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 |
PSP24alpha, 9230112G11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
IGL02230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
42952872-43035456 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43032656 bp (GRCm38)
|
| 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: 80,171,830 (GRCm38) |
T727S |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,433,996 (GRCm38) |
I374F |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,152,194 (GRCm38) |
N399S |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,623,928 (GRCm38) |
E317G |
probably damaging |
Het |
| Gm10030 |
T |
A |
9: 111,006,390 (GRCm38) |
|
noncoding transcript |
Het |
| Gm4884 |
A |
T |
7: 41,043,405 (GRCm38) |
Q266L |
probably damaging |
Het |
| Hc |
A |
G |
2: 35,013,670 (GRCm38) |
F991L |
probably benign |
Het |
| Hif1a |
T |
G |
12: 73,932,450 (GRCm38) |
D249E |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 94,045,398 (GRCm38) |
L194P |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,518,645 (GRCm38) |
S947P |
probably damaging |
Het |
| Kng1 |
G |
T |
16: 23,060,494 (GRCm38) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,762,145 (GRCm38) |
R204W |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,880 (GRCm38) |
K245N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,655,423 (GRCm38) |
R335* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,377,361 (GRCm38) |
|
probably benign |
Het |
| Ncbp1 |
C |
A |
4: 46,165,272 (GRCm38) |
N528K |
probably benign |
Het |
| Olfr57 |
T |
A |
10: 79,035,042 (GRCm38) |
M82K |
probably damaging |
Het |
| Olfr714 |
A |
G |
7: 107,074,493 (GRCm38) |
I222V |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,881,206 (GRCm38) |
L364P |
probably damaging |
Het |
| R3hdm4 |
C |
A |
10: 79,912,091 (GRCm38) |
A206S |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 91,988,026 (GRCm38) |
I589T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,110,728 (GRCm38) |
S764N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,354 (GRCm38) |
E24G |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,709,034 (GRCm38) |
I815V |
possibly damaging |
Het |
| Serpina16 |
A |
G |
12: 103,675,302 (GRCm38) |
Y55H |
probably damaging |
Het |
| Sirt2 |
C |
T |
7: 28,778,946 (GRCm38) |
R83C |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,681,971 (GRCm38) |
|
probably null |
Het |
| Stmn1 |
A |
G |
4: 134,472,913 (GRCm38) |
E99G |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,037,056 (GRCm38) |
I16V |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,619,627 (GRCm38) |
K334E |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,581,369 (GRCm38) |
I876T |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,317,563 (GRCm38) |
V289D |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,396,810 (GRCm38) |
R265* |
probably null |
Het |
|
| Other mutations in Gpr45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Gpr45
|
APN |
1 |
43,032,292 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01528:Gpr45
|
APN |
1 |
43,033,223 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01833:Gpr45
|
APN |
1 |
43,032,242 (GRCm38) |
missense |
probably benign |
|
|
IGL02034:Gpr45
|
APN |
1 |
43,033,318 (GRCm38) |
makesense |
probably null |
|
|
IGL02279:Gpr45
|
APN |
1 |
43,032,838 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02394:Gpr45
|
APN |
1 |
43,030,112 (GRCm38) |
intron |
probably benign |
|
|
IGL02795:Gpr45
|
APN |
1 |
43,032,493 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02902:Gpr45
|
APN |
1 |
43,033,211 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL03017:Gpr45
|
APN |
1 |
43,032,356 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
expansive
|
UTSW |
1 |
43,032,838 (GRCm38) |
missense |
probably damaging |
0.96 |
|
extensive
|
UTSW |
1 |
43,033,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
omnipresent
|
UTSW |
1 |
43,032,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0368:Gpr45
|
UTSW |
1 |
43,033,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2964:Gpr45
|
UTSW |
1 |
43,032,508 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2965:Gpr45
|
UTSW |
1 |
43,032,508 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2966:Gpr45
|
UTSW |
1 |
43,032,508 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4551:Gpr45
|
UTSW |
1 |
43,032,790 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4681:Gpr45
|
UTSW |
1 |
43,032,908 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4821:Gpr45
|
UTSW |
1 |
43,030,453 (GRCm38) |
intron |
probably benign |
|
|
R4966:Gpr45
|
UTSW |
1 |
43,033,120 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5054:Gpr45
|
UTSW |
1 |
43,032,649 (GRCm38) |
missense |
probably benign |
0.38 |
|
R5319:Gpr45
|
UTSW |
1 |
43,032,838 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5667:Gpr45
|
UTSW |
1 |
43,033,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5671:Gpr45
|
UTSW |
1 |
43,033,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7250:Gpr45
|
UTSW |
1 |
43,032,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8117:Gpr45
|
UTSW |
1 |
43,033,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8393:Gpr45
|
UTSW |
1 |
43,032,235 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8752:Gpr45
|
UTSW |
1 |
43,032,682 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8927:Gpr45
|
UTSW |
1 |
43,033,154 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8928:Gpr45
|
UTSW |
1 |
43,033,154 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9316:Gpr45
|
UTSW |
1 |
43,032,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation