Incidental Mutation 'IGL02147:Qpct'
ID 281807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qpct
Ensembl Gene ENSMUSG00000024084
Gene Name glutaminyl-peptide cyclotransferase (glutaminyl cyclase)
Synonyms 5730422A13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL02147
Quality Score
Status
Chromosome 17
Chromosomal Location 79359335-79397807 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79378145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000038732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040789]
AlphaFold no structure available at present
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: 24,042,327 (GRCm39) noncoding transcript Het
Acadsb T A 7: 131,027,610 (GRCm39) probably benign Het
Ambra1 A G 2: 91,598,064 (GRCm39) H75R probably benign Het
Arhgef28 T A 13: 98,097,822 (GRCm39) I931F probably damaging Het
Cdk5 T C 5: 24,625,318 (GRCm39) N165D probably benign Het
Col4a2 A T 8: 11,458,140 (GRCm39) Y272F probably benign Het
Csde1 T A 3: 102,947,250 (GRCm39) D67E probably damaging Het
Dhx34 T C 7: 15,937,928 (GRCm39) H724R probably benign Het
Dhx57 T C 17: 80,567,752 (GRCm39) D777G possibly damaging Het
Fat3 A C 9: 15,907,281 (GRCm39) V2907G probably damaging Het
Fst T C 13: 114,590,896 (GRCm39) Y290C probably damaging Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Igkv4-92 C T 6: 68,732,236 (GRCm39) S46N probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lgalsl2 T A 7: 5,362,732 (GRCm39) I121N probably damaging Het
Lmtk2 A G 5: 144,093,754 (GRCm39) M244V possibly damaging Het
Mcoln1 T C 8: 3,558,379 (GRCm39) F211S probably benign Het
Mib2 C A 4: 155,742,144 (GRCm39) R209L probably benign Het
Msx3 C A 7: 139,628,798 (GRCm39) V39L possibly damaging Het
Mtnr1b A G 9: 15,774,672 (GRCm39) F129S probably damaging Het
Nr3c2 A G 8: 77,635,696 (GRCm39) S266G probably damaging Het
Nup160 G T 2: 90,534,285 (GRCm39) L703F probably benign Het
Or10c1 T A 17: 37,521,877 (GRCm39) Y289F probably damaging Het
Or5t5 A G 2: 86,616,494 (GRCm39) N140S probably benign Het
Pcyt1a T A 16: 32,280,916 (GRCm39) N105K probably damaging Het
Pdhx A G 2: 102,860,686 (GRCm39) probably benign Het
Ros1 A C 10: 51,996,991 (GRCm39) F1227C probably damaging Het
Rrp12 A T 19: 41,874,620 (GRCm39) V342E probably damaging Het
Sart3 A G 5: 113,901,004 (GRCm39) probably benign Het
Slc6a18 T A 13: 73,816,281 (GRCm39) K366M probably damaging Het
Smarca4 A G 9: 21,546,999 (GRCm39) N175D probably damaging Het
Sox14 T C 9: 99,757,598 (GRCm39) K47R probably damaging Het
Trcg1 A T 9: 57,153,132 (GRCm39) I592F probably benign Het
Ush2a T C 1: 188,596,900 (GRCm39) M3880T probably benign Het
Usp20 T C 2: 30,896,413 (GRCm39) F172S probably damaging Het
Vmn2r4 C T 3: 64,305,782 (GRCm39) probably benign Het
Other mutations in Qpct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Qpct APN 17 79,378,318 (GRCm39) missense probably damaging 1.00
IGL01490:Qpct APN 17 79,397,169 (GRCm39) missense probably benign 0.10
IGL03006:Qpct APN 17 79,378,151 (GRCm39) missense probably benign 0.22
IGL03007:Qpct APN 17 79,378,294 (GRCm39) missense probably damaging 1.00
IGL03168:Qpct APN 17 79,359,753 (GRCm39) missense unknown
PIT4354001:Qpct UTSW 17 79,389,188 (GRCm39) missense probably benign 0.00
R0268:Qpct UTSW 17 79,385,081 (GRCm39) missense probably benign 0.04
R1476:Qpct UTSW 17 79,378,201 (GRCm39) missense probably benign 0.02
R1563:Qpct UTSW 17 79,371,492 (GRCm39) missense probably benign
R2157:Qpct UTSW 17 79,378,115 (GRCm39) missense probably benign 0.19
R2846:Qpct UTSW 17 79,378,171 (GRCm39) missense probably damaging 0.98
R8499:Qpct UTSW 17 79,384,996 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16