Incidental Mutation 'IGL02511:Scyl2'
ID 296550
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 # IGL02511
Quality Score
Status
Chromosome 10
Chromosomal Location 89474583-89522147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89476681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 815 (S815P)
Ref Sequence ENSEMBL: ENSMUSP00000133992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092227] [ENSMUST00000174252]
AlphaFold Q8CFE4
Predicted Effect probably benign
Transcript: ENSMUST00000092227
AA Change: S814P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: S814P

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 noncoding transcript
Transcript: ENSMUST00000105294
Predicted Effect probably benign
Transcript: ENSMUST00000174252
AA Change: S815P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: S815P

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,692,111 (GRCm39) probably benign Het
Adam3 T A 8: 25,185,192 (GRCm39) D502V probably damaging Het
Adss2 T C 1: 177,598,700 (GRCm39) probably benign Het
Ankrd36 T A 11: 5,610,845 (GRCm39) probably null Het
Atf6b T C 17: 34,873,615 (GRCm39) S692P probably benign Het
Cap2 T C 13: 46,684,498 (GRCm39) M1T probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn1 A T 15: 92,114,266 (GRCm39) probably benign Het
Copg2 A T 6: 30,835,757 (GRCm39) F218Y probably benign Het
Dll4 G A 2: 119,156,947 (GRCm39) G73E probably damaging Het
Dzip3 T C 16: 48,757,343 (GRCm39) M897V possibly damaging Het
Ehbp1 T C 11: 22,039,653 (GRCm39) R816G probably damaging Het
Enoph1 T C 5: 100,208,894 (GRCm39) L83P probably benign Het
Enpep A G 3: 129,115,059 (GRCm39) S238P probably damaging Het
Fermt1 A C 2: 132,775,086 (GRCm39) probably benign Het
Gm6619 T A 6: 131,467,330 (GRCm39) I65K possibly damaging Het
Krtap31-2 T A 11: 99,827,518 (GRCm39) C117S possibly damaging Het
Ksr1 T C 11: 78,936,046 (GRCm39) D106G possibly damaging Het
Lgr4 A T 2: 109,841,617 (GRCm39) Y534F probably benign Het
Mamdc2 T C 19: 23,356,095 (GRCm39) T118A probably benign Het
Myo10 T A 15: 25,723,975 (GRCm39) I170N probably damaging Het
Myom2 T C 8: 15,115,743 (GRCm39) S53P probably benign Het
Npl T A 1: 153,391,227 (GRCm39) D176V probably damaging Het
Nrm T C 17: 36,172,316 (GRCm39) S14P probably damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5p70 T A 7: 107,995,265 (GRCm39) F313I probably benign Het
Or5v1b A G 17: 37,840,870 (GRCm39) M1V probably null Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Pard3 A T 8: 127,888,070 (GRCm39) probably benign Het
Pdzd4 T A X: 72,838,206 (GRCm39) M701L probably damaging Het
Pkhd1 A T 1: 20,143,731 (GRCm39) V3865E possibly damaging Het
Plxna3 C A X: 73,378,991 (GRCm39) Q712K probably damaging Het
Pon1 A G 6: 5,193,724 (GRCm39) L9P probably damaging Het
Pygm A T 19: 6,435,718 (GRCm39) I83F probably benign Het
Serpina1a C T 12: 103,822,226 (GRCm39) W212* probably null Het
Slc38a9 C A 13: 112,834,541 (GRCm39) D239E possibly damaging Het
Smad6 A G 9: 63,860,859 (GRCm39) F479L probably damaging Het
Smarcc2 T C 10: 128,297,251 (GRCm39) S48P probably damaging Het
Ttn T A 2: 76,768,034 (GRCm39) M3022L unknown Het
Tulp1 C A 17: 28,575,142 (GRCm39) R441L probably benign Het
Ugt1a10 T C 1: 87,983,585 (GRCm39) F128L probably damaging Het
Ulk4 A G 9: 121,017,420 (GRCm39) V686A probably damaging Het
Ush2a T C 1: 188,475,884 (GRCm39) probably null Het
Ushbp1 T C 8: 71,843,581 (GRCm39) M286V probably null Het
Usp51 T G X: 151,791,726 (GRCm39) I440R probably damaging Het
Wee1 G T 7: 109,738,483 (GRCm39) R532L possibly damaging Het
Zfhx4 A G 3: 5,464,243 (GRCm39) E1467G probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp551 A G 7: 12,150,602 (GRCm39) V269A possibly 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
IGL02949:Scyl2 APN 10 89,496,163 (GRCm39) missense possibly damaging 0.82
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 2015-04-16