Mutagenetix > Incidental Mutation

Incidental Mutation 'R6191:Csn2'

502552

Institutional Source

Beutler Lab

Gene Symbol

Csn2

Ensembl Gene

ENSMUSG00000063157

Gene Name

casein beta

Synonyms

CSN2, Csnb

MMRRC Submission

044331-MU

Accession Numbers

Essential gene?

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

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87840478-87847288 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 87843885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143409 (fasta)

Gene Model

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

AlphaFold

P10598

Predicted Effect

probably null
Transcript: ENSMUST00000082370

SMART Domains

Protein: ENSMUSP00000080976
Gene: ENSMUSG00000063157

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 null
Transcript: ENSMUST00000196163

SMART Domains

Protein: ENSMUSP00000142673
Gene: ENSMUSG00000063157

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196664

Predicted Effect

probably null
Transcript: ENSMUST00000196869

SMART Domains

Protein: ENSMUSP00000142971
Gene: ENSMUSG00000063157

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197281

Predicted Effect

probably null
Transcript: ENSMUST00000197422

SMART Domains

Protein: ENSMUSP00000143341
Gene: ENSMUSG00000063157

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 null
Transcript: ENSMUST00000198057

SMART Domains

Protein: ENSMUSP00000143709
Gene: ENSMUSG00000063157

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 null
Transcript: ENSMUST00000199624

SMART Domains

Protein: ENSMUSP00000143409
Gene: ENSMUSG00000063157

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 55,909,807 (GRCm39)	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,143,419 (GRCm39)	K334N	probably benign	Het
Ano6	T	C	15: 95,846,380 (GRCm39)		probably null	Het
Ap1m2	C	A	9: 21,210,601 (GRCm39)	V343F	probably benign	Het
Apol6	T	C	15: 76,940,098 (GRCm39)	V307A	probably benign	Het
Arsi	C	A	18: 61,045,544 (GRCm39)	A78E	probably damaging	Het
B2m	A	T	2: 121,981,396 (GRCm39)	N37I	possibly damaging	Het
Bltp3b	G	T	10: 89,641,180 (GRCm39)	G784C	possibly damaging	Het
C8a	T	C	4: 104,703,100 (GRCm39)	K363R	probably benign	Het
Ccdc117	C	A	11: 5,484,242 (GRCm39)		probably null	Het
Ccdc154	C	A	17: 25,386,945 (GRCm39)	Q325K	probably damaging	Het
Cd300e	A	T	11: 114,945,359 (GRCm39)	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,356,474 (GRCm39)	P673Q	probably damaging	Het
Ctnna1	T	C	18: 35,307,408 (GRCm39)	V135A	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dnah12	A	G	14: 26,431,412 (GRCm39)	H410R	probably benign	Het
Dock2	C	T	11: 34,181,652 (GRCm39)	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,325,214 (GRCm39)	N526D	unknown	Het
Frem2	T	C	3: 53,562,701 (GRCm39)	H602R	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Grina	T	C	15: 76,133,218 (GRCm39)	V262A	probably damaging	Het
Gse1	G	A	8: 121,280,542 (GRCm39)		probably null	Het
H2-Oa	C	A	17: 34,312,842 (GRCm39)	Q40K	probably damaging	Het
Hfm1	C	A	5: 107,034,419 (GRCm39)	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,348,758 (GRCm39)	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,780,029 (GRCm39)	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Iqank1	T	C	15: 75,918,218 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,229,833 (GRCm39)	V1221A	probably benign	Het
Kdm6b	T	C	11: 69,297,584 (GRCm39)	N285S	probably benign	Het
Klk1b1	T	A	7: 43,620,081 (GRCm39)	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,738,125 (GRCm39)		probably benign	Het
Lama5	T	C	2: 179,827,752 (GRCm39)	D2170G	probably damaging	Het
Lama5	T	A	2: 179,822,404 (GRCm39)	T2890S	probably damaging	Het
Lsm2	T	A	17: 35,201,131 (GRCm39)		probably benign	Het
Map3k5	G	T	10: 19,899,415 (GRCm39)	C232F	probably damaging	Het
Mapk9	T	G	11: 49,754,383 (GRCm39)	D45E	probably damaging	Het
Mpnd	T	C	17: 56,319,482 (GRCm39)	V315A	possibly damaging	Het
Msh2	A	G	17: 88,030,900 (GRCm39)	I926V	probably benign	Het
Mtcl1	C	T	17: 66,650,521 (GRCm39)	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,457,058 (GRCm39)		probably null	Het
Neo1	T	C	9: 58,796,312 (GRCm39)	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,559,291 (GRCm39)	S259G	probably benign	Het
Nkain4	G	A	2: 180,577,796 (GRCm39)	P186L	probably damaging	Het
Nkain4	G	A	2: 180,577,797 (GRCm39)	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,283 (GRCm39)	R73*	probably null	Het
Nr5a2	T	C	1: 136,818,536 (GRCm39)	D330G	probably damaging	Het
Nup54	A	G	5: 92,572,153 (GRCm39)	L299P	probably damaging	Het
Or2v1	T	C	11: 49,025,877 (GRCm39)	L286P	probably damaging	Het
Or5aq7	A	G	2: 86,938,296 (GRCm39)	V145A	probably damaging	Het
Pcdhb8	T	A	18: 37,489,279 (GRCm39)	V319E	probably benign	Het
Pcsk6	T	A	7: 65,578,875 (GRCm39)	D129E	probably benign	Het
Pld5	G	A	1: 175,798,100 (GRCm39)	T433I	probably benign	Het
Plin1	A	T	7: 79,371,347 (GRCm39)	L459H	probably benign	Het
Psd4	T	C	2: 24,284,499 (GRCm39)	V121A	probably damaging	Het
Pxdn	A	T	12: 30,032,716 (GRCm39)	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,320,384 (GRCm39)	S569P	probably damaging	Het
Rfng	T	A	11: 120,673,516 (GRCm39)	T202S	probably damaging	Het
Robo1	T	C	16: 72,730,696 (GRCm39)	S266P	probably benign	Het
Sema3c	G	T	5: 17,858,804 (GRCm39)	V68L	probably damaging	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Slfn8	A	G	11: 82,907,626 (GRCm39)	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,720,105 (GRCm39)	D144G	probably damaging	Het
St7l	T	G	3: 104,775,349 (GRCm39)	F75C	probably damaging	Het
Stard10	A	G	7: 100,992,468 (GRCm39)	I145V	probably damaging	Het
Tekt3	C	T	11: 62,968,999 (GRCm39)	A242V	probably damaging	Het
Tex44	A	G	1: 86,354,306 (GRCm39)		probably benign	Het
Thg1l	T	C	11: 45,844,988 (GRCm39)	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,583,744 (GRCm39)	I67N	probably damaging	Het
Ttn	G	A	2: 76,677,770 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,861,051 (GRCm39)	L253*	probably null	Het
Uggt1	A	T	1: 36,201,289 (GRCm39)	N1150K	probably damaging	Het
Ush2a	T	A	1: 187,995,298 (GRCm39)	L23*	probably null	Het
Usp22	T	A	11: 61,065,602 (GRCm39)	N37I	probably benign	Het
Usp53	T	A	3: 122,743,390 (GRCm39)	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,322,702 (GRCm39)	K6E	probably benign	Het
Vps13d	C	T	4: 144,875,918 (GRCm39)	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,153,612 (GRCm39)	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,155,156 (GRCm39)	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,917,900 (GRCm39)		probably benign	Het
Zfp345	A	C	2: 150,315,010 (GRCm39)	Y176D	probably benign	Het
Zfp598	T	C	17: 24,896,850 (GRCm39)	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,393,820 (GRCm39)	D10G	probably damaging	Het
Zmat4	T	G	8: 24,392,083 (GRCm39)	M13R	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GCCACATGGTTAGCATGTCC -3'
(R):5'- GACTGCACTCACTTTTCTTGTAAAC -3'

Sequencing Primer
(F):5'- ATGGTTAGCATGTCCTTTCACTGAC -3'
(R):5'- CTCACTTTTCTTGTAAACAGTAGGC -3'

Posted On

2018-02-27