Incidental Mutation 'R9165:Csn2'
ID 695979
Institutional Source Beutler Lab
Gene Symbol Csn2
Ensembl Gene ENSMUSG00000063157
Gene Name casein beta
Synonyms CSN2, Csnb
MMRRC Submission 068945-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R9165 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 87840478-87847288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87842418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 203 (M203K)
Ref Sequence ENSEMBL: ENSMUSP00000143341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082370] [ENSMUST00000196163] [ENSMUST00000196869] [ENSMUST00000197422] [ENSMUST00000198057] [ENSMUST00000199624]
AlphaFold P10598
Predicted Effect possibly damaging
Transcript: ENSMUST00000082370
AA Change: M202K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080976
Gene: ENSMUSG00000063157
AA Change: M202K

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Casein 142 221 1.5e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196163
AA Change: M195K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142673
Gene: ENSMUSG00000063157
AA Change: M195K

DomainStartEndE-ValueType
Pfam:Casein 134 215 1.7e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196869
AA Change: M187K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142971
Gene: ENSMUSG00000063157
AA Change: M187K

DomainStartEndE-ValueType
Pfam:Casein 126 207 3.2e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000197422
AA Change: M203K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143341
Gene: ENSMUSG00000063157
AA Change: M203K

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Casein 142 223 4.8e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000198057
AA Change: M202K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143709
Gene: ENSMUSG00000063157
AA Change: M202K

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Casein 141 220 4.2e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199624
AA Change: M203K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143409
Gene: ENSMUSG00000063157
AA Change: M203K

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Casein 142 223 4.8e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Female mice homozygous for disruption of this gene produce mile with a low protein content and poor nutritional value. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,348,357 (GRCm39) I27V probably benign Het
A2ml1 T A 6: 128,537,632 (GRCm39) H693L probably benign Het
Acacb A G 5: 114,354,744 (GRCm39) E1206G probably benign Het
Acoxl A G 2: 127,726,432 (GRCm39) T269A probably benign Het
Ak9 A G 10: 41,309,235 (GRCm39) K1879R unknown Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Bnc2 A T 4: 84,329,731 (GRCm39) L95Q Het
Bpifa2 G T 2: 153,851,741 (GRCm39) W59L probably benign Het
Cd209a T A 8: 3,795,602 (GRCm39) Q156H probably damaging Het
Cep104 T A 4: 154,078,971 (GRCm39) probably null Het
Cpt1c A G 7: 44,608,925 (GRCm39) *799R probably null Het
Dclre1a C G 19: 56,526,801 (GRCm39) A872P probably damaging Het
Dlg5 C A 14: 24,196,309 (GRCm39) L1629F probably damaging Het
Dmxl1 A G 18: 50,011,992 (GRCm39) D1383G probably damaging Het
Dnah6 A G 6: 73,121,924 (GRCm39) V1381A probably damaging Het
Dnttip2 G T 3: 122,070,355 (GRCm39) E523D probably benign Het
Dync2h1 A T 9: 7,114,883 (GRCm39) V2425D probably damaging Het
Eif1ad11 A G 12: 87,994,077 (GRCm39) S102G possibly damaging Het
Eif2a G A 3: 58,452,695 (GRCm39) R199Q probably damaging Het
F10 T C 8: 13,089,564 (GRCm39) F60L probably benign Het
Faf2 A G 13: 54,799,951 (GRCm39) I253V probably benign Het
Flt1 T A 5: 147,552,047 (GRCm39) S715C probably damaging Het
Garin4 A G 1: 190,895,258 (GRCm39) S462P probably benign Het
Gm5150 G T 3: 16,045,060 (GRCm39) T55K probably damaging Het
Gria1 T C 11: 57,076,759 (GRCm39) F121L possibly damaging Het
Gucy2d A G 7: 98,103,271 (GRCm39) Q505R probably benign Het
Gzma A T 13: 113,237,455 (GRCm39) S11T probably benign Het
Hoxa6 G A 6: 52,185,535 (GRCm39) Q24* probably null Het
Kcnj14 T A 7: 45,469,068 (GRCm39) I146L possibly damaging Het
Kiss1r G A 10: 79,756,605 (GRCm39) R149H probably damaging Het
Lama2 A G 10: 26,929,022 (GRCm39) probably null Het
Lama5 C A 2: 179,821,286 (GRCm39) R3092L probably damaging Het
Lca5l T A 16: 95,977,218 (GRCm39) N196I probably damaging Het
Lig4 A G 8: 10,022,394 (GRCm39) L462S probably damaging Het
Nbea A T 3: 55,912,289 (GRCm39) V1166E probably benign Het
Nr2c1 T A 10: 94,017,465 (GRCm39) F401Y probably benign Het
Or10ak12 T A 4: 118,666,195 (GRCm39) R289* probably null Het
Or14c43 A T 7: 86,114,825 (GRCm39) M69L probably benign Het
Or4e5 A G 14: 52,727,830 (GRCm39) I197T possibly damaging Het
Or5an9 A T 19: 12,187,286 (GRCm39) M119L probably damaging Het
Otop3 A C 11: 115,235,424 (GRCm39) Y352S possibly damaging Het
Plekha6 T G 1: 133,200,375 (GRCm39) L318R probably damaging Het
Pm20d1 G T 1: 131,743,825 (GRCm39) V497F possibly damaging Het
Pnma2 G A 14: 67,154,572 (GRCm39) R332H probably damaging Het
Ppip5k1 C A 2: 121,162,045 (GRCm39) G1013C probably damaging Het
Prdm13 C G 4: 21,679,659 (GRCm39) R277P unknown Het
Prdm2 A G 4: 142,858,674 (GRCm39) S1539P possibly damaging Het
Ptger2 A G 14: 45,227,235 (GRCm39) T272A probably damaging Het
Qser1 T C 2: 104,618,815 (GRCm39) T576A probably benign Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Sacm1l G T 9: 123,398,021 (GRCm39) V238L probably damaging Het
Sanbr T C 11: 23,565,244 (GRCm39) I248V probably benign Het
Sec16a C T 2: 26,313,645 (GRCm39) G454D Het
Sil1 A G 18: 35,450,899 (GRCm39) S259P possibly damaging Het
Sirpb1b A G 3: 15,639,964 (GRCm39) L16P probably damaging Het
Slc22a20 A T 19: 6,032,879 (GRCm39) V262D probably damaging Het
Slc4a9 G T 18: 36,666,676 (GRCm39) R580L probably benign Het
Ssr3 A G 3: 65,290,521 (GRCm39) V128A probably damaging Het
Stpg2 G T 3: 139,014,993 (GRCm39) S386I possibly damaging Het
Taar8c C A 10: 23,977,500 (GRCm39) C104F probably damaging Het
Tex2 T C 11: 106,458,095 (GRCm39) E445G unknown Het
Tmem253 A C 14: 52,256,099 (GRCm39) D126A probably benign Het
Tox4 A G 14: 52,523,247 (GRCm39) Q69R possibly damaging Het
Tpi1 T A 6: 124,788,501 (GRCm39) S254C probably benign Het
Trmt12 T G 15: 58,745,594 (GRCm39) S331A probably benign Het
Ttn A G 2: 76,543,350 (GRCm39) V33212A probably damaging Het
Tubb4a C T 17: 57,387,734 (GRCm39) E431K unknown Het
Ugt1a10 A T 1: 87,983,509 (GRCm39) E102D probably benign Het
Unc80 A T 1: 66,589,000 (GRCm39) E1055V probably null Het
Vav1 C A 17: 57,618,895 (GRCm39) S708R probably damaging Het
Vmn1r20 A G 6: 57,409,246 (GRCm39) M191V probably damaging Het
Vmn1r37 A T 6: 66,709,054 (GRCm39) T227S probably damaging Het
Vmn1r72 C A 7: 11,412,951 (GRCm39) probably benign Het
Vps33b G A 7: 79,924,434 (GRCm39) probably null Het
Vrtn T A 12: 84,697,251 (GRCm39) L667Q probably benign Het
Xirp1 G A 9: 119,847,302 (GRCm39) T527M probably benign Het
Ylpm1 T A 12: 85,077,342 (GRCm39) Y1356N probably damaging Het
Zfp980 A T 4: 145,428,024 (GRCm39) Y251F possibly damaging Het
Zmym2 A T 14: 57,185,464 (GRCm39) Y1032F probably damaging Het
Other mutations in Csn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Csn2 APN 5 87,842,632 (GRCm39) missense probably benign 0.01
IGL01458:Csn2 APN 5 87,843,879 (GRCm39) splice site probably benign
IGL01526:Csn2 APN 5 87,842,838 (GRCm39) missense possibly damaging 0.92
IGL01588:Csn2 APN 5 87,842,508 (GRCm39) missense probably benign 0.08
IGL02034:Csn2 APN 5 87,843,941 (GRCm39) splice site probably benign
IGL02277:Csn2 APN 5 87,845,881 (GRCm39) splice site probably benign
IGL03267:Csn2 APN 5 87,845,930 (GRCm39) missense possibly damaging 0.85
R0730:Csn2 UTSW 5 87,842,811 (GRCm39) missense possibly damaging 0.85
R1055:Csn2 UTSW 5 87,842,596 (GRCm39) missense possibly damaging 0.93
R1488:Csn2 UTSW 5 87,842,755 (GRCm39) nonsense probably null
R2076:Csn2 UTSW 5 87,844,033 (GRCm39) missense probably damaging 0.99
R4039:Csn2 UTSW 5 87,845,935 (GRCm39) start codon destroyed probably null 0.33
R4322:Csn2 UTSW 5 87,845,886 (GRCm39) critical splice donor site probably null
R5207:Csn2 UTSW 5 87,842,821 (GRCm39) nonsense probably null
R5362:Csn2 UTSW 5 87,842,508 (GRCm39) missense probably benign 0.01
R6191:Csn2 UTSW 5 87,843,885 (GRCm39) critical splice donor site probably null
R6600:Csn2 UTSW 5 87,842,491 (GRCm39) missense probably benign 0.25
R7983:Csn2 UTSW 5 87,842,356 (GRCm39) missense probably benign 0.14
R8054:Csn2 UTSW 5 87,845,886 (GRCm39) critical splice donor site probably null
R9561:Csn2 UTSW 5 87,842,794 (GRCm39) missense probably benign 0.44
R9785:Csn2 UTSW 5 87,842,502 (GRCm39) missense possibly damaging 0.80
Z1088:Csn2 UTSW 5 87,843,868 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TAACTAGGCAGTAGGCGCTG -3'
(R):5'- GCCAGTCTTGCTAATCTGCAC -3'

Sequencing Primer
(F):5'- TAGGCGCTGGGAATTAGATTTAAATG -3'
(R):5'- GCTAATCTGCACCTTCCTCAG -3'
Posted On 2022-02-07