Incidental Mutation 'IGL01102:Gpr75'
| ID |
52299 |
| 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 # |
IGL01102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
30835358-30843729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30841755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 220
(V220A)
|
| 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: V220A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105057
Gene: ENSMUSG00000043999
AA Change: V220A
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,323,968 (GRCm39) |
|
probably benign |
Het |
| Bloc1s2-ps |
C |
T |
2: 52,509,914 (GRCm39) |
A50V |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,627,240 (GRCm39) |
L435P |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,647,441 (GRCm39) |
D455G |
unknown |
Het |
| Col4a3 |
A |
G |
1: 82,647,976 (GRCm39) |
I496V |
unknown |
Het |
| Coro1c |
A |
T |
5: 113,987,675 (GRCm39) |
M222K |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,410,149 (GRCm39) |
|
probably null |
Het |
| Emc4 |
C |
A |
2: 112,197,871 (GRCm39) |
|
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,842 (GRCm39) |
D32G |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,572,808 (GRCm39) |
|
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,896,828 (GRCm39) |
K559E |
probably damaging |
Het |
| Gckr |
T |
C |
5: 31,466,381 (GRCm39) |
L452P |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,124 (GRCm39) |
V323A |
probably damaging |
Het |
| Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
| Hdac6 |
A |
G |
X: 7,813,237 (GRCm39) |
S42P |
probably benign |
Het |
| Hdhd2 |
A |
G |
18: 77,044,607 (GRCm39) |
N128S |
probably damaging |
Het |
| Hsd3b2 |
G |
T |
3: 98,618,995 (GRCm39) |
R317S |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,400,909 (GRCm39) |
I474F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,255,102 (GRCm39) |
Y954C |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,679,445 (GRCm39) |
F196L |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,125 (GRCm39) |
M167T |
probably damaging |
Het |
| Mterf4 |
C |
T |
1: 93,232,812 (GRCm39) |
R13H |
possibly damaging |
Het |
| Npffr1 |
T |
G |
10: 61,449,987 (GRCm39) |
V87G |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,848,192 (GRCm39) |
P26L |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,497 (GRCm39) |
I37V |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,645,423 (GRCm39) |
L386P |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,653 (GRCm39) |
I708T |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,090,195 (GRCm39) |
I412V |
probably benign |
Het |
| Ramp2 |
T |
A |
11: 101,138,453 (GRCm39) |
Y85N |
probably benign |
Het |
| Rnf217 |
A |
G |
10: 31,484,499 (GRCm39) |
Y228H |
probably damaging |
Het |
| Rock1 |
T |
G |
18: 10,080,502 (GRCm39) |
D1014A |
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,762,338 (GRCm39) |
C101* |
probably null |
Het |
| Sema6b |
G |
T |
17: 56,439,761 (GRCm39) |
L27I |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,369 (GRCm39) |
V97A |
probably benign |
Het |
| Strc |
C |
A |
2: 121,195,541 (GRCm39) |
R1636L |
probably benign |
Het |
| Tm9sf1 |
T |
A |
14: 55,880,224 (GRCm39) |
T58S |
probably damaging |
Het |
| Tmem106c |
T |
C |
15: 97,864,825 (GRCm39) |
Y85H |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,811 (GRCm39) |
|
probably null |
Het |
| Vps13a |
A |
G |
19: 16,628,781 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
T |
7: 42,263,333 (GRCm39) |
L168* |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation