Incidental Mutation 'IGL02949:Scyl2'
ID 364873
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scyl2
Ensembl Gene ENSMUSG00000069539
Gene Name SCY1-like 2 (S. cerevisiae)
Synonyms D10Ertd802e, CVAK104
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # IGL02949
Quality Score
Status
Chromosome 10
Chromosomal Location 89474583-89522147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89496163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 229 (N229I)
Ref Sequence ENSEMBL: ENSMUSP00000133992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092227] [ENSMUST00000174252] [ENSMUST00000174492]
AlphaFold Q8CFE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000092227
AA Change: N229I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: N229I

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 32 324 9.7e-15 PFAM
Pfam:Pkinase 32 327 4.6e-24 PFAM
low complexity region 356 369 N/A INTRINSIC
low complexity region 679 704 N/A INTRINSIC
low complexity region 896 921 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174252
AA Change: N229I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: N229I

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 32 324 6.4e-15 PFAM
Pfam:Pkinase 32 327 2.9e-26 PFAM
low complexity region 356 369 N/A INTRINSIC
low complexity region 680 705 N/A INTRINSIC
low complexity region 897 922 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174492
SMART Domains Protein: ENSMUSP00000134366
Gene: ENSMUSG00000069539

DomainStartEndE-ValueType
SCOP:d1b3ua_ 66 259 1e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, absent gastric milk in neonates, postnatal growth retardation, sensory-motor deficits and limb grapsing. Mice homozygous for a conditional allele exhibit similar phenotypes with near complete loss of CA3 neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,344,490 (GRCm39) V89I probably damaging Het
Abhd5 T C 9: 122,206,980 (GRCm39) F89L possibly damaging Het
Akr1c13 T A 13: 4,248,593 (GRCm39) V266E probably damaging Het
B4galt2 C T 4: 117,738,602 (GRCm39) A72T probably benign Het
Ccdc141 T C 2: 76,857,938 (GRCm39) Y1081C probably damaging Het
Coq8b T C 7: 26,956,038 (GRCm39) V405A possibly damaging Het
Ddah2 A G 17: 35,280,776 (GRCm39) K251E probably damaging Het
Dnah5 T C 15: 28,272,331 (GRCm39) V1045A probably benign Het
Dpy19l1 A T 9: 24,332,476 (GRCm39) M662K probably benign Het
Dpys A G 15: 39,690,279 (GRCm39) V358A probably damaging Het
H2-D1 A G 17: 35,483,064 (GRCm39) N198S probably benign Het
Hnrnpa1 T C 15: 103,150,538 (GRCm39) V163A probably damaging Het
Hr C T 14: 70,797,225 (GRCm39) R543C possibly damaging Het
Lct C T 1: 128,240,869 (GRCm39) V245M probably benign Het
Lpl G A 8: 69,345,400 (GRCm39) V135M probably damaging Het
Mblac1 T A 5: 138,193,119 (GRCm39) C154S probably benign Het
Mmp9 T C 2: 164,793,039 (GRCm39) F396S probably damaging Het
Mroh1 A T 15: 76,293,168 (GRCm39) H314L probably damaging Het
Msantd4 T A 9: 4,385,196 (GRCm39) L307Q probably damaging Het
Nol8 A G 13: 49,815,878 (GRCm39) D662G probably benign Het
Nynrin G A 14: 56,109,837 (GRCm39) S1648N probably damaging Het
Or52a20 A G 7: 103,366,427 (GRCm39) I209V probably benign Het
Plcb2 C T 2: 118,549,590 (GRCm39) probably null Het
Spryd3 C T 15: 102,026,544 (GRCm39) E376K probably benign Het
Srr T G 11: 74,799,563 (GRCm39) E304A probably benign Het
Srsf1 A G 11: 87,940,352 (GRCm39) probably benign Het
Txnrd2 T G 16: 18,296,456 (GRCm39) S473A probably benign Het
Wdr18 T A 10: 79,800,889 (GRCm39) C151S probably benign Het
Zfp282 C T 6: 47,874,848 (GRCm39) T351I probably damaging Het
Other mutations in Scyl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Scyl2 APN 10 89,493,671 (GRCm39) critical splice donor site probably null
IGL01141:Scyl2 APN 10 89,476,497 (GRCm39) missense probably benign
IGL01597:Scyl2 APN 10 89,488,849 (GRCm39) missense probably damaging 0.99
IGL01713:Scyl2 APN 10 89,490,087 (GRCm39) missense probably damaging 1.00
IGL02349:Scyl2 APN 10 89,493,800 (GRCm39) splice site probably benign
IGL02466:Scyl2 APN 10 89,488,871 (GRCm39) nonsense probably null
IGL02511:Scyl2 APN 10 89,476,681 (GRCm39) missense probably benign
IGL03087:Scyl2 APN 10 89,488,830 (GRCm39) missense possibly damaging 0.93
IGL03117:Scyl2 APN 10 89,493,729 (GRCm39) missense possibly damaging 0.95
IGL03228:Scyl2 APN 10 89,485,942 (GRCm39) missense probably damaging 1.00
R0019:Scyl2 UTSW 10 89,495,183 (GRCm39) missense probably benign 0.44
R0827:Scyl2 UTSW 10 89,493,727 (GRCm39) missense possibly damaging 0.91
R1394:Scyl2 UTSW 10 89,476,827 (GRCm39) missense possibly damaging 0.59
R1460:Scyl2 UTSW 10 89,493,751 (GRCm39) missense possibly damaging 0.90
R1572:Scyl2 UTSW 10 89,486,818 (GRCm39) missense probably damaging 1.00
R1624:Scyl2 UTSW 10 89,476,598 (GRCm39) missense probably benign 0.19
R1909:Scyl2 UTSW 10 89,476,767 (GRCm39) missense probably benign 0.01
R3846:Scyl2 UTSW 10 89,476,403 (GRCm39) missense probably damaging 1.00
R4041:Scyl2 UTSW 10 89,485,914 (GRCm39) missense probably damaging 1.00
R4077:Scyl2 UTSW 10 89,476,458 (GRCm39) missense probably benign 0.01
R4079:Scyl2 UTSW 10 89,476,458 (GRCm39) missense probably benign 0.01
R4765:Scyl2 UTSW 10 89,495,160 (GRCm39) missense probably damaging 0.97
R4855:Scyl2 UTSW 10 89,476,325 (GRCm39) utr 3 prime probably benign
R5308:Scyl2 UTSW 10 89,477,869 (GRCm39) missense probably benign 0.01
R5894:Scyl2 UTSW 10 89,476,681 (GRCm39) missense probably benign
R5901:Scyl2 UTSW 10 89,496,124 (GRCm39) missense probably benign 0.03
R6048:Scyl2 UTSW 10 89,481,348 (GRCm39) missense probably benign 0.33
R6249:Scyl2 UTSW 10 89,493,719 (GRCm39) missense possibly damaging 0.93
R6658:Scyl2 UTSW 10 89,476,835 (GRCm39) missense probably benign 0.01
R6827:Scyl2 UTSW 10 89,505,666 (GRCm39) critical splice acceptor site probably null
R6909:Scyl2 UTSW 10 89,481,604 (GRCm39) missense probably benign 0.28
R7027:Scyl2 UTSW 10 89,481,323 (GRCm39) critical splice donor site probably null
R7095:Scyl2 UTSW 10 89,505,549 (GRCm39) missense probably damaging 1.00
R8062:Scyl2 UTSW 10 89,490,022 (GRCm39) missense probably damaging 0.97
R8095:Scyl2 UTSW 10 89,476,965 (GRCm39) missense probably damaging 1.00
R8197:Scyl2 UTSW 10 89,498,228 (GRCm39) missense probably benign 0.33
R8232:Scyl2 UTSW 10 89,498,309 (GRCm39) missense probably damaging 1.00
R8241:Scyl2 UTSW 10 89,489,971 (GRCm39) missense possibly damaging 0.80
R8263:Scyl2 UTSW 10 89,476,525 (GRCm39) missense possibly damaging 0.50
R9020:Scyl2 UTSW 10 89,488,858 (GRCm39) missense probably damaging 1.00
R9748:Scyl2 UTSW 10 89,476,794 (GRCm39) missense probably benign 0.11
Z1177:Scyl2 UTSW 10 89,505,577 (GRCm39) frame shift probably null
Posted On 2015-12-18