Incidental Mutation 'R2096:P2ry14'
| ID |
232086 |
| 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 |
040100-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2096 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59022044-59060913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59022738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 250
(V250I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040325]
[ENSMUST00000065220]
[ENSMUST00000091112]
[ENSMUST00000164225]
[ENSMUST00000196081]
[ENSMUST00000197220]
[ENSMUST00000197841]
[ENSMUST00000199659]
[ENSMUST00000200673]
[ENSMUST00000198838]
[ENSMUST00000200358]
|
| 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: V241I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381
AA Change: V241I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091112
AA Change: V241I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381
AA Change: V241I
| 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: V241I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381
AA Change: V241I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197220
AA Change: V241I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381
AA Change: V241I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197841
AA Change: V250I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: V250I
| 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 benign
Transcript: ENSMUST00000200673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198838
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,709,195 (GRCm39) |
S120P |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,036,743 (GRCm39) |
Y185* |
probably null |
Het |
| Atg101 |
T |
A |
15: 101,188,382 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Btf3 |
T |
A |
13: 98,449,659 (GRCm39) |
Q109L |
possibly damaging |
Het |
| Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,071,844 (GRCm39) |
|
probably null |
Het |
| Cd209f |
A |
G |
8: 4,155,537 (GRCm39) |
V17A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,656 (GRCm39) |
V2208A |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,828,713 (GRCm39) |
C182R |
probably damaging |
Het |
| Ctsl |
A |
G |
13: 64,516,840 (GRCm39) |
|
probably null |
Het |
| Cyp3a44 |
G |
T |
5: 145,725,215 (GRCm39) |
Q329K |
probably damaging |
Het |
| Dcpp1 |
A |
T |
17: 24,099,971 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
G |
8: 110,280,891 (GRCm39) |
V831A |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,791,858 (GRCm39) |
M22T |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,346,742 (GRCm39) |
E2615K |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,426,713 (GRCm39) |
|
probably null |
Het |
| Gm12888 |
T |
G |
4: 121,176,655 (GRCm39) |
I49L |
probably benign |
Het |
| Insyn2b |
C |
A |
11: 34,352,936 (GRCm39) |
S326Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,815,252 (GRCm39) |
M194K |
probably damaging |
Het |
| Mael |
G |
T |
1: 166,053,244 (GRCm39) |
Q254K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,361,322 (GRCm39) |
D461G |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,281,825 (GRCm39) |
N819S |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,739,871 (GRCm39) |
N390Y |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,434 (GRCm39) |
I77T |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,485,987 (GRCm39) |
D1870E |
probably benign |
Het |
| Phf2 |
T |
A |
13: 48,985,589 (GRCm39) |
K64* |
probably null |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ppa2 |
A |
G |
3: 133,032,445 (GRCm39) |
T97A |
probably damaging |
Het |
| Psd |
G |
A |
19: 46,313,088 (GRCm39) |
|
probably null |
Het |
| Psg23 |
T |
A |
7: 18,348,668 (GRCm39) |
E46D |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rab11b |
A |
G |
17: 33,967,976 (GRCm39) |
Y74H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,383 (GRCm39) |
S194R |
probably benign |
Het |
| Sema4d |
A |
T |
13: 51,864,037 (GRCm39) |
I414N |
probably damaging |
Het |
| Serpinb1a |
A |
T |
13: 33,031,437 (GRCm39) |
D120E |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,524,861 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Spats2l |
T |
C |
1: 57,985,458 (GRCm39) |
S504P |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Sspo |
G |
T |
6: 48,438,608 (GRCm39) |
V1559L |
probably benign |
Het |
| Tas2r118 |
T |
G |
6: 23,969,912 (GRCm39) |
I50L |
possibly damaging |
Het |
| Tdrd3 |
C |
T |
14: 87,743,788 (GRCm39) |
Q573* |
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,667,835 (GRCm39) |
S786P |
possibly damaging |
Het |
| Tlnrd1 |
G |
A |
7: 83,532,062 (GRCm39) |
T123I |
probably benign |
Het |
| Tmem214 |
T |
A |
5: 31,033,714 (GRCm39) |
L555H |
probably damaging |
Het |
| Tmprss12 |
T |
A |
15: 100,183,117 (GRCm39) |
M153K |
probably benign |
Het |
| Tmprss9 |
G |
A |
10: 80,725,268 (GRCm39) |
G410S |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,116 (GRCm39) |
M853K |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,655,929 (GRCm39) |
I247T |
possibly damaging |
Het |
| Zcchc7 |
C |
A |
4: 44,931,059 (GRCm39) |
P404T |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
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 |
|
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 |
|
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'- GACTTTGAGTGACATGTGTAACTTC -3'
(R):5'- AGTGGCACAAGGCGTCTAAC -3'
Sequencing Primer
(F):5'- AGACTTCTCTAAATGGCTGGC -3'
(R):5'- GTGGCACAAGGCGTCTAACTATATC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation