Incidental Mutation 'IGL01790:Gpr75'
| ID |
155175 |
| 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: 0.060)
|
| Stock # |
IGL01790
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
30835358-30843729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 30841132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 12
(N12K)
|
| 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: N12K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105057
Gene: ENSMUSG00000043999
AA Change: N12K
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn1 |
T |
C |
1: 158,407,897 (GRCm39) |
I618T |
possibly damaging |
Het |
| Bod1l |
T |
C |
5: 41,989,593 (GRCm39) |
S377G |
probably benign |
Het |
| Disp2 |
A |
T |
2: 118,621,361 (GRCm39) |
S698C |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,773,012 (GRCm39) |
V43A |
probably damaging |
Het |
| Eml5 |
G |
T |
12: 98,765,191 (GRCm39) |
T1539K |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 53,008,380 (GRCm39) |
I824T |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,242,732 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
C |
2: 180,880,274 (GRCm39) |
Y481D |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,157,236 (GRCm39) |
|
probably null |
Het |
| Lrcol1 |
A |
G |
5: 110,502,073 (GRCm39) |
S49G |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,992,560 (GRCm39) |
M304T |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,731,587 (GRCm39) |
W88R |
probably damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,710,257 (GRCm39) |
V503A |
probably damaging |
Het |
| Ntm |
C |
A |
9: 29,322,886 (GRCm39) |
V45L |
probably benign |
Het |
| Or4c100 |
A |
G |
2: 88,356,767 (GRCm39) |
N280S |
probably damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,266 (GRCm39) |
I221L |
probably benign |
Het |
| Or4p22 |
T |
A |
2: 88,317,270 (GRCm39) |
S65T |
possibly damaging |
Het |
| Or5b116 |
A |
G |
19: 13,422,526 (GRCm39) |
D50G |
probably damaging |
Het |
| Or7a40 |
T |
C |
16: 16,490,967 (GRCm39) |
R293G |
probably damaging |
Het |
| Pias4 |
T |
C |
10: 80,993,332 (GRCm39) |
Q197R |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,628,895 (GRCm39) |
H684L |
probably damaging |
Het |
| Prr5 |
A |
C |
15: 84,651,415 (GRCm39) |
I288L |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,603,336 (GRCm39) |
M183K |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,808,383 (GRCm39) |
F472L |
possibly damaging |
Het |
| Rpl3 |
A |
T |
15: 79,964,061 (GRCm39) |
|
probably benign |
Het |
| Scin |
A |
T |
12: 40,113,256 (GRCm39) |
D538E |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,701,038 (GRCm39) |
S165P |
probably benign |
Het |
| Slc43a2 |
C |
A |
11: 75,436,577 (GRCm39) |
|
probably null |
Het |
| Sparc |
C |
T |
11: 55,298,041 (GRCm39) |
|
probably null |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,119,975 (GRCm39) |
E382G |
possibly damaging |
Het |
| Tmx3 |
G |
A |
18: 90,529,458 (GRCm39) |
|
probably null |
Het |
| Trim24 |
C |
T |
6: 37,922,548 (GRCm39) |
P452S |
probably benign |
Het |
| Vsig10 |
T |
A |
5: 117,476,379 (GRCm39) |
W278R |
probably damaging |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation