Incidental Mutation 'R6419:Grm3'
| ID |
517996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm3
|
| Ensembl Gene |
ENSMUSG00000003974 |
| Gene Name |
glutamate receptor, metabotropic 3 |
| Synonyms |
mGluR3, mGlu3, 0710001G23Rik, Gprc1c |
| MMRRC Submission |
044561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9535541-9775170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9620201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 348
(N348D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004076]
|
| AlphaFold |
Q9QYS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004076
AA Change: N348D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004076
Gene: ENSMUSG00000003974
AA Change: N348D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
67 |
473 |
4.8e-102 |
PFAM |
|
Pfam:NCD3G
|
505 |
555 |
2.4e-14 |
PFAM |
|
Pfam:7tm_3
|
588 |
825 |
4.7e-62 |
PFAM |
|
low complexity region
|
849 |
861 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8546 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
96% (67/70) |
| 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, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a knock-out allele exhibit altered neuroprotection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
C |
4: 42,812,473 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
T |
A |
19: 43,825,947 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,215,759 (GRCm39) |
T260M |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,231,556 (GRCm39) |
V878I |
possibly damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,144,953 (GRCm39) |
E34G |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,796,803 (GRCm39) |
I293N |
probably damaging |
Het |
| Atosa |
G |
A |
9: 74,916,619 (GRCm39) |
S413N |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,839 (GRCm39) |
E325V |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,348 (GRCm39) |
H1310Q |
probably benign |
Het |
| Ccdc125 |
T |
A |
13: 100,826,834 (GRCm39) |
N204K |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,002,150 (GRCm39) |
D284N |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,520,483 (GRCm39) |
L316S |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,416,008 (GRCm39) |
K247R |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,574,801 (GRCm39) |
H257R |
possibly damaging |
Het |
| Cnot8 |
T |
A |
11: 58,004,891 (GRCm39) |
Y197N |
probably damaging |
Het |
| Cog3 |
A |
T |
14: 75,962,178 (GRCm39) |
C554* |
probably null |
Het |
| Col4a4 |
A |
G |
1: 82,444,207 (GRCm39) |
|
probably null |
Het |
| Cops5 |
G |
A |
1: 10,103,532 (GRCm39) |
T158I |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,792,282 (GRCm39) |
F242S |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,627,315 (GRCm39) |
V1512A |
possibly damaging |
Het |
| Dstn |
T |
G |
2: 143,781,907 (GRCm39) |
I116S |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,398 (GRCm39) |
D326N |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,684,089 (GRCm39) |
Y52N |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,119,426 (GRCm39) |
S359P |
probably benign |
Het |
| Gbp7 |
G |
A |
3: 142,252,214 (GRCm39) |
G599E |
probably benign |
Het |
| Gcat |
T |
G |
15: 78,920,264 (GRCm39) |
I198S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,466,755 (GRCm39) |
K82R |
unknown |
Het |
| Grin2b |
A |
G |
6: 135,717,965 (GRCm39) |
F709S |
probably damaging |
Het |
| Hdgfl1 |
G |
A |
13: 26,954,075 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
G |
T |
18: 61,285,296 (GRCm39) |
D564E |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,287,300 (GRCm39) |
V305A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,334,414 (GRCm39) |
S313T |
possibly damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,484 (GRCm39) |
I395K |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,708,459 (GRCm39) |
Y196* |
probably null |
Het |
| Lad1 |
T |
C |
1: 135,759,630 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,860,090 (GRCm39) |
F504L |
possibly damaging |
Het |
| Med4 |
A |
T |
14: 73,751,363 (GRCm39) |
D104V |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,301,073 (GRCm39) |
N128Y |
probably damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,068,668 (GRCm39) |
T54A |
probably benign |
Het |
| Notch2 |
G |
T |
3: 98,007,705 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
T |
3: 109,690,169 (GRCm39) |
N424K |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,009,113 (GRCm39) |
W301* |
probably null |
Het |
| Or5b116 |
T |
A |
19: 13,423,131 (GRCm39) |
S252T |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,822,766 (GRCm39) |
S113P |
possibly damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,608 (GRCm39) |
N378S |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,473,975 (GRCm39) |
S185P |
possibly damaging |
Het |
| Ptprn |
G |
A |
1: 75,240,681 (GRCm39) |
R31C |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,698,117 (GRCm39) |
V478M |
probably damaging |
Het |
| Sema6b |
A |
T |
17: 56,439,784 (GRCm39) |
L19* |
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,894,881 (GRCm39) |
|
probably null |
Het |
| Spen |
A |
T |
4: 141,203,621 (GRCm39) |
S1669T |
unknown |
Het |
| Syne2 |
T |
C |
12: 76,143,740 (GRCm39) |
F1522L |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,185,783 (GRCm39) |
A470T |
possibly damaging |
Het |
| Tent4a |
A |
C |
13: 69,658,785 (GRCm39) |
M350R |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,694,912 (GRCm39) |
E182* |
probably null |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
C |
T |
1: 84,771,591 (GRCm39) |
A186T |
probably damaging |
Het |
| Ufc1 |
C |
T |
1: 171,116,529 (GRCm39) |
A147T |
probably damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,777 (GRCm39) |
K314R |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,323,085 (GRCm39) |
I68K |
possibly damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,767 (GRCm39) |
I698F |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,795 (GRCm39) |
K607R |
probably damaging |
Het |
| Vwa3b |
T |
C |
1: 37,196,457 (GRCm39) |
V28A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,373,236 (GRCm39) |
N166S |
possibly damaging |
Het |
| Wfdc17 |
G |
A |
11: 83,595,634 (GRCm39) |
G33R |
probably damaging |
Het |
| Zfp330 |
T |
G |
8: 83,491,545 (GRCm39) |
K209N |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,934,526 (GRCm39) |
T160A |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,610,940 (GRCm39) |
C262S |
possibly damaging |
Het |
|
| Other mutations in Grm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Grm3
|
APN |
5 |
9,562,290 (GRCm39) |
missense |
probably benign |
|
|
IGL01393:Grm3
|
APN |
5 |
9,639,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01398:Grm3
|
APN |
5 |
9,535,762 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01825:Grm3
|
APN |
5 |
9,561,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Grm3
|
APN |
5 |
9,561,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02367:Grm3
|
APN |
5 |
9,561,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02526:Grm3
|
APN |
5 |
9,639,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02972:Grm3
|
APN |
5 |
9,562,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03356:Grm3
|
APN |
5 |
9,562,206 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
BB002:Grm3
|
UTSW |
5 |
9,639,880 (GRCm39) |
missense |
probably benign |
0.09 |
|
BB012:Grm3
|
UTSW |
5 |
9,639,880 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0032:Grm3
|
UTSW |
5 |
9,561,452 (GRCm39) |
splice site |
probably null |
|
|
R0032:Grm3
|
UTSW |
5 |
9,561,452 (GRCm39) |
splice site |
probably null |
|
|
R0389:Grm3
|
UTSW |
5 |
9,554,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Grm3
|
UTSW |
5 |
9,562,477 (GRCm39) |
missense |
probably benign |
|
|
R0538:Grm3
|
UTSW |
5 |
9,562,446 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0553:Grm3
|
UTSW |
5 |
9,620,048 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1124:Grm3
|
UTSW |
5 |
9,620,297 (GRCm39) |
missense |
probably benign |
|
|
R1163:Grm3
|
UTSW |
5 |
9,620,738 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1440:Grm3
|
UTSW |
5 |
9,639,958 (GRCm39) |
missense |
probably benign |
|
|
R1635:Grm3
|
UTSW |
5 |
9,561,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1734:Grm3
|
UTSW |
5 |
9,639,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1895:Grm3
|
UTSW |
5 |
9,562,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Grm3
|
UTSW |
5 |
9,554,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1940:Grm3
|
UTSW |
5 |
9,561,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Grm3
|
UTSW |
5 |
9,562,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Grm3
|
UTSW |
5 |
9,639,793 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2005:Grm3
|
UTSW |
5 |
9,639,793 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2006:Grm3
|
UTSW |
5 |
9,639,793 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R3116:Grm3
|
UTSW |
5 |
9,620,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4083:Grm3
|
UTSW |
5 |
9,562,054 (GRCm39) |
missense |
probably benign |
|
|
R4537:Grm3
|
UTSW |
5 |
9,562,083 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4855:Grm3
|
UTSW |
5 |
9,620,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5060:Grm3
|
UTSW |
5 |
9,620,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5093:Grm3
|
UTSW |
5 |
9,639,766 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5419:Grm3
|
UTSW |
5 |
9,620,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Grm3
|
UTSW |
5 |
9,554,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Grm3
|
UTSW |
5 |
9,620,536 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5804:Grm3
|
UTSW |
5 |
9,620,155 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5915:Grm3
|
UTSW |
5 |
9,561,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Grm3
|
UTSW |
5 |
9,561,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6151:Grm3
|
UTSW |
5 |
9,561,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Grm3
|
UTSW |
5 |
9,639,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7555:Grm3
|
UTSW |
5 |
9,620,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7657:Grm3
|
UTSW |
5 |
9,561,452 (GRCm39) |
splice site |
probably null |
|
|
R7925:Grm3
|
UTSW |
5 |
9,639,880 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8032:Grm3
|
UTSW |
5 |
9,562,272 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8227:Grm3
|
UTSW |
5 |
9,620,242 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8462:Grm3
|
UTSW |
5 |
9,562,365 (GRCm39) |
missense |
probably benign |
|
|
R8500:Grm3
|
UTSW |
5 |
9,561,726 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8696:Grm3
|
UTSW |
5 |
9,562,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Grm3
|
UTSW |
5 |
9,561,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Grm3
|
UTSW |
5 |
9,554,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8876:Grm3
|
UTSW |
5 |
9,561,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Grm3
|
UTSW |
5 |
9,562,483 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9035:Grm3
|
UTSW |
5 |
9,620,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9779:Grm3
|
UTSW |
5 |
9,561,656 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
X0020:Grm3
|
UTSW |
5 |
9,562,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Grm3
|
UTSW |
5 |
9,535,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Grm3
|
UTSW |
5 |
9,562,238 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Grm3
|
UTSW |
5 |
9,620,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATCTTCATTGCATCACAGAGC -3'
(R):5'- AATGCTTCCTTCACCTGGGTG -3'
Sequencing Primer
(F):5'- CATTGCATCACAGAGCTTGGTG -3'
(R):5'- TTCACCTGGGTGGCCAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation