Incidental Mutation 'IGL01134:Smr2'
ID51169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smr2
Ensembl Gene ENSMUSG00000029281
Gene Namesubmaxillary gland androgen regulated protein 2
SynonymsMSG2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL01134
Quality Score
Status
Chromosome5
Chromosomal Location88086556-88109053 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88108519 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 19 (S19P)
Ref Sequence ENSEMBL: ENSMUSP00000142688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087043] [ENSMUST00000113257] [ENSMUST00000196070] [ENSMUST00000196477]
Predicted Effect possibly damaging
Transcript: ENSMUST00000087043
AA Change: S19P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084271
Gene: ENSMUSG00000029281
AA Change: S19P

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 120 8.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113257
Predicted Effect probably damaging
Transcript: ENSMUST00000196070
AA Change: S19P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143443
Gene: ENSMUSG00000029281
AA Change: S19P

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 115 9.4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196477
AA Change: S19P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142688
Gene: ENSMUSG00000029281
AA Change: S19P

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 115 9.4e-41 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Acaca T G 11: 84,251,279 H637Q probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap6 C A 12: 52,937,217 A848E probably damaging Het
Cxxc4 A G 3: 134,240,659 I334V probably null Het
Cyp2b13 T A 7: 26,081,700 I179N probably damaging Het
Cyp2d40 C A 15: 82,760,901 A183S unknown Het
Cyp2g1 A G 7: 26,809,831 N110S probably benign Het
F5 A T 1: 164,191,979 R674S possibly damaging Het
Fnip2 G T 3: 79,512,503 Y155* probably null Het
Fut9 G T 4: 25,620,446 Q123K probably benign Het
Gda A G 19: 21,417,065 S143P probably damaging Het
Gpr162 T C 6: 124,858,857 probably null Het
Hsf2bp A G 17: 31,987,404 L251S probably damaging Het
Hsh2d A T 8: 72,193,531 D24V probably damaging Het
Htr1f T A 16: 64,926,138 T264S probably benign Het
Med12l G A 3: 59,042,275 E151K possibly damaging Het
Mgat3 C A 15: 80,212,176 N401K probably benign Het
Mmp27 T G 9: 7,573,297 M130R probably benign Het
Mroh2b T A 15: 4,915,152 S412T probably benign Het
Mrps9 A G 1: 42,903,397 I338M probably damaging Het
Mtmr4 C T 11: 87,604,067 T395M probably damaging Het
Nlrp9b A G 7: 20,023,187 I116M probably benign Het
Nqo1 T C 8: 107,388,955 D230G probably benign Het
Pcnx2 C T 8: 125,863,150 V795I probably benign Het
Pde8a G A 7: 81,319,078 R449Q possibly damaging Het
Scn9a A G 2: 66,504,968 Y1226H probably damaging Het
Sema3e A G 5: 14,252,770 R770G probably damaging Het
Trank1 T C 9: 111,391,781 S2529P probably benign Het
Uspl1 T A 5: 149,204,293 F367L probably damaging Het
Vps41 A G 13: 18,866,150 S838G probably benign Het
Ythdf2 A T 4: 132,205,478 F124I probably damaging Het
Other mutations in Smr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02903:Smr2 APN 5 88108630 missense probably benign 0.03
IGL02952:Smr2 APN 5 88088236 missense possibly damaging 0.71
IGL03245:Smr2 APN 5 88108850 missense probably benign 0.01
R0832:Smr2 UTSW 5 88108824 frame shift probably null
R1328:Smr2 UTSW 5 88108824 frame shift probably null
R1575:Smr2 UTSW 5 88108824 frame shift probably null
R1950:Smr2 UTSW 5 88108824 frame shift probably null
R1950:Smr2 UTSW 5 88108826 frame shift probably null
R2102:Smr2 UTSW 5 88108736 missense probably damaging 0.96
R3616:Smr2 UTSW 5 88108824 frame shift probably null
R4587:Smr2 UTSW 5 88108772 missense probably benign 0.36
R4806:Smr2 UTSW 5 88098430 nonsense probably null
R5809:Smr2 UTSW 5 88108840 missense probably benign 0.04
Posted On2013-06-21