Mutagenetix > Incidental Mutation

Incidental Mutation 'R6235:Pth1r'

504879

Institutional Source

Beutler Lab

Gene Symbol

Pth1r

Ensembl Gene

ENSMUSG00000032492

Gene Name

parathyroid hormone 1 receptor

Synonyms

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

MMRRC Submission

044433-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110722085-110747145 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110722316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 572 (E572K)

Ref Sequence

ENSEMBL: ENSMUSP00000006005 (fasta)

Gene Model

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

AlphaFold

P41593

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006005
AA Change: E572K

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: E572K

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: E572K

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: E572K

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: E572K

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: E572K

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

95% (73/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,491,710 (GRCm38)	F716L	probably benign	Het
Akip1	A	G	7: 109,707,413 (GRCm38)	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,564,457 (GRCm38)	I278F	probably benign	Het
Aplnr	A	G	2: 85,137,626 (GRCm38)	T332A	probably benign	Het
Aqp4	A	G	18: 15,398,113 (GRCm38)	V197A	probably damaging	Het
Arid4a	A	T	12: 71,069,772 (GRCm38)		probably null	Het
Baiap2	A	T	11: 119,981,408 (GRCm38)	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,471,792 (GRCm38)		probably null	Het
Cep78	T	C	19: 15,976,486 (GRCm38)		probably null	Het
Cldn3	T	C	5: 134,986,719 (GRCm38)	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,694,635 (GRCm38)	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,407,699 (GRCm38)	Y336*	probably null	Het
Copg2	A	G	6: 30,816,071 (GRCm38)	I443T	probably damaging	Het
Crhbp	C	A	13: 95,443,850 (GRCm38)	A81S	probably damaging	Het
Csad	A	T	15: 102,178,606 (GRCm38)	V410D	probably damaging	Het
Ctps	G	A	4: 120,558,806 (GRCm38)	L207F	probably benign	Het
Dab2ip	A	G	2: 35,723,087 (GRCm38)	E1003G	probably damaging	Het
Ddx31	C	G	2: 28,844,842 (GRCm38)	A5G	probably benign	Het
Dnah12	A	T	14: 26,854,804 (GRCm38)	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,980,904 (GRCm38)		probably benign	Het
Fbxw28	C	A	9: 109,326,190 (GRCm38)	W356C	probably damaging	Het
Gimap6	G	T	6: 48,702,457 (GRCm38)	T215K	probably benign	Het
Gm5346	T	G	8: 43,625,912 (GRCm38)	N425T	probably benign	Het
Hspa4	C	T	11: 53,262,939 (GRCm38)	E702K	probably benign	Het
Hunk	A	G	16: 90,432,706 (GRCm38)	I152V	probably damaging	Het
Itk	T	C	11: 46,336,428 (GRCm38)	E456G	probably benign	Het
Krt40	G	A	11: 99,543,094 (GRCm38)	A22V	possibly damaging	Het
Lars2	T	C	9: 123,411,880 (GRCm38)	V204A	probably damaging	Het
Lipo1	A	G	19: 33,783,563 (GRCm38)	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,588,177 (GRCm38)	R809W	probably damaging	Het
Magi3	C	T	3: 104,016,068 (GRCm38)	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,158,408 (GRCm38)	V47E	probably damaging	Het
Mpdz	T	C	4: 81,385,281 (GRCm38)	E140G	probably damaging	Het
Myo1d	T	C	11: 80,692,944 (GRCm38)	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113 (GRCm38)	Y26*	probably null	Het
Ntng2	C	A	2: 29,227,979 (GRCm38)	E152D	probably damaging	Het
Olfr1036	T	C	2: 86,075,166 (GRCm38)	L142P	possibly damaging	Het
Olfr1490	C	A	19: 13,654,781 (GRCm38)	C117*	probably null	Het
Otud3	A	T	4: 138,901,901 (GRCm38)	V185D	probably damaging	Het
Parp6	C	T	9: 59,630,815 (GRCm38)	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,716,430 (GRCm38)	T497A	probably benign	Het
Ppp1r18	A	G	17: 35,873,877 (GRCm38)	E140G	probably damaging	Het
Prl3b1	T	C	13: 27,247,945 (GRCm38)	L151P	probably damaging	Het
Ptprq	T	A	10: 107,635,338 (GRCm38)	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,516 (GRCm38)	T480A	possibly damaging	Het
Rax	T	A	18: 65,935,161 (GRCm38)	Q291L	unknown	Het
Reck	T	C	4: 43,937,450 (GRCm38)	L734P	probably damaging	Het
Rgmb	A	G	17: 15,820,819 (GRCm38)	F169L	probably damaging	Het
Rhobtb3	T	C	13: 75,892,910 (GRCm38)	I426M	probably damaging	Het
Ring1	C	A	17: 34,023,306 (GRCm38)	A76S	probably damaging	Het
Robo3	T	G	9: 37,420,929 (GRCm38)	Y891S	probably damaging	Het
Rpusd2	A	G	2: 119,034,857 (GRCm38)	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985 (GRCm38)	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909 (GRCm38)		probably benign	Homo
Ryr1	G	T	7: 29,116,181 (GRCm38)	Q95K	probably benign	Het
S1pr4	T	A	10: 81,498,882 (GRCm38)	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,461,335 (GRCm38)	V1689G	probably damaging	Het
Sdhb	A	G	4: 140,973,673 (GRCm38)	N147D	probably damaging	Het
Sdk1	A	T	5: 142,034,426 (GRCm38)	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,266,532 (GRCm38)	M232K	probably damaging	Het
Sipa1l2	A	T	8: 125,474,871 (GRCm38)	V646E	probably damaging	Het
Slc38a1	A	T	15: 96,578,792 (GRCm38)	I396N	probably benign	Het
Slc6a13	A	T	6: 121,302,794 (GRCm38)	E42D	probably benign	Het
Stard9	G	A	2: 120,713,546 (GRCm38)	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,616,237 (GRCm38)		probably benign	Het
Syngap1	A	G	17: 26,958,130 (GRCm38)	I356V	probably benign	Het
Tcam1	C	T	11: 106,284,054 (GRCm38)	Q112*	probably null	Het
Tdp2	T	A	13: 24,840,395 (GRCm38)	L225*	probably null	Het
Tmprss7	A	G	16: 45,658,122 (GRCm38)	V747A	probably benign	Het
Ugt2b34	T	A	5: 86,906,364 (GRCm38)	Y186F	probably benign	Het
Usp37	G	T	1: 74,475,133 (GRCm38)	S293*	probably null	Het
Vmn1r36	A	G	6: 66,716,246 (GRCm38)	I109T	probably benign	Het
Vsig10l	T	A	7: 43,468,972 (GRCm38)	V798E	probably benign	Het
Zfp36l1	G	T	12: 80,112,822 (GRCm38)	C18*	probably null	Het
Zfp959	T	C	17: 55,897,427 (GRCm38)	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,249,599 (GRCm38)	C1949S	probably damaging	Het
Zswim9	T	A	7: 13,261,603 (GRCm38)	E209V	probably damaging	Het

Other mutations in Pth1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Pth1r	APN	9	110,727,130 (GRCm38)	missense	probably damaging	0.99
IGL01682:Pth1r	APN	9	110,723,706 (GRCm38)	splice site	probably null
IGL02004:Pth1r	APN	9	110,742,308 (GRCm38)	intron	probably benign
IGL02169:Pth1r	APN	9	110,724,435 (GRCm38)	missense	probably damaging	1.00
IGL02548:Pth1r	APN	9	110,727,680 (GRCm38)	missense	probably damaging	1.00
IGL03201:Pth1r	APN	9	110,722,580 (GRCm38)	missense	probably damaging	1.00
R0070:Pth1r	UTSW	9	110,727,550 (GRCm38)	splice site	probably null
R0881:Pth1r	UTSW	9	110,731,573 (GRCm38)	missense	probably damaging	1.00
R1022:Pth1r	UTSW	9	110,742,227 (GRCm38)	missense	probably damaging	0.96
R1022:Pth1r	UTSW	9	110,729,621 (GRCm38)	missense	probably benign	0.01
R1024:Pth1r	UTSW	9	110,742,227 (GRCm38)	missense	probably damaging	0.96
R1024:Pth1r	UTSW	9	110,729,621 (GRCm38)	missense	probably benign	0.01
R2071:Pth1r	UTSW	9	110,727,013 (GRCm38)	missense	probably benign	0.34
R2197:Pth1r	UTSW	9	110,726,990 (GRCm38)	unclassified	probably benign
R2206:Pth1r	UTSW	9	110,723,587 (GRCm38)	missense	probably damaging	1.00
R4184:Pth1r	UTSW	9	110,742,232 (GRCm38)	start codon destroyed	probably null
R4590:Pth1r	UTSW	9	110,722,271 (GRCm38)	missense	probably benign	0.04
R4638:Pth1r	UTSW	9	110,727,073 (GRCm38)	missense	possibly damaging	0.60
R4693:Pth1r	UTSW	9	110,731,624 (GRCm38)	missense	probably damaging	1.00
R5457:Pth1r	UTSW	9	110,726,454 (GRCm38)	missense	possibly damaging	0.88
R6682:Pth1r	UTSW	9	110,727,251 (GRCm38)	splice site	probably null
R6683:Pth1r	UTSW	9	110,727,251 (GRCm38)	splice site	probably null
R6914:Pth1r	UTSW	9	110,728,016 (GRCm38)	splice site	probably null
R6942:Pth1r	UTSW	9	110,728,016 (GRCm38)	splice site	probably null
R7164:Pth1r	UTSW	9	110,723,747 (GRCm38)	missense	possibly damaging	0.66
R7638:Pth1r	UTSW	9	110,722,393 (GRCm38)	missense	probably benign
R7883:Pth1r	UTSW	9	110,731,558 (GRCm38)	missense	probably benign	0.02
R8966:Pth1r	UTSW	9	110,725,161 (GRCm38)	missense	possibly damaging	0.79
R9168:Pth1r	UTSW	9	110,727,136 (GRCm38)	missense	probably benign	0.31
R9585:Pth1r	UTSW	9	110,744,779 (GRCm38)	missense	probably benign	0.00
R9773:Pth1r	UTSW	9	110,727,165 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TCCTTGAGCACAACACAGGAAG -3'
(R):5'- CTATGGCCCAATGGTGTCAC -3'

Sequencing Primer
(F):5'- GGAAGCCACACACAGCTC -3'
(R):5'- TGCAGGACTCAGCCTTCC -3'

Posted On

2018-02-28