Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03201:Pth1r'

412997

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pth1r

Ensembl Gene

ENSMUSG00000032492

Gene Name

parathyroid hormone 1 receptor

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03201

Quality Score

Status

Chromosome

Chromosomal Location

110722085-110747145 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110722580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 484 (K484E)

Ref Sequence

ENSEMBL: ENSMUSP00000143298 (fasta)

Gene Model

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

AlphaFold

P41593

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006005
AA Change: K484E

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: K484E

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: K484E

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

SMART Domains

Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: K484E

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 damaging
Transcript: ENSMUST00000198865
AA Change: K484E

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

SMART Domains

Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: K484E

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: ENSMUST00000199862

SMART Domains

Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492

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

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,228,267	E105G	probably damaging	Het
Apc	A	G	18: 34,312,376	D757G	probably damaging	Het
Arpc3	A	T	5: 122,401,718	I45F	probably damaging	Het
C3	C	A	17: 57,222,249	V597L	probably damaging	Het
Ccdc181	A	G	1: 164,280,644	N299D	probably benign	Het
Cdr1	T	A	X: 61,185,548	Q4L	unknown	Het
Cep170	G	A	1: 176,736,888	S1464F	probably damaging	Het
Cfh	A	G	1: 140,102,819	Y826H	probably damaging	Het
Chic2	A	G	5: 75,011,293		probably benign	Het
Chrne	T	C	11: 70,618,512	H81R	probably benign	Het
Clec4e	A	G	6: 123,283,640	I153T	probably benign	Het
Col14a1	A	T	15: 55,408,904	D699V	unknown	Het
Cul3	T	G	1: 80,281,427	S379R	probably damaging	Het
Cyp3a11	T	A	5: 145,860,379	I397F	possibly damaging	Het
Dnah1	T	C	14: 31,300,949	K1077R	probably benign	Het
Dnajc18	A	G	18: 35,680,919	S266P	probably benign	Het
Dydc1	T	G	14: 41,078,690	L74R	probably damaging	Het
Echdc2	G	T	4: 108,169,870	A71S	possibly damaging	Het
Fer1l4	T	A	2: 156,044,730	D693V	probably benign	Het
Fscn3	T	C	6: 28,430,605	V258A	probably benign	Het
Herc2	T	A	7: 56,219,768	I4255N	probably damaging	Het
Il1rl2	A	G	1: 40,343,040	I171V	possibly damaging	Het
Ino80d	G	T	1: 63,058,308	T809K	probably damaging	Het
Lama2	A	T	10: 27,344,570	L433*	probably null	Het
Nlrp9c	A	T	7: 26,385,108	S349T	probably benign	Het
Parp11	T	C	6: 127,490,018	I124T	possibly damaging	Het
Parp8	A	T	13: 116,863,069		probably benign	Het
Pgm2	T	C	4: 99,970,039	F379L	probably damaging	Het
Phf21b	T	C	15: 84,787,247	H482R	probably benign	Het
Phka1	A	C	X: 102,541,110		probably null	Het
Plekhh1	T	C	12: 79,053,656	W133R	probably damaging	Het
Polr2a	A	C	11: 69,745,690	L405*	probably null	Het
Prrg3	T	A	X: 71,966,502	V3E	probably damaging	Het
Rcbtb1	T	C	14: 59,223,278	L230P	probably damaging	Het
Slc51a	G	A	16: 32,478,750	R110C	probably damaging	Het
Ssbp2	T	C	13: 91,524,601	Y27H	probably damaging	Het
Sult2a4	A	G	7: 13,931,767	V157A	probably damaging	Het
Tbx15	G	A	3: 99,351,980	S389N	probably benign	Het
Ttn	T	G	2: 76,841,080		probably benign	Het
Ube2n	T	C	10: 95,542,265		probably benign	Het
Wdr95	G	A	5: 149,581,887		probably null	Het
Wsb2	T	C	5: 117,376,555	S298P	possibly damaging	Het
Zc3h7a	T	C	16: 11,156,302		probably null	Het
Zfat	A	G	15: 68,165,909	C906R	probably damaging	Het
Zfp747	G	A	7: 127,374,008	T330I	probably damaging	Het
Zfp949	A	G	9: 88,568,664	R96G	probably benign	Het

Other mutations in Pth1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Pth1r	APN	9	110727130	missense	probably damaging	0.99
IGL01682:Pth1r	APN	9	110723706	splice site	probably null
IGL02004:Pth1r	APN	9	110742308	intron	probably benign
IGL02169:Pth1r	APN	9	110724435	missense	probably damaging	1.00
IGL02548:Pth1r	APN	9	110727680	missense	probably damaging	1.00
R0070:Pth1r	UTSW	9	110727550	splice site	probably null
R0881:Pth1r	UTSW	9	110731573	missense	probably damaging	1.00
R1022:Pth1r	UTSW	9	110729621	missense	probably benign	0.01
R1022:Pth1r	UTSW	9	110742227	missense	probably damaging	0.96
R1024:Pth1r	UTSW	9	110729621	missense	probably benign	0.01
R1024:Pth1r	UTSW	9	110742227	missense	probably damaging	0.96
R2071:Pth1r	UTSW	9	110727013	missense	probably benign	0.34
R2197:Pth1r	UTSW	9	110726990	unclassified	probably benign
R2206:Pth1r	UTSW	9	110723587	missense	probably damaging	1.00
R4184:Pth1r	UTSW	9	110742232	start codon destroyed	probably null
R4590:Pth1r	UTSW	9	110722271	missense	probably benign	0.04
R4638:Pth1r	UTSW	9	110727073	missense	possibly damaging	0.60
R4693:Pth1r	UTSW	9	110731624	missense	probably damaging	1.00
R5457:Pth1r	UTSW	9	110726454	missense	possibly damaging	0.88
R6235:Pth1r	UTSW	9	110722316	missense	possibly damaging	0.64
R6682:Pth1r	UTSW	9	110727251	splice site	probably null
R6683:Pth1r	UTSW	9	110727251	splice site	probably null
R6914:Pth1r	UTSW	9	110728016	splice site	probably null
R6942:Pth1r	UTSW	9	110728016	splice site	probably null
R7164:Pth1r	UTSW	9	110723747	missense	possibly damaging	0.66
R7638:Pth1r	UTSW	9	110722393	missense	probably benign
R7883:Pth1r	UTSW	9	110731558	missense	probably benign	0.02
R8966:Pth1r	UTSW	9	110725161	missense	possibly damaging	0.79
R9168:Pth1r	UTSW	9	110727136	missense	probably benign	0.31

Posted On

2016-08-02