Incidental Mutation 'R6619:P2ry14'
| ID |
524261 |
| 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 |
044742-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6619 (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 59023154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 102
(Y102C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040325]
[ENSMUST00000065220]
[ENSMUST00000091112]
[ENSMUST00000164225]
[ENSMUST00000196081]
[ENSMUST00000197220]
[ENSMUST00000197841]
[ENSMUST00000200358]
[ENSMUST00000199659]
[ENSMUST00000200673]
[ENSMUST00000198838]
|
| 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 damaging
Transcript: ENSMUST00000065220
AA Change: Y102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381
AA Change: Y102C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091112
AA Change: Y102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381
AA Change: Y102C
| 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 damaging
Transcript: ENSMUST00000196081
AA Change: Y102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381
AA Change: Y102C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197220
AA Change: Y102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381
AA Change: Y102C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197841
AA Change: Y111C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: Y111C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
304 |
1.2e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200358
AA Change: Y102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142641
Gene: ENSMUSG00000036381
AA Change: Y102C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
110 |
8.6e-8 |
PFAM |
|
| 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: ENSMUST00000200673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198838
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
G |
A |
16: 29,167,833 (GRCm39) |
P109S |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,222,916 (GRCm39) |
K106R |
probably benign |
Het |
| Coro6 |
A |
G |
11: 77,357,030 (GRCm39) |
I111V |
possibly damaging |
Het |
| Crocc2 |
A |
G |
1: 93,118,223 (GRCm39) |
E382G |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,724 (GRCm39) |
N44K |
possibly damaging |
Het |
| Dnah5 |
C |
A |
15: 28,409,266 (GRCm39) |
N3561K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,335 (GRCm39) |
E879D |
probably benign |
Het |
| Frk |
A |
G |
10: 34,481,835 (GRCm39) |
Y375C |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,717,840 (GRCm39) |
R61* |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,027,872 (GRCm39) |
D146G |
probably damaging |
Het |
| Lancl2 |
C |
A |
6: 57,699,566 (GRCm39) |
T127K |
probably damaging |
Het |
| Large1 |
G |
A |
8: 73,609,892 (GRCm39) |
Q359* |
probably null |
Het |
| Mast2 |
C |
A |
4: 116,173,694 (GRCm39) |
E521* |
probably null |
Het |
| Mrc1 |
T |
A |
2: 14,299,597 (GRCm39) |
|
probably null |
Het |
| Obi1 |
T |
C |
14: 104,759,993 (GRCm39) |
H19R |
possibly damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,727 (GRCm39) |
I92T |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,425 (GRCm39) |
N266S |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,929,323 (GRCm39) |
D173E |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,406 (GRCm39) |
Y132C |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,842,702 (GRCm39) |
D807E |
probably benign |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,737 (GRCm39) |
N377K |
probably damaging |
Het |
| Phf13 |
T |
A |
4: 152,076,114 (GRCm39) |
N263Y |
probably damaging |
Het |
| Rab19 |
T |
A |
6: 39,365,060 (GRCm39) |
S107T |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,165,027 (GRCm39) |
F380I |
probably damaging |
Het |
| Reep1 |
T |
C |
6: 71,784,826 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1l |
C |
T |
8: 91,959,499 (GRCm39) |
E1134K |
possibly damaging |
Het |
| Serpina3m |
A |
T |
12: 104,357,766 (GRCm39) |
Y230F |
probably benign |
Het |
| Skint3 |
T |
C |
4: 112,111,061 (GRCm39) |
I62T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,823,279 (GRCm39) |
|
probably null |
Het |
| Sp4 |
G |
A |
12: 118,263,077 (GRCm39) |
T323I |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,913 (GRCm39) |
I1378T |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,986,428 (GRCm39) |
G128D |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 71,996,266 (GRCm39) |
N89D |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,321,475 (GRCm39) |
T191A |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,077,980 (GRCm39) |
|
probably null |
Het |
| Zfp418 |
G |
A |
7: 7,184,895 (GRCm39) |
C286Y |
probably damaging |
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 |
|
R7222:P2ry14
|
UTSW |
3 |
59,022,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCTTGACACCCTGGTTTGTCAG -3'
(R):5'- TATGGTCTTCATCACGGGGC -3'
Sequencing Primer
(F):5'- CAGGATGATGTTTGGGACAGC -3'
(R):5'- CCTCCTCAATGGGATATCAGGATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation