Incidental Mutation 'R8197:Scyl2'
ID 635502
Institutional Source Beutler Lab
Gene Symbol Scyl2
Ensembl Gene ENSMUSG00000069539
Gene Name SCY1-like 2 (S. cerevisiae)
Synonyms D10Ertd802e, CVAK104
MMRRC Submission 067620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R8197 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 89474583-89522147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89498228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 194 (I194V)
Ref Sequence ENSEMBL: ENSMUSP00000133992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092227] [ENSMUST00000174252] [ENSMUST00000174492]
AlphaFold Q8CFE4
Predicted Effect probably benign
Transcript: ENSMUST00000092227
AA Change: I194V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: I194V

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 probably benign
Transcript: ENSMUST00000174252
AA Change: I194V

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: I194V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 96% (46/48)
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
Aars1 T A 8: 111,780,628 (GRCm39) D836E probably benign Het
Abca6 A C 11: 110,102,641 (GRCm39) L861R probably damaging Het
Adamts18 G T 8: 114,481,227 (GRCm39) A560E probably damaging Het
Adra2b A T 2: 127,206,578 (GRCm39) Q365L possibly damaging Het
Anxa3 A G 5: 96,982,651 (GRCm39) T250A probably benign Het
B4galt5 T A 2: 167,144,023 (GRCm39) N309I probably benign Het
Bub1 G T 2: 127,643,177 (GRCm39) R1056S probably damaging Het
Ccdc185 G T 1: 182,576,324 (GRCm39) P122T possibly damaging Het
Cdk5rap3 A G 11: 96,806,975 (GRCm39) probably null Het
Cntnap4 T A 8: 113,296,857 (GRCm39) Y31N probably benign Het
Crygc T C 1: 65,112,365 (GRCm39) M70V probably benign Het
Dnah14 A G 1: 181,517,666 (GRCm39) E2000G possibly damaging Het
Dpp4 T C 2: 62,203,171 (GRCm39) N266S probably benign Het
Edrf1 T A 7: 133,249,088 (GRCm39) D304E probably benign Het
Fabp9 T G 3: 10,259,887 (GRCm39) K42T probably benign Het
Fhl4 T A 10: 84,934,101 (GRCm39) I227F probably damaging Het
Gm13941 T C 2: 110,926,921 (GRCm39) probably null Het
Gsdmd T C 15: 75,736,186 (GRCm39) I105T possibly damaging Het
Gys1 A G 7: 45,092,348 (GRCm39) D317G possibly damaging Het
Hrh4 A G 18: 13,154,986 (GRCm39) Y175C probably damaging Het
Igfals A G 17: 25,099,278 (GRCm39) N123S probably benign Het
Igkv5-37 A G 6: 69,940,841 (GRCm39) V2A possibly damaging Het
Iqsec3 A G 6: 121,389,971 (GRCm39) L500P unknown Het
Itgae G A 11: 73,011,210 (GRCm39) R660Q probably benign Het
Kcnip2 T C 19: 45,782,730 (GRCm39) I204V possibly damaging Het
Kndc1 A G 7: 139,493,447 (GRCm39) E471G probably damaging Het
Lrrtm3 T A 10: 63,924,295 (GRCm39) T291S possibly damaging Het
Mast1 T A 8: 85,639,450 (GRCm39) H1293L possibly damaging Het
Mrnip A G 11: 50,090,607 (GRCm39) E257G probably benign Het
Myo9b T C 8: 71,743,607 (GRCm39) Y223H probably damaging Het
Nab1 G A 1: 52,529,127 (GRCm39) R257* probably null Het
Ncapd3 C A 9: 26,997,329 (GRCm39) L1217I probably damaging Het
Or5h18 T A 16: 58,847,448 (GRCm39) D274V probably benign Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pde4d T A 13: 110,084,870 (GRCm39) I489N probably damaging Het
Pdyn C T 2: 129,530,277 (GRCm39) G131R probably benign Het
Qrich2 CACCTGCTTGCAACACACCAGGCTGAACTGGACCT CACCT 11: 116,347,861 (GRCm39) probably benign Het
Rps6ka1 T C 4: 133,592,673 (GRCm39) K276E possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Scube2 T A 7: 109,407,684 (GRCm39) N752I possibly damaging Het
Sec31b T G 19: 44,512,955 (GRCm39) R511S probably benign Het
Serpinb6d T C 13: 33,851,588 (GRCm39) F115S probably damaging Het
Skint6 T G 4: 112,752,040 (GRCm39) probably null Het
Supt16 G A 14: 52,411,542 (GRCm39) P614S possibly damaging Het
Tmem114 T C 16: 8,227,516 (GRCm39) I182M probably damaging Het
Vmn1r125 G A 7: 21,006,851 (GRCm39) V250I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp1005 A T 2: 150,109,577 (GRCm39) H89L possibly damaging Het
Zfp959 A T 17: 56,204,677 (GRCm39) D238V 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCATCACTGAGTCTCATGC -3'
(R):5'- TACAATTTCCCCACGAGTTTGATTG -3'

Sequencing Primer
(F):5'- ACTGAGTCTCATGCTTTACCATG -3'
(R):5'- CCACGAGTTTGATTGCTAGCTGAC -3'
Posted On 2020-07-13