Incidental Mutation 'IGL02185:Ulk2'
ID 283596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ulk2
Ensembl Gene ENSMUSG00000004798
Gene Name unc-51 like kinase 2
Synonyms A830085I22Rik, Unc51.2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # IGL02185
Quality Score
Status
Chromosome 11
Chromosomal Location 61666475-61745899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61672886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 903 (A903T)
Ref Sequence ENSEMBL: ENSMUSP00000004920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004920]
AlphaFold Q9QY01
Predicted Effect probably damaging
Transcript: ENSMUST00000004920
AA Change: A903T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004920
Gene: ENSMUSG00000004798
AA Change: A903T

DomainStartEndE-ValueType
S_TKc 9 271 1.1e-93 SMART
low complexity region 274 309 N/A INTRINSIC
Blast:S_TKc 310 413 9e-28 BLAST
Blast:S_TKc 433 738 1e-29 BLAST
low complexity region 751 766 N/A INTRINSIC
low complexity region 771 791 N/A INTRINSIC
Pfam:DUF3543 821 1032 1.8e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129025
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in an increased anxiety-like response in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh5 A G 3: 138,156,815 (GRCm39) D167G probably benign Het
C9orf72 A T 4: 35,197,046 (GRCm39) W340R probably damaging Het
Cand2 G A 6: 115,766,471 (GRCm39) A359T probably benign Het
Cnnm2 T C 19: 46,751,434 (GRCm39) V408A probably benign Het
Eloa A G 4: 135,740,290 (GRCm39) probably benign Het
Ern2 T C 7: 121,772,598 (GRCm39) probably benign Het
Hs6st3 A G 14: 120,106,296 (GRCm39) probably null Het
Hydin A T 8: 111,233,108 (GRCm39) I1736F possibly damaging Het
Ifrd2 A T 9: 107,468,290 (GRCm39) I253F probably benign Het
Kctd7 G A 5: 130,181,299 (GRCm39) V241I possibly damaging Het
Lcp1 T C 14: 75,466,740 (GRCm39) F616L possibly damaging Het
Lyst C T 13: 13,835,678 (GRCm39) Q1787* probably null Het
Mapkbp1 A T 2: 119,845,144 (GRCm39) T342S possibly damaging Het
Mcph1 A G 8: 18,719,006 (GRCm39) probably benign Het
Mctp2 T C 7: 71,730,571 (GRCm39) H868R probably benign Het
Mefv T C 16: 3,533,714 (GRCm39) T186A probably benign Het
Nol9 T A 4: 152,142,368 (GRCm39) I666N probably damaging Het
Or51t4 T A 7: 102,597,721 (GRCm39) N16K probably damaging Het
Or6c205 G T 10: 129,086,904 (GRCm39) C167F possibly damaging Het
Or8b8 A C 9: 37,809,531 (GRCm39) Y277S probably damaging Het
Pum2 T C 12: 8,798,955 (GRCm39) probably null Het
Rpgrip1 A C 14: 52,349,685 (GRCm39) K24N possibly damaging Het
Ryr3 T A 2: 112,797,548 (GRCm39) T122S probably damaging Het
Sfn A G 4: 133,328,636 (GRCm39) S149P probably benign Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 (GRCm39) V81A probably benign Het
Trav21-dv12 A T 14: 54,113,955 (GRCm39) D25V probably benign Het
Ttn T C 2: 76,598,878 (GRCm39) H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 (GRCm39) Y49N probably benign Het
Vmn2r77 G A 7: 86,444,360 (GRCm39) M4I unknown Het
Vmn2r85 G T 10: 130,254,561 (GRCm39) L708I probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vrk2 T A 11: 26,485,638 (GRCm39) R117* probably null Het
Xpo6 A T 7: 125,712,980 (GRCm39) probably benign Het
Zdhhc14 C A 17: 5,803,157 (GRCm39) T420K probably benign Het
Zfp334 G T 2: 165,228,869 (GRCm39) probably benign Het
Zfp958 T A 8: 4,678,990 (GRCm39) C338* probably null Het
Other mutations in Ulk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Ulk2 APN 11 61,682,262 (GRCm39) nonsense probably null
IGL02044:Ulk2 APN 11 61,672,465 (GRCm39) missense probably damaging 1.00
IGL03036:Ulk2 APN 11 61,725,660 (GRCm39) missense probably damaging 1.00
BB007:Ulk2 UTSW 11 61,682,258 (GRCm39) critical splice donor site probably null
BB009:Ulk2 UTSW 11 61,698,916 (GRCm39) missense probably benign
BB017:Ulk2 UTSW 11 61,682,258 (GRCm39) critical splice donor site probably null
BB019:Ulk2 UTSW 11 61,698,916 (GRCm39) missense probably benign
R0207:Ulk2 UTSW 11 61,668,611 (GRCm39) missense probably benign 0.42
R0362:Ulk2 UTSW 11 61,678,412 (GRCm39) missense probably benign
R0657:Ulk2 UTSW 11 61,698,880 (GRCm39) splice site probably benign
R1076:Ulk2 UTSW 11 61,710,135 (GRCm39) missense probably damaging 1.00
R1144:Ulk2 UTSW 11 61,690,886 (GRCm39) missense possibly damaging 0.80
R1573:Ulk2 UTSW 11 61,670,581 (GRCm39) missense probably damaging 1.00
R1583:Ulk2 UTSW 11 61,674,371 (GRCm39) missense possibly damaging 0.95
R1619:Ulk2 UTSW 11 61,672,572 (GRCm39) missense probably damaging 1.00
R1757:Ulk2 UTSW 11 61,732,165 (GRCm39) splice site probably benign
R1845:Ulk2 UTSW 11 61,703,564 (GRCm39) missense probably benign 0.04
R1883:Ulk2 UTSW 11 61,721,438 (GRCm39) missense probably damaging 1.00
R1966:Ulk2 UTSW 11 61,710,297 (GRCm39) splice site probably null
R2177:Ulk2 UTSW 11 61,682,335 (GRCm39) missense probably benign 0.01
R2416:Ulk2 UTSW 11 61,672,865 (GRCm39) missense probably damaging 1.00
R2509:Ulk2 UTSW 11 61,678,340 (GRCm39) missense probably benign 0.00
R2847:Ulk2 UTSW 11 61,715,555 (GRCm39) critical splice acceptor site probably null
R4736:Ulk2 UTSW 11 61,724,261 (GRCm39) missense probably damaging 1.00
R4997:Ulk2 UTSW 11 61,689,982 (GRCm39) missense probably benign 0.00
R5081:Ulk2 UTSW 11 61,694,488 (GRCm39) missense probably damaging 1.00
R5190:Ulk2 UTSW 11 61,672,537 (GRCm39) missense probably benign
R5346:Ulk2 UTSW 11 61,725,740 (GRCm39) missense probably damaging 1.00
R5348:Ulk2 UTSW 11 61,674,439 (GRCm39) missense probably benign
R5520:Ulk2 UTSW 11 61,698,970 (GRCm39) missense probably damaging 1.00
R5954:Ulk2 UTSW 11 61,694,622 (GRCm39) splice site probably benign
R6153:Ulk2 UTSW 11 61,672,572 (GRCm39) missense probably damaging 1.00
R6223:Ulk2 UTSW 11 61,678,330 (GRCm39) nonsense probably null
R7204:Ulk2 UTSW 11 61,674,457 (GRCm39) missense probably benign 0.11
R7205:Ulk2 UTSW 11 61,725,657 (GRCm39) missense possibly damaging 0.84
R7259:Ulk2 UTSW 11 61,672,909 (GRCm39) missense probably damaging 1.00
R7353:Ulk2 UTSW 11 61,710,174 (GRCm39) missense probably damaging 1.00
R7734:Ulk2 UTSW 11 61,744,127 (GRCm39) nonsense probably null
R7797:Ulk2 UTSW 11 61,672,928 (GRCm39) missense probably benign 0.06
R7808:Ulk2 UTSW 11 61,745,378 (GRCm39) missense probably damaging 1.00
R7930:Ulk2 UTSW 11 61,682,258 (GRCm39) critical splice donor site probably null
R7932:Ulk2 UTSW 11 61,698,916 (GRCm39) missense probably benign
R8882:Ulk2 UTSW 11 61,698,887 (GRCm39) critical splice donor site probably null
R8909:Ulk2 UTSW 11 61,690,380 (GRCm39) missense probably benign
R9704:Ulk2 UTSW 11 61,716,694 (GRCm39) missense probably damaging 1.00
X0028:Ulk2 UTSW 11 61,690,394 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16