Incidental Mutation 'S24628:Gpr183'
| ID |
385669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr183
|
| Ensembl Gene |
ENSMUSG00000051212 |
| Gene Name |
G protein-coupled receptor 183 |
| Synonyms |
Ebi2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
S24628 ()
of strain
waterfowl
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
122189963-122202607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 122191888 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 211
(C211F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039803]
[ENSMUST00000049872]
[ENSMUST00000226998]
[ENSMUST00000227267]
|
| AlphaFold |
Q3U6B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039803
|
| SMART Domains |
Protein: ENSMUSP00000043245
Gene: ENSMUSG00000041765
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
129 |
151 |
N/A |
INTRINSIC |
|
transmembrane domain
|
164 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
269 |
N/A |
INTRINSIC |
|
UBA
|
307 |
344 |
1.11e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049872
AA Change: C211F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052404
Gene: ENSMUSG00000051212
AA Change: C211F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
35 |
167 |
4.6e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
319 |
4e-10 |
PFAM |
|
Pfam:7tm_1
|
44 |
304 |
1.4e-47 |
PFAM |
|
low complexity region
|
323 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227936
|
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to altered B cell migration during immune activation. Mice homozygous for a null allele exhibit decreased plasmacytoid and myeloid dendritic cell number, and increased type I interferon responses upon TLR ligand challenge or viral infection. [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 |
|---|
| Adgre4 |
G |
A |
17: 56,159,288 (GRCm39) |
V658I |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,122,944 (GRCm39) |
Y249H |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Homo |
| Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
| Lcp1 |
A |
T |
14: 75,464,446 (GRCm39) |
I556F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,904,788 (GRCm39) |
P513S |
probably benign |
Het |
| Letm1 |
G |
A |
5: 33,904,790 (GRCm39) |
P512L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,483,294 (GRCm39) |
V283A |
possibly damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,782 (GRCm39) |
I213F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,399 (GRCm39) |
H191L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm39) |
A120V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,419 (GRCm39) |
Y609C |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,318 (GRCm39) |
H104Y |
probably benign |
Homo |
| Rnf213 |
A |
T |
11: 119,305,295 (GRCm39) |
I509F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,884,042 (GRCm39) |
S213G |
probably damaging |
Homo |
| Spint1 |
A |
G |
2: 119,076,096 (GRCm39) |
T231A |
probably damaging |
Het |
| Tbcel |
C |
A |
9: 42,355,796 (GRCm39) |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,900,235 (GRCm39) |
S573A |
probably benign |
Het |
| Tmem43 |
C |
A |
6: 91,459,300 (GRCm39) |
P257Q |
probably benign |
Homo |
| Tmprss13 |
A |
G |
9: 45,248,430 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,936,249 (GRCm39) |
G229D |
probably damaging |
Homo |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,478,006 (GRCm39) |
V215D |
probably damaging |
Homo |
| Vmn1r22 |
G |
T |
6: 57,877,317 (GRCm39) |
T220K |
probably benign |
Homo |
| Vmn2r116 |
G |
A |
17: 23,606,253 (GRCm39) |
M388I |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,809,892 (GRCm39) |
M1V |
probably null |
Homo |
| Zfp282 |
A |
G |
6: 47,874,815 (GRCm39) |
D340G |
probably damaging |
Homo |
| Zfp282 |
T |
A |
6: 47,881,987 (GRCm39) |
I558N |
possibly damaging |
Homo |
|
| Other mutations in Gpr183 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1653:Gpr183
|
UTSW |
14 |
122,191,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Gpr183
|
UTSW |
14 |
122,192,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2186:Gpr183
|
UTSW |
14 |
122,191,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2422:Gpr183
|
UTSW |
14 |
122,191,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Gpr183
|
UTSW |
14 |
122,192,262 (GRCm39) |
nonsense |
probably null |
|
|
R4630:Gpr183
|
UTSW |
14 |
122,192,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Gpr183
|
UTSW |
14 |
122,192,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Gpr183
|
UTSW |
14 |
122,192,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Gpr183
|
UTSW |
14 |
122,192,275 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5119:Gpr183
|
UTSW |
14 |
122,192,275 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5382:Gpr183
|
UTSW |
14 |
122,192,333 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6952:Gpr183
|
UTSW |
14 |
122,191,897 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7426:Gpr183
|
UTSW |
14 |
122,192,156 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7682:Gpr183
|
UTSW |
14 |
122,192,152 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7722:Gpr183
|
UTSW |
14 |
122,192,270 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGAAGTGCAGAGAGATCTG -3'
(R):5'- GGTCTTTGCTCAAACACTGC -3'
Sequencing Primer
(F):5'- ATCTGGAAGGAATGTCTCGCC -3'
(R):5'- TGCTCAAACACTGCCGCTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation