Incidental Mutation 'IGL01808:Gpr171'
ID |
155744 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr171
|
Ensembl Gene |
ENSMUSG00000050075 |
Gene Name |
G protein-coupled receptor 171 |
Synonyms |
H963, F730001G15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL01808
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
59003869-59009242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59005572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 68
(P68S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029393]
[ENSMUST00000040325]
[ENSMUST00000040846]
[ENSMUST00000085040]
[ENSMUST00000164225]
[ENSMUST00000199659]
|
AlphaFold |
Q8BG55 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029393
|
SMART Domains |
Protein: ENSMUSP00000029393 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
172 |
1.54e-17 |
SMART |
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
low complexity region
|
280 |
289 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
293 |
737 |
1.6e-200 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040325
|
SMART Domains |
Protein: ENSMUSP00000042269 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
282 |
730 |
2.6e-207 |
PFAM |
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
low complexity region
|
853 |
872 |
N/A |
INTRINSIC |
low complexity region
|
1455 |
1466 |
N/A |
INTRINSIC |
low complexity region
|
1728 |
1742 |
N/A |
INTRINSIC |
low complexity region
|
1769 |
1783 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1803 |
2029 |
2.3e-14 |
PFAM |
low complexity region
|
2055 |
2076 |
N/A |
INTRINSIC |
low complexity region
|
2083 |
2101 |
N/A |
INTRINSIC |
low complexity region
|
2116 |
2136 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040846
|
SMART Domains |
Protein: ENSMUSP00000041859 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
172 |
1.54e-17 |
SMART |
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
low complexity region
|
280 |
289 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
293 |
728 |
9e-201 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085040
AA Change: P68S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082115 Gene: ENSMUSG00000050075 AA Change: P68S
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
31 |
285 |
4e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164225
|
SMART Domains |
Protein: ENSMUSP00000127038 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
283 |
765 |
5e-187 |
PFAM |
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
low complexity region
|
1763 |
1777 |
N/A |
INTRINSIC |
low complexity region
|
1804 |
1818 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1840 |
2063 |
9.7e-66 |
PFAM |
low complexity region
|
2090 |
2111 |
N/A |
INTRINSIC |
low complexity region
|
2118 |
2136 |
N/A |
INTRINSIC |
low complexity region
|
2151 |
2171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199659
|
SMART Domains |
Protein: ENSMUSP00000142903 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
282 |
765 |
5.5e-209 |
PFAM |
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
low complexity region
|
1761 |
1775 |
N/A |
INTRINSIC |
low complexity region
|
1802 |
1816 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1836 |
2062 |
1.7e-15 |
PFAM |
low complexity region
|
2088 |
2130 |
N/A |
INTRINSIC |
low complexity region
|
2144 |
2164 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ager |
A |
T |
17: 34,818,431 (GRCm39) |
Q266L |
probably damaging |
Het |
Amz1 |
A |
G |
5: 140,727,034 (GRCm39) |
|
probably benign |
Het |
Ebf2 |
C |
T |
14: 67,651,932 (GRCm39) |
A488V |
probably benign |
Het |
Gm5885 |
A |
T |
6: 133,508,181 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
T |
C |
2: 174,140,490 (GRCm39) |
S220P |
probably damaging |
Het |
H2ax |
T |
C |
9: 44,246,246 (GRCm39) |
I63T |
possibly damaging |
Het |
H2-M9 |
A |
T |
17: 36,952,711 (GRCm39) |
|
probably null |
Het |
Igsf9 |
T |
C |
1: 172,312,370 (GRCm39) |
V27A |
probably benign |
Het |
Kcnh6 |
G |
T |
11: 105,914,753 (GRCm39) |
|
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,853,650 (GRCm39) |
|
probably null |
Het |
Mllt6 |
C |
A |
11: 97,563,310 (GRCm39) |
H298N |
possibly damaging |
Het |
Mtmr3 |
A |
G |
11: 4,447,404 (GRCm39) |
I352T |
probably damaging |
Het |
Mtrr |
T |
C |
13: 68,714,212 (GRCm39) |
D509G |
probably benign |
Het |
Ncan |
C |
T |
8: 70,560,090 (GRCm39) |
|
probably null |
Het |
Or51aa2 |
T |
A |
7: 103,187,781 (GRCm39) |
Y220F |
probably damaging |
Het |
Pcdhb4 |
T |
C |
18: 37,442,067 (GRCm39) |
V459A |
probably damaging |
Het |
Phrf1 |
C |
A |
7: 140,840,879 (GRCm39) |
P1274Q |
probably damaging |
Het |
Slc4a2 |
T |
C |
5: 24,645,205 (GRCm39) |
L1125P |
probably damaging |
Het |
Synpo |
T |
C |
18: 60,735,280 (GRCm39) |
I650V |
probably benign |
Het |
Tsc1 |
G |
A |
2: 28,552,519 (GRCm39) |
R86H |
probably damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,473,414 (GRCm39) |
V501A |
probably benign |
Het |
Vmn1r203 |
T |
C |
13: 22,708,717 (GRCm39) |
I166T |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,687,650 (GRCm39) |
C933R |
probably damaging |
Het |
Zfp142 |
A |
T |
1: 74,615,184 (GRCm39) |
F342Y |
probably damaging |
Het |
|
Other mutations in Gpr171 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02635:Gpr171
|
APN |
3 |
59,005,017 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02858:Gpr171
|
APN |
3 |
59,005,288 (GRCm39) |
missense |
probably benign |
0.26 |
R1491:Gpr171
|
UTSW |
3 |
59,005,016 (GRCm39) |
missense |
probably benign |
0.01 |
R1539:Gpr171
|
UTSW |
3 |
59,005,142 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1819:Gpr171
|
UTSW |
3 |
59,005,341 (GRCm39) |
missense |
probably benign |
0.02 |
R2255:Gpr171
|
UTSW |
3 |
59,005,628 (GRCm39) |
missense |
probably benign |
0.01 |
R3721:Gpr171
|
UTSW |
3 |
59,005,091 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3856:Gpr171
|
UTSW |
3 |
59,005,506 (GRCm39) |
missense |
probably damaging |
0.96 |
R4259:Gpr171
|
UTSW |
3 |
59,004,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Gpr171
|
UTSW |
3 |
59,004,887 (GRCm39) |
missense |
probably benign |
0.11 |
R4816:Gpr171
|
UTSW |
3 |
59,005,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R4972:Gpr171
|
UTSW |
3 |
59,005,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R6363:Gpr171
|
UTSW |
3 |
59,005,313 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6414:Gpr171
|
UTSW |
3 |
59,005,544 (GRCm39) |
missense |
probably damaging |
0.97 |
R7076:Gpr171
|
UTSW |
3 |
59,005,577 (GRCm39) |
missense |
probably damaging |
0.98 |
R7290:Gpr171
|
UTSW |
3 |
59,005,147 (GRCm39) |
missense |
probably benign |
0.00 |
R7404:Gpr171
|
UTSW |
3 |
59,005,622 (GRCm39) |
missense |
probably damaging |
0.99 |
R7447:Gpr171
|
UTSW |
3 |
59,005,860 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7721:Gpr171
|
UTSW |
3 |
59,005,320 (GRCm39) |
missense |
probably benign |
0.40 |
R8120:Gpr171
|
UTSW |
3 |
59,005,406 (GRCm39) |
missense |
probably damaging |
0.96 |
R8548:Gpr171
|
UTSW |
3 |
59,005,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R8897:Gpr171
|
UTSW |
3 |
59,005,116 (GRCm39) |
missense |
probably benign |
|
R9126:Gpr171
|
UTSW |
3 |
59,005,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Gpr171
|
UTSW |
3 |
59,005,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R9411:Gpr171
|
UTSW |
3 |
59,005,311 (GRCm39) |
nonsense |
probably null |
|
R9418:Gpr171
|
UTSW |
3 |
59,004,999 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Posted On |
2014-02-04 |