Incidental Mutation 'R8416:Cnpy1'
ID 652938
Institutional Source Beutler Lab
Gene Symbol Cnpy1
Ensembl Gene ENSMUSG00000044681
Gene Name canopy FGF signaling regulator 1
Synonyms 9630008K15Rik, 1500012D20Rik
MMRRC Submission 067770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8416 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 28405817-28450786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28408423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 138 (T138A)
Ref Sequence ENSEMBL: ENSMUSP00000122171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117098] [ENSMUST00000118882] [ENSMUST00000120068] [ENSMUST00000141601]
AlphaFold Q4VAB4
Predicted Effect probably benign
Transcript: ENSMUST00000117098
SMART Domains Protein: ENSMUSP00000113956
Gene: ENSMUSG00000044681

DomainStartEndE-ValueType
Pfam:DUF3456 1 85 4.3e-12 PFAM
transmembrane domain 142 164 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118882
AA Change: T87A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113944
Gene: ENSMUSG00000044681
AA Change: T87A

DomainStartEndE-ValueType
Pfam:DUF3456 1 86 7.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120068
SMART Domains Protein: ENSMUSP00000112773
Gene: ENSMUSG00000044681

DomainStartEndE-ValueType
Pfam:DUF3456 1 86 7.1e-13 PFAM
transmembrane domain 142 164 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141601
AA Change: T138A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122171
Gene: ENSMUSG00000044681
AA Change: T138A

DomainStartEndE-ValueType
Pfam:DUF3456 1 86 7.8e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,369,023 (GRCm39) N173S probably benign Het
Agps A G 2: 75,684,547 (GRCm39) I172V probably benign Het
Amz1 G A 5: 140,737,731 (GRCm39) W330* probably null Het
Asap1 A T 15: 64,002,072 (GRCm39) M413K possibly damaging Het
Bhmt1b T C 18: 87,774,687 (GRCm39) V70A probably damaging Het
Ccdc83 A T 7: 89,885,513 (GRCm39) W291R unknown Het
Cdh19 A T 1: 110,853,610 (GRCm39) M277K probably benign Het
Clca3a1 C A 3: 144,460,914 (GRCm39) probably null Het
Csnka2ip T C 16: 64,300,295 (GRCm39) D23G Het
Cxcr5 A T 9: 44,425,583 (GRCm39) F25I probably benign Het
Defb33 T A 8: 21,387,651 (GRCm39) *63R probably null Het
Dgkz A T 2: 91,770,649 (GRCm39) S485T possibly damaging Het
Elac1 A G 18: 73,871,927 (GRCm39) I356T probably damaging Het
Fam135a C T 1: 24,067,675 (GRCm39) D1065N probably benign Het
Fbxo10 T A 4: 45,058,942 (GRCm39) D265V possibly damaging Het
Flrt2 A G 12: 95,746,331 (GRCm39) E223G probably benign Het
Gjc2 A T 11: 59,068,334 (GRCm39) D49E probably damaging Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Irf2 A T 8: 47,271,887 (GRCm39) Y158F probably benign Het
Jmy T C 13: 93,634,949 (GRCm39) D289G probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Limch1 T G 5: 67,156,649 (GRCm39) I372S probably benign Het
Lsm11 A T 11: 45,824,730 (GRCm39) W266R probably benign Het
Mboat2 G A 12: 24,984,609 (GRCm39) E147K probably damaging Het
Mctp2 T C 7: 71,852,210 (GRCm39) I439V probably benign Het
Npc2 A G 12: 84,812,131 (GRCm39) V37A probably damaging Het
Or2t29 A T 11: 58,433,778 (GRCm39) S188T possibly damaging Het
Or5b119 A T 19: 13,456,764 (GRCm39) M266K possibly damaging Het
Parp4 T C 14: 56,825,271 (GRCm39) probably null Het
Pcdhga2 A T 18: 37,803,178 (GRCm39) N341Y probably damaging Het
Pde1b G A 15: 103,423,745 (GRCm39) probably benign Het
Pde1c C T 6: 56,128,276 (GRCm39) probably null Het
Plce1 G A 19: 38,761,441 (GRCm39) V2098I possibly damaging Het
Pou2f2 G T 7: 24,815,551 (GRCm39) S72* probably null Het
Ptpru C T 4: 131,535,783 (GRCm39) R398H probably damaging Het
Rps15 A G 10: 80,128,624 (GRCm39) K7E probably benign Het
Rtn4rl2 C T 2: 84,702,951 (GRCm39) G207D probably damaging Het
Scn2a A C 2: 65,511,345 (GRCm39) L130F probably benign Het
Sh3tc1 G A 5: 35,868,256 (GRCm39) R403W probably damaging Het
Slc7a9 A G 7: 35,152,858 (GRCm39) K92R probably benign Het
Slit3 A T 11: 35,399,062 (GRCm39) E142D probably benign Het
Srpk1 A G 17: 28,813,229 (GRCm39) I505T probably damaging Het
Sult1c2 A T 17: 54,269,580 (GRCm39) I216K probably benign Het
Susd6 T A 12: 80,897,997 (GRCm39) M44K probably benign Het
Thoc5 T A 11: 4,876,068 (GRCm39) V607E probably benign Het
Tiparp A G 3: 65,438,767 (GRCm39) R28G probably benign Het
Tln1 C T 4: 43,540,116 (GRCm39) V1498I probably benign Het
Tmprss11c T G 5: 86,387,276 (GRCm39) Q214P probably damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Wdr11 G A 7: 129,232,403 (GRCm39) S937N possibly damaging Het
Zdhhc23 A T 16: 43,791,927 (GRCm39) I282K probably damaging Het
Zfp488 A G 14: 33,693,052 (GRCm39) M37T probably benign Het
Zmpste24 T C 4: 120,940,556 (GRCm39) S142G probably benign Het
Other mutations in Cnpy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Cnpy1 APN 5 28,414,152 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GAGAAGACTTGGGGTTTGTCAC -3'
(R):5'- TGGCCCATGAATCTTTCTGG -3'

Sequencing Primer
(F):5'- TTTGTCACGATGCCAAGCAAG -3'
(R):5'- GGCCCATGAATCTTTCTGGAAACTG -3'
Posted On 2020-10-20