Mutagenetix > Incidental Mutation

Incidental Mutation 'R5209:Pth2r'

403024

Institutional Source

Beutler Lab

Gene Symbol

Pth2r

Ensembl Gene

ENSMUSG00000025946

Gene Name

parathyroid hormone 2 receptor

Synonyms

Pthr2

MMRRC Submission

042784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5209 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65321215-65428403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65427856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 510 (T510S)

Ref Sequence

ENSEMBL: ENSMUSP00000027083 (fasta)

Gene Model

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

AlphaFold

Q91V95

Predicted Effect

probably benign
Transcript: ENSMUST00000027083
AA Change: T510S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027083
Gene: ENSMUSG00000025946
AA Change: T510S

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

Meta Mutation Damage Score

0.0724

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (57/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,832,130 (GRCm39)	V500A	probably benign	Het
Abcg4	A	G	9: 44,186,672 (GRCm39)	Y491H	probably damaging	Het
Adgb	C	A	10: 10,274,681 (GRCm39)	V759L	possibly damaging	Het
Adprhl1	T	A	8: 13,292,563 (GRCm39)	K243*	probably null	Het
Arhgap24	T	A	5: 103,040,015 (GRCm39)	D317E	probably benign	Het
Arhgef5	A	T	6: 43,250,634 (GRCm39)	I462F	probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Btbd18	A	G	2: 84,498,443 (GRCm39)	T694A	possibly damaging	Het
Ces1d	A	T	8: 93,901,816 (GRCm39)		probably benign	Het
Chmp2a	C	A	7: 12,766,601 (GRCm39)	V106F	probably damaging	Het
Cinp	T	C	12: 110,840,494 (GRCm39)	E219G	probably benign	Het
Col5a3	C	T	9: 20,689,939 (GRCm39)		probably benign	Het
Dnhd1	T	G	7: 105,345,667 (GRCm39)	S2271A	probably benign	Het
Epg5	T	A	18: 77,994,497 (GRCm39)	L376H	probably damaging	Het
Fam81a	T	C	9: 70,032,442 (GRCm39)	T17A	probably benign	Het
Fgd2	T	A	17: 29,587,350 (GRCm39)		probably null	Het
Gjc3	C	T	5: 137,955,533 (GRCm39)	V251I	probably benign	Het
Gnaz	T	G	10: 74,827,823 (GRCm39)	F192V	probably benign	Het
Hmgcr	T	C	13: 96,803,020 (GRCm39)		probably benign	Het
Mamdc4	G	T	2: 25,456,935 (GRCm39)	A614E	probably damaging	Het
Mapk8ip2	A	T	15: 89,343,490 (GRCm39)	Q713L	probably damaging	Het
Mettl1	T	C	10: 126,881,203 (GRCm39)	V238A	possibly damaging	Het
Ms4a4c	G	A	19: 11,393,802 (GRCm39)	G74E	probably damaging	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,230,736 (GRCm39)	Y113*	probably null	Het
Mylk	T	C	16: 34,742,995 (GRCm39)	L1169P	possibly damaging	Het
Npr3	A	G	15: 11,848,689 (GRCm39)	V426A	possibly damaging	Het
Or12d15	T	C	17: 37,693,721 (GRCm39)	S88P	probably damaging	Het
Or5au1	T	C	14: 52,273,410 (GRCm39)	T53A	probably benign	Het
Or6c202	A	C	10: 128,996,801 (GRCm39)	D17E	possibly damaging	Het
Or8b1c	T	A	9: 38,384,817 (GRCm39)	M258K	possibly damaging	Het
Pcdhb17	T	C	18: 37,620,514 (GRCm39)	F768S	probably damaging	Het
Piezo2	T	C	18: 63,166,000 (GRCm39)	N2077S	probably damaging	Het
Pkd1l2	G	A	8: 117,783,181 (GRCm39)	P713L	probably benign	Het
Primpol	T	C	8: 47,043,295 (GRCm39)	T333A	probably benign	Het
Ptprr	A	T	10: 115,998,514 (GRCm39)	E208V	probably damaging	Het
Rag1	T	C	2: 101,474,560 (GRCm39)	Y194C	probably benign	Het
Reep5	A	T	18: 34,490,293 (GRCm39)		probably null	Het
Rexo5	T	A	7: 119,433,522 (GRCm39)	Y493*	probably null	Het
Rgs9	T	C	11: 109,130,420 (GRCm39)		probably null	Het
Rps6ka1	A	T	4: 133,593,129 (GRCm39)	V218D	probably damaging	Het
Satb1	A	T	17: 52,116,235 (GRCm39)	M16K	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn14	A	G	11: 83,170,459 (GRCm39)	F395S	possibly damaging	Het
Spata31h1	T	C	10: 82,119,652 (GRCm39)	T4453A	possibly damaging	Het
Sptbn5	T	A	2: 119,902,483 (GRCm39)	I82F	probably benign	Het
Stam	T	A	2: 14,151,158 (GRCm39)	I505K	probably benign	Het
Tesk2	G	A	4: 116,581,895 (GRCm39)		probably benign	Het
Trappc12	T	C	12: 28,787,793 (GRCm39)	K430R	probably benign	Het
Trmo	T	C	4: 46,387,740 (GRCm39)	N34D	probably damaging	Het
Ubr2	C	A	17: 47,279,350 (GRCm39)	C686F	probably damaging	Het
Vdac1	C	T	11: 52,267,279 (GRCm39)	T60I	probably damaging	Het
Zfp652	G	C	11: 95,654,491 (GRCm39)	R478P	possibly damaging	Het

Other mutations in Pth2r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Pth2r	APN	1	65,427,884 (GRCm39)	missense	probably benign	0.08
IGL02054:Pth2r	APN	1	65,375,940 (GRCm39)	missense	probably damaging	1.00
IGL02429:Pth2r	APN	1	65,385,998 (GRCm39)	missense	probably benign	0.05
R0277:Pth2r	UTSW	1	65,427,775 (GRCm39)	missense	probably benign
R0323:Pth2r	UTSW	1	65,427,775 (GRCm39)	missense	probably benign
R0415:Pth2r	UTSW	1	65,427,598 (GRCm39)	missense	probably benign
R1067:Pth2r	UTSW	1	65,411,507 (GRCm39)	missense	possibly damaging	0.92
R1463:Pth2r	UTSW	1	65,402,436 (GRCm39)	missense	probably damaging	0.96
R1566:Pth2r	UTSW	1	65,427,697 (GRCm39)	missense	possibly damaging	0.50
R1690:Pth2r	UTSW	1	65,411,462 (GRCm39)	missense	probably benign	0.02
R1710:Pth2r	UTSW	1	65,375,997 (GRCm39)	missense	possibly damaging	0.48
R1957:Pth2r	UTSW	1	65,411,514 (GRCm39)	missense	probably damaging	1.00
R2062:Pth2r	UTSW	1	65,382,721 (GRCm39)	missense	probably damaging	1.00
R2232:Pth2r	UTSW	1	65,375,928 (GRCm39)	missense	probably damaging	1.00
R2942:Pth2r	UTSW	1	65,427,635 (GRCm39)	missense	probably benign	0.00
R3011:Pth2r	UTSW	1	65,376,147 (GRCm39)	missense	probably benign	0.05
R3857:Pth2r	UTSW	1	65,361,206 (GRCm39)	missense	probably damaging	0.98
R3858:Pth2r	UTSW	1	65,361,206 (GRCm39)	missense	probably damaging	0.98
R3859:Pth2r	UTSW	1	65,361,206 (GRCm39)	missense	probably damaging	0.98
R4540:Pth2r	UTSW	1	65,321,360 (GRCm39)	missense	probably benign
R4694:Pth2r	UTSW	1	65,375,920 (GRCm39)	missense	probably benign
R4777:Pth2r	UTSW	1	65,427,676 (GRCm39)	missense	possibly damaging	0.90
R4926:Pth2r	UTSW	1	65,361,143 (GRCm39)	missense	probably benign	0.27
R5871:Pth2r	UTSW	1	65,427,796 (GRCm39)	missense	probably damaging	1.00
R6868:Pth2r	UTSW	1	65,427,638 (GRCm39)	missense	probably benign	0.02
R7132:Pth2r	UTSW	1	65,361,225 (GRCm39)	missense	probably benign	0.00
R7242:Pth2r	UTSW	1	65,427,779 (GRCm39)	missense	probably benign	0.42
R7677:Pth2r	UTSW	1	65,427,605 (GRCm39)	missense	probably benign	0.00
R7836:Pth2r	UTSW	1	65,390,722 (GRCm39)	missense	probably damaging	1.00
R8061:Pth2r	UTSW	1	65,382,660 (GRCm39)	missense	possibly damaging	0.64
Z1176:Pth2r	UTSW	1	65,402,467 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GGAATCTGTCCATCGACTGG -3'
(R):5'- TGCCTTATTCCAGGATTCCAG -3'

Sequencing Primer
(F):5'- TTGTGGCGGCCAAAGGTAC -3'
(R):5'- AGGATTCCAGTCTTCCATCTTAG -3'

Posted On

2016-07-22