Incidental Mutation 'R6658:Scyl2'
ID 526729
Institutional Source Beutler Lab
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 # R6658 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 89474583-89522147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89476835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 763 (D763E)
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: D762E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: D762E

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: D763E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: D763E

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,077,353 (GRCm39) N1340S probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Antxr1 C A 6: 87,261,291 (GRCm39) R167L probably damaging Het
BC107364 T C 3: 96,348,026 (GRCm39) S88G unknown Het
Cfap100 T G 6: 90,390,400 (GRCm39) E80A probably damaging Het
Dhx8 C A 11: 101,655,748 (GRCm39) H1107Q probably damaging Het
Dip2c G A 13: 9,543,213 (GRCm39) probably null Het
Dpep2 A T 8: 106,716,542 (GRCm39) D212E probably benign Het
Dpep3 T C 8: 106,705,728 (GRCm39) T66A probably benign Het
Fat4 G T 3: 38,997,077 (GRCm39) M1765I probably benign Het
Gbgt1 G A 2: 28,394,998 (GRCm39) R212H probably benign Het
Gimap4 T C 6: 48,668,338 (GRCm39) S215P possibly damaging Het
Gpr161 A T 1: 165,134,136 (GRCm39) T133S possibly damaging Het
Grin2c G T 11: 115,149,108 (GRCm39) S163R possibly damaging Het
Grip2 T A 6: 91,763,472 (GRCm39) N109Y probably damaging Het
H60c G A 10: 3,210,270 (GRCm39) T93I possibly damaging Het
Hmgcl A G 4: 135,682,962 (GRCm39) N138S probably damaging Het
Hoxa3 G T 6: 52,147,058 (GRCm39) Y398* probably null Het
Igkv1-132 A G 6: 67,737,091 (GRCm39) N19S probably benign Het
Ikbip A G 10: 90,932,181 (GRCm39) N275S probably benign Het
Il7 T A 3: 7,642,239 (GRCm39) T33S probably benign Het
Iqgap2 A T 13: 95,796,840 (GRCm39) Y1105N probably damaging Het
Lmo7 A G 14: 102,148,281 (GRCm39) D934G possibly damaging Het
Mroh4 T C 15: 74,492,978 (GRCm39) Q310R possibly damaging Het
Mtmr14 C A 6: 113,242,437 (GRCm39) Y22* probably null Het
Muc5b G T 7: 141,422,244 (GRCm39) probably null Het
Naga T G 15: 82,214,975 (GRCm39) K328Q probably benign Het
Neo1 G A 9: 58,829,132 (GRCm39) T589I probably benign Het
Nme5 A C 18: 34,711,639 (GRCm39) I34S probably damaging Het
Nrip2 T C 6: 128,385,199 (GRCm39) L210P possibly damaging Het
Nup93 A G 8: 95,030,807 (GRCm39) D424G probably benign Het
Or12e9 T C 2: 87,202,497 (GRCm39) V207A probably benign Het
Or1e26 G A 11: 73,479,874 (GRCm39) S230F probably damaging Het
Papss1 T A 3: 131,311,696 (GRCm39) V308E probably benign Het
Pilrb1 T A 5: 137,855,789 (GRCm39) Y34F probably benign Het
Pira2 T A 7: 3,845,300 (GRCm39) E319D probably benign Het
Pkhd1 G A 1: 20,682,929 (GRCm39) T91M probably damaging Het
Prph2 A G 17: 47,230,790 (GRCm39) T228A probably benign Het
Ranbp17 G T 11: 33,169,214 (GRCm39) S1000* probably null Het
Rbm27 A C 18: 42,457,178 (GRCm39) H651P probably damaging Het
Sltm A G 9: 70,488,644 (GRCm39) Y598C probably damaging Het
Smc2 A T 4: 52,451,322 (GRCm39) K322I probably benign Het
Tcf4 G A 18: 69,790,873 (GRCm39) R271Q probably null Het
Tex36 C T 7: 133,196,140 (GRCm39) D87N probably damaging Het
Tex44 A C 1: 86,354,751 (GRCm39) H220P probably benign Het
Tjp1 T C 7: 64,950,825 (GRCm39) D1683G possibly damaging Het
Trav7-2 T C 14: 53,628,573 (GRCm39) S104P probably damaging Het
Trim55 C T 3: 19,745,719 (GRCm39) R532C probably damaging Het
Ube3c T A 5: 29,807,215 (GRCm39) L338Q probably damaging Het
Ush2a A G 1: 188,546,556 (GRCm39) H3444R possibly damaging Het
Vars1 A G 17: 35,234,717 (GRCm39) D1182G probably benign Het
Vit T A 17: 78,930,232 (GRCm39) I399N possibly damaging Het
Vmn1r16 A T 6: 57,300,091 (GRCm39) L177* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CTTCACGCTAGCAGGAGGAATAG -3'
(R):5'- CTTTATCGTGTGACCTGTCAGG -3'

Sequencing Primer
(F):5'- ATAGTCAAAGGGCTAAAGTTTGAC -3'
(R):5'- CTGTCAGGTAGTTACTAATTGGAAAG -3'
Posted On 2018-07-23