Incidental Mutation 'IGL01975:Gpr75'
| ID |
182631 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr75
|
| Ensembl Gene |
ENSMUSG00000043999 |
| Gene Name |
G protein-coupled receptor 75 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL01975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
30835358-30843729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30841835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 247
(S247P)
|
| 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: S247P
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105057
Gene: ENSMUSG00000043999
AA Change: S247P
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,217,396 (GRCm39) |
C133Y |
probably damaging |
Het |
| Akap3 |
G |
T |
6: 126,850,963 (GRCm39) |
S827I |
probably damaging |
Het |
| Arhgap20 |
C |
T |
9: 51,761,097 (GRCm39) |
Q947* |
probably null |
Het |
| Csf2rb2 |
A |
G |
15: 78,173,086 (GRCm39) |
I258T |
probably benign |
Het |
| Egln2 |
T |
C |
7: 26,859,745 (GRCm39) |
I323V |
possibly damaging |
Het |
| Erlin1 |
C |
A |
19: 44,025,370 (GRCm39) |
G348V |
probably damaging |
Het |
| Fbxo38 |
C |
T |
18: 62,648,484 (GRCm39) |
A685T |
probably damaging |
Het |
| Gm10272 |
G |
A |
10: 77,542,608 (GRCm39) |
C50Y |
probably damaging |
Het |
| Gm11559 |
G |
T |
11: 99,755,682 (GRCm39) |
Q110H |
unknown |
Het |
| Grid1 |
A |
T |
14: 35,045,383 (GRCm39) |
M409L |
probably benign |
Het |
| Herc3 |
A |
C |
6: 58,893,561 (GRCm39) |
D941A |
possibly damaging |
Het |
| Ilf3 |
T |
A |
9: 21,303,675 (GRCm39) |
S166T |
probably benign |
Het |
| Kcnu1 |
A |
C |
8: 26,424,525 (GRCm39) |
E273D |
probably benign |
Het |
| Kdm8 |
A |
G |
7: 125,051,529 (GRCm39) |
S41G |
probably benign |
Het |
| Ldlr |
G |
A |
9: 21,644,993 (GRCm39) |
V174I |
probably benign |
Het |
| Lpar5 |
T |
C |
6: 125,058,750 (GRCm39) |
L157P |
probably damaging |
Het |
| Mcrs1 |
A |
G |
15: 99,141,559 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
T |
A |
3: 123,395,163 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Or6c69c |
A |
G |
10: 129,911,139 (GRCm39) |
I287V |
probably damaging |
Het |
| Palmd |
A |
T |
3: 116,717,283 (GRCm39) |
S405T |
probably benign |
Het |
| Ptger1 |
T |
C |
8: 84,396,149 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,680,602 (GRCm39) |
K1068M |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,654,473 (GRCm39) |
D843E |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,567,385 (GRCm39) |
S322P |
possibly damaging |
Het |
| Slc22a8 |
T |
A |
19: 8,582,775 (GRCm39) |
I152N |
probably damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,937,275 (GRCm39) |
D268E |
probably benign |
Het |
| Sstr1 |
A |
G |
12: 58,260,412 (GRCm39) |
N345S |
probably benign |
Het |
| Stx17 |
T |
C |
4: 48,180,670 (GRCm39) |
S172P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,018,908 (GRCm39) |
|
probably benign |
Het |
| Tpte |
A |
G |
8: 22,839,353 (GRCm39) |
T467A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
| Trav13-2 |
A |
T |
14: 53,872,823 (GRCm39) |
T100S |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,792,534 (GRCm39) |
|
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,985,541 (GRCm39) |
H486R |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,822,889 (GRCm39) |
I453T |
probably benign |
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 |
|
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 |
|
R1289:Gpr75
|
UTSW |
11 |
30,842,706 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation