Incidental Mutation 'R0568:Cnpy4'
ID 46259
Institutional Source Beutler Lab
Gene Symbol Cnpy4
Ensembl Gene ENSMUSG00000036968
Gene Name canopy FGF signaling regulator 4
Synonyms 2610019P18Rik
MMRRC Submission 038759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R0568 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 138185768-138192180 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138190839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 167 (E167G)
Ref Sequence ENSEMBL: ENSMUSP00000106559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057773] [ENSMUST00000110932] [ENSMUST00000110934]
AlphaFold Q8BQ47
Predicted Effect probably benign
Transcript: ENSMUST00000057773
SMART Domains Protein: ENSMUSP00000052869
Gene: ENSMUSG00000049285

DomainStartEndE-ValueType
Lactamase_B 70 235 4.04e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110932
AA Change: E154G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106557
Gene: ENSMUSG00000036968
AA Change: E154G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:DUF3456 32 160 9.5e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110934
AA Change: E167G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106559
Gene: ENSMUSG00000036968
AA Change: E167G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:DUF3456 43 202 3.4e-51 PFAM
low complexity region 218 230 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130126
Meta Mutation Damage Score 0.5489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 G A 4: 49,451,003 (GRCm39) T36I possibly damaging Het
Adamts20 T C 15: 94,189,594 (GRCm39) probably benign Het
Adamtsl1 T C 4: 86,336,789 (GRCm39) L1558S probably damaging Het
Ap3b2 A G 7: 81,114,377 (GRCm39) probably null Het
Bag2 T C 1: 33,786,059 (GRCm39) M88V probably benign Het
Brms1l A G 12: 55,908,173 (GRCm39) probably null Het
C8b A G 4: 104,650,577 (GRCm39) I462V probably benign Het
Cfap410 C T 10: 77,818,872 (GRCm39) T181I possibly damaging Het
Cfap410 A T 10: 77,820,381 (GRCm39) *250C probably null Het
Copa T C 1: 171,939,704 (GRCm39) V624A possibly damaging Het
Gm4553 G T 7: 141,719,357 (GRCm39) P24T unknown Het
Gna12 A G 5: 140,746,638 (GRCm39) V269A possibly damaging Het
Gtf2ird2 G T 5: 134,240,083 (GRCm39) E302* probably null Het
Hmcn2 C A 2: 31,305,248 (GRCm39) S3140R probably benign Het
Hspa4 A G 11: 53,153,703 (GRCm39) probably benign Het
Hspbp1 A T 7: 4,687,431 (GRCm39) L60* probably null Het
Lats1 A T 10: 7,588,292 (GRCm39) I970F possibly damaging Het
Lipo3 T C 19: 33,559,442 (GRCm39) probably benign Het
Lrrc3 T A 10: 77,737,419 (GRCm39) R6W probably damaging Het
Lxn C T 3: 67,368,335 (GRCm39) A143T probably damaging Het
Mga T C 2: 119,765,903 (GRCm39) I1390T probably damaging Het
Ncapg2 T A 12: 116,386,835 (GRCm39) I286N probably damaging Het
Or4c107 T A 2: 88,789,387 (GRCm39) Y192* probably null Het
Pitpnm2 A G 5: 124,278,580 (GRCm39) probably benign Het
Plxna2 T C 1: 194,433,694 (GRCm39) V581A probably benign Het
Polr3d A T 14: 70,676,959 (GRCm39) H378Q possibly damaging Het
Ptpn13 T C 5: 103,637,631 (GRCm39) V173A probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Smc4 T C 3: 68,929,794 (GRCm39) probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syngr3 C T 17: 24,905,555 (GRCm39) A140T probably benign Het
Tent2 A G 13: 93,291,500 (GRCm39) S381P probably benign Het
Tprn T C 2: 25,154,333 (GRCm39) V545A probably damaging Het
Trim66 T C 7: 109,059,902 (GRCm39) H828R probably benign Het
Ugt2b5 G A 5: 87,285,224 (GRCm39) probably benign Het
Vps9d1 A G 8: 123,973,487 (GRCm39) V432A probably damaging Het
Zswim9 A T 7: 12,994,952 (GRCm39) D401E probably damaging Het
Other mutations in Cnpy4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02247:Cnpy4 APN 5 138,191,125 (GRCm39) missense probably benign 0.00
R0317:Cnpy4 UTSW 5 138,191,074 (GRCm39) nonsense probably null
R0525:Cnpy4 UTSW 5 138,190,878 (GRCm39) missense probably benign 0.45
R0549:Cnpy4 UTSW 5 138,185,899 (GRCm39) missense possibly damaging 0.63
R1889:Cnpy4 UTSW 5 138,191,102 (GRCm39) missense probably benign 0.06
R2285:Cnpy4 UTSW 5 138,191,087 (GRCm39) splice site probably null
R4272:Cnpy4 UTSW 5 138,190,853 (GRCm39) missense probably damaging 0.98
R6682:Cnpy4 UTSW 5 138,185,984 (GRCm39) critical splice donor site probably null
R7283:Cnpy4 UTSW 5 138,191,144 (GRCm39) missense probably benign 0.00
R7787:Cnpy4 UTSW 5 138,190,900 (GRCm39) missense probably benign
R8087:Cnpy4 UTSW 5 138,188,532 (GRCm39) missense probably damaging 1.00
X0065:Cnpy4 UTSW 5 138,190,854 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ACCAATGCATACTAATGTGCCTGCC -3'
(R):5'- TCCAAGCTTCCCGTAGACAAGCTG -3'

Sequencing Primer
(F):5'- gcctttcttgccgctacc -3'
(R):5'- CCGTAGACAAGCTGGGTGG -3'
Posted On 2013-06-11