Incidental Mutation 'R5593:Cpn2'
ID 437660
Institutional Source Beutler Lab
Gene Symbol Cpn2
Ensembl Gene ENSMUSG00000023176
Gene Name carboxypeptidase N, polypeptide 2
Synonyms 1300018K11Rik
MMRRC Submission 043145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R5593 (G1)
Quality Score 222
Status Validated
Chromosome 16
Chromosomal Location 30075196-30086317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30078898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 268 (T268A)
Ref Sequence ENSEMBL: ENSMUSP00000069318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064856]
AlphaFold Q9DBB9
Predicted Effect probably benign
Transcript: ENSMUST00000064856
AA Change: T268A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000069318
Gene: ENSMUSG00000023176
AA Change: T268A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231234
Meta Mutation Damage Score 0.2192 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
Anpep T G 7: 79,491,794 (GRCm39) K69T probably benign Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
Copb2 A G 9: 98,469,091 (GRCm39) probably null Het
Cpa5 T C 6: 30,630,848 (GRCm39) I370T probably benign Het
Ctbp2 C A 7: 132,600,598 (GRCm39) R99I possibly damaging Het
Cul1 G A 6: 47,462,020 (GRCm39) W196* probably null Het
Cul1 T C 6: 47,491,925 (GRCm39) F402L probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Dyrk1a C A 16: 94,460,442 (GRCm39) Q33K possibly damaging Het
Elapor2 T A 5: 9,316,350 (GRCm39) L27Q probably benign Het
Epg5 T A 18: 78,000,689 (GRCm39) S542T probably damaging Het
Eps8l3 A T 3: 107,798,504 (GRCm39) probably benign Het
Evc2 A G 5: 37,544,321 (GRCm39) H690R probably damaging Het
Fam227a G A 15: 79,524,259 (GRCm39) probably benign Het
Gadl1 G T 9: 115,835,718 (GRCm39) G382V probably damaging Het
Gbf1 A G 19: 46,260,963 (GRCm39) Q1176R possibly damaging Het
Gdf9 A T 11: 53,324,558 (GRCm39) H109L probably damaging Het
Gsdmd T A 15: 75,738,856 (GRCm39) V411D probably damaging Het
Hdc T C 2: 126,460,504 (GRCm39) probably benign Het
Ifrd2 A G 9: 107,467,374 (GRCm39) D82G probably damaging Het
Itpkb T C 1: 180,161,661 (GRCm39) S596P probably damaging Het
Kcnmb3 A G 3: 32,546,096 (GRCm39) V8A possibly damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mcm9 G A 10: 53,414,393 (GRCm39) T229I probably damaging Het
Medag T A 5: 149,350,415 (GRCm39) F21L probably benign Het
Mefv A T 16: 3,533,315 (GRCm39) C319S probably benign Het
Mettl23 T A 11: 116,734,593 (GRCm39) V54D probably damaging Het
Mul1 A G 4: 138,166,543 (GRCm39) D199G probably damaging Het
Ncor1 A T 11: 62,260,130 (GRCm39) I266N probably damaging Het
Nek10 A T 14: 14,980,544 (GRCm38) K967* probably null Het
Nrcam A G 12: 44,606,483 (GRCm39) T410A probably damaging Het
Or1p1 A G 11: 74,179,618 (GRCm39) I49V possibly damaging Het
Or2b11 T C 11: 59,461,874 (GRCm39) R231G possibly damaging Het
Or52d13 C T 7: 103,109,592 (GRCm39) silent Het
Or52e4 T C 7: 104,705,711 (GRCm39) I86T probably damaging Het
Pate2 A T 9: 35,581,778 (GRCm39) D24V possibly damaging Het
Plcb3 T C 19: 6,932,117 (GRCm39) I1124V possibly damaging Het
Ptprc A T 1: 138,045,458 (GRCm39) probably benign Het
Rab6a T C 7: 100,257,378 (GRCm39) probably benign Het
Rnf208 G T 2: 25,133,345 (GRCm39) W13L possibly damaging Het
Rps6kl1 G T 12: 85,193,675 (GRCm39) Q139K possibly damaging Het
Sdk1 T A 5: 141,941,879 (GRCm39) I509N probably damaging Het
Sephs1 A G 2: 4,898,098 (GRCm39) I170V probably benign Het
Slc17a8 C T 10: 89,442,702 (GRCm39) D44N probably benign Het
Slc23a1 T A 18: 35,755,349 (GRCm39) I489F probably damaging Het
Slc25a19 A T 11: 115,507,418 (GRCm39) Y235N probably damaging Het
Slc47a2 A G 11: 61,233,486 (GRCm39) V40A probably benign Het
Slurp2 C T 15: 74,614,917 (GRCm39) V75I probably benign Het
Smc1b A C 15: 85,005,842 (GRCm39) M354R probably benign Het
Spice1 C A 16: 44,191,115 (GRCm39) A323E possibly damaging Het
Sptbn2 T A 19: 4,798,975 (GRCm39) V2015E probably damaging Het
Sptlc2 A C 12: 87,415,857 (GRCm39) F57V probably benign Het
Srsf1 A G 11: 87,938,705 (GRCm39) N14S possibly damaging Het
Ssh2 T A 11: 77,312,192 (GRCm39) D228E probably damaging Het
Synj2 A G 17: 6,088,390 (GRCm39) *1480W probably null Het
Syt14 A T 1: 192,613,231 (GRCm39) M523K probably damaging Het
Tff3 A T 17: 31,348,516 (GRCm39) V12E probably benign Het
Tgm2 C A 2: 157,969,262 (GRCm39) C371F probably damaging Het
Tmem260 A C 14: 48,711,501 (GRCm39) I197L probably benign Het
Unc5a A G 13: 55,152,747 (GRCm39) D887G possibly damaging Het
Vstm4 G T 14: 32,641,247 (GRCm39) A277S probably benign Het
Wdtc1 A T 4: 133,021,702 (GRCm39) probably null Het
Zan A G 5: 137,466,600 (GRCm39) F419S possibly damaging Het
Zfp317 G A 9: 19,558,584 (GRCm39) R266Q probably damaging Het
Zfp931 T A 2: 177,709,595 (GRCm39) T264S possibly damaging Het
Zpld2 T C 4: 133,920,350 (GRCm39) K605R probably damaging 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
R2414:Cpn2 UTSW 16 30,079,392 (GRCm39) missense probably benign 0.41
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
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'- AGGTTCCTGAAAACATGCTCG -3'
(R):5'- ATATGCTTGCCAGACTCCCC -3'

Sequencing Primer
(F):5'- TCCTGAAAACATGCTCGGGAAG -3'
(R):5'- GCCAGACTCCCCGAGGG -3'
Posted On 2016-10-26