Incidental Mutation 'IGL01528:Gpr45'
ID |
89625 |
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 # |
IGL01528
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
42992032-43074611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43072383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 342
(H342R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135986
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114761]
[ENSMUST00000179766]
|
AlphaFold |
Q9EQQ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114761
AA Change: H342R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000110409 Gene: ENSMUSG00000041907 AA Change: H342R
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 benign
Transcript: ENSMUST00000179766
AA Change: H342R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000135986 Gene: ENSMUSG00000041907 AA Change: H342R
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 |
AB124611 |
T |
A |
9: 21,451,190 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
A |
G |
16: 18,630,311 (GRCm39) |
F2S |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,381,403 (GRCm39) |
R598G |
possibly damaging |
Het |
Cemip2 |
T |
C |
19: 21,812,909 (GRCm39) |
V1038A |
possibly damaging |
Het |
Dusp22 |
C |
T |
13: 30,889,611 (GRCm39) |
T64I |
probably benign |
Het |
Gfer |
T |
A |
17: 24,914,903 (GRCm39) |
T47S |
probably benign |
Het |
Gfra2 |
T |
C |
14: 71,203,738 (GRCm39) |
S296P |
possibly damaging |
Het |
Gjb2 |
G |
A |
14: 57,338,125 (GRCm39) |
L28F |
probably damaging |
Het |
Gm17782 |
A |
G |
17: 36,472,682 (GRCm39) |
|
probably benign |
Het |
Gm2832 |
T |
C |
14: 41,003,670 (GRCm39) |
V167A |
unknown |
Het |
Gpr155 |
A |
G |
2: 73,192,767 (GRCm39) |
|
probably null |
Het |
Gsdmd |
A |
T |
15: 75,735,354 (GRCm39) |
T33S |
possibly damaging |
Het |
Hal |
T |
A |
10: 93,333,455 (GRCm39) |
L341Q |
probably damaging |
Het |
Igfbp7 |
T |
G |
5: 77,499,179 (GRCm39) |
D273A |
probably damaging |
Het |
Kdm2a |
T |
C |
19: 4,393,083 (GRCm39) |
D424G |
probably benign |
Het |
Kif13a |
C |
T |
13: 47,018,313 (GRCm39) |
|
probably benign |
Het |
Krt35 |
A |
T |
11: 99,985,420 (GRCm39) |
L207Q |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,809,194 (GRCm39) |
D2572E |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,322,804 (GRCm39) |
V1848A |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,686,957 (GRCm39) |
Y21H |
probably damaging |
Het |
Ncan |
G |
T |
8: 70,562,731 (GRCm39) |
A509E |
probably benign |
Het |
Or2q1 |
T |
C |
6: 42,795,208 (GRCm39) |
S268P |
probably damaging |
Het |
Pde11a |
G |
A |
2: 76,025,300 (GRCm39) |
|
probably benign |
Het |
Phf19 |
G |
T |
2: 34,787,119 (GRCm39) |
D448E |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,282,488 (GRCm39) |
V799D |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,349,634 (GRCm39) |
Y7* |
probably null |
Het |
Sema3c |
A |
G |
5: 17,919,413 (GRCm39) |
H483R |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,527,328 (GRCm39) |
|
probably benign |
Het |
St3gal1 |
C |
A |
15: 66,984,466 (GRCm39) |
R103L |
probably benign |
Het |
Tet2 |
A |
T |
3: 133,186,059 (GRCm39) |
V1126E |
possibly damaging |
Het |
Tmem117 |
A |
T |
15: 94,992,545 (GRCm39) |
I402L |
probably benign |
Het |
Ttc28 |
T |
A |
5: 111,249,826 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,702,182 (GRCm39) |
|
probably benign |
Het |
Vmn1r7 |
T |
A |
6: 57,001,532 (GRCm39) |
M243L |
probably benign |
Het |
Wnt1 |
G |
T |
15: 98,689,714 (GRCm39) |
W167L |
probably damaging |
Het |
Zfp553 |
G |
T |
7: 126,835,387 (GRCm39) |
S314I |
probably damaging |
Het |
Zranb2 |
T |
C |
3: 157,250,602 (GRCm39) |
|
probably benign |
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 |
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 |
2013-12-03 |