Incidental Mutation 'R3123:Csn1s2b'
ID 264146
Institutional Source Beutler Lab
Gene Symbol Csn1s2b
Ensembl Gene ENSMUSG00000061388
Gene Name casein alpha s2-like B
Synonyms Csne, Csnd
MMRRC Submission 040596-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R3123 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 87955980-87972280 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 87966917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072539] [ENSMUST00000101057] [ENSMUST00000113279] [ENSMUST00000197301]
AlphaFold P02664
Predicted Effect probably benign
Transcript: ENSMUST00000072539
SMART Domains Protein: ENSMUSP00000072352
Gene: ENSMUSG00000061388

DomainStartEndE-ValueType
Pfam:Casein 58 136 4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101057
Predicted Effect probably benign
Transcript: ENSMUST00000113279
SMART Domains Protein: ENSMUSP00000108904
Gene: ENSMUSG00000061388

DomainStartEndE-ValueType
Pfam:Casein 55 133 5.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197301
SMART Domains Protein: ENSMUSP00000142449
Gene: ENSMUSG00000061388

DomainStartEndE-ValueType
Pfam:Casein 45 127 7.2e-15 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,234,576 (GRCm39) I646V possibly damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Caskin2 T C 11: 115,695,623 (GRCm39) D246G probably damaging Het
Ctsa T A 2: 164,677,152 (GRCm39) probably null Het
Cyp2j8 G A 4: 96,389,450 (GRCm39) probably benign Het
Dach2 T C X: 112,729,664 (GRCm39) I417T possibly damaging Het
Dcaf8l A T X: 88,448,327 (GRCm39) Y601N probably benign Het
Dhx9 T C 1: 153,341,452 (GRCm39) K599E possibly damaging Het
Duox2 A G 2: 122,111,554 (GRCm39) probably benign Het
F2rl3 T C 8: 73,489,840 (GRCm39) S356P probably damaging Het
Fem1b T C 9: 62,703,836 (GRCm39) I475V probably benign Het
Glra3 A G 8: 56,578,244 (GRCm39) R434G possibly damaging Het
Gpr75 T A 11: 30,841,709 (GRCm39) S205T possibly damaging Het
Hsd17b12 C T 2: 93,864,303 (GRCm39) R268Q probably benign Het
Htt T C 5: 34,961,875 (GRCm39) S287P probably benign Het
Ifi27l2b T C 12: 103,417,594 (GRCm39) T198A unknown Het
Kdm5d T C Y: 900,558 (GRCm39) V201A possibly damaging Het
Khdrbs2 C A 1: 32,558,858 (GRCm39) R408L probably damaging Het
Lonp1 A G 17: 56,933,488 (GRCm39) I129T possibly damaging Het
Macc1 T C 12: 119,411,368 (GRCm39) F712S probably damaging Het
Mcpt8 A T 14: 56,321,398 (GRCm39) I22K probably damaging Het
Nop2 G A 6: 125,109,164 (GRCm39) probably benign Het
Or10ag53 A T 2: 87,083,135 (GRCm39) T285S possibly damaging Het
Or2l13 A G 16: 19,305,765 (GRCm39) Y59C probably damaging Het
Or2y3 G A 17: 38,392,903 (GRCm39) probably null Het
Pkd1l1 T A 11: 8,923,021 (GRCm39) D82V unknown Het
Polr2a A T 11: 69,626,536 (GRCm39) S1566T possibly damaging Het
Ppwd1 C T 13: 104,350,198 (GRCm39) E396K possibly damaging Het
Prr30 A G 14: 101,436,425 (GRCm39) S46P probably benign Het
Pthlh A T 6: 147,164,789 (GRCm39) V27E probably damaging Het
Ptpn4 A G 1: 119,693,153 (GRCm39) probably null Het
Rad18 A T 6: 112,658,307 (GRCm39) D199E probably benign Het
Ralgps1 T C 2: 33,048,968 (GRCm39) T314A possibly damaging Het
Rbm27 A G 18: 42,460,230 (GRCm39) E764G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Taf15 G A 11: 83,395,154 (GRCm39) probably null Het
Tas2r140 T A 6: 133,032,204 (GRCm39) I185L probably benign Het
Tgfbr2 G A 9: 115,939,137 (GRCm39) T230M possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Togaram1 G T 12: 65,013,118 (GRCm39) R123L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim9 C T 12: 70,295,167 (GRCm39) G648R probably damaging Het
Upf1 A G 8: 70,790,133 (GRCm39) probably benign Het
Vmn2r109 C T 17: 20,761,248 (GRCm39) C703Y probably damaging Het
Zfp574 G T 7: 24,781,026 (GRCm39) A683S possibly damaging Het
Zfp777 A G 6: 48,006,050 (GRCm39) probably benign Het
Other mutations in Csn1s2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Csn1s2b APN 5 87,968,810 (GRCm39) nonsense probably null
IGL01704:Csn1s2b APN 5 87,960,970 (GRCm39) missense probably damaging 1.00
IGL01785:Csn1s2b APN 5 87,957,772 (GRCm39) missense possibly damaging 0.91
IGL02689:Csn1s2b APN 5 87,957,780 (GRCm39) missense probably benign 0.41
R1596:Csn1s2b UTSW 5 87,966,917 (GRCm39) splice site probably benign
R1649:Csn1s2b UTSW 5 87,966,943 (GRCm39) missense probably benign 0.07
R1682:Csn1s2b UTSW 5 87,970,162 (GRCm39) missense probably damaging 0.98
R1747:Csn1s2b UTSW 5 87,964,529 (GRCm39) splice site probably benign
R4667:Csn1s2b UTSW 5 87,970,170 (GRCm39) missense possibly damaging 0.53
R4781:Csn1s2b UTSW 5 87,966,952 (GRCm39) missense possibly damaging 0.77
R4965:Csn1s2b UTSW 5 87,961,820 (GRCm39) missense possibly damaging 0.81
R6013:Csn1s2b UTSW 5 87,972,098 (GRCm39) splice site probably null
R6730:Csn1s2b UTSW 5 87,970,127 (GRCm39) missense probably benign 0.00
R8028:Csn1s2b UTSW 5 87,966,951 (GRCm39) missense probably benign 0.01
R9651:Csn1s2b UTSW 5 87,968,820 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CCCATGTGTCAGGAATGATAGAGAC -3'
(R):5'- TGTTTAAATCTGAGCCACCCC -3'

Sequencing Primer
(F):5'- GTGTCAGGAATGATAGAGACATTTC -3'
(R):5'- AAATCTGAGCCACCCCCTTTC -3'
Posted On 2015-02-05