Incidental Mutation 'R0368:Gpr45'
ID |
30302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr45
|
Ensembl Gene |
ENSMUSG00000041907 |
Gene Name |
G protein-coupled receptor 45 |
Synonyms |
9230112G11Rik, PSP24alpha |
MMRRC Submission |
038574-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R0368 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
42992032-43074611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43072176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 273
(L273P)
|
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: L273P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110409 Gene: ENSMUSG00000041907 AA Change: L273P
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: L273P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135986 Gene: ENSMUSG00000041907 AA Change: L273P
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 |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
T |
19: 8,985,714 (GRCm39) |
K2333* |
probably null |
Het |
Aox4 |
C |
T |
1: 58,252,238 (GRCm39) |
L38F |
probably benign |
Het |
Arhgef15 |
T |
C |
11: 68,845,519 (GRCm39) |
E111G |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,097,661 (GRCm39) |
I789N |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,937,796 (GRCm39) |
S286P |
possibly damaging |
Het |
Chrnb1 |
T |
A |
11: 69,675,583 (GRCm39) |
K457M |
probably damaging |
Het |
Cimip2a |
T |
A |
2: 25,110,685 (GRCm39) |
D164E |
probably benign |
Het |
Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
Cyb5r3 |
G |
A |
15: 83,042,993 (GRCm39) |
A233V |
probably benign |
Het |
Cyp4a10 |
T |
A |
4: 115,382,574 (GRCm39) |
L278* |
probably null |
Het |
Dnmt1 |
T |
C |
9: 20,853,053 (GRCm39) |
E56G |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,775,973 (GRCm39) |
|
probably null |
Het |
Fhip2a |
A |
G |
19: 57,357,010 (GRCm39) |
T34A |
possibly damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gabrr3 |
A |
G |
16: 59,260,959 (GRCm39) |
D289G |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,247,486 (GRCm39) |
E125G |
probably null |
Het |
Il25 |
A |
G |
14: 55,172,631 (GRCm39) |
|
probably null |
Het |
Itfg1 |
A |
T |
8: 86,491,036 (GRCm39) |
W298R |
probably damaging |
Het |
Kank1 |
A |
T |
19: 25,387,967 (GRCm39) |
K547* |
probably null |
Het |
Lama5 |
G |
A |
2: 179,823,023 (GRCm39) |
R2748* |
probably null |
Het |
Lrp4 |
C |
T |
2: 91,308,079 (GRCm39) |
T508I |
probably damaging |
Het |
Map3k10 |
C |
T |
7: 27,362,785 (GRCm39) |
V434I |
probably damaging |
Het |
Map3k6 |
A |
G |
4: 132,979,970 (GRCm39) |
M1265V |
probably benign |
Het |
Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
Msh4 |
T |
A |
3: 153,594,462 (GRCm39) |
Y113F |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Nrip1 |
A |
G |
16: 76,090,904 (GRCm39) |
S218P |
probably damaging |
Het |
Olig1 |
C |
T |
16: 91,067,540 (GRCm39) |
S259F |
probably damaging |
Het |
Or4k37 |
T |
C |
2: 111,159,132 (GRCm39) |
Y123H |
probably damaging |
Het |
Or4k41 |
T |
C |
2: 111,280,133 (GRCm39) |
I216T |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,924,129 (GRCm39) |
V499A |
probably damaging |
Het |
Pafah2 |
T |
C |
4: 134,149,802 (GRCm39) |
V371A |
probably benign |
Het |
Pkp1 |
T |
A |
1: 135,803,421 (GRCm39) |
M712L |
probably benign |
Het |
Pkp1 |
T |
C |
1: 135,814,590 (GRCm39) |
S244G |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,718,959 (GRCm39) |
T652A |
probably benign |
Het |
Rab21 |
A |
T |
10: 115,134,795 (GRCm39) |
V108E |
probably damaging |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Sema5b |
T |
A |
16: 35,448,470 (GRCm39) |
V82E |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Slc13a2 |
A |
T |
11: 78,295,626 (GRCm39) |
L80* |
probably null |
Het |
Slc1a5 |
C |
T |
7: 16,516,103 (GRCm39) |
P93L |
probably damaging |
Het |
Slc35b2 |
T |
C |
17: 45,877,389 (GRCm39) |
V172A |
probably benign |
Het |
Slfn8 |
A |
G |
11: 82,907,958 (GRCm39) |
L195P |
probably damaging |
Het |
Smox |
G |
A |
2: 131,364,078 (GRCm39) |
S320N |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,883,927 (GRCm39) |
V589A |
probably benign |
Het |
Stim2 |
G |
A |
5: 54,267,482 (GRCm39) |
|
probably null |
Het |
V1ra8 |
A |
G |
6: 90,179,944 (GRCm39) |
D49G |
probably damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,869 (GRCm39) |
V27D |
possibly damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,286,089 (GRCm39) |
K196* |
probably null |
Het |
Wdr77 |
T |
C |
3: 105,869,382 (GRCm39) |
|
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCTCAATACGGTGCGGAAGAAC -3'
(R):5'- CGTTGCACACATAGATGGTGCTTG -3'
Sequencing Primer
(F):5'- TGCGGAAGAACGCTGTC -3'
(R):5'- GATCCGCTCAGGCACTTTAG -3'
|
Posted On |
2013-04-24 |