Incidental Mutation 'IGL02952:Smr2'
ID 364941
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: 0.077) question?
Stock # IGL02952
Quality Score
Status
Chromosome 5
Chromosomal Location 88234415-88256912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88236095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 16 (C16S)
Ref Sequence ENSEMBL: ENSMUSP00000142444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087043] [ENSMUST00000196070] [ENSMUST00000196477] [ENSMUST00000199635]
AlphaFold O09133
Predicted Effect possibly damaging
Transcript: ENSMUST00000087043
AA Change: C16S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000084271
Gene: ENSMUSG00000029281
AA Change: C16S

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 120 8.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196070
SMART Domains Protein: ENSMUSP00000143443
Gene: ENSMUSG00000029281

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 115 9.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196477
SMART Domains Protein: ENSMUSP00000142688
Gene: ENSMUSG00000029281

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 115 9.4e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199635
AA Change: C16S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142444
Gene: ENSMUSG00000029281
AA Change: C16S

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 117 2.2e-43 PFAM
low complexity region 134 145 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,654,984 (GRCm39) D1436V probably damaging Het
Abca7 G T 10: 79,843,242 (GRCm39) R1239L probably damaging Het
Acp2 T C 2: 91,038,788 (GRCm39) probably benign Het
Adamts4 A G 1: 171,078,917 (GRCm39) N179S probably damaging Het
Adgrv1 T C 13: 81,581,755 (GRCm39) D4763G probably benign Het
Atp11b T C 3: 35,882,844 (GRCm39) V633A probably damaging Het
Cadm2 A T 16: 66,461,338 (GRCm39) I342K probably damaging Het
Capn10 T C 1: 92,872,896 (GRCm39) S541P probably damaging Het
Ccnf A G 17: 24,450,299 (GRCm39) L462P possibly damaging Het
Cdc27 T C 11: 104,408,290 (GRCm39) Y546C probably damaging Het
Cep120 G T 18: 53,816,300 (GRCm39) probably benign Het
Cetn2 T C X: 71,957,808 (GRCm39) probably null Het
Cyp1a1 C T 9: 57,609,993 (GRCm39) S469L probably benign Het
Dnah17 G A 11: 117,979,094 (GRCm39) T1766I probably benign Het
Doc2g G A 19: 4,056,719 (GRCm39) G345D possibly damaging Het
Dock4 T C 12: 40,760,902 (GRCm39) probably null Het
Dop1a T A 9: 86,414,975 (GRCm39) probably benign Het
Emilin2 C A 17: 71,587,816 (GRCm39) V99F probably damaging Het
Exoc8 A G 8: 125,624,275 (GRCm39) S31P probably benign Het
Gask1b T C 3: 79,793,646 (GRCm39) L38P probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Gm9742 T A 13: 8,079,930 (GRCm39) noncoding transcript Het
Gpr160 T C 3: 30,950,443 (GRCm39) Y172H probably benign Het
Ifnk T A 4: 35,152,495 (GRCm39) L141Q probably damaging Het
Klhl36 A G 8: 120,597,223 (GRCm39) E308G probably benign Het
Lrp1b T C 2: 41,396,715 (GRCm39) I450M probably benign Het
Noxa1 T C 2: 24,981,773 (GRCm39) Y110C probably damaging Het
Or10ad1 T C 15: 98,105,470 (GRCm39) Y265C probably damaging Het
Pkd2 A T 5: 104,628,026 (GRCm39) T367S possibly damaging Het
Polg2 T C 11: 106,663,539 (GRCm39) I385V possibly damaging Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Prr14l A G 5: 32,993,014 (GRCm39) S17P unknown Het
Prss22 C A 17: 24,215,697 (GRCm39) C75F probably damaging Het
Ptgs1 A G 2: 36,141,253 (GRCm39) K567E probably benign Het
Ptprz1 A G 6: 23,036,925 (GRCm39) I1141M probably damaging Het
R3hcc1l A G 19: 42,552,433 (GRCm39) K477E probably damaging Het
Riok1 A G 13: 38,232,866 (GRCm39) Y194C probably damaging Het
Stk25 A T 1: 93,553,798 (GRCm39) I187N probably damaging Het
Trhde T C 10: 114,636,478 (GRCm39) E243G probably damaging Het
Vmn2r3 T C 3: 64,186,256 (GRCm39) E143G probably damaging Het
Other mutations in Smr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Smr2 APN 5 88,256,378 (GRCm39) missense probably damaging 0.97
IGL02903:Smr2 APN 5 88,256,489 (GRCm39) missense probably benign 0.03
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 2015-12-18