Incidental Mutation 'R7563:Ptar1'
ID585286
Institutional Source Beutler Lab
Gene Symbol Ptar1
Ensembl Gene ENSMUSG00000074925
Gene Nameprotein prenyltransferase alpha subunit repeat containing 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #R7563 (G1)
Quality Score225.009
Status Not validated
Chromosome19
Chromosomal Location23687400-23721129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23720316 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 397 (D397E)
Ref Sequence ENSEMBL: ENSMUSP00000097156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067077] [ENSMUST00000099560]
Predicted Effect probably benign
Transcript: ENSMUST00000067077
Predicted Effect probably benign
Transcript: ENSMUST00000099560
AA Change: D397E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097156
Gene: ENSMUSG00000074925
AA Change: D397E

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A T 17: 23,717,328 F8L probably benign Het
Aadacl3 A G 4: 144,457,894 I98T probably damaging Het
Ahnak T C 19: 9,011,165 I3271T probably damaging Het
Aox1 G A 1: 58,047,145 V70I probably benign Het
Ap1g2 A G 14: 55,099,749 S710P probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 probably null Het
Cacna1e T C 1: 154,471,416 K1064E probably benign Het
Capn11 T A 17: 45,633,965 I459F probably damaging Het
Ccnc A G 4: 21,732,220 I48V probably damaging Het
Ces1d T A 8: 93,178,039 I358F probably benign Het
Clgn A T 8: 83,420,556 N379I probably damaging Het
Cym T C 3: 107,214,232 Y248C probably damaging Het
Epha8 T C 4: 136,938,789 D352G possibly damaging Het
Eya2 T C 2: 165,716,130 probably null Het
Fbxl5 C T 5: 43,821,549 V20I probably benign Het
Fscb T C 12: 64,473,285 E469G possibly damaging Het
Glt8d2 A T 10: 82,660,825 probably null Het
Gm13088 A T 4: 143,654,105 Y449* probably null Het
Helt T C 8: 46,293,593 probably benign Het
Igkv8-27 G T 6: 70,171,903 T89K probably benign Het
Ipo5 T A 14: 120,946,155 H1048Q probably benign Het
Kalrn T C 16: 34,392,094 D28G probably damaging Het
Kcnh4 G A 11: 100,741,854 P936S probably benign Het
Klrd1 A G 6: 129,593,738 I37M possibly damaging Het
Kmt2e T C 5: 23,500,273 V1267A probably damaging Het
Lrrc29 A G 8: 105,315,756 C147R probably benign Het
March1 A T 8: 66,468,313 Q214L probably damaging Het
Mlip G T 9: 77,112,997 H52N probably damaging Het
Oas1e T C 5: 120,788,956 R229G probably benign Het
Ogfr T A 2: 180,592,507 probably null Het
Olfr1023 T A 2: 85,887,138 Y113N probably damaging Het
Olfr1279 T C 2: 111,306,789 F195L probably benign Het
Pde4d T C 13: 109,951,007 I636T probably benign Het
Pex5l C T 3: 32,954,476 V426I probably damaging Het
Pmfbp1 A G 8: 109,525,374 K384E possibly damaging Het
Prl6a1 T G 13: 27,314,238 probably null Het
Prss23 A T 7: 89,509,830 W344R probably damaging Het
Qrsl1 G A 10: 43,876,517 R437C probably damaging Het
Rab6a G T 7: 100,608,197 probably benign Het
Samd14 C A 11: 95,021,413 S205R probably benign Het
Sel1l3 T C 5: 53,185,984 Y322C probably damaging Het
Slc30a5 A T 13: 100,803,972 L669I probably benign Het
Ssc4d A G 5: 135,963,033 L419P probably damaging Het
Tbc1d2b A T 9: 90,219,010 Y642* probably null Het
Tbc1d2b A C 9: 90,226,248 F417V probably benign Het
Top2a T C 11: 99,016,179 D212G probably damaging Het
Trim39 A T 17: 36,260,915 V317E probably damaging Het
Uncx G A 5: 139,544,506 R113H probably damaging Het
Usp4 A G 9: 108,379,344 S655G probably benign Het
Vmn2r114 C T 17: 23,291,026 V827I probably benign Het
Vmn2r28 T A 7: 5,488,201 N349I probably benign Het
Vmn2r3 A G 3: 64,275,349 W310R possibly damaging Het
Xirp2 T C 2: 67,509,901 W829R probably damaging Het
Zfp574 C A 7: 25,081,352 H600N possibly damaging Het
Other mutations in Ptar1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0551:Ptar1 UTSW 19 23720340 missense probably benign 0.32
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
R7884:Ptar1 UTSW 19 23708794 missense probably benign 0.03
R7967:Ptar1 UTSW 19 23708794 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTAAATGGCAGGCTCCCTC -3'
(R):5'- TTAGCCAGTCAGTCCATGCAAC -3'

Sequencing Primer
(F):5'- ACCTGTCACCTGCAGACTG -3'
(R):5'- GTCCATGCAACTATGGCACTGAG -3'
Posted On2019-10-17