Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:P2ry14'

577784

Institutional Source

Beutler Lab

Gene Symbol

P2ry14

Ensembl Gene

ENSMUSG00000036381

Gene Name

purinergic receptor P2Y, G-protein coupled, 14

Synonyms

Gpr105, P2Y14, A330108O13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59113855-59153618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59116045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 7 (G7D)

Ref Sequence

ENSEMBL: ENSMUSP00000142934 (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

SMART Domains

Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381

Domain	Start	End	E-Value	Type
Pfam:7tm_1	40	295	1e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091112

SMART Domains

Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381

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

SMART Domains

Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381

Domain	Start	End	E-Value	Type
Pfam:7tm_1	40	295	1e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197220

SMART Domains

Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381

Domain	Start	End	E-Value	Type
Pfam:7tm_1	40	295	1e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197841
AA Change: G7D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: G7D

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het

Other mutations in P2ry14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:P2ry14	APN	3	59115335	missense	probably damaging	1.00
R0091:P2ry14	UTSW	3	59115893	missense	probably benign	0.01
R0511:P2ry14	UTSW	3	59116028	missense	possibly damaging	0.89
R0518:P2ry14	UTSW	3	59115204	missense	probably damaging	1.00
R0638:P2ry14	UTSW	3	59115448	missense	probably benign	0.00
R1167:P2ry14	UTSW	3	59115131	missense	probably damaging	0.99
R1540:P2ry14	UTSW	3	59115265	missense	probably benign	0.08
R1795:P2ry14	UTSW	3	59115853	missense	probably damaging	1.00
R2025:P2ry14	UTSW	3	59115445	missense	probably damaging	1.00
R2096:P2ry14	UTSW	3	59115317	missense	probably damaging	1.00
R2265:P2ry14	UTSW	3	59115571	missense	probably damaging	1.00
R2266:P2ry14	UTSW	3	59115571	missense	probably damaging	1.00
R2267:P2ry14	UTSW	3	59115571	missense	probably damaging	1.00
R4664:P2ry14	UTSW	3	59115142	missense	probably damaging	1.00
R5294:P2ry14	UTSW	3	59115568	missense	possibly damaging	0.93
R5721:P2ry14	UTSW	3	59115031	splice site	probably null
R5969:P2ry14	UTSW	3	59115158	missense	probably damaging	1.00
R6077:P2ry14	UTSW	3	59115377	missense	probably damaging	0.99
R6619:P2ry14	UTSW	3	59115733	missense	probably damaging	1.00
R7222:P2ry14	UTSW	3	59115382	missense	probably benign	0.00
R8092:P2ry14	UTSW	3	59115446	missense	probably damaging	1.00
R8698:P2ry14	UTSW	3	59115175	missense	possibly damaging	0.78
R9618:P2ry14	UTSW	3	59115830	missense	probably damaging	1.00
RF017:P2ry14	UTSW	3	59115046	missense	probably benign	0.03
Z1176:P2ry14	UTSW	3	59115737	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTCTTGGAGCTGGGCAC -3'
(R):5'- CCACATTTCCTAGGTGTAAGTCAAG -3'

Sequencing Primer
(F):5'- CTCTTGGAGCTGGGCACATAAAAG -3'
(R):5'- CCTTTGAGATTCCTGAACACGGAG -3'

Posted On

2019-10-07