Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Ptar1'

33887

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

038470-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R0225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23664793-23709032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23695459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 309 (C309S)

Ref Sequence

ENSEMBL: ENSMUSP00000097156 (fasta)

Gene Model

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

AlphaFold

A0A494B9V8

Predicted Effect

probably benign
Transcript: ENSMUST00000099560
AA Change: C309S

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097156
Gene: ENSMUSG00000074925
AA Change: C309S

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

0.1022

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Col18a1	T	C	10: 76,924,748 (GRCm39)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,331,330 (GRCm39)	N736S	probably damaging	Het
F11	T	C	8: 45,702,114 (GRCm39)	T267A	probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,766,181 (GRCm39)	N11S	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Gm10647	A	G	9: 66,705,777 (GRCm39)		probably benign	Het
Gm10936	G	A	10: 117,084,035 (GRCm39)		noncoding transcript	Het
Gzmd	A	G	14: 56,367,161 (GRCm39)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kat2b	A	G	17: 53,948,238 (GRCm39)	E336G	probably damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif23	C	G	9: 61,832,976 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,770,261 (GRCm39)	I109L	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or4k5	T	G	14: 50,386,092 (GRCm39)	K80Q	probably damaging	Het
Or8d1b	A	G	9: 38,887,574 (GRCm39)	I201V	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Prickle1	A	G	15: 93,408,658 (GRCm39)	L47P	possibly damaging	Het
Rapgef2	A	T	3: 79,011,412 (GRCm39)	S224R	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Skor2	A	T	18: 76,946,793 (GRCm39)	I172F	unknown	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
St14	T	A	9: 31,019,580 (GRCm39)		probably null	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,168,734 (GRCm39)	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,268,256 (GRCm39)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,413,865 (GRCm39)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,439,105 (GRCm39)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,807,556 (GRCm39)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zyg11a	G	A	4: 108,061,838 (GRCm39)	T321I	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
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
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'- TGCTTCCAAGAGAGCATCATGCAG -3'
(R):5'- GAGAGGATGACCAAAAGCCCTTCC -3'

Sequencing Primer
(F):5'- ACAGTGGATTTCACTATCGCCAG -3'
(R):5'- TTCCTCATTCAACCAGAAAAACTATG -3'

Posted On

2013-05-09