Mutagenetix > Incidental Mutation

Incidental Mutation 'R2071:Pth1r'

227146

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

040076-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2071 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

110551153-110576213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110556081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 264 (I264T)

Ref Sequence

ENSEMBL: ENSMUSP00000006005 (fasta)

Gene Model

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

AlphaFold

P41593

Predicted Effect

probably benign
Transcript: ENSMUST00000006005
AA Change: I264T

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: I264T

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 benign
Transcript: ENSMUST00000166716
AA Change: I264T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: I264T

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 benign
Transcript: ENSMUST00000196057

SMART Domains

Protein: ENSMUSP00000143470
Gene: ENSMUSG00000032492

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198865
AA Change: I264T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: I264T

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 benign
Transcript: ENSMUST00000199791

SMART Domains

Protein: ENSMUSP00000142957
Gene: ENSMUSG00000032492

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199862

SMART Domains

Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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 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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,474 (GRCm39)	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Adam33	T	C	2: 130,897,266 (GRCm39)	T310A	probably benign	Het
Afm	A	G	5: 90,671,594 (GRCm39)	D92G	probably benign	Het
Arg1	C	T	10: 24,798,561 (GRCm39)	A30T	probably benign	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,488 (GRCm39)	V1474A	probably benign	Het
Atp12a	A	G	14: 56,603,466 (GRCm39)	K24E	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cep295	T	C	9: 15,252,860 (GRCm39)	R323G	probably damaging	Het
Chek2	T	C	5: 110,989,112 (GRCm39)		probably benign	Het
Chga	A	T	12: 102,529,122 (GRCm39)	K366N	probably damaging	Het
Chrm5	T	C	2: 112,309,572 (GRCm39)	K515E	probably null	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Eif1ad8	T	A	12: 87,563,822 (GRCm39)	F52L	probably benign	Het
Fzd3	A	G	14: 65,473,012 (GRCm39)	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,312,775 (GRCm39)	K846E	probably benign	Het
Gpatch11	T	C	17: 79,148,514 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,210,772 (GRCm39)	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,783,931 (GRCm39)	F72L	probably benign	Het
Kat14	T	C	2: 144,231,136 (GRCm39)	L181P	probably damaging	Het
Kifc3	A	T	8: 95,834,981 (GRCm39)		probably null	Het
Kntc1	G	T	5: 123,932,340 (GRCm39)		probably null	Het
Man2b1	G	T	8: 85,812,013 (GRCm39)	V156L	possibly damaging	Het
Mast1	T	C	8: 85,647,823 (GRCm39)	D517G	probably damaging	Het
Mc1r	T	C	8: 124,135,108 (GRCm39)	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,907,843 (GRCm39)	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725 (GRCm39)	I52N	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Nap1l1	C	T	10: 111,328,761 (GRCm39)	T230I	possibly damaging	Het
Niban1	T	C	1: 151,512,181 (GRCm39)	F28L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Nudt13	T	A	14: 20,354,045 (GRCm39)	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pde10a	A	T	17: 9,180,827 (GRCm39)	I754F	probably benign	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Pgap6	T	C	17: 26,341,017 (GRCm39)	Y176H	probably damaging	Het
Polr1a	T	A	6: 71,953,058 (GRCm39)	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076 (GRCm39)	V19A	probably benign	Het
Pramel34	T	G	5: 93,784,375 (GRCm39)	Q363P	probably damaging	Het
Ptprn	C	A	1: 75,231,788 (GRCm39)	G504C	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rev3l	T	A	10: 39,700,349 (GRCm39)	D1615E	probably benign	Het
Rhob	A	G	12: 8,549,232 (GRCm39)	M134T	probably benign	Het
Slc10a4	T	C	5: 73,164,840 (GRCm39)	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,905,370 (GRCm39)	L131P	probably damaging	Het
Slf1	T	A	13: 77,252,743 (GRCm39)	E259D	probably benign	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Sorl1	T	C	9: 41,890,753 (GRCm39)	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,979,623 (GRCm39)	I243N	possibly damaging	Het
Specc1	A	C	11: 62,008,701 (GRCm39)	K152N	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tcstv2b	A	T	13: 120,373,836 (GRCm39)	D151E	probably benign	Het
Tep1	T	C	14: 51,091,739 (GRCm39)	K601E	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,524,030 (GRCm39)	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,312,244 (GRCm39)	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,658,995 (GRCm39)	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het
Vmn2r103	A	T	17: 20,014,056 (GRCm39)	I283L	probably benign	Het
Xpr1	T	C	1: 155,166,026 (GRCm39)	T574A	probably benign	Het
Zfp408	A	G	2: 91,476,363 (GRCm39)	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,334,220 (GRCm39)	L266P	possibly damaging	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
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
R4693:Pth1r	UTSW	9	110,560,692 (GRCm39)	missense	probably damaging	1.00
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'- ACTGGGAGTCGCTAGCAGTAAG -3'
(R):5'- TGCGTGATGTCCCCACTTAC -3'

Sequencing Primer
(F):5'- TGGGGTGAGTTGAGCCGC -3'
(R):5'- ATGTCCCCACTTACGGCGC -3'

Posted On

2014-09-17