Incidental Mutation 'IGL00904:Cndp1'
ID 29398
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 # IGL00904
Quality Score
Status
Chromosome 18
Chromosomal Location 84628634-84668220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84629790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 468 (S468P)
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: S468P

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000069699
Gene: ENSMUSG00000056162
AA Change: S468P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,923,135 (GRCm39) G236C probably damaging Het
Abi1 C T 2: 22,831,942 (GRCm39) R404Q possibly damaging Het
Atp8b3 C T 10: 80,364,598 (GRCm39) G532R probably damaging Het
Bysl C T 17: 47,912,796 (GRCm39) M331I probably benign Het
Ccdc121rt3 G A 5: 112,502,994 (GRCm39) R237* probably null Het
Esd A G 14: 74,987,128 (GRCm39) *266W probably null Het
F5 T C 1: 164,021,578 (GRCm39) V1351A probably benign Het
Fchsd2 A G 7: 100,920,829 (GRCm39) D454G probably benign Het
Fndc1 T A 17: 7,975,195 (GRCm39) M1415L probably benign Het
Ghr T A 15: 3,357,602 (GRCm39) Y222F probably benign Het
Gtf3c2 C T 5: 31,330,202 (GRCm39) S299N probably damaging Het
Ice1 C T 13: 70,750,408 (GRCm39) D93N probably damaging Het
Ints7 T A 1: 191,328,276 (GRCm39) probably null Het
Kif18a A G 2: 109,122,471 (GRCm39) D182G probably damaging Het
Mcm9 A T 10: 53,499,017 (GRCm39) H308Q possibly damaging Het
Mesp2 A G 7: 79,462,401 (GRCm39) D319G probably benign Het
Mrpl55 T A 11: 59,096,499 (GRCm39) S84T probably benign Het
Mybpc3 T C 2: 90,950,374 (GRCm39) V123A probably benign Het
Myom1 T C 17: 71,406,944 (GRCm39) probably benign Het
Nfia C T 4: 97,953,623 (GRCm39) P325S probably damaging Het
Notch4 T C 17: 34,794,535 (GRCm39) probably null Het
Npepps A C 11: 97,149,132 (GRCm39) V130G probably damaging Het
Or7c70 A T 10: 78,683,597 (GRCm39) S51T probably damaging Het
Pja2 G T 17: 64,590,526 (GRCm39) T669K probably damaging Het
Rnf112 G T 11: 61,343,610 (GRCm39) D98E probably damaging Het
Rsl1d1 G A 16: 11,017,558 (GRCm39) T136I probably damaging Het
Samsn1 A T 16: 75,706,008 (GRCm39) probably benign Het
Slc6a9 T C 4: 117,721,814 (GRCm39) L280P probably damaging Het
Svep1 T C 4: 58,097,398 (GRCm39) N1382D probably benign Het
Vmn2r100 T G 17: 19,746,262 (GRCm39) C474G probably damaging Het
Vmn2r74 C T 7: 85,606,788 (GRCm39) R186H probably benign Het
Wdr7 T C 18: 63,929,302 (GRCm39) I1046T probably benign Het
Other mutations in Cndp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Cndp1 APN 18 84,640,357 (GRCm39) missense probably benign 0.01
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 2013-04-17