Incidental Mutation 'IGL00985:Cnpy1'
ID 27550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnpy1
Ensembl Gene ENSMUSG00000044681
Gene Name canopy FGF signaling regulator 1
Synonyms 9630008K15Rik, 1500012D20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00985
Quality Score
Status
Chromosome 5
Chromosomal Location 28405817-28450786 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 28414152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 91 (Y91*)
Ref Sequence ENSEMBL: ENSMUSP00000122171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117098] [ENSMUST00000118882] [ENSMUST00000120068] [ENSMUST00000141196] [ENSMUST00000141601]
AlphaFold Q4VAB4
Predicted Effect probably null
Transcript: ENSMUST00000117098
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000113956
Gene: ENSMUSG00000044681
AA Change: Y40*

DomainStartEndE-ValueType
Pfam:DUF3456 1 85 4.3e-12 PFAM
transmembrane domain 142 164 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118882
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000113944
Gene: ENSMUSG00000044681
AA Change: Y40*

DomainStartEndE-ValueType
Pfam:DUF3456 1 86 7.8e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120068
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000112773
Gene: ENSMUSG00000044681
AA Change: Y40*

DomainStartEndE-ValueType
Pfam:DUF3456 1 86 7.1e-13 PFAM
transmembrane domain 142 164 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141196
Predicted Effect probably null
Transcript: ENSMUST00000141601
AA Change: Y91*
SMART Domains Protein: ENSMUSP00000122171
Gene: ENSMUSG00000044681
AA Change: Y91*

DomainStartEndE-ValueType
Pfam:DUF3456 1 86 7.8e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G T 7: 98,193,125 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,996,241 (GRCm39) G1389E probably damaging Het
Adcy3 T C 12: 4,184,600 (GRCm39) V92A probably damaging Het
Aoc1l1 A G 6: 48,954,481 (GRCm39) S540G probably benign Het
Aplnr A T 2: 84,968,007 (GRCm39) Y344F probably benign Het
Atm A T 9: 53,371,116 (GRCm39) V2241E probably damaging Het
Cep290 T C 10: 100,403,023 (GRCm39) probably benign Het
Cobl C A 11: 12,204,843 (GRCm39) G613W probably damaging Het
Csn1s2a T C 5: 87,932,439 (GRCm39) S121P possibly damaging Het
Flg2 A T 3: 93,110,585 (GRCm39) Y871F unknown Het
Gapvd1 T A 2: 34,585,575 (GRCm39) D1008V probably damaging Het
Gask1a T C 9: 121,807,401 (GRCm39) L515P probably damaging Het
Igfl3 T C 7: 17,914,000 (GRCm39) probably null Het
Kmt2b A T 7: 30,279,352 (GRCm39) V1470E probably damaging Het
Mcc A T 18: 44,624,306 (GRCm39) L413Q probably damaging Het
Mia2 G A 12: 59,235,146 (GRCm39) G610D probably damaging Het
Mlst8 A T 17: 24,696,287 (GRCm39) D147E probably damaging Het
Muc19 G T 15: 91,770,943 (GRCm39) noncoding transcript Het
Mybpc3 A G 2: 90,965,704 (GRCm39) E1172G probably benign Het
Niban3 T C 8: 72,057,507 (GRCm39) probably benign Het
Nop14 A T 5: 34,802,133 (GRCm39) L557Q probably damaging Het
P3h3 T C 6: 124,822,552 (GRCm39) T540A probably benign Het
Phc3 T A 3: 30,968,346 (GRCm39) I897F probably benign Het
Plekhh2 G A 17: 84,871,356 (GRCm39) V205I probably benign Het
Poc5 A G 13: 96,547,254 (GRCm39) K506E probably damaging Het
Pum1 C A 4: 130,471,100 (GRCm39) T450K probably damaging Het
Retnlg G A 16: 48,694,688 (GRCm39) R112H possibly damaging Het
Rgl2 T C 17: 34,151,075 (GRCm39) V101A probably damaging Het
Serinc5 A G 13: 92,842,779 (GRCm39) T410A probably damaging Het
Shroom1 T C 11: 53,356,796 (GRCm39) V553A probably benign Het
Slco4c1 A T 1: 96,768,912 (GRCm39) W317R probably damaging Het
Snap91 T C 9: 86,703,790 (GRCm39) T268A probably benign Het
Supt16 T C 14: 52,399,148 (GRCm39) K1044E possibly damaging Het
Tarbp1 A T 8: 127,185,900 (GRCm39) L431I probably damaging Het
Tas2r124 C T 6: 132,732,492 (GRCm39) T267I probably benign Het
Tm7sf3 C T 6: 146,507,692 (GRCm39) V457I possibly damaging Het
Tmem132c A T 5: 127,581,930 (GRCm39) S382C probably damaging Het
Tmprss7 C A 16: 45,482,685 (GRCm39) C582F probably damaging Het
Tsc2 T C 17: 24,816,105 (GRCm39) E1694G probably damaging Het
Txndc2 G T 17: 65,945,544 (GRCm39) S211Y possibly damaging Het
Ubr3 A C 2: 69,833,775 (GRCm39) T205P probably damaging Het
Vmn2r116 G A 17: 23,620,489 (GRCm39) G741D probably damaging Het
Vps8 G A 16: 21,296,334 (GRCm39) probably benign Het
Wdr19 G A 5: 65,409,642 (GRCm39) D1127N probably benign Het
Zim1 T A 7: 6,685,759 (GRCm39) Y83F possibly damaging Het
Other mutations in Cnpy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02933:Cnpy1 APN 5 28,412,119 (GRCm39) missense probably benign
R3508:Cnpy1 UTSW 5 28,412,365 (GRCm39) missense probably damaging 1.00
R4851:Cnpy1 UTSW 5 28,450,738 (GRCm39) missense probably benign 0.06
R6003:Cnpy1 UTSW 5 28,450,759 (GRCm39) missense probably benign 0.01
R7649:Cnpy1 UTSW 5 28,412,282 (GRCm39) missense probably benign 0.44
R8412:Cnpy1 UTSW 5 28,414,206 (GRCm39) nonsense probably null
R8416:Cnpy1 UTSW 5 28,408,423 (GRCm39) missense probably benign
R9182:Cnpy1 UTSW 5 28,450,799 (GRCm39) missense possibly damaging 0.92
R9746:Cnpy1 UTSW 5 28,450,800 (GRCm39) missense probably damaging 1.00
Z1177:Cnpy1 UTSW 5 28,412,207 (GRCm39) missense possibly damaging 0.62
Posted On 2013-04-17