Incidental Mutation 'IGL02034:Csn2'
ID184472
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: 0.012) question?
Stock #IGL02034
Quality Score
Status
Chromosome5
Chromosomal Location87692624-87699630 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 87696082 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A G 19: 29,716,859 S1745P possibly damaging Het
Bcor A G X: 12,039,259 S1556P possibly damaging Het
Ccdc6 T A 10: 70,169,148 I241N probably benign Het
Cd81 T C 7: 143,066,249 I48T probably damaging Het
Cfap52 A G 11: 67,946,292 probably null Het
Cfap54 T C 10: 93,061,485 M264V probably damaging Het
Cmya5 G A 13: 93,084,535 probably benign Het
Cyfip1 G A 7: 55,898,353 R567Q probably damaging Het
Ehbp1 A G 11: 22,285,486 probably null Het
Ermp1 G A 19: 29,645,959 probably benign Het
Erv3 C T 2: 131,856,014 V142I possibly damaging Het
Fzd2 A G 11: 102,604,904 N58S probably damaging Het
Gcm2 G A 13: 41,105,793 R67C probably damaging Het
Gm17019 A G 5: 15,030,252 I182T possibly damaging Het
Gpr45 T C 1: 43,033,318 *374Q probably null Het
Haus8 T C 8: 71,255,558 N165S probably damaging Het
Hoxd4 T A 2: 74,728,406 L191Q probably damaging Het
I830077J02Rik A G 3: 105,927,249 probably benign Het
Lpl T C 8: 68,880,772 L7P possibly damaging Het
Lrp1b T A 2: 41,268,370 K1612* probably null Het
Myh14 G T 7: 44,616,293 A1546D possibly damaging Het
Nbea A G 3: 55,968,156 S1698P probably damaging Het
Olfr1217 C T 2: 89,023,671 V111M probably benign Het
Olfr470 G A 7: 107,845,178 T185I probably benign Het
Olfr676 C A 7: 105,035,390 T64N probably benign Het
Olfr9 A T 10: 128,990,701 Q263L probably benign Het
Otog A T 7: 46,295,993 K40* probably null Het
Rgma C A 7: 73,417,433 H145Q probably damaging Het
Rpgrip1l A T 8: 91,251,148 probably null Het
Ssxb2 T A X: 8,458,504 probably benign Het
Tmem175 C T 5: 108,642,136 T118I probably damaging Het
Wdhd1 A G 14: 47,261,351 V542A probably benign Het
Zfp977 G A 7: 42,580,712 P130S probably damaging Het
Other mutations in Csn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Csn2 APN 5 87694773 missense probably benign 0.01
IGL01458:Csn2 APN 5 87696020 splice site probably benign
IGL01526:Csn2 APN 5 87694979 missense possibly damaging 0.92
IGL01588:Csn2 APN 5 87694649 missense probably benign 0.08
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
Z1088:Csn2 UTSW 5 87696009 intron probably benign
Posted On2014-05-07