Incidental Mutation 'R5721:P2ry14'
| ID |
451432 |
| 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 |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59022044-59060913 bp(-) (GRCm39) |
| Type of Mutation |
splice site (995 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 59022452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040325]
[ENSMUST00000065220]
[ENSMUST00000091112]
[ENSMUST00000164225]
[ENSMUST00000196081]
[ENSMUST00000197220]
[ENSMUST00000197841]
[ENSMUST00000199659]
[ENSMUST00000200358]
[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 benign
Transcript: ENSMUST00000065220
AA Change: D336G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381
AA Change: D336G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091112
AA Change: D336G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381
AA Change: D336G
| 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: D336G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381
AA Change: D336G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197220
AA Change: D336G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381
AA Change: D336G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197841
AA Change: D345G
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: D345G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
304 |
1.2e-40 |
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 null
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 null
Transcript: ENSMUST00000200673
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198838
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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, 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
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 |
|
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 |
|
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'- GCTACAGACTTCCATTTTGCATG -3'
(R):5'- ACGGAAGGTCACTACAGCTG -3'
Sequencing Primer
(F):5'- CTTATCATCATATGCCTGCT -3'
(R):5'- GCTCTATGCGAAAGAATTCACTCTGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation