Incidental Mutation 'IGL02147:Qpct'
ID281807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qpct
Ensembl Gene ENSMUSG00000024084
Gene Nameglutaminyl-peptide cyclotransferase (glutaminyl cyclase)
Synonyms5730422A13Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.297) question?
Stock #IGL02147
Quality Score
Status
Chromosome17
Chromosomal Location79051906-79090243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79070716 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000038732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040789]
Predicted Effect probably damaging
Transcript: ENSMUST00000040789
AA Change: V105A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038732
Gene: ENSMUSG00000024084
AA Change: V105A

DomainStartEndE-ValueType
low complexity region 8 26 N/A INTRINSIC
Pfam:Peptidase_M28 123 356 2.1e-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.] This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice exhibit normal motor coordination and spatial working memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,064,963 noncoding transcript Het
Acadsb T A 7: 131,425,881 probably benign Het
Ambra1 A G 2: 91,767,719 H75R probably benign Het
Arhgef28 T A 13: 97,961,314 I931F probably damaging Het
Cdk5 T C 5: 24,420,320 N165D probably benign Het
Col4a2 A T 8: 11,408,140 Y272F probably benign Het
Csde1 T A 3: 103,039,934 D67E probably damaging Het
Dhx34 T C 7: 16,204,003 H724R probably benign Het
Dhx57 T C 17: 80,260,323 D777G possibly damaging Het
Fat3 A C 9: 15,995,985 V2907G probably damaging Het
Fst T C 13: 114,454,360 Y290C probably damaging Het
Gm5065 T A 7: 5,359,733 I121N probably damaging Het
Ighg2b A T 12: 113,306,391 *336R probably null Het
Igkv4-92 C T 6: 68,755,252 S46N probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lmtk2 A G 5: 144,156,936 M244V possibly damaging Het
Mcoln1 T C 8: 3,508,379 F211S probably benign Het
Mib2 C A 4: 155,657,687 R209L probably benign Het
Msx3 C A 7: 140,048,885 V39L possibly damaging Het
Mtnr1b A G 9: 15,863,376 F129S probably damaging Het
Nr3c2 A G 8: 76,909,067 S266G probably damaging Het
Nup160 G T 2: 90,703,941 L703F probably benign Het
Olfr1093 A G 2: 86,786,150 N140S probably benign Het
Olfr95 T A 17: 37,210,986 Y289F probably damaging Het
Pcyt1a T A 16: 32,462,098 N105K probably damaging Het
Pdhx A G 2: 103,030,341 probably benign Het
Ros1 A C 10: 52,120,895 F1227C probably damaging Het
Rrp12 A T 19: 41,886,181 V342E probably damaging Het
Sart3 A G 5: 113,762,943 probably benign Het
Slc6a18 T A 13: 73,668,162 K366M probably damaging Het
Smarca4 A G 9: 21,635,703 N175D probably damaging Het
Sox14 T C 9: 99,875,545 K47R probably damaging Het
Trcg1 A T 9: 57,245,849 I592F probably benign Het
Ush2a T C 1: 188,864,703 M3880T probably benign Het
Usp20 T C 2: 31,006,401 F172S probably damaging Het
Vmn2r4 C T 3: 64,398,361 probably benign Het
Other mutations in Qpct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Qpct APN 17 79070889 missense probably damaging 1.00
IGL01490:Qpct APN 17 79089740 missense probably benign 0.10
IGL03006:Qpct APN 17 79070722 missense probably benign 0.22
IGL03007:Qpct APN 17 79070865 missense probably damaging 1.00
IGL03168:Qpct APN 17 79052324 missense unknown
PIT4354001:Qpct UTSW 17 79081759 missense probably benign 0.00
R0268:Qpct UTSW 17 79077652 missense probably benign 0.04
R1476:Qpct UTSW 17 79070772 missense probably benign 0.02
R1563:Qpct UTSW 17 79064063 missense probably benign
R2157:Qpct UTSW 17 79070686 missense probably benign 0.19
R2846:Qpct UTSW 17 79070742 missense probably damaging 0.98
Posted On2015-04-16