Incidental Mutation 'IGL01134:Smr2'
ID 51169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smr2
Ensembl Gene ENSMUSG00000029281
Gene Name submaxillary gland androgen regulated protein 2
Synonyms MSG2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01134
Quality Score
Status
Chromosome 5
Chromosomal Location 88234415-88256912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88256378 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O09133
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: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca T G 11: 84,142,105 (GRCm39) H637Q probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap6 C A 12: 52,984,000 (GRCm39) A848E probably damaging Het
Cxxc4 A G 3: 133,946,420 (GRCm39) I334V probably null Het
Cyp2b13 T A 7: 25,781,125 (GRCm39) I179N probably damaging Het
Cyp2d40 C A 15: 82,645,102 (GRCm39) A183S unknown Het
Cyp2g1 A G 7: 26,509,256 (GRCm39) N110S probably benign Het
F5 A T 1: 164,019,548 (GRCm39) R674S possibly damaging Het
Fnip2 G T 3: 79,419,810 (GRCm39) Y155* probably null Het
Fut9 G T 4: 25,620,446 (GRCm39) Q123K probably benign Het
Gda A G 19: 21,394,429 (GRCm39) S143P probably damaging Het
Gpr162 T C 6: 124,835,820 (GRCm39) probably null Het
Hsf2bp A G 17: 32,206,378 (GRCm39) L251S probably damaging Het
Hsh2d A T 8: 72,947,375 (GRCm39) D24V probably damaging Het
Htr1f T A 16: 64,746,501 (GRCm39) T264S probably benign Het
Med12l G A 3: 58,949,696 (GRCm39) E151K possibly damaging Het
Mgat3 C A 15: 80,096,377 (GRCm39) N401K probably benign Het
Mmp27 T G 9: 7,573,298 (GRCm39) M130R probably benign Het
Mroh2b T A 15: 4,944,634 (GRCm39) S412T probably benign Het
Mrps9 A G 1: 42,942,557 (GRCm39) I338M probably damaging Het
Mtmr4 C T 11: 87,494,893 (GRCm39) T395M probably damaging Het
Nlrp9b A G 7: 19,757,112 (GRCm39) I116M probably benign Het
Nqo1 T C 8: 108,115,587 (GRCm39) D230G probably benign Het
Pcnx2 C T 8: 126,589,889 (GRCm39) V795I probably benign Het
Pde8a G A 7: 80,968,826 (GRCm39) R449Q possibly damaging Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Sema3e A G 5: 14,302,784 (GRCm39) R770G probably damaging Het
Trank1 T C 9: 111,220,849 (GRCm39) S2529P probably benign Het
Uspl1 T A 5: 149,141,103 (GRCm39) F367L probably damaging Het
Vps41 A G 13: 19,050,320 (GRCm39) S838G probably benign Het
Ythdf2 A T 4: 131,932,789 (GRCm39) F124I probably damaging Het
Other mutations in Smr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02903:Smr2 APN 5 88,256,489 (GRCm39) missense probably benign 0.03
IGL02952:Smr2 APN 5 88,236,095 (GRCm39) missense possibly damaging 0.71
IGL03245:Smr2 APN 5 88,256,709 (GRCm39) missense probably benign 0.01
R0832:Smr2 UTSW 5 88,256,683 (GRCm39) frame shift probably null
R1328:Smr2 UTSW 5 88,256,683 (GRCm39) frame shift probably null
R1575:Smr2 UTSW 5 88,256,683 (GRCm39) frame shift probably null
R1950:Smr2 UTSW 5 88,256,685 (GRCm39) frame shift probably null
R1950:Smr2 UTSW 5 88,256,683 (GRCm39) frame shift probably null
R2102:Smr2 UTSW 5 88,256,595 (GRCm39) missense probably damaging 0.96
R3616:Smr2 UTSW 5 88,256,683 (GRCm39) frame shift probably null
R4587:Smr2 UTSW 5 88,256,631 (GRCm39) missense probably benign 0.36
R4806:Smr2 UTSW 5 88,246,289 (GRCm39) nonsense probably null
R5809:Smr2 UTSW 5 88,256,699 (GRCm39) missense probably benign 0.04
R9207:Smr2 UTSW 5 88,256,726 (GRCm39) missense unknown
Posted On 2013-06-21