Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:Pth1r'

238430

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

040199-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2197 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

110551153-110576213 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CGGG to CGGGGGG at 110556058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142672 (fasta)

Gene Model

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

AlphaFold

P41593

Predicted Effect

probably benign
Transcript: ENSMUST00000006005

SMART Domains

Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492

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

SMART Domains

Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492

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

SMART Domains

Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492

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: 97.3%
20x: 95.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	T	11: 102,660,750 (GRCm39)	I94F	possibly damaging	Het
Ankrd50	A	T	3: 38,509,741 (GRCm39)	D875E	probably damaging	Het
Arf3	T	C	15: 98,639,285 (GRCm39)	N60S	probably benign	Het
Atxn2	T	G	5: 121,944,280 (GRCm39)		probably null	Het
B3gnt8	A	T	7: 25,328,373 (GRCm39)	I268F	probably benign	Het
Bmp1	T	A	14: 70,723,712 (GRCm39)	D708V	possibly damaging	Het
C1s2	A	G	6: 124,609,069 (GRCm39)	S163P	probably damaging	Het
C3	A	G	17: 57,526,623 (GRCm39)	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,404,602 (GRCm39)	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,207,029 (GRCm39)	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,875,058 (GRCm39)	M192K	possibly damaging	Het
Cdc5l	A	T	17: 45,718,745 (GRCm39)	F624I	probably benign	Het
Cdh8	T	A	8: 99,922,897 (GRCm39)	Q333L	probably damaging	Het
Ciapin1	T	A	8: 95,555,787 (GRCm39)	K128*	probably null	Het
Col6a3	T	A	1: 90,731,467 (GRCm39)	E988D	probably benign	Het
Crip3	A	G	17: 46,740,338 (GRCm39)	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,772,137 (GRCm39)	S753P	possibly damaging	Het
Dock6	T	A	9: 21,744,177 (GRCm39)	D126V	probably damaging	Het
Duxf4	T	A	10: 58,072,158 (GRCm39)	I19F	possibly damaging	Het
Dvl3	A	G	16: 20,342,506 (GRCm39)	E153G	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Exoc8	A	G	8: 125,622,477 (GRCm39)	L630P	probably damaging	Het
Fam227a	G	A	15: 79,507,668 (GRCm39)	T454M	probably damaging	Het
Flnc	A	T	6: 29,459,134 (GRCm39)	D2472V	probably damaging	Het
Galnt4	G	A	10: 98,944,509 (GRCm39)	G78E	probably damaging	Het
Ghr	A	T	15: 3,362,956 (GRCm39)	L172*	probably null	Het
Gjb5	A	T	4: 127,250,063 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,095,340 (GRCm39)	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,316,369 (GRCm39)		probably null	Het
Kcnab1	T	C	3: 65,017,368 (GRCm39)	I59T	probably benign	Het
Kcnh7	A	G	2: 62,607,950 (GRCm39)	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,123,870 (GRCm39)	S765P	probably damaging	Het
Lama1	A	T	17: 68,059,936 (GRCm39)	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,814,432 (GRCm39)		probably benign	Het
Llgl1	T	C	11: 60,600,865 (GRCm39)	S654P	possibly damaging	Het
Lvrn	G	T	18: 47,011,409 (GRCm39)	M455I	probably benign	Het
Mfsd12	T	A	10: 81,193,568 (GRCm39)	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,673,427 (GRCm39)	M783K	probably benign	Het
Mthfd1l	A	T	10: 3,978,399 (GRCm39)	T420S	probably damaging	Het
Mybphl	T	A	3: 108,284,635 (GRCm39)	I294N	probably damaging	Het
Or4c52	G	A	2: 89,845,768 (GRCm39)	G165S	probably damaging	Het
Or4f14b	T	C	2: 111,775,658 (GRCm39)	T48A	possibly damaging	Het
Or52ab7	T	A	7: 102,977,831 (GRCm39)	L46*	probably null	Het
Oxa1l	A	T	14: 54,598,924 (GRCm39)	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,279,185 (GRCm39)	I722F	probably damaging	Het
Pde4d	A	G	13: 110,084,924 (GRCm39)	D460G	probably damaging	Het
Rab11fip3	A	G	17: 26,287,152 (GRCm39)	S334P	probably benign	Het
Ror2	C	T	13: 53,439,816 (GRCm39)		probably null	Het
Scnn1g	G	C	7: 121,366,519 (GRCm39)	W572S	probably damaging	Het
Skint5	G	A	4: 113,798,046 (GRCm39)	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,817,949 (GRCm39)	G175V	probably damaging	Het
Spaca6	G	A	17: 18,056,416 (GRCm39)		probably null	Het
Tbc1d30	C	T	10: 121,140,312 (GRCm39)	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,087,435 (GRCm39)	I829T	probably benign	Het
Tmcc3	T	C	10: 94,414,780 (GRCm39)	S161P	probably damaging	Het
Tmem150b	A	G	7: 4,719,353 (GRCm39)	V189A	probably benign	Het
Tmem248	A	G	5: 130,260,597 (GRCm39)	D54G	probably benign	Het
Trmt1	T	A	8: 85,417,487 (GRCm39)	S121T	probably damaging	Het
Tyk2	C	T	9: 21,026,503 (GRCm39)	V698M	probably damaging	Het
Usp17la	A	G	7: 104,509,919 (GRCm39)	R175G	probably damaging	Het
Vav1	A	G	17: 57,610,140 (GRCm39)	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,078,249 (GRCm39)		probably null	Het
Vmn2r78	A	G	7: 86,570,535 (GRCm39)	Y351C	probably 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
R2071:Pth1r	UTSW	9	110,556,081 (GRCm39)	missense	probably benign	0.34
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'- GGTTTGCTGGCCTAAAG -3'
(R):5'- ACCCAAGGTGATGTCGCAC -3'

Posted On

2014-10-02