Incidental Mutation 'R7222:P2ry14'
ID |
561864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
P2ry14
|
Ensembl Gene |
ENSMUSG00000036381 |
Gene Name |
purinergic receptor P2Y, G-protein coupled, 14 |
Synonyms |
A330108O13Rik, P2Y14, Gpr105 |
MMRRC Submission |
045294-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7222 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
59022044-59060913 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59022803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 219
(K219R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040325]
[ENSMUST00000065220]
[ENSMUST00000091112]
[ENSMUST00000164225]
[ENSMUST00000196081]
[ENSMUST00000197220]
[ENSMUST00000197841]
[ENSMUST00000198838]
[ENSMUST00000199659]
[ENSMUST00000200358]
[ENSMUST00000200673]
|
AlphaFold |
Q9ESG6 |
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: ENSMUST00000065220
AA Change: K219R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000066669 Gene: ENSMUSG00000036381 AA Change: K219R
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091112
AA Change: K219R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000088642 Gene: ENSMUSG00000036381 AA Change: K219R
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
40 |
295 |
4.8e-36 |
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: ENSMUST00000196081
AA Change: K219R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000142601 Gene: ENSMUSG00000036381 AA Change: K219R
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197220
AA Change: K219R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000143070 Gene: ENSMUSG00000036381 AA Change: K219R
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197841
AA Change: K228R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000142934 Gene: ENSMUSG00000036381 AA Change: K228R
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
49 |
304 |
1.2e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198838
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200358
|
SMART Domains |
Protein: ENSMUSP00000142641 Gene: ENSMUSG00000036381
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
39 |
110 |
8.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200673
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (49/50) |
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, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele fail to exhibit increased glucose mediated forestomach muscle tension. Mice homozygous for a different null allele show decreased gastrointestinal emptying, impaired glucose tolerance, decreased glucose-stimulated insulin release, and reduced airway responsiveness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,082,519 (GRCm39) |
N1151K |
probably benign |
Het |
Add3 |
T |
C |
19: 53,205,277 (GRCm39) |
V9A |
unknown |
Het |
Ankar |
A |
G |
1: 72,705,514 (GRCm39) |
I832T |
probably damaging |
Het |
Arhgef10l |
C |
A |
4: 140,248,580 (GRCm39) |
W785L |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,512,394 (GRCm39) |
Q490* |
probably null |
Het |
Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
Clip1 |
T |
A |
5: 123,749,904 (GRCm39) |
N993I |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,033,385 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
A |
7: 119,670,746 (GRCm39) |
N651Y |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,404,929 (GRCm39) |
|
probably null |
Het |
Eva1c |
AGGGTGTCCTGTACGAAGGACTTCCGGG |
AGGG |
16: 90,701,072 (GRCm39) |
|
probably benign |
Het |
Flg |
T |
A |
3: 93,195,621 (GRCm39) |
S74T |
unknown |
Het |
Fras1 |
T |
C |
5: 96,784,045 (GRCm39) |
Y850H |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,784,668 (GRCm39) |
T884S |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,814,015 (GRCm39) |
T3445A |
probably benign |
Het |
Herc1 |
C |
A |
9: 66,374,781 (GRCm39) |
P3237H |
probably damaging |
Het |
Ifi35 |
A |
G |
11: 101,348,341 (GRCm39) |
N123S |
probably benign |
Het |
Igkv1-117 |
A |
T |
6: 68,098,733 (GRCm39) |
D94V |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,309,614 (GRCm39) |
D764G |
probably damaging |
Het |
Lztr1 |
A |
G |
16: 17,341,996 (GRCm39) |
E657G |
possibly damaging |
Het |
Mmd2 |
G |
T |
5: 142,553,682 (GRCm39) |
L160I |
probably benign |
Het |
Muc2 |
A |
T |
7: 141,290,758 (GRCm39) |
T15S |
|
Het |
Muc6 |
T |
A |
7: 141,214,428 (GRCm39) |
H2835L |
unknown |
Het |
Myo1h |
G |
A |
5: 114,493,322 (GRCm39) |
|
probably null |
Het |
Or10v5 |
C |
A |
19: 11,806,021 (GRCm39) |
R123L |
probably damaging |
Het |
Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
Or52n4 |
T |
C |
7: 104,293,937 (GRCm39) |
D214G |
probably damaging |
Het |
Or5d43 |
T |
A |
2: 88,104,809 (GRCm39) |
M195L |
probably benign |
Het |
Or5p72 |
A |
G |
7: 108,021,844 (GRCm39) |
D22G |
probably benign |
Het |
Or6c219 |
A |
G |
10: 129,781,758 (GRCm39) |
Y58H |
probably damaging |
Het |
Or7g32 |
A |
T |
9: 19,388,763 (GRCm39) |
V261E |
probably damaging |
Het |
Osbpl7 |
A |
G |
11: 96,951,364 (GRCm39) |
T684A |
probably damaging |
Het |
Pde4d |
A |
T |
13: 109,894,113 (GRCm39) |
H156L |
probably damaging |
Het |
Polq |
G |
T |
16: 36,906,995 (GRCm39) |
E2319* |
probably null |
Het |
Ranbp3 |
T |
G |
17: 57,017,211 (GRCm39) |
V409G |
probably damaging |
Het |
Sart3 |
T |
C |
5: 113,884,717 (GRCm39) |
D629G |
probably benign |
Het |
Selenon |
T |
A |
4: 134,275,288 (GRCm39) |
T137S |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,380,530 (GRCm39) |
D55E |
|
Het |
Slamf8 |
G |
A |
1: 172,411,775 (GRCm39) |
T240I |
possibly damaging |
Het |
Slc39a10 |
A |
G |
1: 46,858,452 (GRCm39) |
L615P |
possibly damaging |
Het |
Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Tbce |
T |
C |
13: 14,172,735 (GRCm39) |
D505G |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,754,004 (GRCm39) |
G800R |
probably damaging |
Het |
Terf2ip |
T |
C |
8: 112,738,547 (GRCm39) |
V145A |
possibly damaging |
Het |
Tmprss7 |
T |
C |
16: 45,511,256 (GRCm39) |
I41V |
probably benign |
Het |
Traj49 |
A |
T |
14: 54,406,160 (GRCm39) |
N6I |
|
Het |
Trim30a |
T |
C |
7: 104,070,639 (GRCm39) |
|
probably null |
Het |
Ubr4 |
T |
A |
4: 139,190,684 (GRCm39) |
S905T |
unknown |
Het |
Unc93a2 |
A |
G |
17: 7,643,866 (GRCm39) |
S148P |
probably damaging |
Het |
Zfp948 |
T |
A |
17: 21,808,102 (GRCm39) |
H431Q |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,601,779 (GRCm39) |
F525L |
probably benign |
Het |
|
Other mutations in P2ry14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01369:P2ry14
|
APN |
3 |
59,022,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:P2ry14
|
UTSW |
3 |
59,023,314 (GRCm39) |
missense |
probably benign |
0.01 |
R0511:P2ry14
|
UTSW |
3 |
59,023,449 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0518:P2ry14
|
UTSW |
3 |
59,022,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0638:P2ry14
|
UTSW |
3 |
59,022,869 (GRCm39) |
missense |
probably benign |
0.00 |
R1167:P2ry14
|
UTSW |
3 |
59,022,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R1540:P2ry14
|
UTSW |
3 |
59,022,686 (GRCm39) |
missense |
probably benign |
0.08 |
R1795:P2ry14
|
UTSW |
3 |
59,023,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R2025:P2ry14
|
UTSW |
3 |
59,022,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R2096:P2ry14
|
UTSW |
3 |
59,022,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R2265:P2ry14
|
UTSW |
3 |
59,022,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:P2ry14
|
UTSW |
3 |
59,022,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:P2ry14
|
UTSW |
3 |
59,022,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:P2ry14
|
UTSW |
3 |
59,022,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:P2ry14
|
UTSW |
3 |
59,022,989 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5721:P2ry14
|
UTSW |
3 |
59,022,452 (GRCm39) |
splice site |
probably null |
|
R5969:P2ry14
|
UTSW |
3 |
59,022,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R6077:P2ry14
|
UTSW |
3 |
59,022,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R6619:P2ry14
|
UTSW |
3 |
59,023,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R7452:P2ry14
|
UTSW |
3 |
59,023,466 (GRCm39) |
missense |
probably benign |
|
R8092:P2ry14
|
UTSW |
3 |
59,022,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:P2ry14
|
UTSW |
3 |
59,022,596 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9618:P2ry14
|
UTSW |
3 |
59,023,251 (GRCm39) |
missense |
probably damaging |
1.00 |
RF017:P2ry14
|
UTSW |
3 |
59,022,467 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:P2ry14
|
UTSW |
3 |
59,023,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCTTTCGCATAGAGCAGGGTC -3'
(R):5'- GTGGATGCTCATGCTTCTCC -3'
Sequencing Primer
(F):5'- ATAGAGCAGGGTCTCCTTCGTC -3'
(R):5'- GCTGTCCCAAACATCATCCTG -3'
|
Posted On |
2019-06-26 |