Incidental Mutation 'R6293:Vstm2b'
ID 508554
Institutional Source Beutler Lab
Gene Symbol Vstm2b
Ensembl Gene ENSMUSG00000039257
Gene Name V-set and transmembrane domain containing 2B
Synonyms 2900093B09Rik
MMRRC Submission 044462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6293 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 40547614-40579468 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40549533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 63 (I63N)
Ref Sequence ENSEMBL: ENSMUSP00000145703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044705] [ENSMUST00000186352] [ENSMUST00000205845] [ENSMUST00000206223]
AlphaFold Q9JME9
Predicted Effect probably damaging
Transcript: ENSMUST00000044705
AA Change: I63N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044002
Gene: ENSMUSG00000039257
AA Change: I63N

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
IG 34 149 1.84e-11 SMART
low complexity region 175 189 N/A INTRINSIC
low complexity region 202 247 N/A INTRINSIC
low complexity region 267 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186352
SMART Domains Protein: ENSMUSP00000140241
Gene: ENSMUSG00000039257

DomainStartEndE-ValueType
IG 15 110 1.7e-2 SMART
low complexity region 136 150 N/A INTRINSIC
low complexity region 163 184 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189574
Predicted Effect probably damaging
Transcript: ENSMUST00000205845
AA Change: I63N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205953
Predicted Effect probably damaging
Transcript: ENSMUST00000206223
AA Change: I63N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Abcb1b T C 5: 8,903,493 (GRCm39) I1048T probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Alkbh8 G T 9: 3,347,841 (GRCm39) L211F possibly damaging Het
Ankrd27 T C 7: 35,307,885 (GRCm39) S375P possibly damaging Het
Apoc1 T A 7: 19,425,817 (GRCm39) T68S probably damaging Het
Arfgef2 T A 2: 166,715,508 (GRCm39) Y1318N possibly damaging Het
Camsap2 C A 1: 136,215,658 (GRCm39) R345L probably damaging Het
Ccdc38 C T 10: 93,398,659 (GRCm39) Q46* probably null Het
Cdk12 T A 11: 98,115,379 (GRCm39) M840K unknown Het
Cfap251 A C 5: 123,460,511 (GRCm39) N1158H probably damaging Het
Col12a1 A T 9: 79,521,640 (GRCm39) N2772K probably benign Het
Dthd1 A G 5: 63,000,193 (GRCm39) D505G probably damaging Het
Elf1 C T 14: 79,798,226 (GRCm39) H38Y probably damaging Het
Gcnt2 T A 13: 41,072,173 (GRCm39) V272D probably damaging Het
Gm9964 T A 11: 79,187,420 (GRCm39) K9M unknown Het
Gpr155 A G 2: 73,204,341 (GRCm39) S158P possibly damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hmcn2 T C 2: 31,225,463 (GRCm39) I124T probably damaging Het
Hydin A G 8: 111,324,543 (GRCm39) S4635G possibly damaging Het
Lrch2 C T X: 146,263,553 (GRCm39) A369T probably damaging Homo
Lrrc8c A G 5: 105,754,612 (GRCm39) Y129C probably damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mcm3ap C G 10: 76,307,312 (GRCm39) Y418* probably null Het
Mpdz A G 4: 81,278,293 (GRCm39) L764P probably damaging Het
Myt1l A G 12: 29,877,627 (GRCm39) D426G unknown Het
Ndel1 C T 11: 68,727,101 (GRCm39) R192H probably damaging Het
Nudt21 T C 8: 94,755,506 (GRCm39) D134G probably damaging Het
Nup210l A T 3: 90,022,371 (GRCm39) H113L probably damaging Het
Nxf1 A G 19: 8,746,546 (GRCm39) K586E probably damaging Het
Or2ag15 T C 7: 106,340,613 (GRCm39) H176R probably damaging Het
Or4s2 A G 2: 88,473,624 (GRCm39) E171G possibly damaging Het
Osbpl8 A G 10: 111,108,099 (GRCm39) Y365C possibly damaging Het
Pkd2l2 A G 18: 34,560,497 (GRCm39) Y368C probably damaging Het
Pkn2 A G 3: 142,515,465 (GRCm39) F649L probably benign Het
Pla2g4a T C 1: 149,755,798 (GRCm39) Y205C probably damaging Het
Prex2 A G 1: 11,232,522 (GRCm39) N863S probably benign Het
Prkdc A G 16: 15,605,019 (GRCm39) K2979R probably benign Het
Ptk6 T C 2: 180,840,253 (GRCm39) Y251C probably damaging Het
Rapgef6 T A 11: 54,525,607 (GRCm39) W334R probably damaging Het
Rbm11 A T 16: 75,393,655 (GRCm39) probably null Het
Rhbdl1 A G 17: 26,053,943 (GRCm39) L309P probably damaging Het
Rhbg G A 3: 88,153,133 (GRCm39) R274* probably null Het
Rpp30 A G 19: 36,081,845 (GRCm39) *269W probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Slc44a1 A G 4: 53,561,099 (GRCm39) K605R probably damaging Het
Slco2a1 A G 9: 102,927,346 (GRCm39) S80G probably benign Het
Tmem50b A T 16: 91,380,164 (GRCm39) M71K probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyro3 A G 2: 119,638,481 (GRCm39) T303A possibly damaging Het
Uba3 A T 6: 97,173,869 (GRCm39) D105E probably damaging Het
Vmn1r21 T C 6: 57,821,255 (GRCm39) D63G probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zscan22 T A 7: 12,640,834 (GRCm39) C359* probably null Het
Other mutations in Vstm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03026:Vstm2b APN 7 40,551,945 (GRCm39) nonsense probably null
R0418:Vstm2b UTSW 7 40,551,876 (GRCm39) missense probably damaging 1.00
R0563:Vstm2b UTSW 7 40,551,899 (GRCm39) missense probably damaging 1.00
R2519:Vstm2b UTSW 7 40,552,299 (GRCm39) missense probably benign 0.33
R5194:Vstm2b UTSW 7 40,551,912 (GRCm39) splice site probably null
R5371:Vstm2b UTSW 7 40,550,702 (GRCm39) missense possibly damaging 0.84
R5436:Vstm2b UTSW 7 40,550,707 (GRCm39) splice site probably null
R5580:Vstm2b UTSW 7 40,552,050 (GRCm39) missense probably damaging 1.00
R5915:Vstm2b UTSW 7 40,552,107 (GRCm39) missense possibly damaging 0.66
R7048:Vstm2b UTSW 7 40,578,800 (GRCm39) missense possibly damaging 0.92
R8403:Vstm2b UTSW 7 40,551,899 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGTCACTTAGTAGCTGGG -3'
(R):5'- CCGTTTACTTTGTCAATACTGTGG -3'

Sequencing Primer
(F):5'- TAGCAGGAGACCGACCG -3'
(R):5'- ACGGGAGGTGGCTGAGC -3'
Posted On 2018-03-15