Incidental Mutation 'IGL01458:Csn2'
ID84897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csn2
Ensembl Gene ENSMUSG00000063157
Gene Namecasein beta
SynonymsCsnb, CSN2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01458
Quality Score
Status
Chromosome5
Chromosomal Location87692624-87699630 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 87696020 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082370] [ENSMUST00000196163] [ENSMUST00000196869] [ENSMUST00000197422] [ENSMUST00000198057] [ENSMUST00000199624]
Predicted Effect probably benign
Transcript: ENSMUST00000082370
SMART Domains Protein: ENSMUSP00000080976
Gene: ENSMUSG00000063157

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Casein 142 221 1.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196163
SMART Domains Protein: ENSMUSP00000142673
Gene: ENSMUSG00000063157

DomainStartEndE-ValueType
Pfam:Casein 134 215 1.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196664
Predicted Effect probably benign
Transcript: ENSMUST00000196869
SMART Domains Protein: ENSMUSP00000142971
Gene: ENSMUSG00000063157

DomainStartEndE-ValueType
Pfam:Casein 126 207 3.2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197281
Predicted Effect probably benign
Transcript: ENSMUST00000197422
SMART Domains Protein: ENSMUSP00000143341
Gene: ENSMUSG00000063157

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Casein 142 223 4.8e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197687
Predicted Effect probably benign
Transcript: ENSMUST00000198057
SMART Domains Protein: ENSMUSP00000143709
Gene: ENSMUSG00000063157

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Casein 141 220 4.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199624
SMART Domains Protein: ENSMUSP00000143409
Gene: ENSMUSG00000063157

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Casein 142 223 4.8e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200627
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik A T 9: 3,134,008 noncoding transcript Het
Akap12 A G 10: 4,354,060 E290G probably damaging Het
Akap6 T A 12: 52,886,818 C364* probably null Het
Akr1c18 A T 13: 4,137,144 Y198N probably damaging Het
Aurka T C 2: 172,368,979 probably benign Het
Bloc1s6 T A 2: 122,744,215 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Dsc1 T C 18: 20,099,138 E271G probably damaging Het
Evi5 G A 5: 107,815,647 A354V probably damaging Het
Fcer2a T A 8: 3,688,151 R137S probably benign Het
Fto A G 8: 91,441,716 T266A probably benign Het
Fzd4 G A 7: 89,404,735 V17I unknown Het
Gadd45b T C 10: 80,931,241 L105P probably damaging Het
Galntl6 T C 8: 58,427,709 S137G probably damaging Het
Gm2022 A T 12: 87,895,388 K7* probably null Het
Gm5771 T G 6: 41,396,687 D161E probably benign Het
Gpr135 T C 12: 72,069,668 M442V probably benign Het
Kcnq1 T A 7: 143,194,278 Y330* probably null Het
Kdm5b A G 1: 134,621,986 R1106G possibly damaging Het
Lrrc8e C T 8: 4,236,141 R789W probably damaging Het
Myo16 T C 8: 10,435,853 L644P probably damaging Het
Nbeal1 G T 1: 60,242,625 probably null Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1118 C T 2: 87,309,482 T251I probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr389 A T 11: 73,776,706 I207N probably benign Het
Ovgp1 A G 3: 105,974,991 N70D probably benign Het
Panx3 A T 9: 37,661,147 M369K probably damaging Het
Plet1 A G 9: 50,494,717 N52S probably benign Het
Psg18 A T 7: 18,354,816 M1K probably null Het
Ptprz1 A T 6: 22,972,844 D251V probably damaging Het
Serpinb6a A G 13: 33,930,081 Y88H possibly damaging Het
Siglecf G A 7: 43,355,138 R297Q possibly damaging Het
Tbx15 T C 3: 99,316,228 V244A probably damaging Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Trim39 A G 17: 36,263,963 probably benign Het
Vps37c T C 19: 10,710,417 C81R probably damaging Het
Wdr62 A T 7: 30,241,762 S744T probably benign Het
Zyg11a G A 4: 108,204,902 T234I probably damaging Het
Other mutations in Csn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Csn2 APN 5 87694773 missense probably benign 0.01
IGL01526:Csn2 APN 5 87694979 missense possibly damaging 0.92
IGL01588:Csn2 APN 5 87694649 missense probably benign 0.08
IGL02034:Csn2 APN 5 87696082 splice site probably benign
IGL02277:Csn2 APN 5 87698022 splice site probably benign
IGL03267:Csn2 APN 5 87698071 missense possibly damaging 0.85
R0730:Csn2 UTSW 5 87694952 missense possibly damaging 0.85
R1055:Csn2 UTSW 5 87694737 missense possibly damaging 0.93
R1488:Csn2 UTSW 5 87694896 nonsense probably null
R2076:Csn2 UTSW 5 87696174 missense probably damaging 0.99
R4039:Csn2 UTSW 5 87698076 start codon destroyed probably null 0.33
R4322:Csn2 UTSW 5 87698027 critical splice donor site probably null
R5207:Csn2 UTSW 5 87694962 nonsense probably null
R5362:Csn2 UTSW 5 87694649 missense probably benign 0.01
R6191:Csn2 UTSW 5 87696026 critical splice donor site probably null
R6600:Csn2 UTSW 5 87694632 missense probably benign 0.25
R7983:Csn2 UTSW 5 87694497 missense probably benign 0.14
R8054:Csn2 UTSW 5 87698027 critical splice donor site probably null
Z1088:Csn2 UTSW 5 87696009 intron probably benign
Posted On2013-11-11