Incidental Mutation 'IGL00933:Cpa6'
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ID26657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpa6
Ensembl Gene ENSMUSG00000042501
Gene Namecarboxypeptidase A6
Synonyms9030616D13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL00933
Quality Score
Status
Chromosome1
Chromosomal Location10324720-10719945 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10337370 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 314 (H314R)
Ref Sequence ENSEMBL: ENSMUSP00000035435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035577] [ENSMUST00000153695]
Predicted Effect probably benign
Transcript: ENSMUST00000035577
AA Change: H314R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035435
Gene: ENSMUSG00000042501
AA Change: H314R

DomainStartEndE-ValueType
Pfam:Propep_M14 43 119 3.1e-17 PFAM
Zn_pept 139 421 2.19e-123 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153695
SMART Domains Protein: ENSMUSP00000118341
Gene: ENSMUSG00000042501

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
SCOP:d1kwma2 31 64 2e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that belongs to the metallocarboxypeptidase family of proteins that catalyze the release of a C-terminal amino acid from the target protein. The encoded preproprotein undergoes proteolytic cleavage to yield the mature form which is thought to play a role in cell migration. In humans, this protein regulates neuropeptides in the brain and mutations in this gene are associated with a recessive familial form of febrile seizures and with temporal lobe epilepsy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc3 T A 13: 80,891,055 probably benign Het
Brca2 A G 5: 150,542,404 S1878G probably benign Het
Ehbp1l1 A G 19: 5,717,933 I1114T probably benign Het
Eml3 G A 19: 8,936,398 W73* probably null Het
Fmo4 G T 1: 162,794,023 Q540K probably benign Het
Fstl4 G A 11: 53,186,761 G782R possibly damaging Het
Itga11 T C 9: 62,769,305 I925T possibly damaging Het
Itsn2 T G 12: 4,707,540 F1411C probably damaging Het
Lmna A T 3: 88,482,549 C590S possibly damaging Het
Magi3 A G 3: 104,015,847 Y1185H probably benign Het
Marf1 A G 16: 14,117,357 Y1516H probably damaging Het
Mast4 T C 13: 102,735,366 D2306G probably damaging Het
Ncoa6 A G 2: 155,415,397 V742A probably damaging Het
Nol4l A G 2: 153,477,936 F175S probably damaging Het
Olfr826 A T 10: 130,180,214 M222K probably benign Het
Orm2 T C 4: 63,364,152 probably benign Het
Pik3cb T A 9: 99,101,286 T90S probably damaging Het
Plekhg2 G A 7: 28,360,689 P1072S probably benign Het
Rgr A T 14: 37,038,918 Y227* probably null Het
Snd1 T C 6: 28,512,986 probably null Het
Zfp560 A G 9: 20,348,808 S253P probably benign Het
Other mutations in Cpa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Cpa6 APN 1 10483994 missense probably damaging 1.00
IGL01710:Cpa6 APN 1 10325272 missense probably damaging 0.99
IGL02211:Cpa6 APN 1 10595636 missense possibly damaging 0.83
IGL02504:Cpa6 APN 1 10488919 missense probably benign 0.19
R0487:Cpa6 UTSW 1 10409262 missense possibly damaging 0.77
R1260:Cpa6 UTSW 1 10325319 splice site probably null
R2154:Cpa6 UTSW 1 10337322 missense probably damaging 1.00
R4705:Cpa6 UTSW 1 10481058 missense probably benign 0.03
R4788:Cpa6 UTSW 1 10408277 missense possibly damaging 0.95
R4872:Cpa6 UTSW 1 10595618 critical splice donor site probably null
R4941:Cpa6 UTSW 1 10409337 missense probably benign 0.25
R5656:Cpa6 UTSW 1 10329514 missense probably benign 0.19
R5969:Cpa6 UTSW 1 10488883 missense probably benign 0.15
R6019:Cpa6 UTSW 1 10595643 missense possibly damaging 0.88
R6322:Cpa6 UTSW 1 10477121 missense possibly damaging 0.77
R6958:Cpa6 UTSW 1 10595688 missense probably damaging 1.00
R7154:Cpa6 UTSW 1 10337469 missense possibly damaging 0.71
R7274:Cpa6 UTSW 1 10409299 missense probably damaging 1.00
R8140:Cpa6 UTSW 1 10325294 missense probably damaging 1.00
Z1177:Cpa6 UTSW 1 10329559 critical splice acceptor site probably null
Posted On2013-04-17