Mutagenetix > Incidental Mutation

Incidental Mutation 'R0518:P2ry14'

48276

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

038711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59022044-59060913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59022625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 287 (E287D)

Ref Sequence

ENSEMBL: ENSMUSP00000142934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000065220] [ENSMUST00000091112] [ENSMUST00000164225] [ENSMUST00000196081] [ENSMUST00000197220] [ENSMUST00000197841] [ENSMUST00000199659] [ENSMUST00000200673] [ENSMUST00000200358] [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 damaging
Transcript: ENSMUST00000065220
AA Change: E278D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381
AA Change: E278D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000091112
AA Change: E278D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381
AA Change: E278D

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: E278D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381
AA Change: E278D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197220
AA Change: E278D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381
AA Change: E278D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197841
AA Change: E287D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: E287D

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: 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: ENSMUST00000198838

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,181,112 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acsm5	T	C	7: 119,135,023 (GRCm39)	V327A	possibly damaging	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Akr1c14	T	C	13: 4,131,016 (GRCm39)	L236S	probably damaging	Het
Ammecr1l	C	T	18: 31,904,954 (GRCm39)	S65L	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Arhgef16	G	T	4: 154,375,491 (GRCm39)	P168T	probably damaging	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Cacna1s	C	A	1: 136,004,597 (GRCm39)	D132E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Coa3	T	A	11: 101,169,716 (GRCm39)	K13M	probably damaging	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Cryba2	T	C	1: 74,929,284 (GRCm39)	Y153C	possibly damaging	Het
Cryzl2	T	C	1: 157,292,000 (GRCm39)	V93A	probably damaging	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Cyp2r1	T	G	7: 114,152,135 (GRCm39)	H274P	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Dnai4	A	C	4: 102,921,727 (GRCm39)	Y464*	probably null	Het
Dnd1	A	G	18: 36,897,096 (GRCm39)	V350A	possibly damaging	Het
Dsg1b	A	T	18: 20,521,221 (GRCm39)	Q26L	probably benign	Het
Fam20b	C	A	1: 156,515,026 (GRCm39)	V280F	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Hsd3b7	A	G	7: 127,402,251 (GRCm39)	T330A	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Kti12	T	A	4: 108,705,776 (GRCm39)	V230E	possibly damaging	Het
Lhfpl7	T	A	5: 113,383,873 (GRCm39)	L97*	probably null	Het
Mgat5	T	A	1: 127,312,584 (GRCm39)	I241N	probably damaging	Het
Mkln1	A	G	6: 31,445,067 (GRCm39)	N321S	probably benign	Het
Mllt10	T	G	2: 18,076,017 (GRCm39)		probably null	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nipsnap3b	T	A	4: 53,021,343 (GRCm39)	F243I	probably damaging	Het
Ogfod1	T	A	8: 94,781,876 (GRCm39)		probably null	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
Pank4	A	T	4: 155,061,082 (GRCm39)	R510S	possibly damaging	Het
Pcsk6	T	A	7: 65,629,915 (GRCm39)	V347E	possibly damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pik3c2b	C	A	1: 133,033,730 (GRCm39)	P1578H	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Ppp1r26	A	G	2: 28,342,314 (GRCm39)	D648G	probably damaging	Het
Ptprs	A	G	17: 56,726,621 (GRCm39)		probably null	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Rigi	C	T	4: 40,216,354 (GRCm39)		probably null	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Ski	A	G	4: 155,243,743 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Slc25a36	A	T	9: 96,979,228 (GRCm39)	I71N	probably damaging	Het
Syne2	A	C	12: 76,155,636 (GRCm39)		probably null	Het
Tdrd5	C	A	1: 156,090,511 (GRCm39)	W845L	probably damaging	Het
Tfb2m	T	C	1: 179,365,389 (GRCm39)	I192V	possibly damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Trank1	A	C	9: 111,162,876 (GRCm39)	D45A	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Trim9	A	T	12: 70,393,359 (GRCm39)	L195Q	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn1r4	G	T	6: 56,933,883 (GRCm39)	C129F	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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
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'- TTGGTAACTCATACGCCAGCACCC -3'
(R):5'- AAGTCCAGCCGCAATATCTTCAGC -3'

Sequencing Primer
(F):5'- ATGTGATGTGCTACAGACTTCC -3'
(R):5'- CGCAATATCTTCAGCATCGTG -3'

Posted On

2013-06-12