Incidental Mutation 'IGL01785:Csn1s2b'
| ID |
153784 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csn1s2b
|
| Ensembl Gene |
ENSMUSG00000061388 |
| Gene Name |
casein alpha s2-like B |
| Synonyms |
Csne, Csnd |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01785
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87955980-87972280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87957772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 2
(K2R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072539]
[ENSMUST00000101057]
[ENSMUST00000113279]
[ENSMUST00000197301]
|
| AlphaFold |
P02664 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072539
AA Change: K2R
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072352
Gene: ENSMUSG00000061388
AA Change: K2R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Casein
|
58 |
136 |
4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101057
AA Change: K2R
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113279
AA Change: K2R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108904
Gene: ENSMUSG00000061388
AA Change: K2R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Casein
|
55 |
133 |
5.1e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197301
AA Change: K2R
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142449
Gene: ENSMUSG00000061388
AA Change: K2R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Casein
|
45 |
127 |
7.2e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200098
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,965,058 (GRCm39) |
Y309* |
probably null |
Het |
| Abhd18 |
G |
A |
3: 40,860,339 (GRCm39) |
R42Q |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,380,525 (GRCm39) |
D115G |
probably damaging |
Het |
| Clec2e |
A |
T |
6: 129,070,364 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,563,144 (GRCm39) |
L744P |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,968,871 (GRCm39) |
L348* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
| Or6z1 |
T |
C |
7: 6,504,899 (GRCm39) |
I109V |
probably benign |
Het |
| Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
| Pdpr |
C |
A |
8: 111,856,288 (GRCm39) |
H670Q |
probably damaging |
Het |
| Phf21b |
C |
A |
15: 84,692,262 (GRCm39) |
|
probably benign |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Ptprm |
G |
T |
17: 66,992,618 (GRCm39) |
N1366K |
probably damaging |
Het |
| Slc10a5 |
G |
A |
3: 10,400,259 (GRCm39) |
P134S |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
| Stat6 |
T |
A |
10: 127,493,096 (GRCm39) |
V576D |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 128,061,379 (GRCm39) |
I408V |
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
| Tmod4 |
A |
G |
3: 95,032,929 (GRCm39) |
T22A |
probably benign |
Het |
| Tmprss7 |
C |
T |
16: 45,500,997 (GRCm39) |
G268D |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
| Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
| Ttc29 |
T |
C |
8: 79,008,970 (GRCm39) |
L280P |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
Het |
| Vmn1r31 |
A |
C |
6: 58,449,709 (GRCm39) |
M3R |
possibly damaging |
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 |
|
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 |
|
|
R6730:Csn1s2b
|
UTSW |
5 |
87,970,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation