Incidental Mutation 'IGL03160:P2ry13'
ID |
411381 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
P2ry13
|
Ensembl Gene |
ENSMUSG00000036362 |
Gene Name |
purinergic receptor P2Y, G-protein coupled 13 |
Synonyms |
2010001L06Rik, Gpr86, P2Y13, SP174 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03160
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
59115313-59118303 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59117496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 94
(L94P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044730
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040325]
[ENSMUST00000040622]
[ENSMUST00000164225]
[ENSMUST00000199659]
|
AlphaFold |
Q9D8I2 |
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 damaging
Transcript: ENSMUST00000040622
AA Change: L94P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044730 Gene: ENSMUSG00000036362 AA Change: L94P
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
44 |
298 |
1.3e-28 |
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 |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq, Sep 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired bile flow, biliary cholesterol secretion, and bile acid secretion, decreased liver cholesterol level, and reduced macrophage-to-feces reverse cholesterol transport. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
T |
C |
13: 111,392,462 (GRCm39) |
S266P |
probably benign |
Het |
Agrn |
A |
T |
4: 156,254,820 (GRCm39) |
F1525Y |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,380,165 (GRCm39) |
V2165A |
probably damaging |
Het |
Ccn6 |
T |
C |
10: 39,029,233 (GRCm39) |
T232A |
probably damaging |
Het |
Cd109 |
G |
T |
9: 78,568,338 (GRCm39) |
|
probably null |
Het |
Cdhr4 |
A |
C |
9: 107,873,068 (GRCm39) |
T339P |
probably benign |
Het |
Chek1 |
T |
C |
9: 36,633,941 (GRCm39) |
H128R |
probably damaging |
Het |
Clcn7 |
T |
A |
17: 25,365,427 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,998,880 (GRCm39) |
F1056S |
probably damaging |
Het |
Eml3 |
A |
T |
19: 8,912,319 (GRCm39) |
Q372L |
probably benign |
Het |
Fam161b |
T |
C |
12: 84,400,599 (GRCm39) |
T458A |
probably benign |
Het |
Fbxo3 |
T |
A |
2: 103,860,692 (GRCm39) |
C36* |
probably null |
Het |
Gm28042 |
T |
A |
2: 119,866,309 (GRCm39) |
I369N |
possibly damaging |
Het |
Gpc1 |
A |
G |
1: 92,785,579 (GRCm39) |
Y423C |
probably damaging |
Het |
Heatr5a |
A |
G |
12: 51,931,279 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,397,942 (GRCm39) |
Y290F |
probably benign |
Het |
Ifi207 |
T |
C |
1: 173,562,670 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
A |
T |
7: 139,500,605 (GRCm39) |
K657* |
probably null |
Het |
Lama5 |
T |
C |
2: 179,822,128 (GRCm39) |
T2927A |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,622,103 (GRCm39) |
N345I |
probably damaging |
Het |
Mtbp |
T |
C |
15: 55,484,013 (GRCm39) |
|
probably benign |
Het |
Muc1 |
G |
A |
3: 89,140,331 (GRCm39) |
V608I |
possibly damaging |
Het |
Or56a3 |
A |
G |
7: 104,735,520 (GRCm39) |
N199S |
probably damaging |
Het |
Retreg3 |
G |
T |
11: 100,990,501 (GRCm39) |
Q89K |
probably benign |
Het |
Rhoq |
A |
C |
17: 87,304,349 (GRCm39) |
Y160S |
probably damaging |
Het |
Samd9l |
A |
T |
6: 3,374,894 (GRCm39) |
V789D |
probably damaging |
Het |
Slc35f5 |
T |
C |
1: 125,502,472 (GRCm39) |
S275P |
probably damaging |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Snapc1 |
T |
A |
12: 74,016,978 (GRCm39) |
H205Q |
probably damaging |
Het |
Stard3 |
G |
T |
11: 98,269,737 (GRCm39) |
R352L |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,752,671 (GRCm39) |
I85V |
possibly damaging |
Het |
Tenm3 |
A |
T |
8: 49,099,453 (GRCm39) |
D117E |
probably benign |
Het |
Tg |
T |
A |
15: 66,711,152 (GRCm39) |
C971* |
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,640,651 (GRCm39) |
|
probably benign |
Het |
Tra2a |
C |
T |
6: 49,240,798 (GRCm39) |
V4I |
possibly damaging |
Het |
Trim54 |
C |
T |
5: 31,289,424 (GRCm39) |
T145I |
probably damaging |
Het |
Vmn2r75 |
T |
C |
7: 85,797,644 (GRCm39) |
D723G |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,903,594 (GRCm39) |
T2042A |
probably damaging |
Het |
Zfp87 |
T |
C |
13: 67,669,392 (GRCm39) |
E18G |
probably damaging |
Het |
|
Other mutations in P2ry13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01815:P2ry13
|
APN |
3 |
59,117,121 (GRCm39) |
missense |
probably benign |
|
IGL02370:P2ry13
|
APN |
3 |
59,116,886 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02850:P2ry13
|
APN |
3 |
59,117,029 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03247:P2ry13
|
APN |
3 |
59,117,013 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0346:P2ry13
|
UTSW |
3 |
59,116,987 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1338:P2ry13
|
UTSW |
3 |
59,117,710 (GRCm39) |
missense |
probably benign |
0.03 |
R1491:P2ry13
|
UTSW |
3 |
59,116,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R1528:P2ry13
|
UTSW |
3 |
59,117,710 (GRCm39) |
missense |
probably benign |
0.03 |
R2265:P2ry13
|
UTSW |
3 |
59,117,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:P2ry13
|
UTSW |
3 |
59,117,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:P2ry13
|
UTSW |
3 |
59,117,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R2925:P2ry13
|
UTSW |
3 |
59,116,801 (GRCm39) |
missense |
probably benign |
0.09 |
R4747:P2ry13
|
UTSW |
3 |
59,117,308 (GRCm39) |
missense |
probably benign |
0.02 |
R4942:P2ry13
|
UTSW |
3 |
59,116,983 (GRCm39) |
missense |
probably benign |
0.35 |
R5655:P2ry13
|
UTSW |
3 |
59,117,260 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5808:P2ry13
|
UTSW |
3 |
59,117,653 (GRCm39) |
missense |
probably benign |
0.00 |
R5913:P2ry13
|
UTSW |
3 |
59,116,786 (GRCm39) |
missense |
probably benign |
0.06 |
R6181:P2ry13
|
UTSW |
3 |
59,117,328 (GRCm39) |
missense |
probably benign |
0.08 |
R7682:P2ry13
|
UTSW |
3 |
59,117,545 (GRCm39) |
missense |
probably benign |
0.02 |
R7686:P2ry13
|
UTSW |
3 |
59,117,439 (GRCm39) |
missense |
probably damaging |
0.97 |
R8062:P2ry13
|
UTSW |
3 |
59,117,703 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2016-08-02 |