Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01588:Csn2'

91509

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 #

IGL01588

Quality Score

Status

Chromosome

Chromosomal Location

87840478-87847288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87842508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 165 (H165R)

Ref Sequence

ENSEMBL: ENSMUSP00000142673 (fasta)

Gene Model

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

AlphaFold

P10598

Predicted Effect

probably benign
Transcript: ENSMUST00000082370
AA Change: H172R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080976
Gene: ENSMUSG00000063157
AA Change: H172R

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: H165R

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142673
Gene: ENSMUSG00000063157
AA Change: H165R

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: H157R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142971
Gene: ENSMUSG00000063157
AA Change: H157R

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: H173R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143341
Gene: ENSMUSG00000063157
AA Change: H173R

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: ENSMUST00000199624
AA Change: H173R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143409
Gene: ENSMUSG00000063157
AA Change: H173R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198057
AA Change: H172R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143709
Gene: ENSMUSG00000063157
AA Change: H172R

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Casein	141	220	4.2e-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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	A	1: 139,405,900 (GRCm39)	S1596T	probably benign	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Dido1	A	G	2: 180,330,668 (GRCm39)	V260A	probably benign	Het
Ece1	C	T	4: 137,684,517 (GRCm39)		probably benign	Het
Garem1	T	G	18: 21,262,854 (GRCm39)	R653S	probably damaging	Het
Gpatch2	A	T	1: 186,962,991 (GRCm39)	S261C	probably damaging	Het
Ing4	A	G	6: 125,020,949 (GRCm39)	N24D	possibly damaging	Het
Klhdc7a	A	T	4: 139,694,257 (GRCm39)	V230D	probably damaging	Het
Ly96	G	A	1: 16,779,678 (GRCm39)	V116I	probably benign	Het
Myom1	C	T	17: 71,424,432 (GRCm39)	T1427M	possibly damaging	Het
Nedd1	C	A	10: 92,522,124 (GRCm39)	V638L	probably benign	Het
Or52d3	C	T	7: 104,229,150 (GRCm39)	S99F	probably damaging	Het
Or5d35	T	C	2: 87,855,417 (GRCm39)	V117A	probably benign	Het
Or8g30	G	A	9: 39,230,128 (GRCm39)	Q261*	probably null	Het
Pbx2	T	C	17: 34,814,592 (GRCm39)		probably benign	Het
Phlpp1	A	T	1: 106,308,119 (GRCm39)	H1132L	probably damaging	Het
Plpp5	T	A	8: 26,214,195 (GRCm39)	H237Q	probably damaging	Het
Stard13	C	T	5: 150,968,702 (GRCm39)	R856H	probably damaging	Het
Sult1e1	T	C	5: 87,724,102 (GRCm39)	K285R	probably benign	Het
Ubxn8	C	T	8: 34,111,587 (GRCm39)	V269M	probably damaging	Het
Usp29	A	T	7: 6,965,610 (GRCm39)	K484N	probably benign	Het
Whrn	C	T	4: 63,391,015 (GRCm39)	V80M	probably damaging	Het
Znhit6	A	G	3: 145,301,962 (GRCm39)		probably benign	Het

Other mutations in Csn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2013-12-09