Incidental Mutation 'R1619:Ulk2'
ID 174546
Institutional Source Beutler Lab
Gene Symbol Ulk2
Ensembl Gene ENSMUSG00000004798
Gene Name unc-51 like kinase 2
Synonyms A830085I22Rik, Unc51.2
MMRRC Submission 039656-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R1619 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61666475-61745899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61672572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 922 (V922D)
Ref Sequence ENSEMBL: ENSMUSP00000004920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004920]
AlphaFold Q9QY01
Predicted Effect probably damaging
Transcript: ENSMUST00000004920
AA Change: V922D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004920
Gene: ENSMUSG00000004798
AA Change: V922D

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
Meta Mutation Damage Score 0.3531 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A T 10: 79,844,889 (GRCm39) H1537L probably damaging Het
Actg2 T A 6: 83,500,169 (GRCm39) N116I probably damaging Het
Actn1 G A 12: 80,219,796 (GRCm39) H692Y probably damaging Het
Adamts6 C T 13: 104,449,285 (GRCm39) P36S probably benign Het
Agr3 G A 12: 35,997,858 (GRCm39) probably null Het
Ank3 T C 10: 69,715,805 (GRCm39) V500A probably damaging Het
BC051019 T A 7: 109,317,269 (GRCm39) D141V probably damaging Het
Bco1 T C 8: 117,835,454 (GRCm39) F135S probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccdc42 A G 11: 68,485,115 (GRCm39) K210E probably damaging Het
Cckar A T 5: 53,857,409 (GRCm39) W263R probably damaging Het
Cela2a A G 4: 141,553,252 (GRCm39) probably null Het
Cep97 A T 16: 55,748,159 (GRCm39) N90K probably damaging Het
Ces2g A T 8: 105,693,984 (GRCm39) Q440L probably damaging Het
Chchd6 G T 6: 89,396,736 (GRCm39) T225K possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chrna5 A G 9: 54,911,649 (GRCm39) T46A probably benign Het
Col16a1 G A 4: 129,992,733 (GRCm39) G1531S probably damaging Het
Col19a1 A T 1: 24,573,172 (GRCm39) V200E unknown Het
Csf2rb A G 15: 78,219,411 (GRCm39) D2G probably damaging Het
Csmd3 G A 15: 47,813,346 (GRCm39) S1062L probably damaging Het
Cul5 G T 9: 53,569,893 (GRCm39) Q113K probably benign Het
Dmwd TAGCCTGGGAA TAGCCTGGGAAGCCTGGGAA 7: 18,814,959 (GRCm39) probably benign Het
Dse T C 10: 34,029,230 (GRCm39) D620G probably damaging Het
Dsg1c A G 18: 20,397,899 (GRCm39) N33S probably benign Het
Epc2 G A 2: 49,439,990 (GRCm39) V803I probably damaging Het
Erap1 T A 13: 74,819,500 (GRCm39) H171Q probably damaging Het
Esrrb T C 12: 86,561,274 (GRCm39) V336A possibly damaging Het
Fech A T 18: 64,595,189 (GRCm39) W300R probably damaging Het
Fgd4 T C 16: 16,241,920 (GRCm39) I635V possibly damaging Het
Galc A T 12: 98,200,563 (GRCm39) N282K probably benign Het
Gpat2 A G 2: 127,270,637 (GRCm39) Y95C probably benign Het
Grm2 T A 9: 106,524,670 (GRCm39) I682F probably damaging Het
Hdac10 G T 15: 89,010,878 (GRCm39) A241D probably damaging Het
Helz T A 11: 107,527,105 (GRCm39) C182* probably null Het
Ift140 A G 17: 25,307,839 (GRCm39) Y978C probably damaging Het
Intu T A 3: 40,652,061 (GRCm39) C839* probably null Het
Jmjd1c T C 10: 67,055,654 (GRCm39) V358A probably benign Het
Kif26b A G 1: 178,744,043 (GRCm39) S1380G probably benign Het
Lrp1b A G 2: 40,587,601 (GRCm39) S116P unknown Het
Lrrc2 T A 9: 110,790,041 (GRCm39) S99R probably benign Het
Mrpl48 G A 7: 100,195,482 (GRCm39) probably benign Het
Mup9 A G 4: 60,377,878 (GRCm39) probably benign Het
Nap1l1 G A 10: 111,329,240 (GRCm39) V285I possibly damaging Het
Nepro A G 16: 44,547,391 (GRCm39) D36G probably benign Het
Nkain4 A G 2: 180,577,794 (GRCm39) F187L probably damaging Het
Nobox A T 6: 43,284,401 (GRCm39) C82S possibly damaging Het
Ntn4 C A 10: 93,480,596 (GRCm39) Q70K probably damaging Het
Or13j1 A G 4: 43,706,292 (GRCm39) I92T probably damaging Het
Or1e26 A T 11: 73,480,118 (GRCm39) W149R probably damaging Het
Or4k37 A G 2: 111,159,306 (GRCm39) I181V probably benign Het
Or51a43 T C 7: 103,717,738 (GRCm39) R167G probably damaging Het
Or5b122 T A 19: 13,562,978 (GRCm39) F103L probably benign Het
Or9r3 A G 10: 129,948,548 (GRCm39) I37T possibly damaging Het
Pappa A G 4: 65,094,466 (GRCm39) E497G probably damaging Het
Pard3 C A 8: 128,106,983 (GRCm39) T569K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdh10 A G 3: 45,334,747 (GRCm39) N354D possibly damaging Het
Pdgfc T C 3: 81,082,194 (GRCm39) V129A probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Phf20l1 A T 15: 66,487,108 (GRCm39) H407L possibly damaging Het
Phip A T 9: 82,753,502 (GRCm39) D1747E probably benign Het
Pkd1l1 A G 11: 8,900,413 (GRCm39) S43P probably damaging Het
Plekhg2 T C 7: 28,067,846 (GRCm39) E202G probably damaging Het
Rapsn A G 2: 90,873,504 (GRCm39) D270G possibly damaging Het
Rims2 A C 15: 39,370,382 (GRCm39) S939R probably damaging Het
Ripor3 T C 2: 167,822,765 (GRCm39) D932G probably damaging Het
Rtp2 A T 16: 23,749,421 (GRCm39) W30R probably damaging Het
Scgb2b27 A T 7: 33,711,557 (GRCm39) D97E probably benign Het
Slc25a46 T C 18: 31,716,542 (GRCm39) N320S probably benign Het
Slc9b1 A G 3: 135,060,765 (GRCm39) probably null Het
Socs4 T A 14: 47,527,740 (GRCm39) M225K possibly damaging Het
Spata31d1a A T 13: 59,850,247 (GRCm39) L627* probably null Het
Srcin1 A G 11: 97,416,307 (GRCm39) L975P probably damaging Het
Stard3 T A 11: 98,267,435 (GRCm39) probably null Het
Susd2 G T 10: 75,473,878 (GRCm39) S572R possibly damaging Het
Tll1 C A 8: 64,509,307 (GRCm39) A568S probably benign Het
Tmem132a C G 19: 10,839,062 (GRCm39) G460A probably damaging Het
Trim62 A G 4: 128,803,281 (GRCm39) K444E probably damaging Het
Trpm3 A G 19: 22,689,271 (GRCm39) T67A probably damaging Het
Ttc6 T C 12: 57,784,454 (GRCm39) M1841T possibly damaging Het
Vmn2r38 C A 7: 9,078,532 (GRCm39) V617L probably damaging Het
Xkr6 G A 14: 64,056,766 (GRCm39) V226M probably benign Het
Zfp940 G A 7: 29,544,962 (GRCm39) A315V possibly damaging Het
Zfr C A 15: 12,150,473 (GRCm39) T480K possibly damaging 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
IGL02185:Ulk2 APN 11 61,672,886 (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
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
Predicted Primers PCR Primer
(F):5'- CACACACCTGGGACTTGAGAAAGG -3'
(R):5'- ACAGAACAGTGCAGTGTTCAGGC -3'

Sequencing Primer
(F):5'- gattttcctgcctctatctccc -3'
(R):5'- TGTGTCCCACAGAGTCAGTC -3'
Posted On 2014-04-24