Incidental Mutation 'R9618:P2ry14'
| ID |
724648 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59022044-59060913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59023251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 70
(M70L)
|
| 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 damaging
Transcript: ENSMUST00000065220
AA Change: M70L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381
AA Change: M70L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091112
AA Change: M70L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381
AA Change: M70L
| 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: M70L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381
AA Change: M70L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197220
AA Change: M70L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381
AA Change: M70L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
295 |
1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197841
AA Change: M79L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: M79L
| 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 damaging
Transcript: ENSMUST00000200358
AA Change: M70L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142641
Gene: ENSMUSG00000036381
AA Change: M70L
| 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: 98.8%
|
| 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 |
|---|
| 1110032F04Rik |
C |
T |
3: 68,777,402 (GRCm39) |
P121L |
probably damaging |
Het |
| 2310002L09Rik |
C |
A |
4: 73,868,934 (GRCm39) |
M1I |
probably null |
Het |
| 2510039O18Rik |
T |
A |
4: 148,029,873 (GRCm39) |
Y614* |
probably null |
Het |
| 4930562C15Rik |
A |
T |
16: 4,667,418 (GRCm39) |
S270C |
unknown |
Het |
| Ak9 |
A |
C |
10: 41,203,627 (GRCm39) |
T173P |
|
Het |
| Cfc1 |
T |
C |
1: 34,575,560 (GRCm39) |
L78P |
probably benign |
Het |
| Chrd |
T |
G |
16: 20,552,378 (GRCm39) |
C82W |
probably damaging |
Het |
| Cln6 |
T |
C |
9: 62,758,111 (GRCm39) |
V290A |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,196,975 (GRCm39) |
D342G |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 77,004,617 (GRCm39) |
D326G |
unknown |
Het |
| Cryzl2 |
G |
A |
1: 157,289,578 (GRCm39) |
R72H |
probably benign |
Het |
| Cyp2j6 |
A |
T |
4: 96,414,085 (GRCm39) |
H393Q |
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,274,681 (GRCm39) |
T428A |
probably benign |
Het |
| Ergic1 |
G |
A |
17: 26,827,619 (GRCm39) |
G25S |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,001,714 (GRCm39) |
I378V |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,990,313 (GRCm39) |
T1128S |
unknown |
Het |
| Gabrp |
A |
T |
11: 33,504,342 (GRCm39) |
Y324* |
probably null |
Het |
| Hadha |
G |
A |
5: 30,339,165 (GRCm39) |
T270M |
possibly damaging |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,114 (GRCm39) |
I35T |
probably damaging |
Het |
| Ino80d |
G |
A |
1: 63,101,342 (GRCm39) |
T428M |
probably damaging |
Het |
| Itgae |
T |
C |
11: 73,011,171 (GRCm39) |
F647S |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,653,732 (GRCm39) |
R899G |
possibly damaging |
Het |
| Kcna4 |
T |
A |
2: 107,126,374 (GRCm39) |
N369K |
probably benign |
Het |
| Kcnip3 |
G |
T |
2: 127,352,812 (GRCm39) |
P69Q |
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,034,320 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,707,315 (GRCm39) |
V289A |
probably benign |
Het |
| Muc21 |
GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG |
GGGGTGGG |
17: 35,932,935 (GRCm39) |
|
probably benign |
Het |
| Nxph1 |
T |
G |
6: 9,247,108 (GRCm39) |
N26K |
probably benign |
Het |
| Obox1 |
A |
G |
7: 15,289,624 (GRCm39) |
I138V |
possibly damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,343 (GRCm39) |
T74S |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,760 (GRCm39) |
Y177* |
probably null |
Het |
| Or7e176 |
G |
A |
9: 20,171,639 (GRCm39) |
V168M |
possibly damaging |
Het |
| Pcare |
T |
A |
17: 72,057,817 (GRCm39) |
Y620F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,188,794 (GRCm39) |
Y2869H |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,420 (GRCm39) |
R286G |
|
Het |
| Pygb |
C |
T |
2: 150,657,008 (GRCm39) |
R320W |
|
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 138,032,779 (GRCm39) |
S192T |
possibly damaging |
Het |
| Tex15 |
A |
G |
8: 34,062,397 (GRCm39) |
H609R |
probably benign |
Het |
| Tmem256 |
T |
A |
11: 69,730,210 (GRCm39) |
S73T |
possibly damaging |
Het |
| Tpr |
G |
T |
1: 150,321,979 (GRCm39) |
A2338S |
possibly damaging |
Het |
| Trub2 |
A |
T |
2: 29,673,346 (GRCm39) |
M119K |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,045 (GRCm39) |
M158V |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,583 (GRCm39) |
H319L |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,178,724 (GRCm39) |
I514F |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,297,891 (GRCm39) |
Y252* |
probably null |
Het |
| Wnt16 |
G |
T |
6: 22,297,892 (GRCm39) |
E253* |
probably null |
Het |
| Xkr4 |
A |
T |
1: 3,741,201 (GRCm39) |
V124E |
probably damaging |
Het |
| Zc3h13 |
G |
T |
14: 75,567,542 (GRCm39) |
R945L |
|
Het |
| Zfp445 |
T |
C |
9: 122,685,788 (GRCm39) |
N251D |
probably damaging |
Het |
| Zfp683 |
A |
T |
4: 133,782,965 (GRCm39) |
D143V |
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 |
|
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 |
|
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'- AATAGACGTCAGAAGGGGCTTC -3'
(R):5'- CCAGATCTTTGCCTCCAGAG -3'
Sequencing Primer
(F):5'- GGGGCTTCACAATTTTATAGTACCTG -3'
(R):5'- GGTGAGAAGATGAACAACTCCACC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation