Incidental Mutation 'R8548:Gpr171'
| ID |
659730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr171
|
| Ensembl Gene |
ENSMUSG00000050075 |
| Gene Name |
G protein-coupled receptor 171 |
| Synonyms |
H963, F730001G15Rik |
| MMRRC Submission |
068513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59003869-59009242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59005400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 125
(I125K)
|
| 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: I125K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082115
Gene: ENSMUSG00000050075
AA Change: I125K
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
T |
5: 121,658,165 (GRCm39) |
L376Q |
probably damaging |
Het |
| Akirin1 |
A |
G |
4: 123,631,831 (GRCm39) |
M179T |
possibly damaging |
Het |
| Ap5b1 |
G |
T |
19: 5,621,123 (GRCm39) |
V848L |
possibly damaging |
Het |
| Apoa2 |
T |
A |
1: 171,053,798 (GRCm39) |
M91K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cdc20 |
A |
C |
4: 118,293,535 (GRCm39) |
S160A |
possibly damaging |
Het |
| Cftr |
G |
T |
6: 18,273,698 (GRCm39) |
V839L |
possibly damaging |
Het |
| Ctf1 |
A |
T |
7: 127,316,564 (GRCm39) |
H171L |
probably benign |
Het |
| Dmac2 |
T |
A |
7: 25,324,217 (GRCm39) |
M225K |
probably damaging |
Het |
| Dmbx1 |
A |
T |
4: 115,777,512 (GRCm39) |
V112E |
probably damaging |
Het |
| Eloa |
T |
C |
4: 135,732,988 (GRCm39) |
K754R |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,777,062 (GRCm39) |
T286I |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,659 (GRCm39) |
D845G |
probably damaging |
Het |
| Fbxl6 |
T |
A |
15: 76,421,542 (GRCm39) |
M232L |
possibly damaging |
Het |
| Hoxa2 |
G |
A |
6: 52,140,098 (GRCm39) |
T296I |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,713,767 (GRCm39) |
M87V |
probably benign |
Het |
| Ilkap |
G |
T |
1: 91,318,882 (GRCm39) |
D31E |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
| Macc1 |
T |
A |
12: 119,414,091 (GRCm39) |
S756T |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,499 (GRCm39) |
D545G |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,854,572 (GRCm39) |
N1390D |
probably benign |
Het |
| Mgat5 |
G |
A |
1: 127,248,409 (GRCm39) |
V104M |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,827,916 (GRCm39) |
M1L |
possibly damaging |
Het |
| Nmt1 |
A |
G |
11: 102,934,052 (GRCm39) |
K64E |
possibly damaging |
Het |
| Nr6a1 |
C |
A |
2: 38,619,550 (GRCm39) |
Q448H |
probably damaging |
Het |
| Nr6a1 |
T |
G |
2: 38,619,551 (GRCm39) |
Q448P |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,783,526 (GRCm39) |
|
probably null |
Het |
| Or8g37 |
T |
A |
9: 39,731,537 (GRCm39) |
C201S |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,566 (GRCm39) |
N476S |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,732,268 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
T |
6: 115,934,558 (GRCm39) |
D1792N |
probably damaging |
Het |
| Prdm11 |
C |
T |
2: 92,843,103 (GRCm39) |
V119M |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,416 (GRCm39) |
F218L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,913,047 (GRCm39) |
Y114H |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,946,581 (GRCm39) |
I101N |
unknown |
Het |
| Sp8 |
A |
C |
12: 118,812,910 (GRCm39) |
Y255S |
possibly damaging |
Het |
| Srfbp1 |
G |
A |
18: 52,621,463 (GRCm39) |
V175I |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,693,050 (GRCm39) |
D359N |
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,217,733 (GRCm39) |
I496V |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 84,908,653 (GRCm39) |
P1018S |
possibly damaging |
Het |
| Usp7 |
A |
T |
16: 8,529,939 (GRCm39) |
V142E |
possibly damaging |
Het |
|
| Other mutations in Gpr171 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01808:Gpr171
|
APN |
3 |
59,005,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCACACAGATGAAGTTTG -3'
(R):5'- CCACAAATCACAGATGTGTCAG -3'
Sequencing Primer
(F):5'- GCCACACAGATGAAGTTTGTTAGC -3'
(R):5'- CAAATCACAGATGTGTCAGCATATAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation