Mutagenetix > Incidental Mutations

Incidental Mutation 'R3011:Pth2r'

477392

Institutional Source

Beutler Lab

Gene Symbol

Pth2r

Ensembl Gene

ENSMUSG00000025946

Gene Name

parathyroid hormone 2 receptor

Synonyms

Pthr2

MMRRC Submission

040533-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3011 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65282056-65389244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65336988 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 97 (H97Y)

Ref Sequence

ENSEMBL: ENSMUSP00000114594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027083] [ENSMUST00000140190]

Predicted Effect

probably benign
Transcript: ENSMUST00000027083
AA Change: H102Y

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027083
Gene: ENSMUSG00000025946
AA Change: H102Y

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
HormR	59	134	8.15e-28	SMART
Pfam:7tm_2	139	406	5.1e-81	PFAM
low complexity region	447	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140190
AA Change: H97Y

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000114594
Gene: ENSMUSG00000025946
AA Change: H97Y

Domain	Start	End	E-Value	Type
HormR	54	129	8.15e-28	SMART
Pfam:7tm_2	134	174	1.1e-13	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	C	A	8: 84,166,910	Y235*	probably null	Het
Arhgap31	A	C	16: 38,601,907	C1266G	possibly damaging	Het
Cers5	A	G	15: 99,772,717		probably benign	Het
Clasp2	C	T	9: 113,901,513	T905M	probably damaging	Het
Clec16a	A	G	16: 10,611,111	N469S	probably benign	Het
Commd3	T	A	2: 18,674,688	V128D	probably damaging	Het
Cped1	A	G	6: 22,088,696	T253A	probably damaging	Het
Dnajc5b	A	T	3: 19,546,802	Y21F	probably damaging	Het
Fam160b1	T	A	19: 57,385,288	L660Q	probably damaging	Het
Gm14403	A	G	2: 177,508,993	D244G	probably benign	Het
Gm5414	T	C	15: 101,625,612	D312G	probably damaging	Het
Gm884	T	A	11: 103,613,103	T504S	possibly damaging	Het
Ifi204	T	C	1: 173,751,651	S543G	probably benign	Het
Itga11	T	A	9: 62,696,980	I50N	probably damaging	Het
Lct	C	T	1: 128,301,372	V795I	possibly damaging	Het
Map2	A	G	1: 66,414,612	D887G	probably damaging	Het
Mgat4e	T	A	1: 134,542,108	D66V	possibly damaging	Het
Nqo1	C	T	8: 107,389,111	R178H	probably benign	Het
Olfr190	A	G	16: 59,074,987	V31A	probably benign	Het
Olfr70	G	T	4: 43,696,624	A183E	probably damaging	Het
Otof	G	A	5: 30,382,840	A999V	probably damaging	Het
Phf20	A	G	2: 156,288,026	D506G	probably benign	Het
Snx18	G	A	13: 113,616,886	Q504*	probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
Srgap2	T	A	1: 131,310,591	Q520L	probably damaging	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tlr4	A	T	4: 66,839,254	K95*	probably null	Het
Tmem59l	A	T	8: 70,486,237	C96S	probably damaging	Het
Tmtc3	G	T	10: 100,447,582	P704T	possibly damaging	Het
Upp2	T	C	2: 58,790,095	V293A	probably damaging	Het
Vps72	A	G	3: 95,119,274	K177E	probably damaging	Het

Other mutations in Pth2r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Pth2r	APN	1	65388725	missense	probably benign	0.08
IGL02054:Pth2r	APN	1	65336781	missense	probably damaging	1.00
IGL02429:Pth2r	APN	1	65346839	missense	probably benign	0.05
R0277:Pth2r	UTSW	1	65388616	missense	probably benign
R0323:Pth2r	UTSW	1	65388616	missense	probably benign
R0415:Pth2r	UTSW	1	65388439	missense	probably benign
R1067:Pth2r	UTSW	1	65372348	missense	possibly damaging	0.92
R1463:Pth2r	UTSW	1	65363277	missense	probably damaging	0.96
R1566:Pth2r	UTSW	1	65388538	missense	possibly damaging	0.50
R1690:Pth2r	UTSW	1	65372303	missense	probably benign	0.02
R1710:Pth2r	UTSW	1	65336838	missense	possibly damaging	0.48
R1957:Pth2r	UTSW	1	65372355	missense	probably damaging	1.00
R2062:Pth2r	UTSW	1	65343562	missense	probably damaging	1.00
R2232:Pth2r	UTSW	1	65336769	missense	probably damaging	1.00
R2942:Pth2r	UTSW	1	65388476	missense	probably benign	0.00
R3857:Pth2r	UTSW	1	65322047	missense	probably damaging	0.98
R3858:Pth2r	UTSW	1	65322047	missense	probably damaging	0.98
R3859:Pth2r	UTSW	1	65322047	missense	probably damaging	0.98
R4540:Pth2r	UTSW	1	65282201	missense	probably benign
R4694:Pth2r	UTSW	1	65336761	missense	probably benign
R4777:Pth2r	UTSW	1	65388517	missense	possibly damaging	0.90
R4926:Pth2r	UTSW	1	65321984	missense	probably benign	0.27
R5209:Pth2r	UTSW	1	65388697	missense	probably benign	0.04
R5871:Pth2r	UTSW	1	65388637	missense	probably damaging	1.00
R6868:Pth2r	UTSW	1	65388479	missense	probably benign	0.02
R7132:Pth2r	UTSW	1	65322066	missense	probably benign	0.00
R7242:Pth2r	UTSW	1	65388620	missense	probably benign	0.42
R7677:Pth2r	UTSW	1	65388446	missense	probably benign	0.00
R7836:Pth2r	UTSW	1	65351563	missense	probably damaging	1.00
R8061:Pth2r	UTSW	1	65343501	missense	possibly damaging	0.64
Z1176:Pth2r	UTSW	1	65363308	missense	probably benign	0.20

Predicted Primers

Posted On

2017-05-15