Mutagenetix > Incidental Mutation

Incidental Mutation 'R6730:Csn1s2b'

530012

Institutional Source

Beutler Lab

Gene Symbol

Csn1s2b

Ensembl Gene

ENSMUSG00000061388

Gene Name

casein alpha s2-like B

Synonyms

Csne, Csnd

MMRRC Submission

044848-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6730 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87955980-87972280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87970127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 124 (H124Q)

Ref Sequence

ENSEMBL: ENSMUSP00000072352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002310] [ENSMUST00000072539] [ENSMUST00000101056] [ENSMUST00000101057] [ENSMUST00000113279] [ENSMUST00000197301]

AlphaFold

P02664

Predicted Effect

probably benign
Transcript: ENSMUST00000002310

SMART Domains

Protein: ENSMUSP00000002310
Gene: ENSMUSG00000002240

Domain	Start	End	E-Value	Type
low complexity region	49	57	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC
low complexity region	137	153	N/A	INTRINSIC
low complexity region	179	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072539
AA Change: H124Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000072352
Gene: ENSMUSG00000061388
AA Change: H124Q

Domain	Start	End	E-Value	Type
Pfam:Casein	58	136	4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101056

SMART Domains

Protein: ENSMUSP00000098617
Gene: ENSMUSG00000002240

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	112	138	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101057

Predicted Effect

probably benign
Transcript: ENSMUST00000113279
AA Change: H119Q

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

SMART Domains

Protein: ENSMUSP00000108904
Gene: ENSMUSG00000061388
AA Change: H119Q

Domain	Start	End	E-Value	Type
Pfam:Casein	55	133	5.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197301
AA Change: H113Q

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

SMART Domains

Protein: ENSMUSP00000142449
Gene: ENSMUSG00000061388
AA Change: H113Q

Domain	Start	End	E-Value	Type
Pfam:Casein	45	127	7.2e-15	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: This gene is a member of the alpha-s2-like casein gene family, and this gene product is a calcium-sensitive casein. Members of this gene family are organized as a gene cluster that is conserved in its order, but with greater conservation amongst orthologs than paralogs. The protein encoded by this gene interacts with other casein proteins to form a micelle structure, and is a major source of protein in milk. This structure is important for the transport of calcium, phosphate, and protein. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	A	3: 116,777,124 (GRCm39)	*59R	probably null	Het
Adam10	G	T	9: 70,647,458 (GRCm39)		probably null	Het
Adam2	A	T	14: 66,275,025 (GRCm39)	N569K	possibly damaging	Het
Adam20	T	C	8: 41,249,696 (GRCm39)	V602A	probably benign	Het
Adgrb3	T	C	1: 25,133,375 (GRCm39)	Y1237C	probably damaging	Het
Ago3	T	C	4: 126,265,338 (GRCm39)	T318A	probably null	Het
Aknad1	G	A	3: 108,659,655 (GRCm39)	G223D	possibly damaging	Het
Camkv	T	C	9: 107,825,516 (GRCm39)	S478P	possibly damaging	Het
Ccl27a	T	A	4: 41,773,342 (GRCm39)	H39L	probably damaging	Het
Ccser2	C	A	14: 36,601,043 (GRCm39)	S447I	probably damaging	Het
Clvs2	A	G	10: 33,404,517 (GRCm39)	L233P	probably damaging	Het
Dnhd1	T	C	7: 105,353,082 (GRCm39)	L2745P	probably benign	Het
Dync1i2	T	A	2: 71,077,484 (GRCm39)	F219L	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ephb6	C	T	6: 41,594,308 (GRCm39)	Q613*	probably null	Het
Erc2	A	C	14: 27,620,524 (GRCm39)	D50A	possibly damaging	Het
Fam149a	T	A	8: 45,834,211 (GRCm39)	D196V	probably damaging	Het
Ficd	T	C	5: 113,876,773 (GRCm39)	V316A	probably damaging	Het
Gstm6	T	A	3: 107,850,041 (GRCm39)	K18*	probably null	Het
Ighv1-62-1	A	T	12: 115,350,512 (GRCm39)	W52R	probably benign	Het
Klhl18	C	T	9: 110,257,979 (GRCm39)	C417Y	probably damaging	Het
Ly9	T	A	1: 171,432,737 (GRCm39)	Y92F	probably benign	Het
Mettl18	C	T	1: 163,824,750 (GRCm39)	T357I	probably damaging	Het
Myoz2	C	A	3: 122,810,276 (GRCm39)	G100C	probably damaging	Het
Or10a49	A	T	7: 108,467,780 (GRCm39)	F194I	probably benign	Het
Or4k47	A	G	2: 111,452,080 (GRCm39)	V113A	probably damaging	Het
Or7h8	T	C	9: 20,123,798 (GRCm39)	I51T	probably benign	Het
Pars2	C	T	4: 106,510,628 (GRCm39)	L128F	probably damaging	Het
Pcsk6	G	T	7: 65,629,996 (GRCm39)	R374L	probably damaging	Het
Ptpn3	T	C	4: 57,270,088 (GRCm39)	T25A	probably benign	Het
Rab11fip1	G	A	8: 27,633,257 (GRCm39)	P1150S	probably damaging	Het
Rabep1	A	G	11: 70,831,212 (GRCm39)	Q831R	possibly damaging	Het
Rad17	T	C	13: 100,786,253 (GRCm39)		probably benign	Het
Rxfp1	T	A	3: 79,557,898 (GRCm39)	R527*	probably null	Het
Scnn1b	C	T	7: 121,502,100 (GRCm39)	P253S	probably damaging	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc2a7	T	C	4: 150,242,605 (GRCm39)	F231S	probably damaging	Het
Svil	A	G	18: 5,049,311 (GRCm39)	N196S	probably benign	Het
Tent5c	T	A	3: 100,380,273 (GRCm39)	N161I	probably benign	Het
Urb1	T	C	16: 90,575,971 (GRCm39)	S862G	possibly damaging	Het
Usp30	T	C	5: 114,241,770 (GRCm39)	S87P	probably damaging	Het
Vmn1r177	T	A	7: 23,565,237 (GRCm39)	H213L	probably damaging	Het
Vmn2r106	T	A	17: 20,499,096 (GRCm39)	I272L	possibly damaging	Het
Vmn2r120	T	A	17: 57,832,012 (GRCm39)	D259V	probably benign	Het

Other mutations in Csn1s2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01559:Csn1s2b	APN	5	87,968,810 (GRCm39)	nonsense	probably null
IGL01704:Csn1s2b	APN	5	87,960,970 (GRCm39)	missense	probably damaging	1.00
IGL01785:Csn1s2b	APN	5	87,957,772 (GRCm39)	missense	possibly damaging	0.91
IGL02689:Csn1s2b	APN	5	87,957,780 (GRCm39)	missense	probably benign	0.41
R1596:Csn1s2b	UTSW	5	87,966,917 (GRCm39)	splice site	probably benign
R1649:Csn1s2b	UTSW	5	87,966,943 (GRCm39)	missense	probably benign	0.07
R1682:Csn1s2b	UTSW	5	87,970,162 (GRCm39)	missense	probably damaging	0.98
R1747:Csn1s2b	UTSW	5	87,964,529 (GRCm39)	splice site	probably benign
R3123:Csn1s2b	UTSW	5	87,966,917 (GRCm39)	splice site	probably benign
R4667:Csn1s2b	UTSW	5	87,970,170 (GRCm39)	missense	possibly damaging	0.53
R4781:Csn1s2b	UTSW	5	87,966,952 (GRCm39)	missense	possibly damaging	0.77
R4965:Csn1s2b	UTSW	5	87,961,820 (GRCm39)	missense	possibly damaging	0.81
R6013:Csn1s2b	UTSW	5	87,972,098 (GRCm39)	splice site	probably null
R8028:Csn1s2b	UTSW	5	87,966,951 (GRCm39)	missense	probably benign	0.01
R9651:Csn1s2b	UTSW	5	87,968,820 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTGAATGTACCCTCTGAGCTATG -3'
(R):5'- ATGGGTCATCATTTTCTGCTTTAGC -3'

Sequencing Primer
(F):5'- GCTATGTTTGTTTTAATAAAGAGCCC -3'
(R):5'- CCATTCCTAGAAAAACTGTGAG -3'

Posted On

2018-08-01