Mutagenetix > Incidental Mutation

Incidental Mutation 'R4431:Ptar1'

328636

Institutional Source

Beutler Lab

Gene Symbol

Ptar1

Ensembl Gene

ENSMUSG00000074925

Gene Name

protein prenyltransferase alpha subunit repeat containing 1

Synonyms

4930428J16Rik, 2010013L17Rik, 1700084D09Rik

MMRRC Submission

041146-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R4431 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23664793-23709032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23671695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 33 (G33C)

Ref Sequence

ENSEMBL: ENSMUSP00000097156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099560]

AlphaFold

A0A494B9V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099560
AA Change: G33C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097156
Gene: ENSMUSG00000074925
AA Change: G33C

Domain	Start	End	E-Value	Type
Pfam:PPTA	122	149	3.9e-8	PFAM
Pfam:PPTA	180	207	5e-11	PFAM
Pfam:PPTA	290	315	8e-9	PFAM

Meta Mutation Damage Score

0.5137

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
2510039O18Rik	T	C	4: 148,026,022 (GRCm39)	S181P	probably benign	Het
4930522L14Rik	A	T	5: 109,884,440 (GRCm39)	C473S	possibly damaging	Het
4930523C07Rik	A	T	1: 159,872,149 (GRCm39)		noncoding transcript	Het
Aak1	A	G	6: 86,963,300 (GRCm39)	K910R	unknown	Het
Abca2	A	G	2: 25,332,864 (GRCm39)	D1521G	probably benign	Het
Adamts20	C	A	15: 94,241,924 (GRCm39)	D695Y	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bltp3a	A	G	17: 28,104,905 (GRCm39)	N533S	probably damaging	Het
Bspry	T	A	4: 62,400,904 (GRCm39)	I132N	possibly damaging	Het
Cfap300	A	G	9: 8,027,178 (GRCm39)	V120A	probably damaging	Het
Cfh	T	C	1: 140,064,004 (GRCm39)	Y424C	probably damaging	Het
Chd2	T	C	7: 73,085,709 (GRCm39)	R1642G	possibly damaging	Het
Chrm2	A	G	6: 36,501,097 (GRCm39)	D318G	probably benign	Het
Chrna4	A	G	2: 180,670,413 (GRCm39)	S448P	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Dock8	T	C	19: 25,042,754 (GRCm39)	V112A	probably benign	Het
Fbxo42	C	A	4: 140,927,861 (GRCm39)	R714S	probably damaging	Het
Fmo1	G	A	1: 162,661,281 (GRCm39)	A334V	possibly damaging	Het
Gpr68	A	T	12: 100,865,650 (GRCm39)		probably benign	Het
Gramd4	A	G	15: 86,014,361 (GRCm39)	K345R	probably damaging	Het
Gtpbp1	T	G	15: 79,600,398 (GRCm39)	S444A	probably damaging	Het
Ints12	T	C	3: 132,808,242 (GRCm39)	Y207H	probably damaging	Het
Kat2b-ps	A	T	5: 93,540,443 (GRCm39)		noncoding transcript	Het
Klhl25	T	A	7: 75,515,162 (GRCm39)	F23I	probably damaging	Het
Lamc1	A	G	1: 153,097,274 (GRCm39)	I1590T	probably damaging	Het
Lhfpl4	A	G	6: 113,170,805 (GRCm39)	I127T	possibly damaging	Het
Lrrc71	A	G	3: 87,650,143 (GRCm39)	S286P	possibly damaging	Het
Man1c1	A	T	4: 134,430,329 (GRCm39)	V151D	probably damaging	Het
Mipol1	G	A	12: 57,350,310 (GRCm39)	R36Q	possibly damaging	Het
Nuggc	T	A	14: 65,848,659 (GRCm39)	W187R	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Pkhd1	G	A	1: 20,593,538 (GRCm39)	T1525I	probably damaging	Het
Pomp	A	G	5: 147,812,289 (GRCm39)	E125G	probably damaging	Het
Ptpn3	A	G	4: 57,235,355 (GRCm39)	S335P	probably damaging	Het
Pus7	A	G	5: 23,951,487 (GRCm39)	Y521H	probably benign	Het
Shank1	C	T	7: 43,969,076 (GRCm39)	R324*	probably null	Het
Slc12a3	A	T	8: 95,069,713 (GRCm39)	I541F	probably damaging	Het
Slc12a9	G	A	5: 137,319,775 (GRCm39)	P580L	probably benign	Het
Spz1	A	G	13: 92,711,837 (GRCm39)	L213P	probably damaging	Het
Strn	A	G	17: 79,043,891 (GRCm39)	V9A	probably damaging	Het
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trf	T	C	9: 103,089,075 (GRCm39)	N243S	possibly damaging	Het
Ttc3	T	C	16: 94,211,817 (GRCm39)		probably null	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vps13b	A	C	15: 35,770,899 (GRCm39)	Q2114P	probably damaging	Het
Wdfy1	T	A	1: 79,691,583 (GRCm39)	R275*	probably null	Het
Wnt2b	A	G	3: 104,860,256 (GRCm39)	L217S	probably damaging	Het

Other mutations in Ptar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Ptar1	APN	19	23,683,165 (GRCm39)	missense	probably damaging	1.00
IGL02608:Ptar1	APN	19	23,683,076 (GRCm39)	missense	possibly damaging	0.48
R0134:Ptar1	UTSW	19	23,695,459 (GRCm39)	missense	probably benign	0.15
R0225:Ptar1	UTSW	19	23,695,459 (GRCm39)	missense	probably benign	0.15
R0395:Ptar1	UTSW	19	23,697,563 (GRCm39)	missense	probably damaging	1.00
R0551:Ptar1	UTSW	19	23,697,704 (GRCm39)	missense	probably benign	0.32
R1414:Ptar1	UTSW	19	23,697,655 (GRCm39)	missense	possibly damaging	0.89
R3114:Ptar1	UTSW	19	23,695,459 (GRCm39)	missense	probably benign	0.15
R4016:Ptar1	UTSW	19	23,664,824 (GRCm39)	start codon destroyed	probably null	0.99
R4897:Ptar1	UTSW	19	23,680,472 (GRCm39)	missense	probably damaging	1.00
R5054:Ptar1	UTSW	19	23,671,729 (GRCm39)	missense	probably damaging	1.00
R5660:Ptar1	UTSW	19	23,671,776 (GRCm39)	missense	probably benign	0.32
R5928:Ptar1	UTSW	19	23,695,277 (GRCm39)	missense	probably benign	0.00
R6333:Ptar1	UTSW	19	23,671,686 (GRCm39)	missense	possibly damaging	0.65
R6610:Ptar1	UTSW	19	23,695,208 (GRCm39)	missense	probably benign	0.01
R6834:Ptar1	UTSW	19	23,695,288 (GRCm39)	missense	probably benign
R6915:Ptar1	UTSW	19	23,680,501 (GRCm39)	missense	probably damaging	1.00
R7381:Ptar1	UTSW	19	23,686,334 (GRCm39)	splice site	probably null
R7424:Ptar1	UTSW	19	23,695,465 (GRCm39)	missense	probably damaging	1.00
R7563:Ptar1	UTSW	19	23,697,680 (GRCm39)	missense	probably benign	0.00
R7884:Ptar1	UTSW	19	23,686,158 (GRCm39)	missense	probably benign	0.03
R9072:Ptar1	UTSW	19	23,695,414 (GRCm39)	missense	probably benign
R9331:Ptar1	UTSW	19	23,671,707 (GRCm39)	missense	probably benign	0.32
R9566:Ptar1	UTSW	19	23,686,206 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCCTGAGTGAGTAAATCTGGGG -3'
(R):5'- GCGCATACTCACCATCTTTG -3'

Sequencing Primer
(F):5'- AGACAGGGTCTCACTGTGTAATCC -3'
(R):5'- GCGCATACTCACCATCTTTGTTTAG -3'

Posted On

2015-07-21