Incidental Mutation 'R1338:P2ry13'
| ID |
156931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2ry13
|
| Ensembl Gene |
ENSMUSG00000036362 |
| Gene Name |
purinergic receptor P2Y, G-protein coupled 13 |
| Synonyms |
2010001L06Rik, Gpr86, P2Y13, SP174 |
| MMRRC Submission |
039403-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1338 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59115313-59118303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59117710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 23
(T23A)
|
| 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 benign
Transcript: ENSMUST00000040622
AA Change: T23A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044730
Gene: ENSMUSG00000036362
AA Change: T23A
| 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 |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 88.5%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
G |
T |
10: 4,263,773 (GRCm39) |
V61F |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,888,829 (GRCm39) |
D459E |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,106,684 (GRCm39) |
H5005Y |
unknown |
Het |
| Brdt |
C |
A |
5: 107,498,054 (GRCm39) |
P243Q |
probably benign |
Het |
| C5ar1 |
A |
C |
7: 15,982,260 (GRCm39) |
F253L |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,078,965 (GRCm39) |
V323G |
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,010,644 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,836,387 (GRCm39) |
Y4039F |
probably benign |
Het |
| Lmcd1 |
A |
C |
6: 112,282,089 (GRCm39) |
H41P |
probably damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,197 (GRCm39) |
L53P |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,582,943 (GRCm39) |
E683V |
probably benign |
Het |
| Pck1 |
G |
A |
2: 173,000,203 (GRCm39) |
E545K |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,390,120 (GRCm39) |
V1412A |
probably damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,064 (GRCm39) |
V363A |
probably damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,998,118 (GRCm39) |
S171P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,870,158 (GRCm39) |
K600R |
possibly damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,282,746 (GRCm39) |
E34K |
probably damaging |
Het |
| Spata31d1b |
AGGG |
AGG |
13: 59,865,975 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,663,155 (GRCm39) |
N317I |
probably benign |
Het |
| Zan |
A |
T |
5: 137,391,913 (GRCm39) |
C4627* |
probably null |
Het |
| Zfhx4 |
T |
C |
3: 5,462,021 (GRCm39) |
V1232A |
possibly 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 |
|
IGL03160:P2ry13
|
APN |
3 |
59,117,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCCATTATCAAGTCTGCCACC -3'
(R):5'- TGTCACCGCCGTGTAGTGATTG -3'
Sequencing Primer
(F):5'- TTATCAAGTCTGCCACCAGAGTG -3'
(R):5'- acaaaaaccaaccaaacaacaac -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation