Incidental Mutation 'R5722:Cndp2'
ID 452299
Institutional Source Beutler Lab
Gene Symbol Cndp2
Ensembl Gene ENSMUSG00000024644
Gene Name CNDP dipeptidase 2
Synonyms Pep-1, Pep1, Cn2, 0610010E05Rik, Dip-2
MMRRC Submission 043340-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5722 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 84685590-84703827 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 84686203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 461 (K461*)
Ref Sequence ENSEMBL: ENSMUSP00000128696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025546] [ENSMUST00000168419]
AlphaFold Q9D1A2
Predicted Effect probably null
Transcript: ENSMUST00000025546
AA Change: K461*
SMART Domains Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: K461*

DomainStartEndE-ValueType
low complexity region 75 82 N/A INTRINSIC
Pfam:Peptidase_M20 95 469 6.8e-35 PFAM
Pfam:M20_dimer 208 369 2.1e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168419
AA Change: K461*
SMART Domains Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: K461*

DomainStartEndE-ValueType
low complexity region 75 82 N/A INTRINSIC
Pfam:Peptidase_M20 95 469 6.2e-33 PFAM
Pfam:M20_dimer 208 369 2.1e-15 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,772,194 (GRCm39) R164H probably damaging Het
Afg3l2 A G 18: 67,573,269 (GRCm39) Y178H probably benign Het
Agtr1a A G 13: 30,566,016 (GRCm39) *360W probably null Het
Arfgef1 A G 1: 10,209,109 (GRCm39) V1830A probably benign Het
Asic2 A T 11: 81,858,806 (GRCm39) S69T probably benign Het
Axin1 A T 17: 26,401,531 (GRCm39) N368Y probably damaging Het
Brme1 A G 8: 84,898,473 (GRCm39) E537G probably damaging Het
Ces1d G A 8: 93,904,756 (GRCm39) P328L probably benign Het
Cntnap5c A T 17: 58,620,852 (GRCm39) H977L probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glg1 T C 8: 111,896,194 (GRCm39) T177A possibly damaging Het
Gm7168 T C 17: 14,169,824 (GRCm39) V397A probably benign Het
Hif1a T A 12: 73,988,533 (GRCm39) D535E probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 T C 13: 70,763,219 (GRCm39) E173G possibly damaging Het
Ighmbp2 A G 19: 3,329,909 (GRCm39) V115A probably damaging Het
Irf2 A T 8: 47,271,831 (GRCm39) E101D possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kyat1 C T 2: 30,078,123 (GRCm39) C127Y probably damaging Het
Mrgpra4 T C 7: 47,630,755 (GRCm39) H282R probably benign Het
Npsr1 C A 9: 24,225,096 (GRCm39) P368Q probably damaging Het
Nwd1 G A 8: 73,401,872 (GRCm39) V839M probably damaging Het
Or51a43 T A 7: 103,717,930 (GRCm39) M103L probably damaging Het
Or6n2 G T 1: 173,897,436 (GRCm39) D191Y probably damaging Het
P4ha3 A G 7: 99,955,198 (GRCm39) D351G probably benign Het
Pard3b T A 1: 62,479,160 (GRCm39) probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pik3c2b G T 1: 133,031,574 (GRCm39) G1505W probably damaging Het
Plppr5 A T 3: 117,414,714 (GRCm39) I112L probably benign Het
Potefam1 T A 2: 111,034,468 (GRCm39) T355S probably benign Het
Ptprq A G 10: 107,522,226 (GRCm39) I575T possibly damaging Het
Ranbp3l A G 15: 9,029,656 (GRCm39) E46G probably damaging Het
Rbm46 A G 3: 82,772,640 (GRCm39) V164A possibly damaging Het
Sap25 A G 5: 137,639,713 (GRCm39) E13G probably benign Het
Setbp1 A T 18: 78,899,860 (GRCm39) V1269E possibly damaging Het
Smgc T A 15: 91,726,109 (GRCm39) S18R possibly damaging Het
Snrk T C 9: 121,993,072 (GRCm39) I345T probably benign Het
Sp4 T A 12: 118,262,976 (GRCm39) I357F possibly damaging Het
Sra1 A G 18: 36,808,031 (GRCm39) L399P probably damaging Het
Stat6 A G 10: 127,494,242 (GRCm39) T658A probably benign Het
Sv2a G A 3: 96,092,339 (GRCm39) R13H probably benign Het
Thoc3 G T 13: 54,608,014 (GRCm39) T310N probably damaging Het
Tox3 A C 8: 91,074,489 (GRCm39) probably null Het
Trpc6 A G 9: 8,680,550 (GRCm39) E848G possibly damaging Het
Ttn T A 2: 76,538,590 (GRCm39) T34703S possibly damaging Het
Ttn T C 2: 76,776,312 (GRCm39) I1577V probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Ugt2b36 C T 5: 87,240,297 (GRCm39) W29* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Zfp790 C A 7: 29,529,514 (GRCm39) S733* probably null Het
Other mutations in Cndp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Cndp2 APN 18 84,695,501 (GRCm39) missense probably damaging 1.00
IGL01143:Cndp2 APN 18 84,695,442 (GRCm39) critical splice donor site probably null
IGL01310:Cndp2 APN 18 84,689,002 (GRCm39) missense possibly damaging 0.95
IGL01408:Cndp2 APN 18 84,689,036 (GRCm39) missense probably benign
IGL01520:Cndp2 APN 18 84,686,732 (GRCm39) missense probably benign 0.03
IGL02095:Cndp2 APN 18 84,699,157 (GRCm39) missense possibly damaging 0.67
R1108:Cndp2 UTSW 18 84,693,185 (GRCm39) missense probably damaging 1.00
R1264:Cndp2 UTSW 18 84,696,916 (GRCm39) missense possibly damaging 0.88
R1466:Cndp2 UTSW 18 84,695,440 (GRCm39) splice site probably benign
R1584:Cndp2 UTSW 18 84,695,440 (GRCm39) splice site probably benign
R2363:Cndp2 UTSW 18 84,686,694 (GRCm39) missense probably damaging 0.96
R2383:Cndp2 UTSW 18 84,693,215 (GRCm39) missense possibly damaging 0.82
R3153:Cndp2 UTSW 18 84,686,722 (GRCm39) missense probably benign 0.02
R4590:Cndp2 UTSW 18 84,687,933 (GRCm39) missense probably damaging 1.00
R4788:Cndp2 UTSW 18 84,693,289 (GRCm39) missense probably damaging 1.00
R5033:Cndp2 UTSW 18 84,688,954 (GRCm39) missense possibly damaging 0.94
R5154:Cndp2 UTSW 18 84,686,727 (GRCm39) missense probably benign 0.00
R5178:Cndp2 UTSW 18 84,693,153 (GRCm39) missense probably benign 0.00
R5326:Cndp2 UTSW 18 84,690,201 (GRCm39) missense probably damaging 1.00
R5542:Cndp2 UTSW 18 84,690,201 (GRCm39) missense probably damaging 1.00
R5556:Cndp2 UTSW 18 84,690,249 (GRCm39) missense probably benign 0.38
R6431:Cndp2 UTSW 18 84,693,203 (GRCm39) nonsense probably null
R6682:Cndp2 UTSW 18 84,695,455 (GRCm39) missense probably benign 0.00
R7036:Cndp2 UTSW 18 84,688,070 (GRCm39) missense possibly damaging 0.94
R7728:Cndp2 UTSW 18 84,690,202 (GRCm39) missense probably benign 0.00
R7806:Cndp2 UTSW 18 84,688,945 (GRCm39) missense probably benign
R8018:Cndp2 UTSW 18 84,686,727 (GRCm39) missense probably benign 0.00
R8929:Cndp2 UTSW 18 84,693,298 (GRCm39) missense probably benign 0.20
R8949:Cndp2 UTSW 18 84,693,130 (GRCm39) missense probably damaging 1.00
R9127:Cndp2 UTSW 18 84,699,121 (GRCm39) missense probably benign 0.01
R9455:Cndp2 UTSW 18 84,690,246 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGCTGGAGGCAATGTCTC -3'
(R):5'- CTCTTCTTGAGAACCATCAGGC -3'

Sequencing Primer
(F):5'- GAGGCAATGTCTCCATTCTTGC -3'
(R):5'- GAACCATCAGGCTGAATTATAAAGTC -3'
Posted On 2017-01-03