Incidental Mutation 'R4038:Gpr83'
ID |
313799 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr83
|
Ensembl Gene |
ENSMUSG00000031932 |
Gene Name |
G protein-coupled receptor 83 |
Synonyms |
RP39, glucocorticoid-induced receptor, GIR, Gir, Gpr72, RP105, RP82 |
MMRRC Submission |
040965-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R4038 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14771506-14782085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14772073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 82
(I82V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034408]
[ENSMUST00000115624]
|
AlphaFold |
P30731 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034408
AA Change: I82V
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000034408 Gene: ENSMUSG00000031932 AA Change: I82V
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 |
possibly damaging
Transcript: ENSMUST00000115624
AA Change: I82V
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000111287 Gene: ENSMUSG00000031932 AA Change: I82V
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
|
Meta Mutation Damage Score |
0.1910 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
Validation Efficiency |
93% (39/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
Het |
|
Other mutations in Gpr83 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00579:Gpr83
|
APN |
9 |
14,771,897 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTGGACATGAAGGTTCC -3'
(R):5'- TTCAGGAGAAGAGACAGCCC -3'
Sequencing Primer
(F):5'- TCCTCAGTGCGAGCTACTGAG -3'
(R):5'- AAGAGACAGCCCGGGAG -3'
|
Posted On |
2015-04-30 |