Incidental Mutation 'R0052:Rmdn2'
ID15251
Institutional Source Beutler Lab
Gene Symbol Rmdn2
Ensembl Gene ENSMUSG00000036368
Gene Nameregulator of microtubule dynamics 2
SynonymsFam82a1
MMRRC Submission 038346-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #R0052 (G1)
Quality Score
Status Validated
Chromosome17
Chromosomal Location79611863-79693192 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79650331 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 16 (E16G)
Ref Sequence ENSEMBL: ENSMUSP00000153203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040368] [ENSMUST00000224618] [ENSMUST00000225357]
Predicted Effect probably benign
Transcript: ENSMUST00000040368
AA Change: E161G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000044543
Gene: ENSMUSG00000036368
AA Change: E161G

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
Blast:PAS 70 133 4e-16 BLAST
low complexity region 137 149 N/A INTRINSIC
SCOP:d1hxia_ 290 386 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086570
SMART Domains Protein: ENSMUSP00000083761
Gene: ENSMUSG00000036368

DomainStartEndE-ValueType
low complexity region 195 210 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000224618
AA Change: E16G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000225357
AA Change: E161G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.122 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 78.2%
  • 10x: 46.7%
  • 20x: 12.5%
Validation Efficiency 90% (62/69)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,915,951 S438P possibly damaging Het
Atp2a1 A G 7: 126,457,897 probably benign Het
Bicd2 T A 13: 49,375,314 L184Q probably damaging Het
Bub1 G A 2: 127,809,039 T618I probably benign Het
Dsp A G 13: 38,197,364 D2096G possibly damaging Het
Eno4 A G 19: 58,968,553 D357G probably damaging Het
Fam214a A G 9: 75,018,983 probably benign Het
Fcrls A T 3: 87,256,778 I348N possibly damaging Het
Fgl2 A T 5: 21,375,349 S230C probably damaging Het
Ginm1 T A 10: 7,779,306 E57D possibly damaging Het
Itga9 T A 9: 118,636,549 I157N probably damaging Het
Kif21a T C 15: 90,970,857 E700G probably damaging Het
Mmd C T 11: 90,259,998 probably benign Het
Morn3 T C 5: 123,046,663 Y38C probably damaging Het
Prex2 T A 1: 11,160,156 L802Q probably damaging Het
Psd3 A G 8: 67,882,979 probably null Het
Ralgds T A 2: 28,544,388 probably null Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc4a4 A C 5: 89,156,336 H502P possibly damaging Het
Slco3a1 A T 7: 74,504,326 I166N probably benign Het
Snx5 A T 2: 144,259,192 probably null Het
Srgap1 T C 10: 121,800,827 D741G possibly damaging Het
St8sia2 G T 7: 73,943,290 Y339* probably null Het
Tdo2 T A 3: 81,967,025 N210I probably benign Het
Thada A T 17: 84,455,158 N104K probably damaging Het
Timm8b A T 9: 50,605,030 D61V possibly damaging Het
Trbv12-1 T C 6: 41,113,916 F74S possibly damaging Het
Tshz1 G A 18: 84,014,945 T446I possibly damaging Het
Ubap2l T C 3: 90,038,928 N123S possibly damaging Het
Usp12 A G 5: 146,739,104 V336A possibly damaging Het
Xrn2 T A 2: 147,040,965 probably benign Het
Zfp14 G T 7: 30,038,328 Q411K probably damaging Het
Other mutations in Rmdn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:Rmdn2 APN 17 79672388 nonsense probably null
R0052:Rmdn2 UTSW 17 79650331 missense probably damaging 0.99
R0127:Rmdn2 UTSW 17 79670569 missense probably damaging 1.00
R0206:Rmdn2 UTSW 17 79650287 splice site probably benign
R0440:Rmdn2 UTSW 17 79667955 missense probably damaging 1.00
R0720:Rmdn2 UTSW 17 79668029 critical splice donor site probably null
R1163:Rmdn2 UTSW 17 79659451 missense probably benign 0.00
R3746:Rmdn2 UTSW 17 79670552 splice site probably null
R4966:Rmdn2 UTSW 17 79666875 missense probably damaging 1.00
R5137:Rmdn2 UTSW 17 79667989 missense probably benign 0.02
R5259:Rmdn2 UTSW 17 79668017 missense probably damaging 1.00
R6439:Rmdn2 UTSW 17 79627542 intron probably benign
Posted On2012-12-17