228 (GRCm39) |
nonsense |
probably null |
|
|
R3844:Grm8
|
UTSW |
6 |
27,429,507 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4006:Grm8
|
UTSW |
6 |
27,981,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Grm8
|
UTSW |
6 |
27,760,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4395:Grm8
|
UTSW |
6 |
27,429,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4436:Grm8
|
UTSW |
6 |
27,761,237 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4810:Grm8
|
UTSW |
6 |
27,761,295 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5357:Grm8
|
UTSW |
6 |
27,762,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Grm8
|
UTSW |
6 |
27,761,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5983:Grm8
|
UTSW |
6 |
27,760,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5990:Grm8
|
UTSW |
6 |
27,363,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Grm8
|
UTSW |
6 |
27,363,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6713:Grm8
|
UTSW |
6 |
27,363,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Grm8
|
UTSW |
6 |
27,981,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7194:Grm8
|
UTSW |
6 |
27,618,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7259:Grm8
|
UTSW |
6 |
27,760,175 (GRCm39) |
missense |
probably null |
0.99 |
|
R7305:Grm8
|
UTSW |
6 |
27,761,354 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7421:Grm8
|
UTSW |
6 |
27,762,476 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7561:Grm8
|
UTSW |
6 |
27,429,524 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7605:Grm8
|
UTSW |
6 |
27,618,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Grm8
|
UTSW |
6 |
27,760,257 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7775:Grm8
|
UTSW |
6 |
27,363,671 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7778:Grm8
|
UTSW |
6 |
27,363,671 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7781:Grm8
|
UTSW |
6 |
27,285,786 (GRCm39) |
missense |
probably benign |
|
|
R7785:Grm8
|
UTSW |
6 |
27,618,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7898:Grm8
|
UTSW |
6 |
27,762,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Grm8
|
UTSW |
6 |
27,363,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8274:Grm8
|
UTSW |
6 |
27,761,335 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8501:Grm8
|
UTSW |
6 |
27,618,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8695:Grm8
|
UTSW |
6 |
28,126,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8824:Grm8
|
UTSW |
6 |
27,761,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8869:Grm8
|
UTSW |
6 |
27,363,752 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9322:Grm8
|
UTSW |
6 |
27,363,728 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9337:Grm8
|
UTSW |
6 |
27,761,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9518:Grm8
|
UTSW |
6 |
27,429,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF013:Grm8
|
UTSW |
6 |
27,363,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Grm8
|
UTSW |
6 |
28,126,026 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGGTGCCGCAATCATC -3'
(R):5'- GGCTAATAGAGAGCACACGC -3'
Sequencing Primer
(F):5'- CAGAAGCTCTCACGATTG -3'
(R):5'- AGCATCTGTCTGCAGCCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation