Incidental Mutation 'R4742:Rtkn2'
ID 358143
Institutional Source Beutler Lab
Gene Symbol Rtkn2
Ensembl Gene ENSMUSG00000037846
Gene Name rhotekin 2
Synonyms Mbf, RTKN2, Plekhk1, B130039D23Rik
MMRRC Submission 041966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R4742 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 67815371-67894259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67839144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 154 (T154A)
Ref Sequence ENSEMBL: ENSMUSP00000116166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068994] [ENSMUST00000105437] [ENSMUST00000117086] [ENSMUST00000118160] [ENSMUST00000147556]
AlphaFold Q14B46
Predicted Effect possibly damaging
Transcript: ENSMUST00000068994
AA Change: T157A

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070717
Gene: ENSMUSG00000037846
AA Change: T157A

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: T154A

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101077
Gene: ENSMUSG00000037846
AA Change: T154A

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 possibly damaging
Transcript: ENSMUST00000117086
AA Change: T154A

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112419
Gene: ENSMUSG00000037846
AA Change: T154A

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: T157A

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112946
Gene: ENSMUSG00000037846
AA Change: T157A

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 possibly damaging
Transcript: ENSMUST00000147556
AA Change: T154A

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116166
Gene: ENSMUSG00000037846
AA Change: T154A

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
Meta Mutation Damage Score 0.1268 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 94% (51/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030423J24Rik G T 13: 71,031,644 (GRCm39) R17L unknown Het
Acan T C 7: 78,750,517 (GRCm39) F1763L probably benign Het
Adgrb1 T A 15: 74,401,328 (GRCm39) L108* probably null Het
Anapc2 T A 2: 25,163,555 (GRCm39) probably null Het
Apbb1ip A G 2: 22,716,928 (GRCm39) K177E unknown Het
Azgp1 T A 5: 137,987,888 (GRCm39) Y223* probably null Het
Cfap44 T G 16: 44,269,615 (GRCm39) probably null Het
Chfr C T 5: 110,291,464 (GRCm39) T94I probably benign Het
Chrna10 T G 7: 101,762,344 (GRCm39) Q282P probably damaging Het
Col9a3 G T 2: 180,245,180 (GRCm39) G130W unknown Het
Dcaf1 A G 9: 106,735,754 (GRCm39) T901A probably benign Het
Dock2 T G 11: 34,244,170 (GRCm39) probably null Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Fdxacb1 A G 9: 50,679,968 (GRCm39) probably benign Het
Fhip1b A G 7: 105,033,518 (GRCm39) V566A probably damaging Het
Il31ra G T 13: 112,660,501 (GRCm39) S615* probably null Het
Itgam C T 7: 127,712,245 (GRCm39) S827F probably damaging Het
Mapkbp1 T A 2: 119,847,299 (GRCm39) V512E probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nab2 T C 10: 127,498,696 (GRCm39) T458A probably benign Het
Nadsyn1 A G 7: 143,352,367 (GRCm39) probably benign Het
Nek10 A G 14: 14,861,624 (GRCm38) D560G probably null Het
Or2ag13 A T 7: 106,472,635 (GRCm39) N272K probably damaging Het
Or2ak6 A G 11: 58,592,685 (GRCm39) R53G probably benign Het
Or8b46 T C 9: 38,450,952 (GRCm39) S254P probably damaging Het
Pou1f1 C A 16: 65,320,367 (GRCm39) P19T probably benign Het
Prdm9 A T 17: 15,773,783 (GRCm39) D329E probably damaging Het
Prkn T A 17: 11,456,591 (GRCm39) probably null Het
Ptprm A C 17: 67,051,746 (GRCm39) Y962* probably null Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Slitrk3 T C 3: 72,955,898 (GRCm39) D958G probably benign Het
Spata31d1b C A 13: 59,864,426 (GRCm39) H525N probably damaging Het
Tacc2 A G 7: 130,227,697 (GRCm39) R1461G probably benign Het
Tas2r105 G A 6: 131,663,814 (GRCm39) H205Y probably damaging Het
Tenm4 A G 7: 96,446,691 (GRCm39) N809D probably damaging Het
Thoc2l A T 5: 104,666,723 (GRCm39) N415I probably benign Het
Tns1 A G 1: 74,163,449 (GRCm39) probably null Het
Top1 A G 2: 160,545,490 (GRCm39) probably null Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Txndc9 T C 1: 38,026,765 (GRCm39) D135G possibly damaging Het
Usp3 A G 9: 66,427,959 (GRCm39) Y339H probably damaging Het
Vmn1r5 A T 6: 56,963,236 (GRCm39) K304* probably null Het
Vmn2r92 A G 17: 18,387,119 (GRCm39) T153A probably benign Het
Xkr5 A T 8: 18,998,746 (GRCm39) *55K probably null Het
Other mutations in Rtkn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Rtkn2 APN 10 67,877,494 (GRCm39) missense probably benign 0.00
IGL01338:Rtkn2 APN 10 67,861,349 (GRCm39) missense possibly damaging 0.83
IGL01865:Rtkn2 APN 10 67,871,705 (GRCm39) missense probably benign 0.44
IGL03074:Rtkn2 APN 10 67,877,551 (GRCm39) missense probably damaging 0.99
IGL03383:Rtkn2 APN 10 67,853,667 (GRCm39) missense probably damaging 1.00
PIT4520001:Rtkn2 UTSW 10 67,823,291 (GRCm39) missense probably damaging 1.00
R1167:Rtkn2 UTSW 10 67,833,450 (GRCm39) missense probably damaging 1.00
R2166:Rtkn2 UTSW 10 67,877,526 (GRCm39) missense possibly damaging 0.55
R2323:Rtkn2 UTSW 10 67,837,764 (GRCm39) missense probably damaging 1.00
R3826:Rtkn2 UTSW 10 67,833,456 (GRCm39) splice site probably null
R3827:Rtkn2 UTSW 10 67,833,456 (GRCm39) splice site probably null
R3828:Rtkn2 UTSW 10 67,833,456 (GRCm39) splice site probably null
R3829:Rtkn2 UTSW 10 67,833,456 (GRCm39) splice site probably null
R4867:Rtkn2 UTSW 10 67,837,757 (GRCm39) missense probably damaging 0.99
R4871:Rtkn2 UTSW 10 67,841,463 (GRCm39) missense probably damaging 1.00
R4936:Rtkn2 UTSW 10 67,877,745 (GRCm39) makesense probably null
R5009:Rtkn2 UTSW 10 67,877,239 (GRCm39) missense probably benign 0.14
R5709:Rtkn2 UTSW 10 67,837,800 (GRCm39) missense probably benign 0.31
R6295:Rtkn2 UTSW 10 67,815,529 (GRCm39) start gained probably benign
R6307:Rtkn2 UTSW 10 67,871,662 (GRCm39) missense possibly damaging 0.60
R6751:Rtkn2 UTSW 10 67,877,283 (GRCm39) missense probably benign 0.43
R6823:Rtkn2 UTSW 10 67,862,462 (GRCm39) missense probably damaging 0.96
R7011:Rtkn2 UTSW 10 67,815,495 (GRCm39) unclassified probably benign
R7369:Rtkn2 UTSW 10 67,877,259 (GRCm39) missense probably damaging 0.96
R7403:Rtkn2 UTSW 10 67,841,466 (GRCm39) missense probably benign 0.18
R7760:Rtkn2 UTSW 10 67,841,439 (GRCm39) missense probably damaging 1.00
R7803:Rtkn2 UTSW 10 67,815,643 (GRCm39) critical splice donor site probably null
R7992:Rtkn2 UTSW 10 67,875,923 (GRCm39) missense probably damaging 1.00
R9034:Rtkn2 UTSW 10 67,841,416 (GRCm39) missense probably damaging 1.00
R9301:Rtkn2 UTSW 10 67,871,677 (GRCm39) missense possibly damaging 0.85
R9383:Rtkn2 UTSW 10 67,839,094 (GRCm39) missense possibly damaging 0.94
Z1177:Rtkn2 UTSW 10 67,861,433 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACAGGTATGATTGTCCTGC -3'
(R):5'- GTCAACTGTCTGCTTGCTAAG -3'

Sequencing Primer
(F):5'- GTCCTGCTTGTGACGGCTC -3'
(R):5'- CAGGATGTAGGCCATCA -3'
Posted On 2015-11-11