Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:P2ry14'

405278

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

042877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59022044-59060913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59022989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 166 (I166N)

Ref Sequence

ENSEMBL: ENSMUSP00000142934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000065220] [ENSMUST00000091112] [ENSMUST00000164225] [ENSMUST00000196081] [ENSMUST00000197220] [ENSMUST00000197841] [ENSMUST00000199659] [ENSMUST00000198838] [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

possibly damaging
Transcript: ENSMUST00000065220
AA Change: I157N

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066669
Gene: ENSMUSG00000036381
AA Change: I157N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091112
AA Change: I157N

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088642
Gene: ENSMUSG00000036381
AA Change: I157N

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

possibly damaging
Transcript: ENSMUST00000196081
AA Change: I157N

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142601
Gene: ENSMUSG00000036381
AA Change: I157N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197220
AA Change: I157N

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143070
Gene: ENSMUSG00000036381
AA Change: I157N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197841
AA Change: I166N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142934
Gene: ENSMUSG00000036381
AA Change: I166N

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: ENSMUST00000198838

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

Meta Mutation Damage Score

0.5017

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,034,056 (GRCm39)		noncoding transcript	Het
Acaca	A	G	11: 84,282,345 (GRCm39)	E2154G	probably benign	Het
Acacb	T	C	5: 114,380,013 (GRCm39)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,959,023 (GRCm39)		probably benign	Het
Amn1	T	A	6: 149,086,622 (GRCm39)		probably benign	Het
Arid1a	C	A	4: 133,418,366 (GRCm39)		probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,496 (GRCm39)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,687,473 (GRCm39)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,328,191 (GRCm39)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,808,946 (GRCm39)	H101R	probably benign	Het
Bicc1	G	A	10: 70,783,730 (GRCm39)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,928,981 (GRCm39)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,438,005 (GRCm39)	E523G	probably benign	Het
Cops6	G	C	5: 138,159,378 (GRCm39)		probably benign	Het
Cp	G	C	3: 20,020,480 (GRCm39)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,523,231 (GRCm39)	M52K	possibly damaging	Het
Dars1	A	T	1: 128,292,039 (GRCm39)	F480I	probably benign	Het
Diaph1	C	A	18: 38,030,603 (GRCm39)	E284*	probably null	Het
Diaph1	T	C	18: 38,030,633 (GRCm39)	M274V	unknown	Het
Dock8	G	A	19: 25,038,517 (GRCm39)	V68M	probably benign	Het
Elavl4	A	G	4: 110,068,627 (GRCm39)	F247L	possibly damaging	Het
Emc10	C	T	7: 44,145,863 (GRCm39)		probably benign	Het
Fbxw16	T	C	9: 109,265,712 (GRCm39)	D369G	probably benign	Het
Fgr	A	T	4: 132,724,811 (GRCm39)	D304V	probably benign	Het
Filip1l	G	A	16: 57,390,399 (GRCm39)	S91N	possibly damaging	Het
Haus8	A	G	8: 71,708,354 (GRCm39)	S103P	unknown	Het
Hscb	A	G	5: 110,982,658 (GRCm39)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 106,249,929 (GRCm39)	M347L	probably benign	Het
Jrk	C	A	15: 74,579,185 (GRCm39)	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,098,813 (GRCm39)	Y123*	probably null	Het
Lrrc37	A	G	11: 103,507,057 (GRCm39)		probably benign	Het
Mis18bp1	A	C	12: 65,203,817 (GRCm39)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,546,381 (GRCm39)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,391,414 (GRCm39)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,276,896 (GRCm39)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,167,254 (GRCm39)		probably null	Het
Or10x4	A	T	1: 174,218,791 (GRCm39)	Y52F	probably benign	Het
Or11h23	A	G	14: 50,947,900 (GRCm39)	T38A	possibly damaging	Het
Or11h23	A	G	14: 50,948,236 (GRCm39)	I150V	probably benign	Het
Or52w1	C	T	7: 105,017,620 (GRCm39)	T20I	probably benign	Het
Otud4	A	T	8: 80,399,521 (GRCm39)	Q744L	possibly damaging	Het
Pak2	T	A	16: 31,840,648 (GRCm39)	N478Y	probably damaging	Het
Papss2	A	G	19: 32,616,400 (GRCm39)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,885,453 (GRCm39)		probably null	Het
Peg3	C	A	7: 6,720,848 (GRCm39)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,707,974 (GRCm39)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,314,490 (GRCm39)	F1737L	probably benign	Het
Rex2	A	C	4: 147,142,442 (GRCm39)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf39	C	T	17: 37,258,092 (GRCm39)	A86V	probably damaging	Het
Ror1	A	T	4: 100,283,135 (GRCm39)	N400I	probably benign	Het
Slc38a8	C	T	8: 120,221,028 (GRCm39)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,786,654 (GRCm39)	V445A	probably benign	Het
Sptbn2	A	G	19: 4,768,936 (GRCm39)	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,734,957 (GRCm39)	F74L	probably benign	Het
Trappc11	G	C	8: 47,983,766 (GRCm39)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,121,695 (GRCm39)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,750,375 (GRCm39)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,619,110 (GRCm39)	V161A	probably benign	Het
Usp24	A	G	4: 106,219,554 (GRCm39)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,385,791 (GRCm39)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,692,570 (GRCm39)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,290,016 (GRCm39)	C517*	probably null	Het
Vps13a	A	T	19: 16,619,031 (GRCm39)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Xpo5	T	C	17: 46,547,848 (GRCm39)	V896A	probably benign	Het
Zfp2	T	C	11: 50,792,068 (GRCm39)		probably benign	Het
Zgrf1	G	A	3: 127,394,629 (GRCm39)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,836,774 (GRCm39)	D686G	possibly damaging	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
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'- AGATCTTCCTCGTGATGGCC -3'
(R):5'- AAAGTCCTTGGTGACTCAGG -3'

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

Posted On

2016-07-22