Mutagenetix > Incidental Mutation

Incidental Mutation 'R6600:Csn2'

525181

Institutional Source

Beutler Lab

Gene Symbol

Csn2

Ensembl Gene

ENSMUSG00000063157

Gene Name

casein beta

Synonyms

CSN2, Csnb

MMRRC Submission

044724-MU

Accession Numbers

Essential gene?

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

Stock #

R6600 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87840478-87847288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87842491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 171 (T171A)

Ref Sequence

ENSEMBL: ENSMUSP00000142673 (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: T178A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080976
Gene: ENSMUSG00000063157
AA Change: T178A

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: T171A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142673
Gene: ENSMUSG00000063157
AA Change: T171A

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: T163A

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

SMART Domains

Protein: ENSMUSP00000142971
Gene: ENSMUSG00000063157
AA Change: T163A

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: T179A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143341
Gene: ENSMUSG00000063157
AA Change: T179A

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

noncoding transcript
Transcript: ENSMUST00000199716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200627

Predicted Effect

probably benign
Transcript: ENSMUST00000198057
AA Change: T178A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143709
Gene: ENSMUSG00000063157
AA Change: T178A

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: T179A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143409
Gene: ENSMUSG00000063157
AA Change: T179A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

100% (33/33)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	ACGC	ACGCGC	5: 138,645,710 (GRCm39)		probably null	Het
Adam1b	C	T	5: 121,639,530 (GRCm39)	C505Y	probably damaging	Het
Adam24	C	A	8: 41,133,587 (GRCm39)	H352N	probably damaging	Het
Bcl6b	A	T	11: 70,119,954 (GRCm39)	L11Q	probably damaging	Het
C2cd5	A	T	6: 143,025,702 (GRCm39)	V165E	probably damaging	Het
Cacna1d	T	C	14: 29,836,192 (GRCm39)	N852S	probably benign	Het
Cd320	T	C	17: 34,066,591 (GRCm39)	C110R	probably damaging	Het
Cdk2ap1rt	A	C	11: 48,717,115 (GRCm39)	V21G	probably damaging	Het
Clasrp	T	A	7: 19,324,207 (GRCm39)	K223*	probably null	Het
Col5a1	C	A	2: 27,887,583 (GRCm39)	N951K	unknown	Het
Dse	A	G	10: 34,028,537 (GRCm39)	I851T	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxo24	T	A	5: 137,611,135 (GRCm39)	I413F	probably damaging	Het
Flywch2	C	A	17: 23,997,084 (GRCm39)	G109V	possibly damaging	Het
Fnip1	A	G	11: 54,393,925 (GRCm39)	D787G	probably benign	Het
Gramd1c	T	A	16: 43,860,482 (GRCm39)	R72*	probably null	Het
Hspd1	T	C	1: 55,117,777 (GRCm39)	I494V	probably benign	Het
Limch1	T	C	5: 66,903,281 (GRCm39)	V10A	probably benign	Het
Lrrfip1	C	T	1: 91,043,569 (GRCm39)	S658F	probably damaging	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nlrc3	A	G	16: 3,782,938 (GRCm39)	I157T	probably benign	Het
Or4a67	A	G	2: 88,598,101 (GRCm39)	V186A	probably benign	Het
Pdlim5	T	C	3: 141,965,039 (GRCm39)	R126G	probably damaging	Het
Pgm1	C	T	4: 99,824,259 (GRCm39)	R311*	probably null	Het
Ptcd3	T	C	6: 71,860,530 (GRCm39)	Y559C	probably damaging	Het
Robo1	T	C	16: 72,786,543 (GRCm39)	S852P	probably damaging	Het
Rps6kb2	A	T	19: 4,208,850 (GRCm39)	M259K	probably damaging	Het
Sema4b	T	C	7: 79,862,676 (GRCm39)	L84P	probably benign	Het
Slf1	A	C	13: 77,231,655 (GRCm39)	S575A	probably benign	Het
Tjap1	T	C	17: 46,570,924 (GRCm39)	N173S	probably damaging	Het
Trpm1	T	A	7: 63,803,781 (GRCm39)	M1K	probably null	Het
Ubr1	C	A	2: 120,745,880 (GRCm39)	K851N	probably benign	Het
Zfp568	C	A	7: 29,721,948 (GRCm39)	R298S	possibly damaging	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
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
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

Predicted Primers

Posted On

2018-06-22