Incidental Mutation 'IGL03383:Rtkn2'
ID420764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtkn2
Ensembl Gene ENSMUSG00000037846
Gene Namerhotekin 2
SynonymsPlekhk1, B130039D23Rik, RTKN2, Mbf
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL03383
Quality Score
Status
Chromosome10
Chromosomal Location67979570-68059740 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68017837 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 232 (T232A)
Ref Sequence ENSEMBL: ENSMUSP00000116166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068994] [ENSMUST00000105437] [ENSMUST00000117086] [ENSMUST00000118160] [ENSMUST00000147556]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068994
AA Change: T235A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070717
Gene: ENSMUSG00000037846
AA Change: T235A

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 93 243 4.9e-37 PFAM
PH 282 389 1.11e-6 SMART
low complexity region 529 543 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105437
AA Change: T233A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101077
Gene: ENSMUSG00000037846
AA Change: T233A

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 90 241 3.1e-37 PFAM
PH 280 387 1.11e-6 SMART
low complexity region 527 541 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117086
AA Change: T232A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112419
Gene: ENSMUSG00000037846
AA Change: T232A

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 90 240 4.9e-37 PFAM
PH 279 386 1.11e-6 SMART
low complexity region 526 540 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118160
AA Change: T235A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112946
Gene: ENSMUSG00000037846
AA Change: T235A

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 94 242 1.4e-49 PFAM
PH 282 389 1.11e-6 SMART
low complexity region 529 543 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000147556
AA Change: T232A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116166
Gene: ENSMUSG00000037846
AA Change: T232A

DomainStartEndE-ValueType
Blast:Hr1 12 75 4e-30 BLAST
Pfam:Anillin 90 240 4.9e-37 PFAM
PH 279 386 1.11e-6 SMART
low complexity region 526 540 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,657,423 probably benign Het
Cit T C 5: 115,873,845 probably benign Het
Clmp A G 9: 40,774,441 N211S probably damaging Het
Cnot2 A G 10: 116,494,817 probably benign Het
Cntn6 A G 6: 104,776,457 probably benign Het
Dnajb9 C T 12: 44,208,313 probably benign Het
Ece2 T A 16: 20,633,097 N411K possibly damaging Het
Fam208a A G 14: 27,441,961 I235V possibly damaging Het
Fshr A G 17: 89,046,699 I77T possibly damaging Het
Fshr A G 17: 88,985,693 M519T probably damaging Het
Gm10654 G A 8: 70,932,131 noncoding transcript Het
Gm5093 A G 17: 46,439,591 I170T probably benign Het
Meis3 A G 7: 16,183,819 K299R probably damaging Het
Nxf1 T C 19: 8,763,697 F15L probably damaging Het
Nxpe3 T C 16: 55,849,713 D343G probably benign Het
Olfr1246 A T 2: 89,590,312 Y268N probably benign Het
Polr3k A G 2: 181,866,027 T65A probably damaging Het
Preb A T 5: 30,958,321 W222R probably damaging Het
Psmd11 T C 11: 80,469,845 I56T probably damaging Het
Scaf11 T C 15: 96,420,183 probably null Het
Slc4a10 A T 2: 62,267,436 K493M probably damaging Het
Stard10 A G 7: 101,342,570 K112E probably damaging Het
Sugp1 A T 8: 70,069,567 probably benign Het
Tmem156 T C 5: 65,075,697 E139G probably damaging Het
Tubd1 C T 11: 86,549,008 probably benign Het
Uap1 G A 1: 170,158,891 T174M probably damaging Het
Vmn2r13 T C 5: 109,156,532 T678A probably damaging Het
Vmn2r84 A T 10: 130,386,687 C555S probably damaging Het
Vps13d T C 4: 145,168,319 probably null Het
Vps8 T C 16: 21,435,823 probably null Het
Wee1 A G 7: 110,139,692 N590S probably damaging Het
Zfp112 C A 7: 24,125,678 S357Y probably damaging Het
Zfp423 T A 8: 87,859,452 K48* probably null Het
Zscan4d A G 7: 11,162,765 V226A probably benign Het
Other mutations in Rtkn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Rtkn2 APN 10 68041664 missense probably benign 0.00
IGL01338:Rtkn2 APN 10 68025519 missense possibly damaging 0.83
IGL01865:Rtkn2 APN 10 68035875 missense probably benign 0.44
IGL03074:Rtkn2 APN 10 68041721 missense probably damaging 0.99
PIT4520001:Rtkn2 UTSW 10 67987461 missense probably damaging 1.00
R1167:Rtkn2 UTSW 10 67997620 missense probably damaging 1.00
R2166:Rtkn2 UTSW 10 68041696 missense possibly damaging 0.55
R2323:Rtkn2 UTSW 10 68001934 missense probably damaging 1.00
R3826:Rtkn2 UTSW 10 67997626 splice site probably null
R3827:Rtkn2 UTSW 10 67997626 splice site probably null
R3828:Rtkn2 UTSW 10 67997626 splice site probably null
R3829:Rtkn2 UTSW 10 67997626 splice site probably null
R4742:Rtkn2 UTSW 10 68003314 missense possibly damaging 0.72
R4867:Rtkn2 UTSW 10 68001927 missense probably damaging 0.99
R4871:Rtkn2 UTSW 10 68005633 missense probably damaging 1.00
R4936:Rtkn2 UTSW 10 68041915 makesense probably null
R5009:Rtkn2 UTSW 10 68041409 missense probably benign 0.14
R5709:Rtkn2 UTSW 10 68001970 missense probably benign 0.31
R6295:Rtkn2 UTSW 10 67979699 start gained probably benign
R6307:Rtkn2 UTSW 10 68035832 missense possibly damaging 0.60
R6751:Rtkn2 UTSW 10 68041453 missense probably benign 0.43
R6823:Rtkn2 UTSW 10 68026632 missense probably damaging 0.96
R7011:Rtkn2 UTSW 10 67979665 unclassified probably benign
R7369:Rtkn2 UTSW 10 68041429 missense probably damaging 0.96
R7403:Rtkn2 UTSW 10 68005636 missense probably benign 0.18
R7760:Rtkn2 UTSW 10 68005609 missense probably damaging 1.00
R7803:Rtkn2 UTSW 10 67979813 critical splice donor site probably null
R7992:Rtkn2 UTSW 10 68040093 missense probably damaging 1.00
Z1177:Rtkn2 UTSW 10 68025603 missense probably damaging 1.00
Posted On2016-08-02