Incidental Mutation 'IGL00508:Gpr45'
ID |
11114 |
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 # |
IGL00508
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
42992032-43074611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43071452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 32
(P32S)
|
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: P32S
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110409 Gene: ENSMUSG00000041907 AA Change: P32S
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: P32S
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000135986 Gene: ENSMUSG00000041907 AA Change: P32S
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
C |
13: 81,654,306 (GRCm39) |
D2188E |
probably damaging |
Het |
Atrx |
A |
G |
X: 104,867,405 (GRCm39) |
S2026P |
probably damaging |
Het |
Cacna1b |
A |
C |
2: 24,547,301 (GRCm39) |
|
probably null |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,438,367 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
G |
2: 91,436,601 (GRCm39) |
V1567G |
probably damaging |
Het |
Cyp2c38 |
A |
T |
19: 39,449,169 (GRCm39) |
Y61* |
probably null |
Het |
D130052B06Rik |
A |
G |
11: 33,549,402 (GRCm39) |
E7G |
unknown |
Het |
Dhx38 |
A |
G |
8: 110,283,566 (GRCm39) |
L527P |
possibly damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,163,701 (GRCm39) |
N653D |
probably benign |
Het |
Dnah8 |
T |
G |
17: 31,074,904 (GRCm39) |
M4541R |
probably damaging |
Het |
Dpyd |
A |
T |
3: 118,858,636 (GRCm39) |
T617S |
probably benign |
Het |
Fpr2 |
A |
T |
17: 18,113,034 (GRCm39) |
N10I |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,599,545 (GRCm39) |
K524* |
probably null |
Het |
H2-Eb2 |
A |
T |
17: 34,553,341 (GRCm39) |
I176F |
probably damaging |
Het |
Hcrtr1 |
T |
A |
4: 130,031,062 (GRCm39) |
N74I |
probably damaging |
Het |
Ifi47 |
C |
T |
11: 48,986,241 (GRCm39) |
Q3* |
probably null |
Het |
Krt8 |
T |
A |
15: 101,906,460 (GRCm39) |
M350L |
probably benign |
Het |
Lilra6 |
A |
G |
7: 3,914,553 (GRCm39) |
S533P |
probably benign |
Het |
Map1b |
A |
T |
13: 99,565,741 (GRCm39) |
S2327T |
unknown |
Het |
Mcoln3 |
T |
A |
3: 145,839,683 (GRCm39) |
I345N |
probably damaging |
Het |
Mettl3 |
C |
A |
14: 52,532,436 (GRCm39) |
|
probably benign |
Het |
Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
Micall1 |
A |
G |
15: 79,014,768 (GRCm39) |
K715E |
probably damaging |
Het |
Pak1 |
G |
T |
7: 97,503,775 (GRCm39) |
G37C |
probably benign |
Het |
Pomt2 |
T |
G |
12: 87,166,401 (GRCm39) |
H426P |
probably damaging |
Het |
Pou2f3 |
G |
A |
9: 43,051,258 (GRCm39) |
P155S |
probably benign |
Het |
Psg25 |
A |
G |
7: 18,263,656 (GRCm39) |
Y56H |
probably benign |
Het |
Rab9 |
G |
T |
X: 165,240,860 (GRCm39) |
Y150* |
probably null |
Het |
Rhox2g |
T |
A |
X: 36,824,463 (GRCm39) |
N152I |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,498,844 (GRCm39) |
|
probably benign |
Het |
Simc1 |
C |
A |
13: 54,672,989 (GRCm39) |
Q446K |
probably benign |
Het |
Svs5 |
G |
T |
2: 164,078,962 (GRCm39) |
T315K |
possibly damaging |
Het |
Syt9 |
C |
T |
7: 107,024,574 (GRCm39) |
R156* |
probably null |
Het |
Tmem260 |
A |
T |
14: 48,746,578 (GRCm39) |
Y618F |
probably damaging |
Het |
Wdr44 |
A |
G |
X: 23,666,783 (GRCm39) |
I719V |
possibly damaging |
Het |
Zfp518a |
T |
G |
19: 40,901,914 (GRCm39) |
I614M |
probably damaging |
Het |
|
Other mutations in Gpr45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |