Mutagenetix > Incidental Mutation

Incidental Mutation 'R9561:Csn2'

720994

Institutional Source

Beutler Lab

Gene Symbol

Csn2

Ensembl Gene

ENSMUSG00000063157

Gene Name

casein beta

Synonyms

CSN2, Csnb

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87840478-87847288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87842794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 78 (A78T)

Ref Sequence

ENSEMBL: ENSMUSP00000143341 (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: A77T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080976
Gene: ENSMUSG00000063157
AA Change: A77T

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: A70T

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142673
Gene: ENSMUSG00000063157
AA Change: A70T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196869
AA Change: A62T

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142971
Gene: ENSMUSG00000063157
AA Change: A62T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197422
AA Change: A78T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143341
Gene: ENSMUSG00000063157
AA Change: A78T

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: A77T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143709
Gene: ENSMUSG00000063157
AA Change: A77T

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: A78T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143409
Gene: ENSMUSG00000063157
AA Change: A78T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,680,980 (GRCm39)	I106V	possibly damaging	Het
Aars1	C	A	8: 111,763,615 (GRCm39)	F18L	probably damaging	Het
Abca7	C	T	10: 79,837,535 (GRCm39)	T473I	probably damaging	Het
Ap1m2	A	T	9: 21,209,524 (GRCm39)	I384N	probably damaging	Het
Atg16l2	G	A	7: 100,948,248 (GRCm39)	Q99*	probably null	Het
Bptf	A	T	11: 106,964,954 (GRCm39)	Y1413*	probably null	Het
Cat	T	C	2: 103,307,250 (GRCm39)	T28A	probably damaging	Het
Ccdc65	T	A	15: 98,620,759 (GRCm39)	V418D	probably benign	Het
Cd226	A	C	18: 89,265,444 (GRCm39)	I241L	probably benign	Het
Crybg1	A	G	10: 43,873,428 (GRCm39)	S1227P	probably benign	Het
Cyp21a1	T	A	17: 35,021,652 (GRCm39)	H305L	possibly damaging	Het
Ddx55	A	G	5: 124,706,707 (GRCm39)	E572G	possibly damaging	Het
Dguok	A	G	6: 83,467,548 (GRCm39)	Y100H	probably damaging	Het
Dync1h1	T	A	12: 110,615,533 (GRCm39)	S2955R	probably damaging	Het
Etfbkmt	A	T	6: 149,045,640 (GRCm39)		probably benign	Het
Fam222a	T	A	5: 114,749,347 (GRCm39)	I181N	probably damaging	Het
Fam24b	T	C	7: 130,927,877 (GRCm39)	D104G	probably benign	Het
Fbn2	A	T	18: 58,181,611 (GRCm39)	C1883*	probably null	Het
Fchsd2	T	G	7: 100,920,778 (GRCm39)	L461R	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Hectd4	G	A	5: 121,472,532 (GRCm39)	R2756Q	possibly damaging	Het
Ints14	A	G	9: 64,882,932 (GRCm39)	D261G	probably damaging	Het
Mapkapk5	C	T	5: 121,672,490 (GRCm39)	A163T	probably benign	Het
Micu3	A	T	8: 40,835,156 (GRCm39)	K504*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh7	C	A	14: 55,216,146 (GRCm39)	R1289L	probably damaging	Het
Neb	G	T	2: 52,132,068 (GRCm39)	H280Q		Het
Nrbp1	T	A	5: 31,404,771 (GRCm39)		probably null	Het
Oacyl	T	A	18: 65,831,414 (GRCm39)	V17D	possibly damaging	Het
Obsl1	C	A	1: 75,480,157 (GRCm39)	R463L	possibly damaging	Het
Or1f19	T	A	16: 3,410,725 (GRCm39)	L155Q	probably damaging	Het
Or8b40	G	A	9: 38,028,010 (GRCm39)	S311N	probably benign	Het
Pcnt	A	T	10: 76,217,128 (GRCm39)	C2184*	probably null	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phrf1	T	G	7: 140,834,815 (GRCm39)	S198A	unknown	Het
Plekhg2	C	G	7: 28,064,249 (GRCm39)	A431P	probably damaging	Het
Ppp1r13b	C	T	12: 111,810,077 (GRCm39)	D244N	probably damaging	Het
Raph1	T	C	1: 60,564,887 (GRCm39)	E200G	possibly damaging	Het
Rnf6	A	G	5: 146,147,936 (GRCm39)	S361P	probably benign	Het
Scgb2b19	G	A	7: 32,978,039 (GRCm39)	A86V	probably benign	Het
Sec23b	T	A	2: 144,408,728 (GRCm39)	C138S	possibly damaging	Het
Slco1c1	T	C	6: 141,505,606 (GRCm39)	S511P	possibly damaging	Het
Tas2r130	A	G	6: 131,607,175 (GRCm39)	S207P	probably damaging	Het
Tdpoz1	A	T	3: 93,578,540 (GRCm39)	H81Q	probably benign	Het
Usp8	A	G	2: 126,578,414 (GRCm39)	K289E	probably damaging	Het
Vmn1r18	A	C	6: 57,367,202 (GRCm39)	N117K	probably benign	Het
Vps13c	G	T	9: 67,872,794 (GRCm39)	G3270V	probably damaging	Het
Wdr20	A	G	12: 110,760,187 (GRCm39)	T358A	probably benign	Het
Wwc1	A	C	11: 35,870,796 (GRCm39)		probably null	Het
Yars2	G	T	16: 16,127,242 (GRCm39)	V436L	possibly damaging	Het
Zfp609	G	A	9: 65,604,512 (GRCm39)	Q1324*	probably null	Het
Zfp81	T	C	17: 33,553,774 (GRCm39)	T347A	probably benign	Het
Zgpat	T	C	2: 181,021,366 (GRCm39)	V292A	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
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
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

PCR Primer
(F):5'- GAGCACAGTTTCAGAGTTAAGG -3'
(R):5'- GCATCAGACTTCAACCTGCTAG -3'

Sequencing Primer
(F):5'- TTTCAGAGTTAAGGAGGGGCATC -3'
(R):5'- CTGTATTCACCTAGGACATGGTAG -3'

Posted On

2022-08-09