Incidental Mutation 'R1289:Gpr75'
| ID |
150738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr75
|
| Ensembl Gene |
ENSMUSG00000043999 |
| Gene Name |
G protein-coupled receptor 75 |
| Synonyms |
|
| MMRRC Submission |
039355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1289 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30835358-30843729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30842706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 537
(I537T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109430]
[ENSMUST00000203878]
|
| AlphaFold |
Q6X632 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109430
AA Change: I537T
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105057
Gene: ENSMUSG00000043999
AA Change: I537T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
59 |
376 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203878
|
| SMART Domains |
Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
ANK
|
48 |
77 |
3.5e-2 |
SMART |
|
ANK
|
81 |
110 |
8e-3 |
SMART |
|
ANK
|
117 |
146 |
4.8e-5 |
SMART |
|
ANK
|
150 |
179 |
1.7e-7 |
SMART |
|
ANK
|
184 |
213 |
1.8e-4 |
SMART |
|
ANK
|
217 |
246 |
1.8e-6 |
SMART |
|
ANK
|
250 |
279 |
1.2e-7 |
SMART |
|
ANK
|
285 |
315 |
1.1e0 |
SMART |
|
ANK
|
318 |
347 |
1.2e-3 |
SMART |
|
ANK
|
354 |
385 |
7.7e-1 |
SMART |
|
SOCS
|
493 |
542 |
2.8e-4 |
SMART |
|
SOCS_box
|
499 |
541 |
1.6e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,756 (GRCm39) |
Y367* |
probably null |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,115,026 (GRCm39) |
R997G |
possibly damaging |
Het |
| Brd10 |
T |
C |
19: 29,700,852 (GRCm39) |
I745M |
probably benign |
Het |
| Col22a1 |
T |
G |
15: 71,709,226 (GRCm39) |
K655T |
unknown |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Glcci1 |
G |
A |
6: 8,593,088 (GRCm39) |
V298I |
possibly damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm9956 |
T |
A |
10: 56,621,676 (GRCm39) |
S113T |
probably damaging |
Het |
| Hars2 |
T |
G |
18: 36,916,465 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,330 (GRCm39) |
V260A |
probably damaging |
Het |
| Ift172 |
A |
C |
5: 31,438,320 (GRCm39) |
F46V |
probably damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,627,848 (GRCm39) |
I49L |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,696,563 (GRCm39) |
N2450K |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,554,764 (GRCm39) |
V867A |
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,488,400 (GRCm39) |
T645K |
possibly damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,603 (GRCm39) |
L931P |
probably damaging |
Het |
| Phf19 |
T |
C |
2: 34,786,042 (GRCm39) |
T476A |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,574,943 (GRCm39) |
I551V |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,475,630 (GRCm39) |
E4472V |
probably damaging |
Het |
| Tek |
T |
G |
4: 94,693,067 (GRCm39) |
F209V |
probably damaging |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gpr75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Gpr75
|
APN |
11 |
30,841,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00787:Gpr75
|
APN |
11 |
30,842,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01102:Gpr75
|
APN |
11 |
30,841,755 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01790:Gpr75
|
APN |
11 |
30,841,132 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01975:Gpr75
|
APN |
11 |
30,841,835 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02266:Gpr75
|
APN |
11 |
30,841,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02338:Gpr75
|
APN |
11 |
30,841,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02394:Gpr75
|
APN |
11 |
30,842,190 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03208:Gpr75
|
APN |
11 |
30,842,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Thinner
|
UTSW |
11 |
30,841,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Gpr75
|
UTSW |
11 |
30,842,571 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0053:Gpr75
|
UTSW |
11 |
30,842,571 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0449:Gpr75
|
UTSW |
11 |
30,842,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1760:Gpr75
|
UTSW |
11 |
30,841,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3123:Gpr75
|
UTSW |
11 |
30,841,709 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4669:Gpr75
|
UTSW |
11 |
30,842,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Gpr75
|
UTSW |
11 |
30,841,110 (GRCm39) |
missense |
probably benign |
|
|
R4809:Gpr75
|
UTSW |
11 |
30,842,154 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4913:Gpr75
|
UTSW |
11 |
30,841,808 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4982:Gpr75
|
UTSW |
11 |
30,841,463 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4982:Gpr75
|
UTSW |
11 |
30,841,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Gpr75
|
UTSW |
11 |
30,842,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Gpr75
|
UTSW |
11 |
30,842,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6019:Gpr75
|
UTSW |
11 |
30,841,640 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6199:Gpr75
|
UTSW |
11 |
30,841,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Gpr75
|
UTSW |
11 |
30,841,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7188:Gpr75
|
UTSW |
11 |
30,842,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Gpr75
|
UTSW |
11 |
30,841,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8053:Gpr75
|
UTSW |
11 |
30,841,559 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8703:Gpr75
|
UTSW |
11 |
30,841,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8870:Gpr75
|
UTSW |
11 |
30,841,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8930:Gpr75
|
UTSW |
11 |
30,842,571 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8932:Gpr75
|
UTSW |
11 |
30,842,571 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1088:Gpr75
|
UTSW |
11 |
30,841,139 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAAACTCGACTTCGGGCCA -3'
(R):5'- CAGTAGGATAGATCCTAGCATCTTCTTAGCA -3'
Sequencing Primer
(F):5'- AGCGAGTCCCAAAGTTTCTG -3'
(R):5'- TGGGACATAGATTAGAGTAGAAGTTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation