Incidental Mutation 'IGL01704:Csn1s2b'
ID104542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csn1s2b
Ensembl Gene ENSMUSG00000061388
Gene Namecasein alpha s2-like B
SynonymsCsnd, Csne
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01704
Quality Score
Status
Chromosome5
Chromosomal Location87808082-87824426 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 87813111 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 25 (S25R)
Ref Sequence ENSEMBL: ENSMUSP00000072352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072539] [ENSMUST00000101057] [ENSMUST00000113279] [ENSMUST00000197301]
Predicted Effect probably damaging
Transcript: ENSMUST00000072539
AA Change: S25R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072352
Gene: ENSMUSG00000061388
AA Change: S25R

DomainStartEndE-ValueType
Pfam:Casein 58 136 4e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000101057
AA Change: S25R
Predicted Effect unknown
Transcript: ENSMUST00000113279
AA Change: S25R
SMART Domains Protein: ENSMUSP00000108904
Gene: ENSMUSG00000061388
AA Change: S25R

DomainStartEndE-ValueType
Pfam:Casein 55 133 5.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000197301
AA Change: S25R

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142449
Gene: ENSMUSG00000061388
AA Change: S25R

DomainStartEndE-ValueType
Pfam:Casein 45 127 7.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200098
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the alpha-s2-like casein gene family, and this gene product is a calcium-sensitive casein. Members of this gene family are organized as a gene cluster that is conserved in its order, but with greater conservation amongst orthologs than paralogs. The protein encoded by this gene interacts with other casein proteins to form a micelle structure, and is a major source of protein in milk. This structure is important for the transport of calcium, phosphate, and protein. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brsk1 A G 7: 4,704,261 E271G probably benign Het
Card9 A G 2: 26,356,862 F325L probably benign Het
Cct8l1 T A 5: 25,517,099 S271T probably benign Het
Clca2 A G 3: 145,095,218 Y125H probably benign Het
Dnmt1 C T 9: 20,910,180 V1227I probably damaging Het
Fpr1 G A 17: 17,876,972 R252W possibly damaging Het
Gm15155 T A X: 156,303,256 D69E unknown Het
Hltf T C 3: 20,083,746 probably benign Het
Hnrnpr A G 4: 136,329,381 I130V possibly damaging Het
Klra9 G T 6: 130,189,781 S40* probably null Het
Ldoc1 C A X: 61,709,931 Y74* probably null Het
Lias G T 5: 65,405,330 V318F probably damaging Het
Mtss1 A G 15: 59,055,083 V48A possibly damaging Het
Myo9b C T 8: 71,359,642 P2019L probably damaging Het
Ogdhl T C 14: 32,337,631 probably benign Het
Olfr1447 T C 19: 12,901,739 I14V probably benign Het
Parp4 A G 14: 56,602,326 D497G probably damaging Het
Pcnx3 T C 19: 5,667,476 D1535G probably damaging Het
Pcx G T 19: 4,621,060 K1103N probably damaging Het
Pdgfd G A 9: 6,337,327 V220M probably damaging Het
Pola2 A G 19: 5,942,019 S542P probably damaging Het
Ppip5k1 G A 2: 121,312,074 T1278M possibly damaging Het
Pramef6 C T 4: 143,895,631 D385N probably benign Het
Ralgapb T C 2: 158,420,875 V11A possibly damaging Het
Rhox2f T A X: 37,571,981 V124E probably benign Het
Rnf213 T C 11: 119,449,876 probably null Het
Slc38a10 T C 11: 120,151,087 probably benign Het
Smco1 T C 16: 32,273,886 V125A probably benign Het
Tg A T 15: 66,671,351 Q38L probably damaging Het
Trpv5 A T 6: 41,653,258 S633T possibly damaging Het
Vmn2r97 T C 17: 18,947,811 F776L probably damaging Het
Zranb3 A C 1: 127,967,939 V724G possibly damaging Het
Other mutations in Csn1s2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Csn1s2b APN 5 87820951 nonsense probably null
IGL01785:Csn1s2b APN 5 87809913 missense possibly damaging 0.91
IGL02689:Csn1s2b APN 5 87809921 missense probably benign 0.41
R1596:Csn1s2b UTSW 5 87819058 splice site probably benign
R1649:Csn1s2b UTSW 5 87819084 missense probably benign 0.07
R1682:Csn1s2b UTSW 5 87822303 missense probably damaging 0.98
R1747:Csn1s2b UTSW 5 87816670 splice site probably benign
R3123:Csn1s2b UTSW 5 87819058 splice site probably benign
R4667:Csn1s2b UTSW 5 87822311 missense possibly damaging 0.53
R4781:Csn1s2b UTSW 5 87819093 missense possibly damaging 0.77
R4965:Csn1s2b UTSW 5 87813961 missense possibly damaging 0.81
R6013:Csn1s2b UTSW 5 87824239 utr 3 prime probably null
R6730:Csn1s2b UTSW 5 87822268 missense probably benign 0.00
Posted On2014-01-21