Incidental Mutation 'IGL03017:Gpr45'
| ID |
407929 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr45
|
| Ensembl Gene |
ENSMUSG00000041907 |
| Gene Name |
G protein-coupled receptor 45 |
| Synonyms |
9230112G11Rik, PSP24alpha |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
IGL03017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
42992032-43074611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43071516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 53
(T53M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114761]
[ENSMUST00000179766]
|
| AlphaFold |
Q9EQQ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114761
AA Change: T53M
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110409
Gene: ENSMUSG00000041907
AA Change: T53M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
42 |
188 |
5.5e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
45 |
340 |
1.9e-7 |
PFAM |
|
Pfam:7tm_1
|
51 |
325 |
2.4e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179655
|
| SMART Domains |
Protein: ENSMUSP00000136725
Gene: ENSMUSG00000096364
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179766
AA Change: T53M
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135986
Gene: ENSMUSG00000041907
AA Change: T53M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
42 |
189 |
7.1e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
45 |
340 |
1.9e-7 |
PFAM |
|
Pfam:7tm_1
|
51 |
325 |
2.1e-51 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
C |
A |
3: 87,624,367 (GRCm39) |
Y519* |
probably null |
Het |
| Arhgef26 |
T |
A |
3: 62,355,702 (GRCm39) |
M758K |
possibly damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,978 (GRCm39) |
Y500C |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,555,785 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
C |
15: 28,340,471 (GRCm39) |
I2293L |
possibly damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Hoxd3 |
T |
A |
2: 74,577,050 (GRCm39) |
M310K |
possibly damaging |
Het |
| Mtr |
A |
G |
13: 12,262,777 (GRCm39) |
|
probably null |
Het |
| Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo1d |
C |
T |
11: 80,492,452 (GRCm39) |
V768I |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,087,679 (GRCm39) |
C771R |
probably benign |
Het |
| Or1e30 |
C |
A |
11: 73,678,344 (GRCm39) |
H193Q |
probably benign |
Het |
| Patj |
G |
A |
4: 98,353,264 (GRCm39) |
|
probably benign |
Het |
| Pkp3 |
C |
A |
7: 140,663,283 (GRCm39) |
A376D |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,096,769 (GRCm39) |
V57A |
probably benign |
Het |
| Poteg |
A |
T |
8: 27,952,069 (GRCm39) |
K232N |
probably benign |
Het |
| Psat1 |
G |
T |
19: 15,894,499 (GRCm39) |
A168E |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,762,924 (GRCm39) |
|
probably null |
Het |
| Slc37a3 |
T |
A |
6: 39,326,315 (GRCm39) |
I281L |
probably benign |
Het |
| Sncaip |
A |
T |
18: 53,028,009 (GRCm39) |
H466L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,698,646 (GRCm39) |
T30A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,460 (GRCm39) |
E16337G |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,969,861 (GRCm39) |
M662I |
possibly damaging |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,839 (GRCm39) |
M389K |
probably damaging |
Het |
| Vmn2r39 |
A |
C |
7: 9,017,940 (GRCm39) |
Y799D |
probably damaging |
Het |
|
| Other mutations in Gpr45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Gpr45
|
APN |
1 |
43,071,452 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01528:Gpr45
|
APN |
1 |
43,072,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01833:Gpr45
|
APN |
1 |
43,071,402 (GRCm39) |
missense |
probably benign |
|
|
IGL02034:Gpr45
|
APN |
1 |
43,072,478 (GRCm39) |
makesense |
probably null |
|
|
IGL02230:Gpr45
|
APN |
1 |
43,071,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02279:Gpr45
|
APN |
1 |
43,071,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02394:Gpr45
|
APN |
1 |
43,069,272 (GRCm39) |
intron |
probably benign |
|
|
IGL02795:Gpr45
|
APN |
1 |
43,071,653 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02902:Gpr45
|
APN |
1 |
43,072,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
expansive
|
UTSW |
1 |
43,071,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
extensive
|
UTSW |
1 |
43,072,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
omnipresent
|
UTSW |
1 |
43,071,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Gpr45
|
UTSW |
1 |
43,072,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Gpr45
|
UTSW |
1 |
43,071,668 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2965:Gpr45
|
UTSW |
1 |
43,071,668 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2966:Gpr45
|
UTSW |
1 |
43,071,668 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4551:Gpr45
|
UTSW |
1 |
43,071,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4681:Gpr45
|
UTSW |
1 |
43,072,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4821:Gpr45
|
UTSW |
1 |
43,069,613 (GRCm39) |
intron |
probably benign |
|
|
R4966:Gpr45
|
UTSW |
1 |
43,072,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5054:Gpr45
|
UTSW |
1 |
43,071,809 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5319:Gpr45
|
UTSW |
1 |
43,071,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5667:Gpr45
|
UTSW |
1 |
43,072,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Gpr45
|
UTSW |
1 |
43,072,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Gpr45
|
UTSW |
1 |
43,071,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Gpr45
|
UTSW |
1 |
43,072,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Gpr45
|
UTSW |
1 |
43,071,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8752:Gpr45
|
UTSW |
1 |
43,071,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8927:Gpr45
|
UTSW |
1 |
43,072,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8928:Gpr45
|
UTSW |
1 |
43,072,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9316:Gpr45
|
UTSW |
1 |
43,071,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation