Incidental Mutation 'IGL01326:Cndp1'
ID 74265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cndp1
Ensembl Gene ENSMUSG00000056162
Gene Name carnosine dipeptidase 1
Synonyms Cn1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL01326
Quality Score
Status
Chromosome 18
Chromosomal Location 84628634-84668220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84640357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 283 (T283S)
Ref Sequence ENSEMBL: ENSMUSP00000069699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070139]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070139
AA Change: T283S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000069699
Gene: ENSMUSG00000056162
AA Change: T283S

DomainStartEndE-ValueType
Pfam:Peptidase_M20 103 477 4.3e-33 PFAM
Pfam:M20_dimer 216 377 3.4e-17 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 a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Cndp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Cndp1 APN 18 84,629,790 (GRCm39) missense probably benign 0.05
IGL01762:Cndp1 APN 18 84,640,411 (GRCm39) missense probably damaging 1.00
IGL02061:Cndp1 APN 18 84,652,751 (GRCm39) missense probably damaging 1.00
IGL02731:Cndp1 APN 18 84,650,083 (GRCm39) missense probably damaging 0.99
R0098:Cndp1 UTSW 18 84,646,949 (GRCm39) missense probably damaging 0.99
R0098:Cndp1 UTSW 18 84,646,949 (GRCm39) missense probably damaging 0.99
R0285:Cndp1 UTSW 18 84,636,363 (GRCm39) missense possibly damaging 0.72
R0494:Cndp1 UTSW 18 84,637,658 (GRCm39) missense probably benign 0.01
R0967:Cndp1 UTSW 18 84,652,777 (GRCm39) splice site probably benign
R0968:Cndp1 UTSW 18 84,652,777 (GRCm39) splice site probably benign
R0969:Cndp1 UTSW 18 84,652,777 (GRCm39) splice site probably benign
R1069:Cndp1 UTSW 18 84,652,777 (GRCm39) splice site probably benign
R1170:Cndp1 UTSW 18 84,629,750 (GRCm39) missense probably benign 0.00
R1340:Cndp1 UTSW 18 84,652,777 (GRCm39) splice site probably benign
R1414:Cndp1 UTSW 18 84,652,777 (GRCm39) splice site probably benign
R1432:Cndp1 UTSW 18 84,652,777 (GRCm39) splice site probably benign
R1891:Cndp1 UTSW 18 84,637,758 (GRCm39) missense probably null 1.00
R3912:Cndp1 UTSW 18 84,650,124 (GRCm39) missense probably benign 0.00
R4024:Cndp1 UTSW 18 84,646,938 (GRCm39) missense probably damaging 1.00
R4238:Cndp1 UTSW 18 84,636,342 (GRCm39) missense probably benign
R4564:Cndp1 UTSW 18 84,640,411 (GRCm39) missense probably damaging 1.00
R4989:Cndp1 UTSW 18 84,650,025 (GRCm39) missense probably damaging 0.99
R5015:Cndp1 UTSW 18 84,650,036 (GRCm39) missense probably damaging 1.00
R5108:Cndp1 UTSW 18 84,650,186 (GRCm39) missense probably damaging 1.00
R5502:Cndp1 UTSW 18 84,650,138 (GRCm39) missense possibly damaging 0.56
R5835:Cndp1 UTSW 18 84,630,958 (GRCm39) missense probably benign 0.00
R6396:Cndp1 UTSW 18 84,650,135 (GRCm39) missense probably benign
R6549:Cndp1 UTSW 18 84,654,309 (GRCm39) missense probably benign 0.04
R7251:Cndp1 UTSW 18 84,640,322 (GRCm39) missense probably benign
R7465:Cndp1 UTSW 18 84,637,666 (GRCm39) missense probably damaging 1.00
R7638:Cndp1 UTSW 18 84,654,174 (GRCm39) missense probably benign 0.36
R7812:Cndp1 UTSW 18 84,655,994 (GRCm39) missense probably benign
R7921:Cndp1 UTSW 18 84,640,383 (GRCm39) missense probably benign 0.11
R8408:Cndp1 UTSW 18 84,650,049 (GRCm39) missense possibly damaging 0.71
R8693:Cndp1 UTSW 18 84,646,938 (GRCm39) missense probably damaging 1.00
R9688:Cndp1 UTSW 18 84,655,982 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07