Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Pth1r'

590079

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

045696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110551153-110576213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110551461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 546 (N546S)

Ref Sequence

ENSEMBL: ENSMUSP00000006005 (fasta)

Gene Model

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

AlphaFold

P41593

Predicted Effect

probably benign
Transcript: ENSMUST00000006005
AA Change: N546S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: N546S

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: N546S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: N546S

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: ENSMUST00000198865
AA Change: N546S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: N546S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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
Abo	T	G	2: 26,733,855 (GRCm39)	T115P	probably damaging	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Amdhd1	A	T	10: 93,370,360 (GRCm39)	Y159*	probably null	Het
Camp	T	C	9: 109,677,461 (GRCm39)	E124G		Het
Casq2	A	G	3: 101,994,016 (GRCm39)	E21G	possibly damaging	Het
Cbln1	A	T	8: 88,198,357 (GRCm39)	F116Y	probably damaging	Het
Cklf	A	T	8: 104,989,996 (GRCm39)	K143*	probably null	Het
Clca3a1	A	G	3: 144,457,723 (GRCm39)	I387T	probably damaging	Het
Cndp1	T	A	18: 84,654,174 (GRCm39)	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,184,670 (GRCm39)	M317K	possibly damaging	Het
Dmxl2	A	T	9: 54,365,078 (GRCm39)	I138K	unknown	Het
Eapp	A	G	12: 54,720,508 (GRCm39)	S236P	probably benign	Het
Efcab3	T	A	11: 104,927,625 (GRCm39)	M4798K	probably benign	Het
Efnb3	T	C	11: 69,448,046 (GRCm39)	H132R	possibly damaging	Het
Fam243	A	G	16: 92,117,805 (GRCm39)	V161A	probably damaging	Het
Fbn2	A	T	18: 58,238,208 (GRCm39)	N596K	probably damaging	Het
Fzd9	A	G	5: 135,279,484 (GRCm39)	W134R	probably damaging	Het
Gga2	A	G	7: 121,603,157 (GRCm39)	S180P	probably damaging	Het
Golga3	A	G	5: 110,353,694 (GRCm39)	T911A	probably benign	Het
Gstm1	C	T	3: 107,921,866 (GRCm39)		probably null	Het
Heg1	A	G	16: 33,547,867 (GRCm39)	T909A	probably damaging	Het
Herc2	T	C	7: 55,807,186 (GRCm39)	S2455P	probably benign	Het
Herc2	C	T	7: 55,870,273 (GRCm39)	R4349W	probably damaging	Het
Hivep2	T	G	10: 14,019,595 (GRCm39)	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,564,707 (GRCm39)		probably null	Het
Kbtbd13	G	T	9: 65,298,605 (GRCm39)	C110*	probably null	Het
Krt78	T	C	15: 101,859,318 (GRCm39)	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,288,995 (GRCm39)	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,307,352 (GRCm39)		probably null	Het
Lrrc14	A	G	15: 76,598,173 (GRCm39)	D301G	probably benign	Het
Lrrc71	C	A	3: 87,649,113 (GRCm39)	G352W	probably damaging	Het
Map3k9	A	G	12: 81,771,506 (GRCm39)	V694A	probably benign	Het
Mboat2	T	C	12: 24,989,325 (GRCm39)	S162P	probably damaging	Het
Megf11	C	A	9: 64,586,535 (GRCm39)	N422K	probably damaging	Het
Miga1	C	T	3: 151,982,324 (GRCm39)	S584N	probably benign	Het
Mindy2	A	G	9: 70,524,141 (GRCm39)	Y403H	probably damaging	Het
Mmd	C	T	11: 90,167,583 (GRCm39)	A204V	possibly damaging	Het
Mta3	A	T	17: 84,107,572 (GRCm39)	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,598,794 (GRCm39)	S43F	probably benign	Het
Nhsl3	T	C	4: 129,115,734 (GRCm39)	T1022A	probably benign	Het
Nphp4	T	C	4: 152,638,991 (GRCm39)	V874A	probably benign	Het
Nsd1	A	G	13: 55,460,141 (GRCm39)	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,190,792 (GRCm39)	H302R	probably benign	Het
Odc1	A	G	12: 17,600,003 (GRCm39)	Y389C	probably damaging	Het
Or52p2	A	G	7: 102,237,125 (GRCm39)	I275T	probably damaging	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Or8g37	T	G	9: 39,731,189 (GRCm39)	F85V	probably damaging	Het
Pcare	T	C	17: 72,057,880 (GRCm39)	D599G	probably damaging	Het
Pcdhb10	A	C	18: 37,545,365 (GRCm39)	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,465,675 (GRCm39)	C182G	probably damaging	Het
Pigv	T	C	4: 133,392,762 (GRCm39)	D136G	possibly damaging	Het
Polr1h	A	C	17: 37,268,722 (GRCm39)		probably null	Het
Pramel5	T	C	4: 143,998,010 (GRCm39)	E411G	possibly damaging	Het
Prkce	T	C	17: 86,476,028 (GRCm39)	V3A	probably benign	Het
Qrich2	C	T	11: 116,346,148 (GRCm39)	V1559I	probably benign	Het
Rbm20	A	C	19: 53,802,764 (GRCm39)	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,388,284 (GRCm39)	D393N	probably damaging	Het
Sf3b3	G	A	8: 111,547,445 (GRCm39)	R728C	probably damaging	Het
Spata31e1	G	T	13: 49,940,451 (GRCm39)	Q420K	probably benign	Het
Srcap	A	G	7: 127,137,920 (GRCm39)	N1090S	probably benign	Het
Syt4	A	T	18: 31,576,875 (GRCm39)	S160T	probably benign	Het
Tcstv6	A	T	13: 120,304,224 (GRCm39)		probably null	Het
Tfap2e	C	T	4: 126,615,727 (GRCm39)	V236M	probably damaging	Het
Thsd4	G	A	9: 60,301,755 (GRCm39)	T180M	probably damaging	Het
Tlr4	T	A	4: 66,758,443 (GRCm39)	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883 (GRCm39)	H136L	probably benign	Het
Tnpo2	T	A	8: 85,771,044 (GRCm39)	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,270,870 (GRCm39)	M111V	probably benign	Het
Tubb3	A	T	8: 124,147,900 (GRCm39)	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299 (GRCm39)	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,067,706 (GRCm39)	S334P	probably damaging	Het
Vps13c	A	G	9: 67,852,791 (GRCm39)	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,454,172 (GRCm39)	Y125H	probably benign	Het
Zfp747	A	T	7: 126,973,819 (GRCm39)	M117K	probably benign	Het
Zscan4c	A	T	7: 10,743,658 (GRCm39)	N419I	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
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
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
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'- AAACTCTGGCTTCTTGGTCC -3'
(R):5'- GACACTGGCATTGGACTTCAAG -3'

Sequencing Primer
(F):5'- GTCCATCTGCCCATGCCAG -3'
(R):5'- CTGGCATTGGACTTCAAGCGTAAAG -3'

Posted On

2019-10-24