Mutagenetix > Incidental Mutation

Incidental Mutation 'R2266:P2ry14'

242007

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

040266-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59022044-59060913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59022992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 165 (N165S)

Ref Sequence

ENSEMBL: ENSMUSP00000142934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000065220] [ENSMUST00000091112] [ENSMUST00000164225] [ENSMUST00000196081] [ENSMUST00000197220] [ENSMUST00000197841] [ENSMUST00000199659] [ENSMUST00000200358] [ENSMUST00000200673] [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: N156S

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

SMART Domains

Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381
AA Change: N156S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000091112
AA Change: N156S

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

SMART Domains

Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381
AA Change: N156S

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: N156S

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

SMART Domains

Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381
AA Change: N156S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197220
AA Change: N156S

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

SMART Domains

Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381
AA Change: N156S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197841
AA Change: N165S

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

SMART Domains

Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: N165S

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000198838

Meta Mutation Damage Score

0.4149

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bsn	T	A	9: 107,992,323 (GRCm39)	D1143V	probably damaging	Het
Cacna2d2	T	C	9: 107,390,479 (GRCm39)	V317A	probably damaging	Het
Cdh1	G	A	8: 107,388,635 (GRCm39)	V564I	probably benign	Het
Cep250	T	C	2: 155,818,090 (GRCm39)	V814A	probably benign	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyb561d1	A	T	3: 108,106,720 (GRCm39)	H166Q	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgkd	A	G	1: 87,855,540 (GRCm39)		probably benign	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Ecpas	A	T	4: 58,830,332 (GRCm39)		probably null	Het
Eid1	A	G	2: 125,515,344 (GRCm39)	D78G	possibly damaging	Het
Emid1	T	A	11: 5,094,331 (GRCm39)	Q60L	probably damaging	Het
Fam135a	A	T	1: 24,067,878 (GRCm39)	V801E	probably benign	Het
Foxh1	A	G	15: 76,552,820 (GRCm39)	V298A	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klra10	A	G	6: 130,246,264 (GRCm39)	V237A	probably benign	Het
Klre1	A	G	6: 129,562,593 (GRCm39)	K206R	probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Med23	T	G	10: 24,750,499 (GRCm39)	S109A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Naip6	A	G	13: 100,420,067 (GRCm39)	V1401A	possibly damaging	Het
Ncapg2	A	G	12: 116,393,296 (GRCm39)	E500G	probably damaging	Het
Nlrp12	T	C	7: 3,282,575 (GRCm39)	I775V	probably benign	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Polq	C	A	16: 36,882,515 (GRCm39)	Q1560K	possibly damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Ptprm	A	T	17: 67,032,846 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,152,011 (GRCm39)	S183T	possibly damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rttn	A	G	18: 89,082,295 (GRCm39)	N1407S	probably benign	Het
Sec14l1	A	T	11: 117,047,314 (GRCm39)	H664L	probably damaging	Het
Slc10a7	G	A	8: 79,236,264 (GRCm39)	G21S	probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spesp1	A	T	9: 62,180,834 (GRCm39)	L25M	probably damaging	Het
St6galnac1	G	A	11: 116,658,673 (GRCm39)	Q264*	probably null	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tnfsf13b	A	T	8: 10,057,306 (GRCm39)	R125S	probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vmn1r38	G	T	6: 66,753,433 (GRCm39)	Q228K	probably benign	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Xrn1	A	G	9: 95,888,765 (GRCm39)	D948G	possibly damaging	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zfp418	G	A	7: 7,185,807 (GRCm39)	R590K	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
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'- AAGATCTTCCTCGTGATGGCC -3'
(R):5'- AAAGTCCTTGGTGACTCAGGC -3'

Sequencing Primer
(F):5'- TCGTGATGGCCGTGTAGAAGAC -3'
(R):5'- AGGGTCTCTGCCGTCATC -3'

Posted On

2014-10-16