Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Pthlh'

237692

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

040176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147153607-147165511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 147158510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 150 (T150I)

Ref Sequence

ENSEMBL: ENSMUSP00000145509 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052296
AA Change: T150I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000051433
Gene: ENSMUSG00000048776
AA Change: T150I

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 benign
Transcript: ENSMUST00000204197
AA Change: T150I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145509
Gene: ENSMUSG00000048776
AA Change: T150I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 37,894,252 (GRCm39)	I95T	possibly damaging	Het
Adarb1	A	G	10: 77,131,632 (GRCm39)	I619T	probably benign	Het
Aldh2	T	C	5: 121,710,731 (GRCm39)		probably benign	Het
Antxrl	T	A	14: 33,782,357 (GRCm39)	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,386,760 (GRCm39)	I289N	probably benign	Het
Asxl3	T	G	18: 22,586,701 (GRCm39)	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,963,578 (GRCm39)	T108I	probably benign	Het
Capn2	A	T	1: 182,307,290 (GRCm39)	I516N	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,267,318 (GRCm39)	K73R	probably benign	Het
Cfap20dc	T	C	14: 8,558,109 (GRCm38)	I159V	probably benign	Het
Clasp1	A	G	1: 118,487,825 (GRCm39)	H823R	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Ddx60	A	G	8: 62,409,175 (GRCm39)	I404V	probably damaging	Het
Ddx60	G	T	8: 62,470,234 (GRCm39)	M1407I	probably benign	Het
Dennd3	A	T	15: 73,427,154 (GRCm39)	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,498,787 (GRCm39)	K157*	probably null	Het
Dnai7	T	C	6: 145,120,896 (GRCm39)	H641R	probably damaging	Het
Dnajc1	T	C	2: 18,312,762 (GRCm39)	D196G	probably damaging	Het
Fanca	A	G	8: 123,998,009 (GRCm39)	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,787,046 (GRCm39)	V297A	possibly damaging	Het
Fnta	A	T	8: 26,503,498 (GRCm39)	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,449,680 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,484,353 (GRCm39)	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,422,216 (GRCm39)	K496R	probably benign	Het
Gm5283	A	G	3: 17,285,005 (GRCm39)		noncoding transcript	Het
Gm6741	A	G	17: 91,544,332 (GRCm39)	I32V	probably benign	Het
Gnptab	T	A	10: 88,269,906 (GRCm39)	F870I	probably damaging	Het
Gpx8	G	A	13: 113,182,140 (GRCm39)	P98S	probably benign	Het
Grm2	T	C	9: 106,524,994 (GRCm39)	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,457,787 (GRCm39)	D468G	probably benign	Het
Hectd3	A	T	4: 116,856,898 (GRCm39)	M482L	probably benign	Het
Ier5	G	T	1: 154,974,599 (GRCm39)	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,435,211 (GRCm39)	N827S	probably damaging	Het
Kif13a	A	G	13: 46,922,652 (GRCm39)	L387P	probably damaging	Het
Map3k1	G	C	13: 111,889,016 (GRCm39)	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,211,412 (GRCm39)	C11Y	possibly damaging	Het
Msr1	A	G	8: 40,084,381 (GRCm39)	L58P	probably damaging	Het
Mtmr10	T	A	7: 63,986,512 (GRCm39)	F530Y	possibly damaging	Het
Myo7b	A	G	18: 32,116,610 (GRCm39)	L999P	probably damaging	Het
Myoz3	T	C	18: 60,723,296 (GRCm39)	E8G	probably benign	Het
Naip6	C	A	13: 100,435,495 (GRCm39)	M1009I	probably benign	Het
Nav2	T	A	7: 49,102,411 (GRCm39)	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228 (GRCm39)	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,148,849 (GRCm39)	L152P	probably damaging	Het
Or9s23	A	G	1: 92,501,379 (GRCm39)	N162S	probably benign	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,552,786 (GRCm39)	Q2074L	probably benign	Het
Ptprq	A	T	10: 107,541,414 (GRCm39)	Y371N	probably damaging	Het
Rfwd3	A	G	8: 112,009,975 (GRCm39)	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sap130	T	C	18: 31,810,532 (GRCm39)		probably null	Het
Sap25	T	G	5: 137,640,891 (GRCm39)	M229R	possibly damaging	Het
Scaper	A	T	9: 55,766,321 (GRCm39)	V479E	probably null	Het
Scn3a	T	A	2: 65,337,550 (GRCm39)	D649V	probably damaging	Het
Slco1a7	A	T	6: 141,673,319 (GRCm39)	Y406*	probably null	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Sowahb	T	C	5: 93,192,284 (GRCm39)	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,711,590 (GRCm39)	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,674,177 (GRCm39)	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,801,135 (GRCm39)	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,815,137 (GRCm39)	M605V	possibly damaging	Het
Tekt3	A	T	11: 62,985,514 (GRCm39)	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730 (GRCm39)	W477*	probably null	Het
Tra2a	T	C	6: 49,227,861 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,380 (GRCm39)	F51L	possibly damaging	Het
Trrap	C	A	5: 144,758,665 (GRCm39)	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,447,076 (GRCm39)		probably null	Het
Unc5d	A	T	8: 29,184,568 (GRCm39)	V644E	probably damaging	Het
Xpo4	A	G	14: 57,827,547 (GRCm39)	L883P	probably damaging	Het
Zbbx	T	G	3: 74,959,721 (GRCm39)	D616A	possibly damaging	Het
Zfp943	T	A	17: 22,211,804 (GRCm39)	C297S	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
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
R6475:Pthlh	UTSW	6	147,158,688 (GRCm39)	missense	probably damaging	0.98
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'- GACTGGTGTGGCCTATACTG -3'
(R):5'- AATCAGAGCTACCTCGGAGG -3'

Sequencing Primer
(F):5'- GTGGCCTATACTGGTTTTAAATCAC -3'
(R):5'- AGGTGTCCCCCAACTCC -3'

Posted On

2014-10-02