Incidental Mutation 'IGL02230:Gpr45'
| ID |
285653 |
| 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: 0.171)
|
| Stock # |
IGL02230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
42992032-43074611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43071816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 153
(A153E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114761]
[ENSMUST00000179766]
|
| AlphaFold |
Q9EQQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114761
AA Change: A153E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110409
Gene: ENSMUSG00000041907
AA Change: A153E
| 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 |
probably damaging
Transcript: ENSMUST00000179766
AA Change: A153E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135986
Gene: ENSMUSG00000041907
AA Change: A153E
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,218,604 (GRCm39) |
T727S |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,193 (GRCm39) |
I374F |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,079,916 (GRCm39) |
N399S |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,190 (GRCm39) |
E317G |
probably damaging |
Het |
| Gm10030 |
T |
A |
9: 110,835,458 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4884 |
A |
T |
7: 40,692,829 (GRCm39) |
Q266L |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,903,682 (GRCm39) |
F991L |
probably benign |
Het |
| Hif1a |
T |
G |
12: 73,979,224 (GRCm39) |
D249E |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,743 (GRCm39) |
L194P |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,245,956 (GRCm39) |
S947P |
probably damaging |
Het |
| Kng1 |
G |
T |
16: 22,879,244 (GRCm39) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,879 (GRCm39) |
K245N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,702,197 (GRCm39) |
R335* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,614,801 (GRCm39) |
|
probably benign |
Het |
| Ncbp1 |
C |
A |
4: 46,165,272 (GRCm39) |
N528K |
probably benign |
Het |
| Or10a2 |
A |
G |
7: 106,673,700 (GRCm39) |
I222V |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,870,876 (GRCm39) |
M82K |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,772,032 (GRCm39) |
L364P |
probably damaging |
Het |
| R3hdm4 |
C |
A |
10: 79,747,925 (GRCm39) |
A206S |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,136,145 (GRCm39) |
I589T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,354 (GRCm39) |
E24G |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,599,861 (GRCm39) |
I815V |
possibly damaging |
Het |
| Serpina16 |
A |
G |
12: 103,641,561 (GRCm39) |
Y55H |
probably damaging |
Het |
| Sirt2 |
C |
T |
7: 28,478,371 (GRCm39) |
R83C |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,752,195 (GRCm39) |
|
probably null |
Het |
| Stmn1 |
A |
G |
4: 134,200,224 (GRCm39) |
E99G |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,014,019 (GRCm39) |
I16V |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,927,056 (GRCm39) |
K334E |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,417,233 (GRCm39) |
I876T |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,807,591 (GRCm39) |
V289D |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
|
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 |
|
IGL03017:Gpr45
|
APN |
1 |
43,071,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2015-04-16 |
Incidental Mutation