Incidental Mutation 'R3710:Csn3'
ID 259533
Institutional Source Beutler Lab
Gene Symbol Csn3
Ensembl Gene ENSMUSG00000001622
Gene Name casein kappa
Synonyms Csnk, CSN10
MMRRC Submission 040703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3710 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 88073438-88080409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88077882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 129 (N129K)
Ref Sequence ENSEMBL: ENSMUSP00000108896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001667] [ENSMUST00000113267] [ENSMUST00000113271]
AlphaFold P06796
Predicted Effect possibly damaging
Transcript: ENSMUST00000001667
AA Change: N129K

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000001667
Gene: ENSMUSG00000001622
AA Change: N129K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Casein_kappa 22 180 2.5e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113267
AA Change: N129K

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108892
Gene: ENSMUSG00000001622
AA Change: N129K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Casein_kappa 22 181 2.7e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113271
AA Change: N129K

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108896
Gene: ENSMUSG00000001622
AA Change: N129K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Casein_kappa 22 181 2.7e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190123
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display lactation failure and abnormal milk composition, but are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,597,384 (GRCm39) probably benign Het
Agbl2 G A 2: 90,636,152 (GRCm39) D563N probably benign Het
Aida C A 1: 183,085,610 (GRCm39) probably null Het
Ank1 A G 8: 23,577,095 (GRCm39) D200G probably damaging Het
Ankrd28 A G 14: 31,470,808 (GRCm39) probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atrnl1 C A 19: 57,645,546 (GRCm39) H469N probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bud23 A C 5: 135,085,204 (GRCm39) S41A possibly damaging Het
Car12 G T 9: 66,658,260 (GRCm39) A21S probably damaging Het
Cav3 T A 6: 112,436,774 (GRCm39) M1K probably null Het
Cdc42bpa A G 1: 179,892,628 (GRCm39) D264G probably damaging Het
Cic A G 7: 24,986,406 (GRCm39) D1276G probably damaging Het
Col2a1 A G 15: 97,888,788 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Diaph1 C A 18: 37,978,537 (GRCm39) G1209W probably damaging Het
Dsg2 A G 18: 20,735,174 (GRCm39) T1051A probably damaging Het
Gm1965 A T 6: 89,122,407 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsto1 T C 19: 47,847,971 (GRCm39) probably null Het
Il15ra G T 2: 11,735,458 (GRCm39) probably null Het
Ipo8 A T 6: 148,707,842 (GRCm39) probably null Het
Lsm14a T A 7: 34,053,204 (GRCm39) I283F probably damaging Het
Mael T C 1: 166,066,135 (GRCm39) D34G probably damaging Het
Marchf6 A T 15: 31,509,972 (GRCm39) probably benign Het
Mtmr10 C A 7: 63,976,433 (GRCm39) A410D possibly damaging Het
Myh9 T C 15: 77,657,547 (GRCm39) E1066G possibly damaging Het
Nim1k A G 13: 120,173,635 (GRCm39) S420P probably benign Het
Nlrp4c T A 7: 6,068,627 (GRCm39) V176E probably damaging Het
Ogfod1 A T 8: 94,784,380 (GRCm39) K313* probably null Het
Or5an1 T G 19: 12,260,450 (GRCm39) F13V probably damaging Het
Osbpl10 C A 9: 115,036,655 (GRCm39) P253Q probably benign Het
Otof A T 5: 30,542,610 (GRCm39) M661K probably benign Het
Rbms2 C T 10: 127,979,312 (GRCm39) R139Q probably damaging Het
Rimbp2 G A 5: 128,866,795 (GRCm39) T508I probably benign Het
Ros1 A T 10: 52,037,991 (GRCm39) C393* probably null Het
Rps17 T A 7: 80,994,672 (GRCm39) T30S probably benign Het
Rps3 T C 7: 99,128,626 (GRCm39) K197R probably benign Het
Samd11 G A 4: 156,334,952 (GRCm39) L109F probably damaging Het
Smarca2 T G 19: 26,646,290 (GRCm39) probably benign Het
Sprr2g C A 3: 92,282,036 (GRCm39) P30Q unknown Het
Spz1 G A 13: 92,711,631 (GRCm39) Q282* probably null Het
Syne3 A G 12: 104,909,697 (GRCm39) L713P possibly damaging Het
Tgm1 C A 14: 55,950,052 (GRCm39) probably benign Het
Tomm22 T C 15: 79,555,419 (GRCm39) F55L probably damaging Het
Tph2 T A 10: 115,009,963 (GRCm39) Y199F probably benign Het
Vmn2r108 A T 17: 20,682,932 (GRCm39) F757L probably benign Het
Vmn2r69 T A 7: 85,055,601 (GRCm39) T846S probably benign Het
Was G T X: 7,952,927 (GRCm39) S271R probably benign Het
Zc3hav1 A C 6: 38,309,097 (GRCm39) M575R probably benign Het
Other mutations in Csn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Csn3 APN 5 88,078,016 (GRCm39) missense unknown
IGL02153:Csn3 APN 5 88,077,956 (GRCm39) missense possibly damaging 0.80
IGL02936:Csn3 APN 5 88,077,992 (GRCm39) missense possibly damaging 0.93
R0617:Csn3 UTSW 5 88,077,730 (GRCm39) missense probably benign 0.18
R1502:Csn3 UTSW 5 88,077,983 (GRCm39) missense probably damaging 0.98
R2329:Csn3 UTSW 5 88,077,862 (GRCm39) missense possibly damaging 0.95
R4514:Csn3 UTSW 5 88,077,997 (GRCm39) missense unknown
R5079:Csn3 UTSW 5 88,077,626 (GRCm39) missense possibly damaging 0.92
R5233:Csn3 UTSW 5 88,077,694 (GRCm39) missense probably benign 0.13
R5573:Csn3 UTSW 5 88,077,910 (GRCm39) missense probably benign
R5913:Csn3 UTSW 5 88,075,470 (GRCm39) missense probably damaging 0.99
R7175:Csn3 UTSW 5 88,077,586 (GRCm39) missense probably damaging 0.98
R7577:Csn3 UTSW 5 88,077,821 (GRCm39) missense not run
R8953:Csn3 UTSW 5 88,077,809 (GRCm39) missense possibly damaging 0.85
R9422:Csn3 UTSW 5 88,077,872 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CTTTGCCTGCTACTGCTAGC -3'
(R):5'- ACCCAGATTGTTCATTTTACTTTTGC -3'

Sequencing Primer
(F):5'- GCTACTGCTAGCCCATACATG -3'
(R):5'- TTGTCTTTTTCAATGTTTCCTTAGTG -3'
Posted On 2015-01-23