Incidental Mutation 'IGL03247:P2ry13'
| ID |
414429 |
| 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 # |
IGL03247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
59115313-59118303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59117013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 255
(V255D)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000040622
AA Change: V255D
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044730
Gene: ENSMUSG00000036362
AA Change: V255D
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
A |
14: 56,007,553 (GRCm39) |
I926F |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,692,820 (GRCm39) |
N418D |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,655,579 (GRCm39) |
V3375A |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,860,441 (GRCm39) |
M1L |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,303,526 (GRCm39) |
D1188G |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,952,999 (GRCm39) |
L47Q |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,240,681 (GRCm39) |
V107A |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,416,473 (GRCm39) |
N313S |
possibly damaging |
Het |
| Dolk |
T |
C |
2: 30,175,523 (GRCm39) |
Y174C |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,298,147 (GRCm39) |
E219G |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,770,894 (GRCm39) |
E733G |
probably benign |
Het |
| Fam228a |
A |
G |
12: 4,787,734 (GRCm39) |
F13S |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,545,169 (GRCm39) |
V829A |
probably benign |
Het |
| Gid4 |
C |
A |
11: 60,323,169 (GRCm39) |
T87N |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,462,466 (GRCm39) |
K152R |
probably benign |
Het |
| Ifna2 |
T |
A |
4: 88,601,614 (GRCm39) |
T135S |
probably benign |
Het |
| Il1rapl2 |
G |
A |
X: 137,690,429 (GRCm39) |
G298D |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,407,825 (GRCm39) |
L174* |
probably null |
Het |
| Mga |
T |
A |
2: 119,765,994 (GRCm39) |
D1341E |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,348,631 (GRCm39) |
M54K |
probably benign |
Het |
| Mphosph8 |
T |
A |
14: 56,916,277 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
A |
G |
11: 88,100,922 (GRCm39) |
|
probably benign |
Het |
| Necab1 |
C |
T |
4: 14,960,046 (GRCm39) |
M300I |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,829,688 (GRCm39) |
D660N |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,276,754 (GRCm39) |
H313L |
probably benign |
Het |
| Or9r7 |
T |
A |
10: 129,962,584 (GRCm39) |
E114V |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,165,214 (GRCm39) |
E905K |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,843,499 (GRCm39) |
Q550K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,487,289 (GRCm39) |
V640E |
possibly damaging |
Het |
| Sec31b |
T |
G |
19: 44,507,379 (GRCm39) |
K817N |
possibly damaging |
Het |
| Shisal2a |
A |
T |
4: 108,225,098 (GRCm39) |
C155S |
probably benign |
Het |
| Skint2 |
C |
A |
4: 112,483,223 (GRCm39) |
H209Q |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,798,005 (GRCm39) |
S193G |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,635,852 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,753,680 (GRCm39) |
M1041V |
possibly damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,200,436 (GRCm39) |
S89P |
possibly damaging |
Het |
| Tusc3 |
T |
A |
8: 39,597,931 (GRCm39) |
N299K |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,400,327 (GRCm39) |
S418P |
probably benign |
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 |
|
IGL03160:P2ry13
|
APN |
3 |
59,117,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation