Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:P2ry14'

46876

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

038705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59113855-59153618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59116028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 4 (S4P)

Ref Sequence

ENSEMBL: ENSMUSP00000142641 (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
AA Change: S4P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381
AA Change: S4P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000091112
AA Change: S4P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381
AA Change: S4P

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: S4P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381
AA Change: S4P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197220
AA Change: S4P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381
AA Change: S4P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197841
AA Change: S13P

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: S13P

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	304	1.2e-40	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000198838
AA Change: S4P

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

possibly damaging
Transcript: ENSMUST00000200358
AA Change: S4P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142641
Gene: ENSMUSG00000036381
AA Change: S4P

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	110	8.6e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200673
AA Change: S4P

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071 (GRCm38)		probably null	Het
A630095E13Rik	A	T	9: 36,638,577 (GRCm38)		probably null	Het
Abca13	G	T	11: 9,294,559 (GRCm38)	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458 (GRCm38)		probably benign	Het
Adam3	A	T	8: 24,695,315 (GRCm38)	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538 (GRCm38)	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571 (GRCm38)		probably benign	Het
Anapc4	A	G	5: 52,842,017 (GRCm38)		probably benign	Het
Ank3	A	T	10: 69,882,368 (GRCm38)	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059 (GRCm38)		probably benign	Het
Ankrd13b	T	A	11: 77,473,288 (GRCm38)	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055 (GRCm38)	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417 (GRCm38)		probably null	Het
Atg2a	T	C	19: 6,252,539 (GRCm38)	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153 (GRCm38)	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218 (GRCm38)		probably benign	Het
Bbof1	T	A	12: 84,430,271 (GRCm38)	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843 (GRCm38)		probably null	Het
C130079G13Rik	A	G	3: 59,936,350 (GRCm38)	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582 (GRCm38)	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296 (GRCm38)	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927 (GRCm38)	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176 (GRCm38)	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019 (GRCm38)	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191 (GRCm38)	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104 (GRCm38)	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185 (GRCm38)	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333 (GRCm38)		probably null	Het
Csmd1	C	T	8: 15,932,529 (GRCm38)	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405 (GRCm38)	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038 (GRCm38)		probably benign	Het
Dach1	A	T	14: 97,901,329 (GRCm38)	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022 (GRCm38)	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028 (GRCm38)	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841 (GRCm38)	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467 (GRCm38)	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126 (GRCm38)	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485 (GRCm38)	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692 (GRCm38)	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222 (GRCm38)	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980 (GRCm38)		probably benign	Het
Fam184a	G	T	10: 53,698,879 (GRCm38)	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401 (GRCm38)	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945 (GRCm38)		probably benign	Het
Gm9047	G	T	6: 29,478,170 (GRCm38)		probably benign	Het
Haus5	A	T	7: 30,659,067 (GRCm38)	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143 (GRCm38)		probably null	Het
Hr	T	A	14: 70,561,912 (GRCm38)	C641*	probably null	Het
Itga10	A	G	3: 96,658,174 (GRCm38)	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435 (GRCm38)	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723 (GRCm38)	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447 (GRCm38)	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607 (GRCm38)		probably benign	Het
Krt81	C	A	15: 101,463,627 (GRCm38)	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677 (GRCm38)	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785 (GRCm38)	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267 (GRCm38)	T299A	probably benign	Het
Med25	A	G	7: 44,885,078 (GRCm38)		probably null	Het
Mpg	A	T	11: 32,230,039 (GRCm38)	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918 (GRCm38)	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507 (GRCm38)	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317 (GRCm38)	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330 (GRCm38)	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769 (GRCm38)	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359 (GRCm38)	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm38)	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716 (GRCm38)	G629D	possibly damaging	Het
Nwd1	G	A	8: 72,682,005 (GRCm38)	C831Y	probably damaging	Het
Olfr1094	A	G	2: 86,829,606 (GRCm38)	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851 (GRCm38)	I111T	probably damaging	Het
Parp4	A	G	14: 56,635,715 (GRCm38)		probably benign	Het
Pclo	T	C	5: 14,679,398 (GRCm38)		probably benign	Het
Pclo	A	G	5: 14,678,285 (GRCm38)		probably benign	Het
Pcnt	A	T	10: 76,404,595 (GRCm38)	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757 (GRCm38)	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555 (GRCm38)	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235 (GRCm38)	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832 (GRCm38)	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282 (GRCm38)	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216 (GRCm38)		probably benign	Het
Ptbp2	T	G	3: 119,720,964 (GRCm38)	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069 (GRCm38)		probably benign	Het
Rbm6	G	A	9: 107,847,289 (GRCm38)	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783 (GRCm38)	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383 (GRCm38)	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Robo1	T	C	16: 73,013,125 (GRCm38)		probably null	Het
Samd12	G	A	15: 53,860,171 (GRCm38)	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700 (GRCm38)	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240 (GRCm38)	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570 (GRCm38)	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362 (GRCm38)	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462 (GRCm38)	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895 (GRCm38)	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545 (GRCm38)	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571 (GRCm38)		probably benign	Het
Slc4a10	G	A	2: 62,286,862 (GRCm38)	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860 (GRCm38)		probably benign	Het
Smg6	T	A	11: 74,929,058 (GRCm38)	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587 (GRCm38)	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984 (GRCm38)		probably null	Het
Sugp1	A	G	8: 70,059,363 (GRCm38)	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579 (GRCm38)	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620 (GRCm38)	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873 (GRCm38)	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245 (GRCm38)	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803 (GRCm38)	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718 (GRCm38)	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120 (GRCm38)	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715 (GRCm38)	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750 (GRCm38)	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440 (GRCm38)		probably benign	Het
Vmn2r55	C	T	7: 12,671,018 (GRCm38)	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549 (GRCm38)	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936 (GRCm38)	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522 (GRCm38)	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660 (GRCm38)	I1023T	possibly damaging	Het

Other mutations in P2ry14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:P2ry14	APN	3	59,115,335 (GRCm38)	missense	probably damaging	1.00
R0091:P2ry14	UTSW	3	59,115,893 (GRCm38)	missense	probably benign	0.01
R0518:P2ry14	UTSW	3	59,115,204 (GRCm38)	missense	probably damaging	1.00
R0638:P2ry14	UTSW	3	59,115,448 (GRCm38)	missense	probably benign	0.00
R1167:P2ry14	UTSW	3	59,115,131 (GRCm38)	missense	probably damaging	0.99
R1540:P2ry14	UTSW	3	59,115,265 (GRCm38)	missense	probably benign	0.08
R1795:P2ry14	UTSW	3	59,115,853 (GRCm38)	missense	probably damaging	1.00
R2025:P2ry14	UTSW	3	59,115,445 (GRCm38)	missense	probably damaging	1.00
R2096:P2ry14	UTSW	3	59,115,317 (GRCm38)	missense	probably damaging	1.00
R2265:P2ry14	UTSW	3	59,115,571 (GRCm38)	missense	probably damaging	1.00
R2266:P2ry14	UTSW	3	59,115,571 (GRCm38)	missense	probably damaging	1.00
R2267:P2ry14	UTSW	3	59,115,571 (GRCm38)	missense	probably damaging	1.00
R4664:P2ry14	UTSW	3	59,115,142 (GRCm38)	missense	probably damaging	1.00
R5294:P2ry14	UTSW	3	59,115,568 (GRCm38)	missense	possibly damaging	0.93
R5721:P2ry14	UTSW	3	59,115,031 (GRCm38)	splice site	probably null
R5969:P2ry14	UTSW	3	59,115,158 (GRCm38)	missense	probably damaging	1.00
R6077:P2ry14	UTSW	3	59,115,377 (GRCm38)	missense	probably damaging	0.99
R6619:P2ry14	UTSW	3	59,115,733 (GRCm38)	missense	probably damaging	1.00
R7222:P2ry14	UTSW	3	59,115,382 (GRCm38)	missense	probably benign	0.00
R7452:P2ry14	UTSW	3	59,116,045 (GRCm38)	missense	probably benign
R8092:P2ry14	UTSW	3	59,115,446 (GRCm38)	missense	probably damaging	1.00
R8698:P2ry14	UTSW	3	59,115,175 (GRCm38)	missense	possibly damaging	0.78
R9618:P2ry14	UTSW	3	59,115,830 (GRCm38)	missense	probably damaging	1.00
RF017:P2ry14	UTSW	3	59,115,046 (GRCm38)	missense	probably benign	0.03
Z1176:P2ry14	UTSW	3	59,115,737 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTTGGAGCTGGGCACATAAAAG -3'
(R):5'- TGGCAGCCTCCCAAAATGAACTG -3'

Sequencing Primer
(F):5'- GCTGGGCACATAAAAGAATATCC -3'
(R):5'- tcttctatcctgtcctttagtgtc -3'

Posted On

2013-06-11