Incidental Mutation 'R5362:Csn2'
| ID |
422863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csn2
|
| Ensembl Gene |
ENSMUSG00000063157 |
| Gene Name |
casein beta |
| Synonyms |
CSN2, Csnb |
| MMRRC Submission |
043264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5362 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87840478-87847288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87842508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 165
(H165L)
|
| 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: H172L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080976
Gene: ENSMUSG00000063157
AA Change: H172L
| 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: H165L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142673
Gene: ENSMUSG00000063157
AA Change: H165L
| 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: H157L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142971
Gene: ENSMUSG00000063157
AA Change: H157L
| 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: H173L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143341
Gene: ENSMUSG00000063157
AA Change: H173L
| 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 benign
Transcript: ENSMUST00000198057
AA Change: H172L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143709
Gene: ENSMUSG00000063157
AA Change: H172L
| 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: H173L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143409
Gene: ENSMUSG00000063157
AA Change: H173L
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
T |
6: 133,271,445 (GRCm39) |
D163V |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,413,404 (GRCm39) |
A1170V |
probably damaging |
Het |
| Ano1 |
A |
C |
7: 144,202,337 (GRCm39) |
|
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,168,890 (GRCm39) |
N37D |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 143,028,969 (GRCm39) |
Y90C |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,498,655 (GRCm39) |
N499S |
probably benign |
Het |
| Ccdc47 |
G |
A |
11: 106,099,039 (GRCm39) |
|
probably null |
Het |
| Cd300lf |
G |
T |
11: 115,007,940 (GRCm39) |
L251M |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,522,623 (GRCm39) |
S670G |
probably damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,909,196 (GRCm39) |
D188G |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,295,760 (GRCm39) |
|
probably benign |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,326 (GRCm39) |
V60A |
possibly damaging |
Het |
| Elp1 |
A |
C |
4: 56,778,969 (GRCm39) |
I616S |
probably damaging |
Het |
| Fam221a |
A |
G |
6: 49,353,049 (GRCm39) |
H21R |
probably damaging |
Het |
| Foxj3 |
T |
A |
4: 119,477,340 (GRCm39) |
H349Q |
unknown |
Het |
| Gm37240 |
G |
A |
3: 84,423,000 (GRCm39) |
T123I |
probably damaging |
Het |
| Gpc1 |
A |
T |
1: 92,782,615 (GRCm39) |
T121S |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,961 (GRCm39) |
V512A |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,002,675 (GRCm39) |
Y144C |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,037 (GRCm39) |
I60K |
possibly damaging |
Het |
| Kif9 |
G |
A |
9: 110,319,012 (GRCm39) |
V159M |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,265,914 (GRCm39) |
D229G |
probably damaging |
Het |
| Nkpd1 |
G |
A |
7: 19,257,193 (GRCm39) |
G324D |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,808,221 (GRCm39) |
Y617N |
probably benign |
Het |
| Ocm |
T |
C |
5: 143,960,674 (GRCm39) |
D91G |
probably damaging |
Het |
| Or4l15 |
A |
G |
14: 50,197,986 (GRCm39) |
L181P |
possibly damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,995,454 (GRCm39) |
V227A |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,710,422 (GRCm39) |
E68G |
probably damaging |
Het |
| Pex5l |
G |
A |
3: 33,047,065 (GRCm39) |
A295V |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Pou2f2 |
G |
A |
7: 24,792,320 (GRCm39) |
P512S |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,397,236 (GRCm39) |
R2023Q |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 76,047,050 (GRCm39) |
S399R |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,976 (GRCm39) |
Y1889C |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ranbp6 |
G |
T |
19: 29,789,128 (GRCm39) |
T408K |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,530,342 (GRCm39) |
R668C |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,529,414 (GRCm39) |
N134S |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 121,891,481 (GRCm39) |
N1963K |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
| Top2a |
T |
C |
11: 98,909,738 (GRCm39) |
N120S |
probably damaging |
Het |
| Trappc9 |
C |
T |
15: 72,930,066 (GRCm39) |
E97K |
possibly damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,386 (GRCm39) |
T102S |
probably benign |
Het |
| Vmn2r99 |
G |
T |
17: 19,599,601 (GRCm39) |
M428I |
probably benign |
Het |
| Zfp62 |
A |
T |
11: 49,107,439 (GRCm39) |
H510L |
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 |
|
|
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 |
|
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'- ACTTACAGAAACGGAATGTTGTGG -3'
(R):5'- CAGGCTCAAACCATCTCTTGC -3'
Sequencing Primer
(F):5'- AACGGAATGTTGTGGAGTGGC -3'
(R):5'- GTCATTTCTCCTGAACTGGAATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation