Incidental Mutation 'R2414:Cpn2'
ID 250120
Institutional Source Beutler Lab
Gene Symbol Cpn2
Ensembl Gene ENSMUSG00000023176
Gene Name carboxypeptidase N, polypeptide 2
Synonyms 1300018K11Rik
MMRRC Submission 040378-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2414 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 30075196-30086317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30079392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 103 (E103G)
Ref Sequence ENSEMBL: ENSMUSP00000069318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064856]
AlphaFold Q9DBB9
Predicted Effect probably benign
Transcript: ENSMUST00000064856
AA Change: E103G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069318
Gene: ENSMUSG00000023176
AA Change: E103G

DomainStartEndE-ValueType
LRRNT 21 53 3.21e-8 SMART
LRR 96 119 1.22e2 SMART
LRR 120 143 5.11e0 SMART
LRR_TYP 144 167 2.71e-2 SMART
LRR_TYP 168 191 3.21e-4 SMART
LRR_TYP 192 215 5.9e-3 SMART
LRR_TYP 216 239 6.88e-4 SMART
LRR 240 263 6.57e-1 SMART
LRR_TYP 264 287 2.12e-4 SMART
LRR 289 311 3.07e-1 SMART
LRR_TYP 312 335 2.61e-4 SMART
LRR_TYP 336 359 5.9e-3 SMART
LRR_TYP 360 383 2.79e-4 SMART
LRRCT 395 446 7.34e-9 SMART
Meta Mutation Damage Score 0.0919 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 C A 9: 121,738,040 (GRCm39) S138R probably damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Arfgef2 A G 2: 166,687,424 (GRCm39) E216G probably benign Het
Aspscr1 T C 11: 120,580,048 (GRCm39) S196P probably benign Het
AU040320 A T 4: 126,762,484 (GRCm39) probably null Het
BC002059 T C 17: 17,193,932 (GRCm39) noncoding transcript Het
Cep112 A G 11: 108,643,408 (GRCm39) N799S possibly damaging Het
Cilp A G 9: 65,181,927 (GRCm39) probably benign Het
Cpt1b G A 15: 89,304,283 (GRCm39) probably benign Het
Epor T A 9: 21,870,785 (GRCm39) D365V probably damaging Het
H2bc21 T A 3: 96,128,750 (GRCm39) I90N possibly damaging Het
Hip1r T C 5: 124,139,306 (GRCm39) Y900H probably damaging Het
Hoxc9 A T 15: 102,892,540 (GRCm39) N251I probably damaging Het
Hpd C T 5: 123,315,587 (GRCm39) probably null Het
Lrrc34 T A 3: 30,688,711 (GRCm39) I197L probably benign Het
Msi2 A G 11: 88,607,373 (GRCm39) V78A probably damaging Het
Myh4 A G 11: 67,141,594 (GRCm39) I818V probably benign Het
Nol4 T C 18: 22,956,629 (GRCm39) probably null Het
Plekha5 A G 6: 140,496,582 (GRCm39) N362S probably damaging Het
Polr1b A G 2: 128,945,054 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,289,831 (GRCm39) probably null Het
Sgsm3 A G 15: 80,890,946 (GRCm39) N136D probably benign Het
Slco1a5 A G 6: 142,181,976 (GRCm39) C583R probably damaging Het
Surf1 A G 2: 26,806,295 (GRCm39) W13R probably damaging Het
Tesk2 T C 4: 116,658,954 (GRCm39) W276R possibly damaging Het
Tmem8b A G 4: 43,673,892 (GRCm39) probably benign Het
Togaram2 T G 17: 72,023,304 (GRCm39) probably benign Het
Ttll11 A G 2: 35,869,546 (GRCm39) S31P unknown Het
Ttll8 A G 15: 88,820,336 (GRCm39) probably benign Het
Tub A G 7: 108,626,240 (GRCm39) K259E probably damaging Het
Ube2o T C 11: 116,439,683 (GRCm39) I162M probably benign Het
Vamp8 C T 6: 72,365,326 (GRCm39) M1I probably null Het
Zfp503 C A 14: 22,036,032 (GRCm39) G295* probably null Het
Other mutations in Cpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Cpn2 APN 16 30,079,338 (GRCm39) missense probably benign 0.42
IGL01954:Cpn2 APN 16 30,079,138 (GRCm39) missense probably benign 0.01
IGL02458:Cpn2 APN 16 30,079,653 (GRCm39) missense probably benign 0.00
IGL03036:Cpn2 APN 16 30,079,647 (GRCm39) missense probably benign 0.00
BB002:Cpn2 UTSW 16 30,079,619 (GRCm39) missense probably damaging 1.00
BB012:Cpn2 UTSW 16 30,079,619 (GRCm39) missense probably damaging 1.00
R0118:Cpn2 UTSW 16 30,079,186 (GRCm39) missense probably benign 0.04
R0541:Cpn2 UTSW 16 30,078,169 (GRCm39) missense possibly damaging 0.73
R1300:Cpn2 UTSW 16 30,078,481 (GRCm39) missense probably benign 0.01
R1470:Cpn2 UTSW 16 30,079,003 (GRCm39) missense probably benign 0.00
R1470:Cpn2 UTSW 16 30,079,003 (GRCm39) missense probably benign 0.00
R1751:Cpn2 UTSW 16 30,078,485 (GRCm39) nonsense probably null
R1753:Cpn2 UTSW 16 30,078,918 (GRCm39) missense probably damaging 1.00
R1761:Cpn2 UTSW 16 30,079,014 (GRCm39) missense probably damaging 1.00
R1767:Cpn2 UTSW 16 30,078,485 (GRCm39) nonsense probably null
R1793:Cpn2 UTSW 16 30,078,142 (GRCm39) missense probably damaging 1.00
R2360:Cpn2 UTSW 16 30,078,321 (GRCm39) missense probably benign 0.01
R3842:Cpn2 UTSW 16 30,079,336 (GRCm39) missense probably damaging 1.00
R4934:Cpn2 UTSW 16 30,079,344 (GRCm39) missense probably damaging 1.00
R4956:Cpn2 UTSW 16 30,079,233 (GRCm39) missense possibly damaging 0.56
R5593:Cpn2 UTSW 16 30,078,898 (GRCm39) missense probably benign 0.02
R5864:Cpn2 UTSW 16 30,078,501 (GRCm39) missense probably damaging 1.00
R6755:Cpn2 UTSW 16 30,079,149 (GRCm39) missense probably damaging 1.00
R7833:Cpn2 UTSW 16 30,079,163 (GRCm39) missense probably damaging 1.00
R7925:Cpn2 UTSW 16 30,079,619 (GRCm39) missense probably damaging 1.00
R8441:Cpn2 UTSW 16 30,078,849 (GRCm39) missense probably damaging 1.00
R8679:Cpn2 UTSW 16 30,078,085 (GRCm39) missense possibly damaging 0.90
R8844:Cpn2 UTSW 16 30,078,115 (GRCm39) missense probably damaging 1.00
R9406:Cpn2 UTSW 16 30,078,360 (GRCm39) missense probably benign 0.02
R9523:Cpn2 UTSW 16 30,078,759 (GRCm39) missense possibly damaging 0.89
RF021:Cpn2 UTSW 16 30,078,156 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGATCCCTCAGAGACTGGAATAG -3'
(R):5'- AGGTCTTCTGCTCAGACGAG -3'

Sequencing Primer
(F):5'- AATAGTCTCCCGGGCAAGGTTC -3'
(R):5'- AGCAGCTGGCCGACATC -3'
Posted On 2014-11-12