Mutagenetix > Incidental Mutation

Incidental Mutation 'R4693:Pth1r'

355045

Institutional Source

Beutler Lab

Gene Symbol

Pth1r

Ensembl Gene

ENSMUSG00000032492

Gene Name

parathyroid hormone 1 receptor

Synonyms

PTH/PTHrP receptor, PTH-related peptide receptor, PTH1R, PPR, Pthr1

MMRRC Submission

041944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110551153-110576213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110560692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 25 (V25A)

Ref Sequence

ENSEMBL: ENSMUSP00000142672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006005] [ENSMUST00000166716] [ENSMUST00000196057] [ENSMUST00000198865] [ENSMUST00000199791] [ENSMUST00000199862]

AlphaFold

P41593

Predicted Effect

probably damaging
Transcript: ENSMUST00000006005
AA Change: V31A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: V31A

Domain	Start	End	E-Value	Type
HormR	104	179	1.28e-25	SMART
Pfam:7tm_2	184	455	3.5e-89	PFAM
low complexity region	509	525	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166716
AA Change: V31A

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

SMART Domains

Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: V31A

Domain	Start	End	E-Value	Type
HormR	104	179	1.28e-25	SMART
Pfam:7tm_2	184	455	9.2e-89	PFAM
low complexity region	509	525	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196057
AA Change: V31A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143470
Gene: ENSMUSG00000032492
AA Change: V31A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
HormR	104	179	7.8e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198865
AA Change: V31A

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

SMART Domains

Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: V31A

Domain	Start	End	E-Value	Type
HormR	104	179	1.28e-25	SMART
Pfam:7tm_2	184	455	3.5e-89	PFAM
low complexity region	509	525	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000199791

SMART Domains

Protein: ENSMUSP00000142957
Gene: ENSMUSG00000032492

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000199862
AA Change: V25A

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

SMART Domains

Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492
AA Change: V25A

Domain	Start	End	E-Value	Type
HormR	98	173	7.8e-28	SMART

Meta Mutation Damage Score

0.1047

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (79/79)

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 family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice die in mid-gestation or shortly after birth depending on genetic background, are small in size, have short limbs, and accelerated differentiation of chondrocytes resulting in accelerated bone mineralization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 85,004,125 (GRCm39)	Y478H	probably damaging	Het
Adar	A	T	3: 89,643,247 (GRCm39)	H128L	probably damaging	Het
Angptl6	G	T	9: 20,786,598 (GRCm39)	D349E	probably damaging	Het
Anxa9	T	C	3: 95,204,667 (GRCm39)	T286A	probably benign	Het
Apobr	A	G	7: 126,186,019 (GRCm39)	N510S	probably damaging	Het
Atoh7	G	T	10: 62,936,275 (GRCm39)	R114L	probably benign	Het
Bank1	C	G	3: 135,953,437 (GRCm39)	R106P	probably damaging	Het
Best1	C	T	19: 9,974,499 (GRCm39)	G15D	probably damaging	Het
Best2	A	T	8: 85,737,832 (GRCm39)	F188I	probably damaging	Het
Ccdc88a	T	C	11: 29,432,241 (GRCm39)	Y344H	probably damaging	Het
Col6a5	A	G	9: 105,814,371 (GRCm39)	L547P	unknown	Het
Cyp19a1	A	T	9: 54,080,617 (GRCm39)	S247T	possibly damaging	Het
Cyp26a1	T	C	19: 37,686,925 (GRCm39)	S126P	probably benign	Het
Dab1	G	T	4: 104,536,750 (GRCm39)	C180F	probably damaging	Het
Dclk2	T	C	3: 86,722,400 (GRCm39)	D412G	possibly damaging	Het
Dspp	A	T	5: 104,325,928 (GRCm39)	S764C	unknown	Het
Dync1li1	C	A	9: 114,535,166 (GRCm39)	D143E	probably damaging	Het
Esm1	A	T	13: 113,346,594 (GRCm39)	D73V	probably damaging	Het
Etfdh	A	T	3: 79,513,110 (GRCm39)	V431E	probably damaging	Het
Fam83c	C	T	2: 155,672,154 (GRCm39)	R427H	probably damaging	Het
Galnt9	A	G	5: 110,763,375 (GRCm39)	Y93C	probably damaging	Het
Gm6818	G	A	7: 38,100,126 (GRCm39)		noncoding transcript	Het
Gosr2	A	G	11: 103,574,755 (GRCm39)	S114P	probably benign	Het
Grip1	G	A	10: 119,836,459 (GRCm39)	V444I	probably benign	Het
Gvin-ps3	T	G	7: 105,681,585 (GRCm39)		noncoding transcript	Het
Haus4	G	T	14: 54,787,256 (GRCm39)	A67E	probably benign	Het
Hectd2	T	A	19: 36,591,738 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,695 (GRCm39)	Y911H	probably benign	Het
Lim2	T	C	7: 43,080,105 (GRCm39)	Y31H	probably damaging	Het
Lims2	G	A	18: 32,077,552 (GRCm39)	R101H	probably benign	Het
Lrrc2	T	A	9: 110,799,161 (GRCm39)	M236K	probably damaging	Het
Lrrc37	T	A	11: 103,510,686 (GRCm39)	E427D	unknown	Het
Lrrk1	T	C	7: 65,912,235 (GRCm39)	Y1775C	probably damaging	Het
Mdga2	A	G	12: 66,844,407 (GRCm39)	V197A	possibly damaging	Het
Mfhas1	T	A	8: 36,056,329 (GRCm39)	L268Q	probably damaging	Het
Mlh1	A	G	9: 111,084,726 (GRCm39)	I216T	probably damaging	Het
Mrc2	G	A	11: 105,234,528 (GRCm39)	C1016Y	probably benign	Het
Mvp	C	A	7: 126,597,500 (GRCm39)	V168F	probably damaging	Het
Mybphl	A	G	3: 108,282,494 (GRCm39)	T176A	probably benign	Het
Myt1	T	A	2: 181,437,532 (GRCm39)	L81Q	probably damaging	Het
Ncbp3	T	C	11: 72,966,503 (GRCm39)	L453S	probably benign	Het
Or4c1	T	A	2: 89,133,621 (GRCm39)	E105V	probably benign	Het
Or4c114	T	C	2: 88,905,412 (GRCm39)	T8A	possibly damaging	Het
Or55b10	T	A	7: 102,143,659 (GRCm39)	I108F	probably damaging	Het
Or5b125-ps1	C	A	19: 13,056,226 (GRCm39)		noncoding transcript	Het
Or5l14	A	T	2: 87,793,053 (GRCm39)	F61Y	probably benign	Het
Pak4	A	T	7: 28,263,674 (GRCm39)	M354K	probably damaging	Het
Pax3	T	C	1: 78,173,383 (GRCm39)	T2A	probably benign	Het
Pcdh17	A	G	14: 84,770,960 (GRCm39)	D1146G	probably damaging	Het
Pcyt1a	T	C	16: 32,289,042 (GRCm39)		probably benign	Het
Pfkp	C	T	13: 6,650,671 (GRCm39)	G467D	possibly damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Ptprf	T	A	4: 118,068,219 (GRCm39)	E1772D	probably benign	Het
Sall2	T	C	14: 52,551,935 (GRCm39)	H420R	probably damaging	Het
Sbds	G	A	5: 130,279,816 (GRCm39)	R63W	probably damaging	Het
Sccpdh	A	G	1: 179,495,975 (GRCm39)	T19A	possibly damaging	Het
Scn8a	A	T	15: 100,913,572 (GRCm39)	D988V	probably damaging	Het
Slamf6	C	T	1: 171,761,680 (GRCm39)	Q34*	probably null	Het
Slc22a6	T	A	19: 8,601,016 (GRCm39)	I403N	probably damaging	Het
Sox5	T	C	6: 143,781,042 (GRCm39)	Y574C	probably damaging	Het
Sptbn5	T	A	2: 119,889,897 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,137,716 (GRCm39)	V1022E	probably damaging	Het
Tbx3	G	A	5: 119,815,635 (GRCm39)	E292K	possibly damaging	Het
Tbx5	A	T	5: 119,979,964 (GRCm39)	H170L	probably damaging	Het
Tcf12	A	T	9: 71,776,249 (GRCm39)		probably benign	Het
Themis	G	A	10: 28,658,647 (GRCm39)	R558H	probably damaging	Het
Tiam1	T	C	16: 89,640,170 (GRCm39)	E849G	possibly damaging	Het
Vav3	A	G	3: 109,470,534 (GRCm39)		probably benign	Het
Vmn2r90	T	A	17: 17,953,956 (GRCm39)	C707S	possibly damaging	Het
Vmn2r96	T	G	17: 18,803,270 (GRCm39)	N201K	probably benign	Het
Zfp148	C	T	16: 33,288,505 (GRCm39)	R207C	probably damaging	Het
Zfp648	G	T	1: 154,080,152 (GRCm39)	A104S	probably benign	Het

Other mutations in Pth1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Pth1r	APN	9	110,556,198 (GRCm39)	missense	probably damaging	0.99
IGL01682:Pth1r	APN	9	110,552,774 (GRCm39)	splice site	probably null
IGL02004:Pth1r	APN	9	110,571,376 (GRCm39)	intron	probably benign
IGL02169:Pth1r	APN	9	110,553,503 (GRCm39)	missense	probably damaging	1.00
IGL02548:Pth1r	APN	9	110,556,748 (GRCm39)	missense	probably damaging	1.00
IGL03201:Pth1r	APN	9	110,551,648 (GRCm39)	missense	probably damaging	1.00
R0070:Pth1r	UTSW	9	110,556,618 (GRCm39)	splice site	probably null
R0881:Pth1r	UTSW	9	110,560,641 (GRCm39)	missense	probably damaging	1.00
R1022:Pth1r	UTSW	9	110,571,295 (GRCm39)	missense	probably damaging	0.96
R1022:Pth1r	UTSW	9	110,558,689 (GRCm39)	missense	probably benign	0.01
R1024:Pth1r	UTSW	9	110,571,295 (GRCm39)	missense	probably damaging	0.96
R1024:Pth1r	UTSW	9	110,558,689 (GRCm39)	missense	probably benign	0.01
R2071:Pth1r	UTSW	9	110,556,081 (GRCm39)	missense	probably benign	0.34
R2197:Pth1r	UTSW	9	110,556,058 (GRCm39)	unclassified	probably benign
R2206:Pth1r	UTSW	9	110,552,655 (GRCm39)	missense	probably damaging	1.00
R4184:Pth1r	UTSW	9	110,571,300 (GRCm39)	start codon destroyed	probably null
R4590:Pth1r	UTSW	9	110,551,339 (GRCm39)	missense	probably benign	0.04
R4638:Pth1r	UTSW	9	110,556,141 (GRCm39)	missense	possibly damaging	0.60
R5457:Pth1r	UTSW	9	110,555,522 (GRCm39)	missense	possibly damaging	0.88
R6235:Pth1r	UTSW	9	110,551,384 (GRCm39)	missense	possibly damaging	0.64
R6682:Pth1r	UTSW	9	110,556,319 (GRCm39)	splice site	probably null
R6683:Pth1r	UTSW	9	110,556,319 (GRCm39)	splice site	probably null
R6914:Pth1r	UTSW	9	110,557,084 (GRCm39)	splice site	probably null
R6942:Pth1r	UTSW	9	110,557,084 (GRCm39)	splice site	probably null
R7164:Pth1r	UTSW	9	110,552,815 (GRCm39)	missense	possibly damaging	0.66
R7638:Pth1r	UTSW	9	110,551,461 (GRCm39)	missense	probably benign
R7883:Pth1r	UTSW	9	110,560,626 (GRCm39)	missense	probably benign	0.02
R8966:Pth1r	UTSW	9	110,554,229 (GRCm39)	missense	possibly damaging	0.79
R9168:Pth1r	UTSW	9	110,556,204 (GRCm39)	missense	probably benign	0.31
R9585:Pth1r	UTSW	9	110,573,847 (GRCm39)	missense	probably benign	0.00
R9773:Pth1r	UTSW	9	110,556,233 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TTTCTTGAGCCCACCCAAGG -3'
(R):5'- GGTCCTAGCCATTGAGTTACC -3'

Sequencing Primer
(F):5'- TCTTGAGCCCACCCAAGGTTAATG -3'
(R):5'- GAGTTACCGTGGCTTCAAAC -3'

Posted On

2015-10-21