Mutagenetix > Incidental Mutation

Incidental Mutation 'R6333:Ptar1'

513262

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

044487-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R6333 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23664793-23709032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23671686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 30 (D30N)

Ref Sequence

ENSEMBL: ENSMUSP00000097156 (fasta)

Gene Model

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

AlphaFold

A0A494B9V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099560
AA Change: D30N

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097156
Gene: ENSMUSG00000074925
AA Change: D30N

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

0.1307

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.9%
20x: 93.2%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	T	C	9: 15,203,372 (GRCm39)	K111R	probably benign	Het
Abhd18	A	G	3: 40,888,218 (GRCm39)	Y354C	probably benign	Het
Acap1	T	C	11: 69,774,427 (GRCm39)	I424V	possibly damaging	Het
AI182371	A	T	2: 34,975,281 (GRCm39)	I306K	probably damaging	Het
Asb4	G	A	6: 5,423,597 (GRCm39)	R248H	probably damaging	Het
Brd7	T	C	8: 89,071,819 (GRCm39)	T349A	probably damaging	Het
Bub1b	T	C	2: 118,428,944 (GRCm39)		probably null	Het
Cep85l	G	A	10: 53,225,197 (GRCm39)	Q131*	probably null	Het
Chmp2b	T	A	16: 65,337,136 (GRCm39)	M178L	possibly damaging	Het
Chrnb3	A	G	8: 27,883,355 (GRCm39)	N84D	probably damaging	Het
Clec4b2	A	T	6: 123,177,637 (GRCm39)		probably null	Het
Defa34	T	C	8: 22,155,862 (GRCm39)	V17A	probably benign	Het
Dnah3	A	T	7: 119,653,856 (GRCm39)	L947Q	probably damaging	Het
Dynlt2a1	G	A	17: 15,261,717 (GRCm39)		probably benign	Het
Ell	A	G	8: 71,044,188 (GRCm39)	Y578C	probably damaging	Het
Esp36	T	A	17: 38,728,135 (GRCm39)	M49L	probably benign	Het
Fbxw19	A	T	9: 109,323,751 (GRCm39)	W75R	probably benign	Het
Fcgr4	A	G	1: 170,856,838 (GRCm39)	Y235C	probably damaging	Het
Gm10110	A	C	14: 90,135,733 (GRCm39)		noncoding transcript	Het
Gm13030	A	T	4: 138,598,708 (GRCm39)		probably null	Het
Hdac9	T	C	12: 34,102,323 (GRCm39)	M1058V	probably damaging	Het
Hsd3b6	A	G	3: 98,713,540 (GRCm39)	F253S	probably damaging	Het
Hspg2	T	C	4: 137,289,266 (GRCm39)	Y3794H	probably damaging	Het
Mark4	G	A	7: 19,177,208 (GRCm39)	T207M	probably damaging	Het
Mme	A	G	3: 63,249,382 (GRCm39)	T304A	probably benign	Het
Neb	A	G	2: 52,148,275 (GRCm39)	L2657P	probably damaging	Het
Nufip1	A	C	14: 76,349,425 (GRCm39)	K152N	probably damaging	Het
Pcdh1	A	G	18: 38,331,860 (GRCm39)	V381A	probably benign	Het
Pdss1	A	G	2: 22,791,778 (GRCm39)	T30A	probably damaging	Het
Plrg1	A	G	3: 82,964,102 (GRCm39)	T12A	probably damaging	Het
Ppig	C	T	2: 69,579,902 (GRCm39)	H479Y	unknown	Het
Prokr2	A	G	2: 132,215,898 (GRCm39)	F188L	probably damaging	Het
Prss39	A	G	1: 34,539,150 (GRCm39)	N130S	probably benign	Het
Rai14	G	T	15: 10,575,022 (GRCm39)	Y645*	probably null	Het
Rnasek	T	C	11: 70,129,252 (GRCm39)	Y67C	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,354,192 (GRCm39)	V4023A	probably damaging	Het
Sash3	C	T	X: 47,248,398 (GRCm39)	L307F	probably damaging	Homo
Sctr	T	C	1: 119,984,182 (GRCm39)	F357L	probably damaging	Het
Sec14l5	G	A	16: 4,984,908 (GRCm39)	V85I	probably benign	Het
Shld2	G	A	14: 33,989,565 (GRCm39)	T447M	probably damaging	Het
Sirpd	T	C	3: 15,385,671 (GRCm39)	Y77C	probably damaging	Het
Spag8	T	C	4: 43,653,186 (GRCm39)		probably benign	Het
Tbc1d2	T	C	4: 46,620,736 (GRCm39)	D358G	possibly damaging	Het
Tenm4	A	G	7: 96,423,331 (GRCm39)	T672A	probably damaging	Het
Tent2	G	A	13: 93,322,821 (GRCm39)	Q43*	probably null	Het
Trmt1l	T	A	1: 151,329,685 (GRCm39)	S543T	probably benign	Het
Ube4b	A	G	4: 149,432,494 (GRCm39)	F810S	probably damaging	Het
Vmn2r104	C	T	17: 20,249,848 (GRCm39)	V808I	probably benign	Het
Zfp3	T	A	11: 70,662,266 (GRCm39)	I75N	probably benign	Het
Zwint	A	G	10: 72,490,784 (GRCm39)		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
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'- CTCCTGAGTGAGTAAATCTGGG -3'
(R):5'- GCGCATACTCACCATCTTTG -3'

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

Posted On

2018-04-27