Mutagenetix > Incidental Mutation

Incidental Mutation 'R6475:Pthlh'

517373

Institutional Source

Beutler Lab

Gene Symbol

Pthlh

Ensembl Gene

ENSMUSG00000048776

Gene Name

parathyroid hormone-like peptide

Synonyms

parathyroid hormone-related protein, Pthrp, parathyroid hormone-like hormone, PTH-related peptide, parathyroid hormone-related peptide, PTH-like

MMRRC Submission

044608-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147153607-147165511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 147158688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 91 (H91N)

Ref Sequence

ENSEMBL: ENSMUSP00000145509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052296] [ENSMUST00000204197]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000052296
AA Change: H91N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051433
Gene: ENSMUSG00000048776
AA Change: H91N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
PTH	35	70	2.26e-18	SMART
low complexity region	115	144	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204197
AA Change: H91N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145509
Gene: ENSMUSG00000048776
AA Change: H91N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
PTH	35	70	2.26e-18	SMART
low complexity region	115	144	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

96% (54/56)

MGI Phenotype

FUNCTION: This gene encodes a member of the parathyroid family of hormones that possesses distinct paracrine and intracrine signaling roles such as regulation of circulating calcium, transplacental calcium transport, osteoclast inhibition, renal bicarbonate excretion and regulation of apoptosis. The encoded protein undergoes proteolytic processing to generate multiple active peptides with distinct signaling functions. The homozygous deletion of this gene leads to death shortly after birth with a chondrodystrophic phenotype characterized by premature chondrocyte differentiation and accelerated bone formation. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit dischondroplasia associated with premature maturation of chondrocytes and die postnatally from asphyxia. Mutants rescued from neonatal lethality lack mammary development and tooth eruption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb5	T	A	8: 55,003,610 (GRCm39)	V44E	probably damaging	Het
Bmpr2	T	A	1: 59,907,503 (GRCm39)	D865E	probably damaging	Het
Ccr4	A	G	9: 114,322,047 (GRCm39)	V6A	probably benign	Het
Cd209a	A	T	8: 3,797,031 (GRCm39)	D102E	probably damaging	Het
Cdh18	A	G	15: 23,227,022 (GRCm39)	D161G	possibly damaging	Het
Cog4	T	A	8: 111,607,526 (GRCm39)	I671N	possibly damaging	Het
Col14a1	T	G	15: 55,309,218 (GRCm39)		probably benign	Het
Cpne6	A	G	14: 55,751,110 (GRCm39)	D173G	probably damaging	Het
Daglb	G	T	5: 143,467,406 (GRCm39)	V275L	probably benign	Het
Defb43	G	T	14: 63,249,321 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,914,120 (GRCm39)	V1022A	possibly damaging	Het
Egfem1	A	T	3: 29,711,312 (GRCm39)	K297M	probably damaging	Het
Egfr	A	G	11: 16,841,259 (GRCm39)	I717V	probably benign	Het
Eif2ak1	T	G	5: 143,803,765 (GRCm39)		probably null	Het
Epb42	T	C	2: 120,857,614 (GRCm39)	Y307C	possibly damaging	Het
Erlec1	G	A	11: 30,898,442 (GRCm39)	Q10*	probably null	Het
Fam185a	A	G	5: 21,630,281 (GRCm39)	D39G	probably benign	Het
Fbxl4	T	A	4: 22,433,661 (GRCm39)	D599E	probably damaging	Het
Fgfr2	T	A	7: 129,802,850 (GRCm39)	T268S	probably benign	Het
Gabra1	A	T	11: 42,053,382 (GRCm39)	M84K	probably benign	Het
Gba1	A	G	3: 89,113,235 (GRCm39)	D222G	probably benign	Het
Gm3409	T	A	5: 146,474,596 (GRCm39)	H37Q	possibly damaging	Het
Gm4559	A	G	7: 141,827,887 (GRCm39)	C72R	unknown	Het
Grik4	T	C	9: 42,540,304 (GRCm39)	N292S	probably benign	Het
Haao	A	G	17: 84,139,113 (GRCm39)	S274P	possibly damaging	Het
Hsd17b4	T	A	18: 50,305,329 (GRCm39)		probably null	Het
Igdcc4	A	T	9: 65,027,603 (GRCm39)	S222C	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Itgb7	T	A	15: 102,124,701 (GRCm39)	D772V	probably benign	Het
Kif14	T	C	1: 136,455,149 (GRCm39)	L1607P	probably damaging	Het
Klf5	A	G	14: 99,538,817 (GRCm39)	T77A	probably benign	Het
Klhl29	C	T	12: 5,141,030 (GRCm39)	V605I	probably damaging	Het
Map4k1	T	C	7: 28,686,447 (GRCm39)	V105A	probably damaging	Het
Mctp2	A	T	7: 71,850,092 (GRCm39)		probably null	Het
Med12l	A	G	3: 59,164,500 (GRCm39)	E1364G	probably damaging	Het
Mup9	A	T	4: 60,375,805 (GRCm39)	D30E	possibly damaging	Het
Naip1	T	C	13: 100,545,596 (GRCm39)	R1311G	probably damaging	Het
Or2ag2	A	G	7: 106,485,604 (GRCm39)	V140A	probably benign	Het
Or2v1	C	T	11: 49,025,760 (GRCm39)	T247I	probably benign	Het
Or4f14	G	A	2: 111,743,204 (GRCm39)	Q24*	probably null	Het
Or8g28	T	A	9: 39,169,378 (GRCm39)	M197L	probably benign	Het
Pkd1l3	A	C	8: 110,349,844 (GRCm39)	T230P	unknown	Het
Rapgef5	T	A	12: 117,681,942 (GRCm39)	V239D	probably damaging	Het
Rita1	G	A	5: 120,749,635 (GRCm39)	T26I	probably damaging	Het
Robo3	T	C	9: 37,334,586 (GRCm39)	T615A	probably damaging	Het
Rpp38	T	C	2: 3,330,644 (GRCm39)	D86G	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Senp2	G	T	16: 21,842,550 (GRCm39)	V205L	probably damaging	Het
Septin10	T	C	10: 59,028,133 (GRCm39)	N63D	possibly damaging	Het
Sez6	A	G	11: 77,864,670 (GRCm39)			Het
Spesp1	C	T	9: 62,179,715 (GRCm39)	V398I	probably benign	Het
Tmbim7	G	A	5: 3,714,319 (GRCm39)	G19S	probably benign	Het
Tnni3k	A	T	3: 154,646,695 (GRCm39)	L431*	probably null	Het
Trdn	T	A	10: 33,340,551 (GRCm39)		probably null	Het
Tubb2a	A	G	13: 34,259,442 (GRCm39)	V116A	possibly damaging	Het
Ush1c	T	C	7: 45,878,643 (GRCm39)	D124G	probably damaging	Het
Zfp768	A	T	7: 126,943,827 (GRCm39)	F103L	probably damaging	Het
Zfp799	A	G	17: 33,039,820 (GRCm39)	S149P	probably damaging	Het

Other mutations in Pthlh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Pthlh	APN	6	147,154,073 (GRCm39)	missense	probably benign	0.15
IGL02450:Pthlh	APN	6	147,158,666 (GRCm39)	missense	possibly damaging	0.95
R0847:Pthlh	UTSW	6	147,164,766 (GRCm39)	critical splice donor site	probably null
R2171:Pthlh	UTSW	6	147,158,694 (GRCm39)	missense	probably damaging	1.00
R2174:Pthlh	UTSW	6	147,158,510 (GRCm39)	missense	probably benign	0.00
R3123:Pthlh	UTSW	6	147,164,789 (GRCm39)	missense	probably damaging	0.98
R3124:Pthlh	UTSW	6	147,164,789 (GRCm39)	missense	probably damaging	0.98
R3125:Pthlh	UTSW	6	147,164,789 (GRCm39)	missense	probably damaging	0.98
R4660:Pthlh	UTSW	6	147,158,796 (GRCm39)	missense	probably damaging	1.00
R5234:Pthlh	UTSW	6	147,158,592 (GRCm39)	missense	probably damaging	1.00
R5244:Pthlh	UTSW	6	147,158,651 (GRCm39)	missense	probably damaging	1.00
R5809:Pthlh	UTSW	6	147,158,745 (GRCm39)	missense	probably damaging	0.99
R7548:Pthlh	UTSW	6	147,158,653 (GRCm39)	missense	possibly damaging	0.56
R8144:Pthlh	UTSW	6	147,158,663 (GRCm39)	missense	probably damaging	1.00
Z1177:Pthlh	UTSW	6	147,164,840 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGTACCTTAAGCTGGGCTCC -3'
(R):5'- ACGCGCTGTGTCTGAACATC -3'

Sequencing Primer
(F):5'- GTCCTCAAGCAGGCCACTC -3'
(R):5'- GTGTCTGAACATCAGCTACTGCATG -3'

Posted On

2018-05-21