Incidental Mutation 'IGL00579:Gpr83'
ID |
4935 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr83
|
Ensembl Gene |
ENSMUSG00000031932 |
Gene Name |
G protein-coupled receptor 83 |
Synonyms |
RP39, glucocorticoid-induced receptor, GIR, Gir, Gpr72, RP105, RP82 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
IGL00579
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
14771506-14782085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14771897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 23
(V23A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034408]
[ENSMUST00000115624]
|
AlphaFold |
P30731 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034408
AA Change: V23A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034408 Gene: ENSMUSG00000031932 AA Change: V23A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:7tm_4
|
78 |
271 |
2.4e-8 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
82 |
360 |
6.6e-16 |
PFAM |
Pfam:7tm_1
|
88 |
345 |
9e-52 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115624
AA Change: V23A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000111287 Gene: ENSMUSG00000031932 AA Change: V23A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
88 |
133 |
1.1e-10 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
128 |
318 |
1.8e-6 |
PFAM |
Pfam:7tm_1
|
129 |
303 |
1.4e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133278
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit normal regulatory T cell development. Mice homozygous for a different targeted allele exhibit attenuated stress-evoked anxiety, increased sucrose preference and delayed spatial learning. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
T |
C |
5: 24,773,794 (GRCm39) |
E365G |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,152,100 (GRCm39) |
Y197H |
probably benign |
Het |
Cept1 |
A |
T |
3: 106,413,119 (GRCm39) |
V202E |
possibly damaging |
Het |
Cfap53 |
A |
T |
18: 74,438,611 (GRCm39) |
K263* |
probably null |
Het |
Dennd3 |
T |
C |
15: 73,412,691 (GRCm39) |
I451T |
possibly damaging |
Het |
Dync2h1 |
A |
C |
9: 7,035,728 (GRCm39) |
|
probably benign |
Het |
Egf |
T |
A |
3: 129,491,447 (GRCm39) |
H850L |
probably benign |
Het |
Gm11595 |
T |
C |
11: 99,662,868 (GRCm39) |
T271A |
unknown |
Het |
Gorab |
T |
C |
1: 163,222,256 (GRCm39) |
E142G |
probably damaging |
Het |
Gpat4 |
A |
G |
8: 23,672,791 (GRCm39) |
S20P |
probably damaging |
Het |
Il13ra2 |
A |
G |
X: 146,177,386 (GRCm39) |
Y146H |
probably damaging |
Het |
Kcnj16 |
C |
T |
11: 110,916,034 (GRCm39) |
T232M |
probably benign |
Het |
Mdfic |
A |
T |
6: 15,741,073 (GRCm39) |
I61F |
possibly damaging |
Het |
Mmp3 |
G |
T |
9: 7,445,894 (GRCm39) |
|
probably benign |
Het |
Olr1 |
C |
T |
6: 129,470,486 (GRCm39) |
R227K |
probably benign |
Het |
Otof |
T |
A |
5: 30,556,666 (GRCm39) |
I257F |
possibly damaging |
Het |
Oxsr1 |
T |
A |
9: 119,088,277 (GRCm39) |
R43S |
probably damaging |
Het |
Pacc1 |
T |
C |
1: 191,060,405 (GRCm39) |
V21A |
unknown |
Het |
Prkdc |
A |
G |
16: 15,482,103 (GRCm39) |
D382G |
probably damaging |
Het |
Slc35b2 |
G |
T |
17: 45,875,886 (GRCm39) |
V81L |
probably damaging |
Het |
Thumpd3 |
G |
A |
6: 113,024,622 (GRCm39) |
R72H |
possibly damaging |
Het |
Tsga10 |
G |
A |
1: 37,874,534 (GRCm39) |
T117I |
probably damaging |
Het |
Vps13a |
T |
A |
19: 16,684,726 (GRCm39) |
T953S |
probably benign |
Het |
Wdr62 |
A |
C |
7: 29,967,320 (GRCm39) |
C311W |
probably damaging |
Het |
Wdr74 |
A |
G |
19: 8,716,830 (GRCm39) |
T247A |
possibly damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,454 (GRCm39) |
V194D |
possibly damaging |
Het |
Zfp639 |
A |
T |
3: 32,574,626 (GRCm39) |
E417V |
probably damaging |
Het |
|
Other mutations in Gpr83 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
bland
|
UTSW |
9 |
14,778,279 (GRCm39) |
critical splice donor site |
probably null |
|
R0243:Gpr83
|
UTSW |
9 |
14,776,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0349:Gpr83
|
UTSW |
9 |
14,779,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R0731:Gpr83
|
UTSW |
9 |
14,779,940 (GRCm39) |
missense |
probably benign |
0.00 |
R1519:Gpr83
|
UTSW |
9 |
14,779,493 (GRCm39) |
missense |
probably null |
1.00 |
R1678:Gpr83
|
UTSW |
9 |
14,778,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Gpr83
|
UTSW |
9 |
14,779,629 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1827:Gpr83
|
UTSW |
9 |
14,779,629 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1828:Gpr83
|
UTSW |
9 |
14,779,629 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2938:Gpr83
|
UTSW |
9 |
14,776,167 (GRCm39) |
missense |
probably benign |
0.23 |
R3760:Gpr83
|
UTSW |
9 |
14,772,034 (GRCm39) |
missense |
probably benign |
0.03 |
R4038:Gpr83
|
UTSW |
9 |
14,772,073 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4438:Gpr83
|
UTSW |
9 |
14,776,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R4657:Gpr83
|
UTSW |
9 |
14,778,279 (GRCm39) |
critical splice donor site |
probably null |
|
R4731:Gpr83
|
UTSW |
9 |
14,777,470 (GRCm39) |
intron |
probably benign |
|
R5150:Gpr83
|
UTSW |
9 |
14,772,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R7770:Gpr83
|
UTSW |
9 |
14,778,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |