Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Ptar1'

45208

Institutional Source

Beutler Lab

Gene Symbol

Ptar1

Ensembl Gene

ENSMUSG00000074925

Gene Name

protein prenyltransferase alpha subunit repeat containing 1

Synonyms

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23687400-23721129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23720340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 405 (N405K)

Ref Sequence

ENSEMBL: ENSMUSP00000097156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067077] [ENSMUST00000099560]

AlphaFold

A0A494B9V8

Predicted Effect

probably benign
Transcript: ENSMUST00000067077

Predicted Effect

probably benign
Transcript: ENSMUST00000099560
AA Change: N405K

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097156
Gene: ENSMUSG00000074925
AA Change: N405K

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

0.1071

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Ptar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Ptar1	APN	19	23705801	missense	probably damaging	1.00
IGL02608:Ptar1	APN	19	23705712	missense	possibly damaging	0.48
R0134:Ptar1	UTSW	19	23718095	missense	probably benign	0.15
R0225:Ptar1	UTSW	19	23718095	missense	probably benign	0.15
R0395:Ptar1	UTSW	19	23720199	missense	probably damaging	1.00
R1414:Ptar1	UTSW	19	23720291	missense	possibly damaging	0.89
R3114:Ptar1	UTSW	19	23718095	missense	probably benign	0.15
R4016:Ptar1	UTSW	19	23687460	start codon destroyed	probably null	0.99
R4431:Ptar1	UTSW	19	23694331	missense	probably damaging	1.00
R4897:Ptar1	UTSW	19	23703108	missense	probably damaging	1.00
R5054:Ptar1	UTSW	19	23694365	missense	probably damaging	1.00
R5660:Ptar1	UTSW	19	23694412	missense	probably benign	0.32
R5928:Ptar1	UTSW	19	23717913	missense	probably benign	0.00
R6333:Ptar1	UTSW	19	23694322	missense	possibly damaging	0.65
R6610:Ptar1	UTSW	19	23717844	missense	probably benign	0.01
R6834:Ptar1	UTSW	19	23717924	missense	probably benign
R6915:Ptar1	UTSW	19	23703137	missense	probably damaging	1.00
R7381:Ptar1	UTSW	19	23708970	splice site	probably null
R7424:Ptar1	UTSW	19	23718101	missense	probably damaging	1.00
R7563:Ptar1	UTSW	19	23720316	missense	probably benign	0.00
R7884:Ptar1	UTSW	19	23708794	missense	probably benign	0.03
R9072:Ptar1	UTSW	19	23718050	missense	probably benign
R9331:Ptar1	UTSW	19	23694343	missense	probably benign	0.32
R9566:Ptar1	UTSW	19	23708842	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATCACTTAAATGGCAGGCTCCCTC -3'
(R):5'- AGTTAGCCAGTCAGTCCATGCAAC -3'

Sequencing Primer
(F):5'- GAATGACTCGCTCCAGATTCC -3'
(R):5'- GTCCATGCAACTATGGCACTG -3'

Posted On

2013-06-11