Incidental Mutation 'R4322:Csn2'
| ID |
323867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csn2
|
| Ensembl Gene |
ENSMUSG00000063157 |
| Gene Name |
casein beta |
| Synonyms |
CSN2, Csnb |
| MMRRC Submission |
041093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4322 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87840478-87847288 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 87845886 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 |
noncoding transcript
Transcript: ENSMUST00000199716
|
| 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
|
| Meta Mutation Damage Score |
0.9486 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
94% (48/51) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
G |
A |
4: 154,751,701 (GRCm39) |
A145V |
probably damaging |
Het |
| Allc |
C |
A |
12: 28,604,023 (GRCm39) |
L353F |
probably benign |
Het |
| Alx3 |
C |
T |
3: 107,502,691 (GRCm39) |
P67L |
probably benign |
Het |
| Arhgef10l |
C |
A |
4: 140,270,037 (GRCm39) |
G882V |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,731 (GRCm39) |
N299I |
probably damaging |
Het |
| Ccdc80 |
G |
T |
16: 44,915,951 (GRCm39) |
V236L |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,534 (GRCm39) |
I1085L |
probably benign |
Het |
| Dnajb14 |
G |
A |
3: 137,591,060 (GRCm39) |
G54S |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,610,300 (GRCm39) |
L291Q |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm12250 |
G |
A |
11: 58,079,126 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
C |
16: 22,898,270 (GRCm39) |
M557L |
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,367,707 (GRCm39) |
F83S |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,292,724 (GRCm39) |
E192G |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,256,335 (GRCm39) |
E4602* |
probably null |
Het |
| Mc4r |
T |
C |
18: 66,992,121 (GRCm39) |
R331G |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,954,306 (GRCm39) |
D393G |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,712,078 (GRCm39) |
K303E |
probably benign |
Het |
| Or5p69 |
C |
T |
7: 107,967,555 (GRCm39) |
P286L |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,745,929 (GRCm39) |
T591A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,244,464 (GRCm39) |
H310L |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,981,632 (GRCm39) |
T502K |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,705,711 (GRCm39) |
K238E |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,931,449 (GRCm39) |
R219C |
probably damaging |
Het |
| Them5 |
C |
A |
3: 94,253,463 (GRCm39) |
H158N |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,408 (GRCm39) |
N63I |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 19,007,960 (GRCm39) |
F264L |
probably damaging |
Het |
| Vtn |
A |
T |
11: 78,390,916 (GRCm39) |
|
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 |
|
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 |
|
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'- TGCACATGTGAGTCTACTTTTGC -3'
(R):5'- CTGCAGCTGAAGTCTGAGTGTAG -3'
Sequencing Primer
(F):5'- GCAAAGTCATTTTTACTCGATGC -3'
(R):5'- AGCTGAAGTCTGAGTGTAGTGTTTAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation