Incidental Mutation 'IGL02008:Ptrh2'
ID183272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptrh2
Ensembl Gene ENSMUSG00000072582
Gene Namepeptidyl-tRNA hydrolase 2
SynonymsBit1, A230072I16Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.498) question?
Stock #IGL02008
Quality Score
Status
Chromosome11
Chromosomal Location86683985-86692457 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86689766 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 70 (I70V)
Ref Sequence ENSEMBL: ENSMUSP00000103657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060766] [ENSMUST00000103186] [ENSMUST00000108021] [ENSMUST00000108022]
Predicted Effect probably benign
Transcript: ENSMUST00000060766
SMART Domains Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126

DomainStartEndE-ValueType
Pfam:Clathrin_propel 19 56 5.3e-10 PFAM
Pfam:Clathrin_propel 152 191 1.5e-11 PFAM
Pfam:Clathrin_propel 202 238 1.2e-11 PFAM
Pfam:Clathrin_propel 257 292 2.2e-8 PFAM
Pfam:Clathrin_propel 300 334 8.6e-10 PFAM
Pfam:Clathrin-link 335 358 1.7e-17 PFAM
Pfam:Clathrin_H_link 360 425 7.1e-35 PFAM
low complexity region 449 462 N/A INTRINSIC
CLH 541 683 1.65e-41 SMART
CLH 690 832 1.24e-45 SMART
CLH 837 976 6.68e-42 SMART
CLH 983 1128 7.21e-47 SMART
CLH 1132 1273 7.91e-44 SMART
CLH 1278 1424 1.59e-48 SMART
CLH 1427 1586 8.36e-43 SMART
low complexity region 1666 1677 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103186
SMART Domains Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126

DomainStartEndE-ValueType
Pfam:Clathrin_propel 19 56 2e-7 PFAM
Pfam:Clathrin_propel 148 187 3.8e-9 PFAM
Pfam:Clathrin_propel 198 234 3.8e-9 PFAM
Pfam:Clathrin-link 331 354 3.5e-17 PFAM
Pfam:Clathrin_H_link 356 421 1.9e-35 PFAM
low complexity region 445 458 N/A INTRINSIC
CLH 537 679 1.65e-41 SMART
CLH 686 828 1.24e-45 SMART
CLH 833 972 6.68e-42 SMART
CLH 979 1124 7.21e-47 SMART
CLH 1128 1269 7.91e-44 SMART
CLH 1274 1420 1.59e-48 SMART
CLH 1423 1582 8.36e-43 SMART
low complexity region 1662 1673 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108021
AA Change: I70V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103656
Gene: ENSMUSG00000072582
AA Change: I70V

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:PTH2 66 181 4.7e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108022
AA Change: I70V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103657
Gene: ENSMUSG00000072582
AA Change: I70V

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:PTH2 67 181 1.9e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display neutropenia, delayed kidney and muscle development, and postnatal death due to a runting syndrome associated with progressive muscle weakness, ataxia, and decreased weight. Cultured mouse embryonic fibroblasts show increased resistance to anoikis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,176,101 T2252A probably benign Het
Abcc2 C T 19: 43,821,750 probably benign Het
Abcf1 T C 17: 35,962,062 E231G probably benign Het
Astn2 T C 4: 66,059,153 Y379C probably damaging Het
Atp8b1 G T 18: 64,538,695 probably benign Het
Atr T A 9: 95,881,420 probably benign Het
Bdp1 A G 13: 100,023,827 S2349P possibly damaging Het
Bmp2 T C 2: 133,560,966 S146P probably damaging Het
Cacna1c T C 6: 118,715,924 S218G probably null Het
Cand2 T C 6: 115,803,638 V1161A probably damaging Het
Clec16a T C 16: 10,580,960 V330A probably damaging Het
Cpsf1 A T 15: 76,603,091 V161D probably damaging Het
Ctsh A G 9: 90,061,547 Y75C probably damaging Het
Cyp26c1 C A 19: 37,688,923 L267M probably damaging Het
Cyp26c1 T A 19: 37,688,924 L267Q probably damaging Het
Cyp2c50 G A 19: 40,091,099 W212* probably null Het
Dnah5 T A 15: 28,343,552 M2366K probably damaging Het
Ermp1 A G 19: 29,612,920 M794T probably damaging Het
F11 G T 8: 45,250,095 S186Y probably damaging Het
Fam184b A T 5: 45,532,823 F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 I347V probably benign Het
Fip1l1 C T 5: 74,545,423 T114I possibly damaging Het
Gbp7 A C 3: 142,546,450 D598A probably benign Het
Gm1110 T A 9: 26,883,230 D500V probably benign Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm3248 T A 14: 5,943,928 M99L probably benign Het
Gm906 G A 13: 50,246,685 P535L probably benign Het
Hspa9 G A 18: 34,947,975 R218* probably null Het
Ikbip G A 10: 91,093,257 probably null Het
Kcnb2 C T 1: 15,710,809 T635M probably benign Het
Krtap29-1 T A 11: 99,978,279 I259F possibly damaging Het
Lnpep T C 17: 17,570,957 T442A probably benign Het
Mgat1 T A 11: 49,260,735 I15N probably damaging Het
Nlrp9c A T 7: 26,385,151 S334R probably benign Het
Notch2 A T 3: 98,147,296 D2425V probably damaging Het
Ntn1 C T 11: 68,213,263 V520M probably damaging Het
Olfr1089 A C 2: 86,733,177 I145R possibly damaging Het
Olfr1167 A T 2: 88,149,578 V147E probably damaging Het
Olfr1179 T A 2: 88,402,077 T286S possibly damaging Het
Olfr149 A G 9: 39,702,253 V172A probably damaging Het
Olfr803 T A 10: 129,692,018 T8S probably benign Het
Olfr972 A T 9: 39,873,485 D70V probably damaging Het
Osr2 A G 15: 35,301,992 H246R probably damaging Het
Papolg T C 11: 23,879,898 R224G probably damaging Het
Pax6 T A 2: 105,692,278 probably null Het
Pcyox1 A G 6: 86,392,268 V192A probably benign Het
Phf1 C T 17: 26,935,286 A159V possibly damaging Het
Ppfia4 G A 1: 134,332,391 R45W probably damaging Het
Psmb9 T A 17: 34,183,679 K109M probably damaging Het
Ptprt T A 2: 161,927,673 Y424F probably benign Het
Rnf213 G A 11: 119,418,309 probably benign Het
Rom1 T A 19: 8,928,004 I271F probably benign Het
Satb2 T A 1: 56,796,793 D731V possibly damaging Het
Serpinb7 G T 1: 107,448,129 G159V possibly damaging Het
Slit1 T C 19: 41,646,140 I393V probably damaging Het
Spata20 T A 11: 94,483,463 D327V probably damaging Het
Tbc1d32 G T 10: 56,151,775 Q744K possibly damaging Het
Thegl A T 5: 77,060,758 I378L probably benign Het
Tmem108 G T 9: 103,489,240 N517K possibly damaging Het
Trp63 T A 16: 25,862,461 N160K probably damaging Het
Ttll5 T C 12: 85,933,611 S119P probably damaging Het
Ubqln3 T A 7: 104,142,316 Q189L probably damaging Het
Vwa5a G A 9: 38,737,776 R638H probably benign Het
Wdr3 A G 3: 100,150,982 S436P probably damaging Het
Zfp975 A T 7: 42,662,791 C133S probably damaging Het
Zfp976 A T 7: 42,614,232 probably benign Het
Zmiz1 A G 14: 25,656,879 M860V probably damaging Het
Zscan4d T C 7: 11,162,369 E358G probably benign Het
Other mutations in Ptrh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4774:Ptrh2 UTSW 11 86690007 missense probably damaging 1.00
R4869:Ptrh2 UTSW 11 86689805 nonsense probably null
R4928:Ptrh2 UTSW 11 86690036 missense probably damaging 1.00
R7192:Ptrh2 UTSW 11 86690009 missense probably damaging 1.00
R7210:Ptrh2 UTSW 11 86689967 missense probably benign
Posted On2014-05-07