Incidental Mutation 'R2472:Grm4'
| ID |
253189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm4
|
| Ensembl Gene |
ENSMUSG00000063239 |
| Gene Name |
glutamate receptor, metabotropic 4 |
| Synonyms |
Gprc1d, mGluR4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
27641361-27732800 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27653649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 512
(C512Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118161]
[ENSMUST00000118489]
[ENSMUST00000231290]
[ENSMUST00000231416]
[ENSMUST00000231809]
[ENSMUST00000232243]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118161
AA Change: C767Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113819
Gene: ENSMUSG00000063239
AA Change: C767Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
482 |
1.4e-110 |
PFAM |
|
Pfam:Peripla_BP_6
|
144 |
486 |
9e-13 |
PFAM |
|
Pfam:NCD3G
|
516 |
566 |
2.4e-14 |
PFAM |
|
Pfam:7tm_3
|
599 |
844 |
7.6e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118489
AA Change: C767Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112578
Gene: ENSMUSG00000063239
AA Change: C767Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
482 |
6.2e-104 |
PFAM |
|
Pfam:Peripla_BP_6
|
144 |
486 |
8.3e-12 |
PFAM |
|
Pfam:NCD3G
|
516 |
566 |
5.4e-15 |
PFAM |
|
Pfam:7tm_3
|
597 |
817 |
1.9e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231290
AA Change: C767Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231416
AA Change: C512Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231804
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231809
AA Change: C720Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232243
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of theis gene results in impaired motor learning, and reduced paired-pulse facilitation and post-tetanic potential. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,583,316 (GRCm39) |
S291P |
probably damaging |
Het |
| Cbln3 |
T |
C |
14: 56,121,538 (GRCm39) |
E36G |
possibly damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,014,172 (GRCm39) |
F201L |
probably benign |
Het |
| Crispld1 |
A |
T |
1: 17,816,052 (GRCm39) |
R142S |
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,178,526 (GRCm39) |
M293L |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,774,150 (GRCm39) |
S362T |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,621,396 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,058,632 (GRCm39) |
T252A |
probably benign |
Het |
| Neu3 |
A |
C |
7: 99,462,614 (GRCm39) |
S370A |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,515,959 (GRCm39) |
|
probably benign |
Het |
| Or2o1 |
T |
C |
11: 49,051,198 (GRCm39) |
V119A |
possibly damaging |
Het |
| Ptk7 |
T |
C |
17: 46,887,774 (GRCm39) |
T553A |
probably benign |
Het |
| Rap2a |
T |
C |
14: 120,716,245 (GRCm39) |
I36T |
possibly damaging |
Het |
| Rinl |
A |
C |
7: 28,489,803 (GRCm39) |
D7A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,329,948 (GRCm39) |
E689G |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,064 (GRCm39) |
I560M |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Setdb2 |
G |
A |
14: 59,656,903 (GRCm39) |
T138I |
possibly damaging |
Het |
| Sgsh |
G |
T |
11: 119,246,300 (GRCm39) |
P4Q |
possibly damaging |
Het |
| Slco4a1 |
G |
T |
2: 180,108,880 (GRCm39) |
W308L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,611,863 (GRCm39) |
R17346S |
possibly damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,200,606 (GRCm39) |
R366G |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,948,408 (GRCm39) |
N551K |
probably damaging |
Het |
|
| Other mutations in Grm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Grm4
|
APN |
17 |
27,653,711 (GRCm39) |
nonsense |
probably null |
|
|
IGL02380:Grm4
|
APN |
17 |
27,653,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03244:Grm4
|
APN |
17 |
27,653,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0013:Grm4
|
UTSW |
17 |
27,650,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0352:Grm4
|
UTSW |
17 |
27,670,865 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Grm4
|
UTSW |
17 |
27,650,464 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0616:Grm4
|
UTSW |
17 |
27,653,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Grm4
|
UTSW |
17 |
27,654,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Grm4
|
UTSW |
17 |
27,657,412 (GRCm39) |
splice site |
probably benign |
|
|
R1085:Grm4
|
UTSW |
17 |
27,692,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Grm4
|
UTSW |
17 |
27,653,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Grm4
|
UTSW |
17 |
27,653,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1799:Grm4
|
UTSW |
17 |
27,691,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1914:Grm4
|
UTSW |
17 |
27,653,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3759:Grm4
|
UTSW |
17 |
27,654,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4244:Grm4
|
UTSW |
17 |
27,721,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5390:Grm4
|
UTSW |
17 |
27,653,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Grm4
|
UTSW |
17 |
27,653,772 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5516:Grm4
|
UTSW |
17 |
27,657,385 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5897:Grm4
|
UTSW |
17 |
27,654,137 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5956:Grm4
|
UTSW |
17 |
27,654,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6391:Grm4
|
UTSW |
17 |
27,654,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7330:Grm4
|
UTSW |
17 |
27,653,798 (GRCm39) |
nonsense |
probably null |
|
|
R7449:Grm4
|
UTSW |
17 |
27,654,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Grm4
|
UTSW |
17 |
27,653,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Grm4
|
UTSW |
17 |
27,657,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Grm4
|
UTSW |
17 |
27,653,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Grm4
|
UTSW |
17 |
27,653,956 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9203:Grm4
|
UTSW |
17 |
27,653,980 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9267:Grm4
|
UTSW |
17 |
27,654,183 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9292:Grm4
|
UTSW |
17 |
27,692,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Grm4
|
UTSW |
17 |
27,653,737 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9578:Grm4
|
UTSW |
17 |
27,669,183 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9746:Grm4
|
UTSW |
17 |
27,657,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Grm4
|
UTSW |
17 |
27,721,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Grm4
|
UTSW |
17 |
27,669,195 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Grm4
|
UTSW |
17 |
27,669,168 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAACTGGGAGAGGAAACC -3'
(R):5'- ATCTTTGAGCAGGGCAAGCG -3'
Sequencing Primer
(F):5'- TTTAAAGAAAGCAGCTACAGGC -3'
(R):5'- AGCTGGCCATCACCTTCG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation