Incidental Mutation 'IGL00904:Cndp1'
ID29398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cndp1
Ensembl Gene ENSMUSG00000056162
Gene Namecarnosine dipeptidase 1 (metallopeptidase M20 family)
SynonymsCn1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL00904
Quality Score
Status
Chromosome18
Chromosomal Location84610509-84650084 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84611665 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 468 (S468P)
Ref Sequence ENSEMBL: ENSMUSP00000069699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070139]
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: 86,946,153 G236C probably damaging Het
Abi1 C T 2: 22,941,930 R404Q possibly damaging Het
Atp8b3 C T 10: 80,528,764 G532R probably damaging Het
Bysl C T 17: 47,601,871 M331I probably benign Het
Esd A G 14: 74,749,688 *266W probably null Het
F5 T C 1: 164,194,009 V1351A probably benign Het
Fchsd2 A G 7: 101,271,622 D454G probably benign Het
Fndc1 T A 17: 7,756,363 M1415L probably benign Het
Ghr T A 15: 3,328,120 Y222F probably benign Het
Gm6583 G A 5: 112,355,128 R237* probably null Het
Gtf3c2 C T 5: 31,172,858 S299N probably damaging Het
Ice1 C T 13: 70,602,289 D93N probably damaging Het
Ints7 T A 1: 191,596,164 probably null Het
Kif18a A G 2: 109,292,126 D182G probably damaging Het
Mcm9 A T 10: 53,622,921 H308Q possibly damaging Het
Mesp2 A G 7: 79,812,653 D319G probably benign Het
Mrpl55 T A 11: 59,205,673 S84T probably benign Het
Mybpc3 T C 2: 91,120,029 V123A probably benign Het
Myom1 T C 17: 71,099,949 probably benign Het
Nfia C T 4: 98,065,386 P325S probably damaging Het
Notch4 T C 17: 34,575,561 probably null Het
Npepps A C 11: 97,258,306 V130G probably damaging Het
Olfr1356 A T 10: 78,847,763 S51T probably damaging Het
Pja2 G T 17: 64,283,531 T669K probably damaging Het
Rnf112 G T 11: 61,452,784 D98E probably damaging Het
Rsl1d1 G A 16: 11,199,694 T136I probably damaging Het
Samsn1 A T 16: 75,909,120 probably benign Het
Slc6a9 T C 4: 117,864,617 L280P probably damaging Het
Svep1 T C 4: 58,097,398 N1382D probably benign Het
Vmn2r100 T G 17: 19,526,000 C474G probably damaging Het
Vmn2r74 C T 7: 85,957,580 R186H probably benign Het
Wdr7 T C 18: 63,796,231 I1046T probably benign Het
Other mutations in Cndp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Cndp1 APN 18 84622232 missense probably benign 0.01
IGL01762:Cndp1 APN 18 84622286 missense probably damaging 1.00
IGL02061:Cndp1 APN 18 84634626 missense probably damaging 1.00
IGL02731:Cndp1 APN 18 84631958 missense probably damaging 0.99
R0098:Cndp1 UTSW 18 84628824 missense probably damaging 0.99
R0098:Cndp1 UTSW 18 84628824 missense probably damaging 0.99
R0285:Cndp1 UTSW 18 84618238 missense possibly damaging 0.72
R0494:Cndp1 UTSW 18 84619533 missense probably benign 0.01
R0967:Cndp1 UTSW 18 84634652 splice site probably benign
R0968:Cndp1 UTSW 18 84634652 splice site probably benign
R0969:Cndp1 UTSW 18 84634652 splice site probably benign
R1069:Cndp1 UTSW 18 84634652 splice site probably benign
R1170:Cndp1 UTSW 18 84611625 missense probably benign 0.00
R1340:Cndp1 UTSW 18 84634652 splice site probably benign
R1414:Cndp1 UTSW 18 84634652 splice site probably benign
R1432:Cndp1 UTSW 18 84634652 splice site probably benign
R1891:Cndp1 UTSW 18 84619633 missense probably null 1.00
R3912:Cndp1 UTSW 18 84631999 missense probably benign 0.00
R4024:Cndp1 UTSW 18 84628813 missense probably damaging 1.00
R4238:Cndp1 UTSW 18 84618217 missense probably benign
R4564:Cndp1 UTSW 18 84622286 missense probably damaging 1.00
R4989:Cndp1 UTSW 18 84631900 missense probably damaging 0.99
R5015:Cndp1 UTSW 18 84631911 missense probably damaging 1.00
R5108:Cndp1 UTSW 18 84632061 missense probably damaging 1.00
R5502:Cndp1 UTSW 18 84632013 missense possibly damaging 0.56
R5835:Cndp1 UTSW 18 84612833 missense probably benign 0.00
R6396:Cndp1 UTSW 18 84632010 missense probably benign
R6549:Cndp1 UTSW 18 84636184 missense probably benign 0.04
R7251:Cndp1 UTSW 18 84622197 missense probably benign
R7465:Cndp1 UTSW 18 84619541 missense probably damaging 1.00
Posted On2013-04-17