Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00507:Csn2'

5597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csn2

Ensembl Gene

ENSMUSG00000063157

Gene Name

casein beta

Synonyms

CSN2, Csnb

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL00507

Quality Score

Status

Chromosome

Chromosomal Location

87840478-87847288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87842632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 116 (S116P)

Ref Sequence

ENSEMBL: ENSMUSP00000142971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082370] [ENSMUST00000196163] [ENSMUST00000196869] [ENSMUST00000197422] [ENSMUST00000198057] [ENSMUST00000199624]

AlphaFold

P10598

Predicted Effect

probably benign
Transcript: ENSMUST00000082370
AA Change: S131P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080976
Gene: ENSMUSG00000063157
AA Change: S131P

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Casein	142	221	1.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196163
AA Change: S124P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142673
Gene: ENSMUSG00000063157
AA Change: S124P

Domain	Start	End	E-Value	Type
Pfam:Casein	134	215	1.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196664

Predicted Effect

probably benign
Transcript: ENSMUST00000196869
AA Change: S116P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142971
Gene: ENSMUSG00000063157
AA Change: S116P

Domain	Start	End	E-Value	Type
Pfam:Casein	126	207	3.2e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197281

Predicted Effect

probably benign
Transcript: ENSMUST00000197422
AA Change: S132P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143341
Gene: ENSMUSG00000063157
AA Change: S132P

Domain	Start	End	E-Value	Type
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
AA Change: S131P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143709
Gene: ENSMUSG00000063157
AA Change: S131P

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Casein	141	220	4.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199624
AA Change: S132P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143409
Gene: ENSMUSG00000063157
AA Change: S132P

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Casein	142	223	4.8e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199716

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	T	9: 54,529,712 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,796 (GRCm39)	R1450S	possibly damaging	Het
Apc	A	G	18: 34,449,979 (GRCm39)	I2258V	probably benign	Het
Atxn2l	C	A	7: 126,095,756 (GRCm39)	A374S	possibly damaging	Het
Cacna1a	T	A	8: 85,297,837 (GRCm39)	Y1182*	probably null	Het
Cc2d1b	G	T	4: 108,486,927 (GRCm39)	A647S	probably damaging	Het
Eya4	G	A	10: 23,033,434 (GRCm39)	Q163*	probably null	Het
Fam47c	A	T	X: 77,781,931 (GRCm39)	D171V	probably benign	Het
Fhdc1	A	T	3: 84,356,107 (GRCm39)	C446S	probably damaging	Het
Fkbp9	T	A	6: 56,827,686 (GRCm39)	V169E	probably damaging	Het
Fras1	A	T	5: 96,926,048 (GRCm39)	I3751F	probably damaging	Het
Gkn1	T	C	6: 87,323,321 (GRCm39)	Y164C	probably damaging	Het
Hs3st5	T	C	10: 36,708,918 (GRCm39)	I151T	probably benign	Het
Ighv8-6	A	T	12: 115,129,472 (GRCm39)	S95T	probably damaging	Het
Loxhd1	A	G	18: 77,420,263 (GRCm39)	I296V	probably benign	Het
Lrrc66	T	C	5: 73,764,457 (GRCm39)	E862G	probably benign	Het
Ltbp3	T	C	19: 5,806,044 (GRCm39)	V934A	probably damaging	Het
Mpp3	A	T	11: 101,892,929 (GRCm39)	I501K	possibly damaging	Het
Mroh2b	C	T	15: 4,991,609 (GRCm39)	T1569I	probably damaging	Het
Nup133	A	T	8: 124,645,706 (GRCm39)	Y626*	probably null	Het
Pak3	T	A	X: 142,572,329 (GRCm39)	N477K	probably damaging	Het
Plod3	A	G	5: 137,025,030 (GRCm39)	H714R	possibly damaging	Het
Ppil1	T	C	17: 29,470,675 (GRCm39)	N102S	probably damaging	Het
Rapgef6	A	T	11: 54,554,935 (GRCm39)	R996*	probably null	Het
Scd3	G	A	19: 44,224,273 (GRCm39)	D169N	probably damaging	Het
Sgo2a	T	A	1: 58,055,753 (GRCm39)	F646I	probably damaging	Het
Slc5a8	A	G	10: 88,743,902 (GRCm39)	Y346C	possibly damaging	Het
Slc7a15	A	T	12: 8,585,474 (GRCm39)	V49E	probably damaging	Het
Stard8	G	A	X: 98,112,941 (GRCm39)	E649K	probably damaging	Het

Other mutations in Csn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9165:Csn2	UTSW	5	87,842,418 (GRCm39)	missense	possibly damaging	0.71
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

Posted On

2012-04-20