Incidental Mutation 'R8703:Gpr75'
| ID |
669166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr75
|
| Ensembl Gene |
ENSMUSG00000043999 |
| Gene Name |
G protein-coupled receptor 75 |
| Synonyms |
|
| MMRRC Submission |
068557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
30885358-30893729 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 30891890 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 265
(Q265P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109430]
[ENSMUST00000203878]
|
| AlphaFold |
Q6X632 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109430
AA Change: Q265P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105057
Gene: ENSMUSG00000043999
AA Change: Q265P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,528,673 (GRCm38) |
T2013I |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,325,124 (GRCm38) |
N137Y |
|
Het |
| Apol10b |
T |
A |
15: 77,588,697 (GRCm38) |
E52D |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 72,438,447 (GRCm38) |
Y128N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,666,011 (GRCm38) |
L1669* |
probably null |
Het |
| Dppa3 |
A |
T |
6: 122,628,778 (GRCm38) |
D97V |
probably damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,723,261 (GRCm38) |
P490T |
probably damaging |
Het |
| Eya4 |
A |
G |
10: 23,163,442 (GRCm38) |
S85P |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,022,070 (GRCm38) |
I113N |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,090,654 (GRCm38) |
D1040G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,991,527 (GRCm38) |
D5868V |
probably damaging |
Het |
| Iqcm |
G |
T |
8: 75,888,643 (GRCm38) |
G451C |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,452,705 (GRCm38) |
L678P |
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,629,977 (GRCm38) |
P67L |
probably damaging |
Het |
| Naalad2 |
A |
C |
9: 18,378,712 (GRCm38) |
Y207D |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,335,271 (GRCm38) |
D1325N |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 123,916,282 (GRCm38) |
|
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,595,266 (GRCm38) |
|
probably benign |
Het |
| Olfr1066 |
C |
A |
2: 86,455,900 (GRCm38) |
V124L |
possibly damaging |
Het |
| Olfr1272 |
T |
A |
2: 90,296,493 (GRCm38) |
I123F |
probably damaging |
Het |
| Olfr1499 |
G |
T |
19: 13,814,741 (GRCm38) |
P283H |
probably damaging |
Het |
| Per2 |
T |
A |
1: 91,424,045 (GRCm38) |
N913I |
possibly damaging |
Het |
| Rab9 |
C |
T |
X: 166,457,758 (GRCm38) |
D186N |
probably benign |
Het |
| Reps1 |
C |
T |
10: 18,093,242 (GRCm38) |
R183C |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,425,887 (GRCm38) |
C134S |
|
Het |
| Rpl10-ps3 |
A |
G |
9: 50,344,884 (GRCm38) |
S20P |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,729,831 (GRCm38) |
G932C |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,700,923 (GRCm38) |
Q46R |
|
Het |
| Sh3d19 |
A |
G |
3: 86,107,261 (GRCm38) |
E453G |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,625,714 (GRCm38) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,960,324 (GRCm38) |
F129L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,876,010 (GRCm38) |
I399F |
unknown |
Het |
| Slc22a7 |
T |
C |
17: 46,434,025 (GRCm38) |
D365G |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,347,488 (GRCm38) |
M38V |
probably benign |
Het |
| Slc9b2 |
C |
A |
3: 135,326,163 (GRCm38) |
Y261* |
probably null |
Het |
| Spata21 |
A |
G |
4: 141,104,907 (GRCm38) |
I460V |
probably benign |
Het |
| Tes |
C |
G |
6: 17,099,789 (GRCm38) |
P261R |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 33,572,696 (GRCm38) |
L718P |
probably benign |
Het |
| Tmem135 |
G |
A |
7: 89,158,962 (GRCm38) |
A202V |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,961,322 (GRCm38) |
F55L |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,317 (GRCm38) |
L1128P |
probably damaging |
Het |
| Zdhhc5 |
T |
C |
2: 84,690,252 (GRCm38) |
E527G |
probably benign |
Het |
| Zfand4 |
A |
G |
6: 116,273,643 (GRCm38) |
I11M |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,848,961 (GRCm38) |
I512K |
probably benign |
Het |
| Zfp638 |
T |
A |
6: 83,977,161 (GRCm38) |
F1416Y |
probably damaging |
Het |
|
| Other mutations in Gpr75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Gpr75
|
APN |
11 |
30,891,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00787:Gpr75
|
APN |
11 |
30,892,290 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01102:Gpr75
|
APN |
11 |
30,891,755 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01790:Gpr75
|
APN |
11 |
30,891,132 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01975:Gpr75
|
APN |
11 |
30,891,835 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02266:Gpr75
|
APN |
11 |
30,891,977 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02338:Gpr75
|
APN |
11 |
30,891,730 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02394:Gpr75
|
APN |
11 |
30,892,190 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03208:Gpr75
|
APN |
11 |
30,892,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Thinner
|
UTSW |
11 |
30,891,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0053:Gpr75
|
UTSW |
11 |
30,892,571 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R0053:Gpr75
|
UTSW |
11 |
30,892,571 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R0449:Gpr75
|
UTSW |
11 |
30,892,456 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1289:Gpr75
|
UTSW |
11 |
30,892,706 (GRCm38) |
missense |
probably benign |
0.23 |
|
R1760:Gpr75
|
UTSW |
11 |
30,891,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3123:Gpr75
|
UTSW |
11 |
30,891,709 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4669:Gpr75
|
UTSW |
11 |
30,892,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4704:Gpr75
|
UTSW |
11 |
30,891,110 (GRCm38) |
missense |
probably benign |
|
|
R4809:Gpr75
|
UTSW |
11 |
30,892,154 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4913:Gpr75
|
UTSW |
11 |
30,891,808 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4982:Gpr75
|
UTSW |
11 |
30,891,463 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4982:Gpr75
|
UTSW |
11 |
30,891,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5071:Gpr75
|
UTSW |
11 |
30,892,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5318:Gpr75
|
UTSW |
11 |
30,892,459 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6019:Gpr75
|
UTSW |
11 |
30,891,640 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6199:Gpr75
|
UTSW |
11 |
30,891,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6455:Gpr75
|
UTSW |
11 |
30,891,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7188:Gpr75
|
UTSW |
11 |
30,892,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7826:Gpr75
|
UTSW |
11 |
30,891,209 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8053:Gpr75
|
UTSW |
11 |
30,891,559 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8870:Gpr75
|
UTSW |
11 |
30,891,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8930:Gpr75
|
UTSW |
11 |
30,892,571 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8932:Gpr75
|
UTSW |
11 |
30,892,571 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
Z1088:Gpr75
|
UTSW |
11 |
30,891,139 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATAAGTCCCACCTGTGTCTC -3'
(R):5'- CACGGCTTTGGAATCCTTGG -3'
Sequencing Primer
(F):5'- AGGGAAAGCCATTCTGTCTC -3'
(R):5'- CTTTGGAATCCTTGGCAGTAGAGAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation