Mutagenetix > Incidental Mutation

Incidental Mutation 'R6868:Pth2r'

535999

Institutional Source

Beutler Lab

Gene Symbol

Pth2r

Ensembl Gene

ENSMUSG00000025946

Gene Name

parathyroid hormone 2 receptor

Synonyms

Pthr2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6868 (G1)

Quality Score

135.008

Status

Not validated

Chromosome

Chromosomal Location

65321215-65428403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65427638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 437 (A437E)

Ref Sequence

ENSEMBL: ENSMUSP00000027083 (fasta)

Gene Model

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

AlphaFold

Q91V95

Predicted Effect

probably benign
Transcript: ENSMUST00000027083
AA Change: A437E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000027083
Gene: ENSMUSG00000025946
AA Change: A437E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,559 (GRCm39)	N204I	probably damaging	Het
Aasdh	C	T	5: 77,039,527 (GRCm39)	V261M	probably damaging	Het
Adgrg7	A	G	16: 56,593,839 (GRCm39)	F126L	probably benign	Het
Agxt2	T	C	15: 10,373,855 (GRCm39)	L87P	probably damaging	Het
Alcam	G	A	16: 52,088,748 (GRCm39)	S554F	probably damaging	Het
Ambra1	T	C	2: 91,747,878 (GRCm39)	S1205P	possibly damaging	Het
Bst2	A	C	8: 71,987,404 (GRCm39)	V150G	unknown	Het
C3	T	C	17: 57,511,029 (GRCm39)	Y1659C	possibly damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cdk4	T	C	10: 126,900,870 (GRCm39)	V174A	probably benign	Het
Ces2h	T	A	8: 105,745,055 (GRCm39)	N396K	probably benign	Het
Cfap144	C	T	11: 58,683,732 (GRCm39)	D113N	probably damaging	Het
Chd7	T	C	4: 8,811,501 (GRCm39)		probably null	Het
Cnih4	A	G	1: 180,993,762 (GRCm39)	I76V	probably null	Het
Csmd2	G	A	4: 128,336,633 (GRCm39)	V1404I	probably benign	Het
Ctrb1	T	C	8: 112,416,035 (GRCm39)	D53G	probably benign	Het
Cul9	C	A	17: 46,833,109 (GRCm39)	R1323L	possibly damaging	Het
Dchs1	A	G	7: 105,412,710 (GRCm39)	V1230A	possibly damaging	Het
Dgat2	T	C	7: 98,807,513 (GRCm39)	D219G	probably benign	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dock9	G	T	14: 121,823,676 (GRCm39)	A1412E	probably benign	Het
Dscam	C	T	16: 96,631,140 (GRCm39)	V292M	probably damaging	Het
Fras1	T	A	5: 96,830,237 (GRCm39)	V1509E	probably benign	Het
Fryl	T	C	5: 73,226,146 (GRCm39)	Q1839R	probably damaging	Het
Gcat	A	G	15: 78,919,566 (GRCm39)	D177G	probably damaging	Het
Gss	T	C	2: 155,409,732 (GRCm39)	T235A	possibly damaging	Het
Ints10	T	A	8: 69,250,450 (GRCm39)	M114K	probably damaging	Het
Ints5	T	G	19: 8,874,750 (GRCm39)	L903R	probably damaging	Het
Lipo2	G	T	19: 33,725,862 (GRCm39)	P130Q	possibly damaging	Het
Megf11	G	A	9: 64,587,591 (GRCm39)	C494Y	probably damaging	Het
Milr1	T	C	11: 106,654,747 (GRCm39)	Y162H	probably damaging	Het
Mrc2	T	A	11: 105,219,244 (GRCm39)	I278N	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Myh15	G	A	16: 48,889,766 (GRCm39)	C119Y	probably damaging	Het
Nap1l1	G	A	10: 111,330,669 (GRCm39)	G358D	probably damaging	Het
Nav3	T	C	10: 109,529,027 (GRCm39)	I2178V	possibly damaging	Het
Nkx2-5	T	C	17: 27,060,268 (GRCm39)	E21G	probably damaging	Het
Nos2	C	T	11: 78,848,332 (GRCm39)	R967C	probably benign	Het
Or6c215	T	C	10: 129,638,037 (GRCm39)	D119G	probably damaging	Het
Parp10	T	C	15: 76,127,306 (GRCm39)	R44G	probably damaging	Het
Pced1b	A	G	15: 97,282,222 (GRCm39)	H87R	probably damaging	Het
Ppfia3	T	A	7: 45,003,036 (GRCm39)	L524F	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,176 (GRCm39)	T376A	probably benign	Het
Ppp4r4	T	C	12: 103,557,111 (GRCm39)	L449P	probably damaging	Het
Prkd1	T	C	12: 50,472,320 (GRCm39)	R198G	probably damaging	Het
Ptprh	A	T	7: 4,604,864 (GRCm39)	I60N	probably benign	Het
Pxmp2	C	T	5: 110,433,846 (GRCm39)	R9Q	probably damaging	Het
Scarb2	T	C	5: 92,633,168 (GRCm39)	K55E	probably benign	Het
Slc18b1	T	C	10: 23,680,132 (GRCm39)	V109A	possibly damaging	Het
Slx4ip	T	A	2: 136,842,130 (GRCm39)	D18E	probably damaging	Het
Stk40	A	G	4: 126,017,607 (GRCm39)	R45G	probably damaging	Het
Tbxas1	A	T	6: 39,061,240 (GRCm39)	Q513L	probably damaging	Het
Tcf4	A	T	18: 69,790,721 (GRCm39)		probably null	Het
Tmc6	T	A	11: 117,665,143 (GRCm39)	I377F	probably benign	Het
Tmem131l	T	C	3: 83,868,938 (GRCm39)	I146V	probably damaging	Het
Trac	T	A	14: 54,458,049 (GRCm39)		probably benign	Het
Trpm7	T	C	2: 126,679,334 (GRCm39)	D409G	probably damaging	Het
Usp39	A	T	6: 72,314,734 (GRCm39)	V224E	possibly damaging	Het
Vmn1r184	A	C	7: 25,966,727 (GRCm39)	M158L	probably benign	Het
Vmn2r120	T	A	17: 57,852,218 (GRCm39)	I33L	probably benign	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
R5209:Pth2r	UTSW	1	65,427,856 (GRCm39)	missense	probably benign	0.04
R5871:Pth2r	UTSW	1	65,427,796 (GRCm39)	missense	probably damaging	1.00
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'- AAAGGCTTTTGAGGTGTATGGAAC -3'
(R):5'- TCCTGCTCAGAACTACTCCAG -3'

Sequencing Primer
(F):5'- CACAGATCTGAAGAGTCCCTGG -3'
(R):5'- TCCAGACATAGCCAGGTAGAGTC -3'

Posted On

2018-10-18