Incidental Mutation 'R5332:Ptrh1'
ID 423297
Institutional Source Beutler Lab
Gene Symbol Ptrh1
Ensembl Gene ENSMUSG00000053746
Gene Name peptidyl-tRNA hydrolase 1 homolog
Synonyms 2210013M04Rik
MMRRC Submission 042914-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5332 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32665798-32667609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32666758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 109 (V109A)
Ref Sequence ENSEMBL: ENSMUSP00000068850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161958] [ENSMUST00000161089] [ENSMUST00000161950] [ENSMUST00000161430]
AlphaFold Q8BW00
Predicted Effect probably damaging
Transcript: ENSMUST00000066352
AA Change: V109A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068850
Gene: ENSMUSG00000053746
AA Change: V109A

DomainStartEndE-ValueType
Pfam:Pept_tRNA_hydro 22 200 6.3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066478
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091059
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 75 108 2.26e-3 SMART
TPR 109 142 4.09e-1 SMART
TPR 150 183 8.3e-2 SMART
TPR 218 251 4.44e1 SMART
TPR 265 298 3.69e1 SMART
TPR 299 332 1.08e1 SMART
Blast:TPR 345 378 2e-10 BLAST
TPR 379 412 1.02e-1 SMART
TPR 420 453 7.27e0 SMART
Blast:TPR 454 487 2e-12 BLAST
low complexity region 631 644 N/A INTRINSIC
low complexity region 666 679 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102813
SMART Domains Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987

DomainStartEndE-ValueType
coiled coil region 32 191 N/A INTRINSIC
coiled coil region 301 371 N/A INTRINSIC
low complexity region 402 416 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123674
Predicted Effect probably benign
Transcript: ENSMUST00000125891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138214
Predicted Effect probably benign
Transcript: ENSMUST00000161958
Predicted Effect probably benign
Transcript: ENSMUST00000161089
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161950
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161430
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 75 108 2.26e-3 SMART
TPR 109 142 4.09e-1 SMART
TPR 150 183 8.3e-2 SMART
TPR 218 251 4.44e1 SMART
TPR 265 298 3.69e1 SMART
TPR 299 332 1.08e1 SMART
Blast:TPR 345 378 2e-10 BLAST
TPR 379 412 1.02e-1 SMART
TPR 420 453 7.27e0 SMART
Blast:TPR 454 487 2e-12 BLAST
low complexity region 596 611 N/A INTRINSIC
low complexity region 622 634 N/A INTRINSIC
low complexity region 686 697 N/A INTRINSIC
low complexity region 782 807 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 87,251,459 (GRCm39) probably null Het
Ace T A 11: 105,864,705 (GRCm39) probably null Het
Bax T C 7: 45,116,195 (GRCm39) D2G probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Cmya5 T A 13: 93,232,703 (GRCm39) Y795F probably damaging Het
Coro2b T C 9: 62,336,512 (GRCm39) D254G probably damaging Het
Crhbp G T 13: 95,572,963 (GRCm39) P261H probably damaging Het
Cyp4f14 T C 17: 33,125,065 (GRCm39) D452G probably benign Het
Gm8444 T C 15: 81,727,902 (GRCm39) probably benign Het
Gria1 T A 11: 57,218,447 (GRCm39) M900K possibly damaging Het
Kcnj3 A G 2: 55,327,559 (GRCm39) H116R probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map3k2 A G 18: 32,340,509 (GRCm39) D172G probably damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mpdz A C 4: 81,210,817 (GRCm39) H1689Q probably damaging Het
Mybpc3 C T 2: 90,953,283 (GRCm39) A176V probably damaging Het
Or5b124 A T 19: 13,610,729 (GRCm39) T85S possibly damaging Het
Otud7a T A 7: 63,385,574 (GRCm39) I352N probably damaging Het
Pxn A G 5: 115,682,428 (GRCm39) T14A probably damaging Het
Rtn4 T A 11: 29,683,645 (GRCm39) L173Q probably damaging Het
Ryr3 A G 2: 112,733,038 (GRCm39) S603P probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scgb2b19 T C 7: 32,978,006 (GRCm39) N97S probably benign Het
Shank2 T A 7: 143,965,029 (GRCm39) I872N possibly damaging Het
Spink5 A G 18: 44,125,984 (GRCm39) E421G possibly damaging Het
Ush2a A G 1: 188,083,276 (GRCm39) Y273C probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r52 T A 7: 9,903,052 (GRCm39) I459L probably benign Het
Zfp974 A C 7: 27,625,715 (GRCm39) S52A probably benign Het
Other mutations in Ptrh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00328:Ptrh1 APN 2 32,666,353 (GRCm39) splice site probably null
IGL02123:Ptrh1 APN 2 32,666,826 (GRCm39) unclassified probably benign
R2155:Ptrh1 UTSW 2 32,667,040 (GRCm39) missense possibly damaging 0.67
R2484:Ptrh1 UTSW 2 32,667,183 (GRCm39) missense probably benign
R4948:Ptrh1 UTSW 2 32,666,557 (GRCm39) unclassified probably benign
R5449:Ptrh1 UTSW 2 32,666,358 (GRCm39) missense probably damaging 1.00
R6213:Ptrh1 UTSW 2 32,666,757 (GRCm39) missense probably benign 0.08
R9727:Ptrh1 UTSW 2 32,665,854 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AATTGTGACAAGTGCCTGGTGAG -3'
(R):5'- TCCATTATGGCCCCTTGAGG -3'

Sequencing Primer
(F):5'- TGGTGAGCCCCAATTACTACAGTG -3'
(R):5'- AAGAGCAGTTAGTACTTTCTGAGGC -3'
Posted On 2016-08-04