Incidental Mutation 'R8140:Cpa6'
ID632456
Institutional Source Beutler Lab
Gene Symbol Cpa6
Ensembl Gene ENSMUSG00000042501
Gene Namecarboxypeptidase A6
Synonyms9030616D13Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #R8140 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location10324720-10719945 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10325294 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 383 (S383P)
Ref Sequence ENSEMBL: ENSMUSP00000035435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035577] [ENSMUST00000153695]
Predicted Effect probably damaging
Transcript: ENSMUST00000035577
AA Change: S383P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035435
Gene: ENSMUSG00000042501
AA Change: S383P

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
Meta Mutation Damage Score 0.9140 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 93.9%
Validation Efficiency 97% (64/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 63,898,611 V230E possibly damaging Het
Amotl1 G A 9: 14,572,715 probably null Het
Atp7b C A 8: 22,028,560 E87D probably damaging Het
Bcat2 C T 7: 45,588,351 P347L probably damaging Het
Brox A T 1: 183,293,873 probably null Het
Cd37 A G 7: 45,238,535 I58T probably damaging Het
Cep295 A T 9: 15,341,533 M333K probably benign Het
Chtop A G 3: 90,505,393 probably null Het
Cpa2 A T 6: 30,544,905 K54N probably benign Het
Dnah7a A T 1: 53,501,589 I2542N probably benign Het
Eif5b G A 1: 38,051,276 V1179I probably benign Het
Erbin T C 13: 103,920,294 probably null Het
Fastkd5 A T 2: 130,615,250 D473E possibly damaging Het
Fchsd1 T C 18: 37,964,342 E372G probably damaging Het
Fgl1 T C 8: 41,200,609 probably null Het
Fzd8 T G 18: 9,213,797 V293G probably damaging Het
Gm4787 T A 12: 81,378,151 H411L probably benign Het
Gm49380 G T 9: 44,111,972 D326E probably benign Het
Hcrtr1 G A 4: 130,135,290 R240C probably damaging Het
Hdac5 A T 11: 102,197,355 Y948N probably damaging Het
Hepacam A G 9: 37,383,871 S301G probably benign Het
Htra4 A T 8: 25,030,558 D362E possibly damaging Het
Ighv1-9 G A 12: 114,583,741 P60L probably damaging Het
Kcnq3 A G 15: 65,995,541 I751T probably damaging Het
Magi3 T C 3: 104,034,086 Y851C probably damaging Het
Mefv A G 16: 3,713,635 S470P probably benign Het
Mfsd2a C T 4: 122,949,298 V397I probably benign Het
Mroh1 C A 15: 76,433,873 H867N probably benign Het
Mthfd1l C T 10: 4,007,745 R261* probably null Het
Myo3a A G 2: 22,407,346 I725M probably damaging Het
Neb T C 2: 52,209,540 D4766G possibly damaging Het
Nek11 G T 9: 105,392,957 P22Q probably damaging Het
Olfr1179 T C 2: 88,402,113 T274A possibly damaging Het
Olfr1497 A T 19: 13,795,239 V124E possibly damaging Het
Olfr178 T C 16: 58,889,585 T212A probably benign Het
Peg10 C G 6: 4,756,113 Q230E unknown Het
Pipox T C 11: 77,883,909 D116G probably benign Het
Pkd1l2 C T 8: 117,047,497 R993H probably benign Het
Pkdrej A C 15: 85,818,410 N1108K probably damaging Het
Polr2a C T 11: 69,746,376 R291Q probably benign Het
Pomt1 T A 2: 32,244,297 Y277N probably damaging Het
Rasal2 A G 1: 157,299,235 S78P probably damaging Het
Rgl1 A T 1: 152,557,501 L171Q probably damaging Het
Sfta2 A G 17: 35,601,774 E14G unknown Het
Sh3rf3 T A 10: 59,049,355 S353R possibly damaging Het
Slc37a1 A T 17: 31,322,259 I242F probably damaging Het
Srfbp1 T A 18: 52,488,690 D274E probably damaging Het
Syne2 T A 12: 75,912,353 S685R possibly damaging Het
Tenm4 A C 7: 96,895,176 D2170A probably damaging Het
Tnr A G 1: 159,863,695 T472A probably damaging Het
Tspan9 T C 6: 127,965,278 H203R probably damaging Het
Ttn T C 2: 76,771,651 T18556A possibly damaging Het
Usp25 T A 16: 77,071,681 Y323* probably null Het
Usp31 G T 7: 121,649,026 R1065S possibly damaging Het
Vmn2r103 A T 17: 19,811,796 T611S probably damaging Het
Wdfy4 A G 14: 33,142,360 V552A Het
Zap70 G T 1: 36,771,181 R124L possibly damaging Het
Zfand6 A T 7: 84,632,749 S91T possibly damaging Het
Other mutations in Cpa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Cpa6 APN 1 10483994 missense probably damaging 1.00
IGL00933:Cpa6 APN 1 10337370 missense probably benign 0.03
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
R8559:Cpa6 UTSW 1 10408349 nonsense probably null
Z1177:Cpa6 UTSW 1 10329559 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGCCAAGGTGCCTTTTGATC -3'
(R):5'- CCAGATGCTGAAGAACACTGTTAG -3'

Sequencing Primer
(F):5'- GACTAGATGACTGTTCCTCTCAAGG -3'
(R):5'- TGCTGAAGAACACTGTTAGAATATTC -3'
Posted On2020-06-30