Incidental Mutation 'R3760:Gpr83'
ID |
270505 |
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 |
040740-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R3760 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14771506-14782085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 14772034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 69
(T69S)
|
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: T69S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000034408 Gene: ENSMUSG00000031932 AA Change: T69S
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: T69S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000111287 Gene: ENSMUSG00000031932 AA Change: T69S
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 |
0.0631 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (33/33) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
T |
C |
3: 148,522,871 (GRCm39) |
E1448G |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
Ell2 |
A |
T |
13: 75,910,281 (GRCm39) |
Q163L |
probably benign |
Het |
Epha6 |
T |
A |
16: 60,041,347 (GRCm39) |
T423S |
possibly damaging |
Het |
Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
Gramd1c |
A |
T |
16: 43,818,154 (GRCm39) |
M342K |
probably damaging |
Het |
H3c7 |
T |
C |
13: 23,728,985 (GRCm39) |
C111R |
probably damaging |
Het |
Idua |
T |
C |
5: 108,817,978 (GRCm39) |
|
probably benign |
Het |
Kcnh1 |
T |
C |
1: 192,188,332 (GRCm39) |
L931P |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,478,077 (GRCm39) |
S470T |
probably damaging |
Het |
Map7 |
T |
C |
10: 20,152,027 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,919,406 (GRCm39) |
L6213P |
probably damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,250 (GRCm39) |
L212P |
probably damaging |
Het |
Or8k38 |
G |
A |
2: 86,488,232 (GRCm39) |
S190L |
possibly damaging |
Het |
Pcnx4 |
C |
T |
12: 72,613,780 (GRCm39) |
T575M |
probably damaging |
Het |
Ppp1r12a |
A |
G |
10: 108,100,595 (GRCm39) |
D348G |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,520,420 (GRCm39) |
N730S |
probably damaging |
Het |
Serpinb3d |
C |
T |
1: 107,009,304 (GRCm39) |
|
probably benign |
Het |
Skint6 |
T |
C |
4: 112,794,655 (GRCm39) |
T705A |
possibly damaging |
Het |
Slc6a20a |
A |
G |
9: 123,492,054 (GRCm39) |
I50T |
probably damaging |
Het |
Taf13 |
T |
C |
3: 108,485,424 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
T |
14: 50,599,700 (GRCm39) |
E562V |
probably damaging |
Het |
Uhrf2 |
T |
C |
19: 30,051,331 (GRCm39) |
S302P |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,058,964 (GRCm39) |
L1036Q |
probably damaging |
Het |
Vmn1r85 |
A |
T |
7: 12,818,932 (GRCm39) |
S71T |
probably damaging |
Het |
Vmn2r-ps158 |
G |
A |
7: 42,673,502 (GRCm39) |
E187K |
probably benign |
Het |
Vps52 |
T |
C |
17: 34,179,162 (GRCm39) |
F200L |
possibly damaging |
Het |
Zfp521 |
T |
C |
18: 13,977,686 (GRCm39) |
H909R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTGCCTAGAGCTGCAGTG -3'
(R):5'- CGTGTTGAGCAATGTGATCATG -3'
Sequencing Primer
(F):5'- GCTGGACATGAAGGTTCCTC -3'
(R):5'- AATGTGATCATGATGTCCGCCAC -3'
|
Posted On |
2015-03-18 |