Incidental Mutation 'R3123:Gpr75'
| ID |
264160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr75
|
| Ensembl Gene |
ENSMUSG00000043999 |
| Gene Name |
G protein-coupled receptor 75 |
| Synonyms |
|
| MMRRC Submission |
040596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3123 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
30835358-30843729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30841709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 205
(S205T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109430]
[ENSMUST00000203878]
|
| AlphaFold |
Q6X632 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109430
AA Change: S205T
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105057
Gene: ENSMUSG00000043999
AA Change: S205T
| 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 |
|
| Meta Mutation Damage Score |
0.1003 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,234,576 (GRCm39) |
I646V |
possibly damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Csn1s2b |
T |
C |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
| Ctsa |
T |
A |
2: 164,677,152 (GRCm39) |
|
probably null |
Het |
| Cyp2j8 |
G |
A |
4: 96,389,450 (GRCm39) |
|
probably benign |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Dhx9 |
T |
C |
1: 153,341,452 (GRCm39) |
K599E |
possibly damaging |
Het |
| Duox2 |
A |
G |
2: 122,111,554 (GRCm39) |
|
probably benign |
Het |
| F2rl3 |
T |
C |
8: 73,489,840 (GRCm39) |
S356P |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Htt |
T |
C |
5: 34,961,875 (GRCm39) |
S287P |
probably benign |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,594 (GRCm39) |
T198A |
unknown |
Het |
| Kdm5d |
T |
C |
Y: 900,558 (GRCm39) |
V201A |
possibly damaging |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,933,488 (GRCm39) |
I129T |
possibly damaging |
Het |
| Macc1 |
T |
C |
12: 119,411,368 (GRCm39) |
F712S |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Or10ag53 |
A |
T |
2: 87,083,135 (GRCm39) |
T285S |
possibly damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,765 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or2y3 |
G |
A |
17: 38,392,903 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
T |
A |
11: 8,923,021 (GRCm39) |
D82V |
unknown |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Ppwd1 |
C |
T |
13: 104,350,198 (GRCm39) |
E396K |
possibly damaging |
Het |
| Prr30 |
A |
G |
14: 101,436,425 (GRCm39) |
S46P |
probably benign |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,693,153 (GRCm39) |
|
probably null |
Het |
| Rad18 |
A |
T |
6: 112,658,307 (GRCm39) |
D199E |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Rbm27 |
A |
G |
18: 42,460,230 (GRCm39) |
E764G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Taf15 |
G |
A |
11: 83,395,154 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 115,939,137 (GRCm39) |
T230M |
possibly damaging |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,790,133 (GRCm39) |
|
probably benign |
Het |
| Vmn2r109 |
C |
T |
17: 20,761,248 (GRCm39) |
C703Y |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,006,050 (GRCm39) |
|
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 |
|
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 |
|
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'- AGGCTTCGTCATCATGTCC -3'
(R):5'- CATTTCCCTTCACAGAGGCC -3'
Sequencing Primer
(F):5'- CATCATGTCCCTCAAGATGGTGG -3'
(R):5'- TTCACAGAGGCCCCCATGAATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation