Mutagenetix > Incidental Mutation

Incidental Mutation 'R6610:Ptar1'

525943

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

044733-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R6610 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23664793-23709032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23695208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 225 (H225R)

Ref Sequence

ENSEMBL: ENSMUSP00000097156 (fasta)

Gene Model

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

AlphaFold

A0A494B9V8

Predicted Effect

probably benign
Transcript: ENSMUST00000099560
AA Change: H225R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000097156
Gene: ENSMUSG00000074925
AA Change: H225R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	T	9: 21,437,561 (GRCm39)	M1L	probably benign	Het
Adam26b	T	C	8: 43,974,190 (GRCm39)	K271E	probably damaging	Het
Ankrd44	A	G	1: 54,694,246 (GRCm39)	I914T	probably benign	Het
Atp12a	A	G	14: 56,612,013 (GRCm39)	R396G	probably damaging	Het
C2cd3	A	G	7: 100,104,505 (GRCm39)	K2173E	probably benign	Het
Cbx2	A	G	11: 118,915,036 (GRCm39)	D51G	probably damaging	Het
Ccdc33	T	A	9: 57,976,419 (GRCm39)	T532S	possibly damaging	Het
Ccnt1	T	C	15: 98,462,982 (GRCm39)	I63M	probably damaging	Het
Cdc20b	C	T	13: 113,200,796 (GRCm39)	T172I	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Ces2f	T	G	8: 105,676,738 (GRCm39)		probably null	Het
Cfh	A	T	1: 140,029,486 (GRCm39)	C597*	probably null	Het
Cntnap2	A	T	6: 45,992,191 (GRCm39)	T373S	probably benign	Het
Cyb5r4	T	G	9: 86,941,470 (GRCm39)	C64G	probably benign	Het
Cyp2c23	A	G	19: 43,995,520 (GRCm39)	F416L	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Eif4e1b	A	G	13: 54,932,128 (GRCm39)		probably benign	Het
Elp1	A	G	4: 56,758,236 (GRCm39)	V1227A	probably benign	Het
Etl4	G	A	2: 20,718,180 (GRCm39)	R256K	probably damaging	Het
Fhad1	A	G	4: 141,643,707 (GRCm39)	L1054P	possibly damaging	Het
Grik1	A	G	16: 87,831,200 (GRCm39)	I190T	probably damaging	Het
Gsdmc2	T	C	15: 63,696,857 (GRCm39)	N438S	probably benign	Het
Igkv15-103	A	T	6: 68,414,617 (GRCm39)	R19*	probably null	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Lhcgr	A	T	17: 89,077,307 (GRCm39)	I93K	possibly damaging	Het
Muc6	G	C	7: 141,226,700 (GRCm39)		probably benign	Het
Mymk	G	T	2: 26,957,405 (GRCm39)	S29R	possibly damaging	Het
Nab2	A	T	10: 127,500,207 (GRCm39)	I295N	probably damaging	Het
Neu2	A	T	1: 87,524,407 (GRCm39)	T131S	probably benign	Het
Pdcd7	T	A	9: 65,261,965 (GRCm39)	M129K	possibly damaging	Het
Pygb	T	A	2: 150,665,886 (GRCm39)		probably null	Het
Rpap3	T	C	15: 97,586,049 (GRCm39)	D314G	probably benign	Het
Scara3	A	G	14: 66,168,670 (GRCm39)	S316P	probably damaging	Het
Sec24a	C	T	11: 51,587,483 (GRCm39)	V1051I	probably benign	Het
Setdb1	G	T	3: 95,235,888 (GRCm39)	A841D	probably damaging	Het
Stk32b	G	A	5: 37,606,022 (GRCm39)	T407I	probably benign	Het
Tcte2	G	A	17: 13,948,250 (GRCm39)	Q10*	probably null	Het
Tgm2	C	A	2: 157,985,020 (GRCm39)	E29*	probably null	Het
Trim32	G	A	4: 65,533,308 (GRCm39)	V622M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyk2	G	T	9: 21,019,312 (GRCm39)	Q1014K	probably benign	Het
Vmn1r123	A	G	7: 20,896,515 (GRCm39)	N136D	probably benign	Het
Vmn2r31	A	T	7: 7,387,588 (GRCm39)	V661E	probably damaging	Het
Vmn2r85	A	T	10: 130,261,838 (GRCm39)	F166L	probably damaging	Het
Zfp426	T	C	9: 20,384,389 (GRCm39)	K98R	probably damaging	Het
Zfp534	C	T	4: 147,758,947 (GRCm39)	R574K	probably benign	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
R4431:Ptar1	UTSW	19	23,671,695 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTCGAACCAGGAATGAAGC -3'
(R):5'- ACACTTGGCTCCTCTGTTGAG -3'

Sequencing Primer
(F):5'- AATGAAGCAGGTCAAGTTTTTGG -3'
(R):5'- TCTGTTGAGGCTGCCGC -3'

Posted On

2018-06-22