Incidental Mutation 'R7251:Cndp1'
ID 563957
Institutional Source Beutler Lab
Gene Symbol Cndp1
Ensembl Gene ENSMUSG00000056162
Gene Name carnosine dipeptidase 1
Synonyms Cn1
MMRRC Submission 045313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7251 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 84628634-84668220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84640322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 294 (E294D)
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: E294D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069699
Gene: ENSMUSG00000056162
AA Change: E294D

DomainStartEndE-ValueType
Pfam:Peptidase_M20 103 477 4.3e-33 PFAM
Pfam:M20_dimer 216 377 3.4e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Adamts19 A T 18: 58,970,974 (GRCm39) D186V probably damaging Het
Agrn T C 4: 156,259,063 (GRCm39) D884G probably damaging Het
Akr1c6 T A 13: 4,497,019 (GRCm39) C154S probably damaging Het
Apob T C 12: 8,057,037 (GRCm39) Y1840H probably damaging Het
Arfgef1 T C 1: 10,269,200 (GRCm39) E399G possibly damaging Het
Arg2 G A 12: 79,197,572 (GRCm39) G197S probably damaging Het
Arhgap32 T C 9: 32,119,481 (GRCm39) V308A probably damaging Het
Atcay A T 10: 81,046,366 (GRCm39) C319* probably null Het
Bend4 C G 5: 67,584,876 (GRCm39) R16P unknown Het
Braf A G 6: 39,654,504 (GRCm39) probably null Het
Camsap1 T C 2: 25,828,898 (GRCm39) E942G probably damaging Het
Cdpf1 C T 15: 85,693,494 (GRCm39) G11D probably damaging Het
Cgn T C 3: 94,683,509 (GRCm39) E382G possibly damaging Het
Cnn1 T A 9: 22,019,513 (GRCm39) Y294N unknown Het
Cyp2ab1 A G 16: 20,134,646 (GRCm39) F104S possibly damaging Het
Cyp2t4 G A 7: 26,857,144 (GRCm39) V336M possibly damaging Het
D430041D05Rik T A 2: 104,051,511 (GRCm39) D782V probably damaging Het
Ddx39b A G 17: 35,472,464 (GRCm39) *429W probably null Het
Dgkb T C 12: 38,031,985 (GRCm39) S16P possibly damaging Het
Dll4 T C 2: 119,162,773 (GRCm39) C465R probably damaging Het
Dsp A G 13: 38,377,524 (GRCm39) I1770V probably benign Het
Fbxw11 A G 11: 32,681,370 (GRCm39) N250S probably benign Het
Fsip2 G A 2: 82,809,425 (GRCm39) V1915M possibly damaging Het
Greb1l G A 18: 10,515,319 (GRCm39) V704M probably damaging Het
Hgf T A 5: 16,798,942 (GRCm39) N323K possibly damaging Het
Hhatl A T 9: 121,614,116 (GRCm39) probably null Het
Hip1r T C 5: 124,132,813 (GRCm39) S204P probably damaging Het
Igsf10 T A 3: 59,226,875 (GRCm39) N2266I probably damaging Het
Krtap15-1 A G 16: 88,625,982 (GRCm39) probably null Het
Lrp1 T C 10: 127,408,423 (GRCm39) D1751G probably damaging Het
Madd A T 2: 90,992,521 (GRCm39) D1050E probably benign Het
Man1c1 C T 4: 134,308,147 (GRCm39) G323R probably damaging Het
Mgll A G 6: 88,800,357 (GRCm39) E252G probably benign Het
Muc2 A G 7: 141,278,965 (GRCm39) N145S possibly damaging Het
Ncoa2 C T 1: 13,218,599 (GRCm39) S1410N probably benign Het
Nek10 A G 14: 14,853,965 (GRCm38) T384A probably benign Het
Nexn T C 3: 151,952,832 (GRCm39) E310G probably damaging Het
Nol10 T C 12: 17,452,108 (GRCm39) L354P probably damaging Het
Npy4r T C 14: 33,868,872 (GRCm39) R139G probably damaging Het
Nup160 A G 2: 90,530,518 (GRCm39) E463G probably damaging Het
Or14c44 T C 7: 86,062,209 (GRCm39) V213A probably benign Het
Or52a33 C T 7: 103,288,909 (GRCm39) G146D probably damaging Het
Or8j3c G A 2: 86,253,940 (GRCm39) L27F probably benign Het
Pdzd8 A T 19: 59,289,077 (GRCm39) N774K possibly damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pot1a T C 6: 25,752,497 (GRCm39) probably null Het
Ppip5k1 T A 2: 121,178,052 (GRCm39) E283D probably benign Het
Ptpn2 A C 18: 67,808,862 (GRCm39) I318R possibly damaging Het
Raph1 A G 1: 60,529,027 (GRCm39) F745L unknown Het
Rgs19 C T 2: 181,331,541 (GRCm39) V88I probably benign Het
Ripk4 A G 16: 97,544,449 (GRCm39) S733P probably benign Het
Rprd1b T A 2: 157,870,899 (GRCm39) W29R probably damaging Het
Rtkn A G 6: 83,112,943 (GRCm39) N5S probably damaging Het
Sh3bp5l A T 11: 58,232,128 (GRCm39) Q131L probably damaging Het
Slain2 T A 5: 73,131,891 (GRCm39) F461I possibly damaging Het
Stk24 A T 14: 121,545,434 (GRCm39) L108Q probably damaging Het
Syne3 TC T 12: 104,927,830 (GRCm39) probably null Het
Tapbpl A T 6: 125,203,558 (GRCm39) V374E probably damaging Het
Tax1bp1 A G 6: 52,698,341 (GRCm39) I18V possibly damaging Het
Tecta T A 9: 42,299,048 (GRCm39) I233F probably damaging Het
Tet3 A G 6: 83,381,038 (GRCm39) S377P probably benign Het
Uty A G Y: 1,154,262 (GRCm39) S721P probably benign Het
Wnk4 C A 11: 101,155,979 (GRCm39) T412K possibly damaging Het
Zdhhc11 G T 13: 74,140,216 (GRCm39) V336L probably benign Het
Zfp605 T A 5: 110,275,826 (GRCm39) S315T probably damaging Het
Zfp746 A G 6: 48,041,811 (GRCm39) L305P probably damaging Het
Other mutations in Cndp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Cndp1 APN 18 84,629,790 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- GCCGTGAATGTCAAAACTAGC -3'
(R):5'- GTACTTTTGCCACCTGGAGG -3'

Sequencing Primer
(F):5'- AACTAGCCTGCAATTTAACCTTTGC -3'
(R):5'- CTTAATTTGGCCTGGCTCTGG -3'
Posted On 2019-06-26