Incidental Mutation 'IGL01617:Csrnp2'
| ID |
92423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csrnp2
|
| Ensembl Gene |
ENSMUSG00000044636 |
| Gene Name |
cysteine-serine-rich nuclear protein 2 |
| Synonyms |
CSRNP-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
100377451-100393120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100382524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 172
(Y172C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061457]
|
| AlphaFold |
Q8BGQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061457
AA Change: Y172C
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052144
Gene: ENSMUSG00000044636
AA Change: Y172C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
40 |
N/A |
INTRINSIC |
|
Pfam:CSRNP_N
|
61 |
280 |
5e-106 |
PFAM |
|
low complexity region
|
330 |
349 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy and display normal development, hematopoiesis and T cell function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,115,149 (GRCm39) |
I160F |
possibly damaging |
Het |
| Cacna1d |
C |
T |
14: 29,824,328 (GRCm39) |
A1030T |
probably damaging |
Het |
| Ceacam13 |
A |
T |
7: 17,745,308 (GRCm39) |
D126V |
possibly damaging |
Het |
| Cep68 |
G |
T |
11: 20,189,510 (GRCm39) |
Q501K |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,481,417 (GRCm39) |
C154* |
probably null |
Het |
| Chd3 |
A |
G |
11: 69,249,060 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,912,297 (GRCm39) |
M262V |
probably damaging |
Het |
| Dzip1 |
G |
T |
14: 119,118,477 (GRCm39) |
P752Q |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,854,376 (GRCm39) |
T1630I |
probably benign |
Het |
| Gabrr1 |
G |
A |
4: 33,162,634 (GRCm39) |
S400N |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,547,783 (GRCm39) |
A2723T |
probably benign |
Het |
| Htt |
A |
G |
5: 35,034,099 (GRCm39) |
H1895R |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,879,840 (GRCm39) |
|
probably benign |
Het |
| Mitf |
A |
G |
6: 97,973,389 (GRCm39) |
I241V |
probably benign |
Het |
| Mterf1b |
A |
T |
5: 4,246,503 (GRCm39) |
D48V |
probably benign |
Het |
| Nmbr |
G |
T |
10: 14,646,173 (GRCm39) |
R349M |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,532,164 (GRCm39) |
S579P |
probably benign |
Het |
| Polr2i |
T |
C |
7: 29,931,817 (GRCm39) |
F16S |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rgs11 |
A |
G |
17: 26,427,224 (GRCm39) |
H385R |
probably damaging |
Het |
| Rufy4 |
G |
A |
1: 74,168,513 (GRCm39) |
G99R |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,375 (GRCm39) |
F185S |
probably benign |
Het |
| Spag17 |
G |
A |
3: 100,016,824 (GRCm39) |
V2200I |
possibly damaging |
Het |
| Trappc14 |
A |
T |
5: 138,260,478 (GRCm39) |
L47Q |
probably damaging |
Het |
| Ttc7b |
G |
T |
12: 100,352,215 (GRCm39) |
A414D |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,399,738 (GRCm39) |
W257R |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,974,482 (GRCm39) |
I381M |
possibly damaging |
Het |
|
| Other mutations in Csrnp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0674:Csrnp2
|
UTSW |
15 |
100,385,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Csrnp2
|
UTSW |
15 |
100,387,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3683:Csrnp2
|
UTSW |
15 |
100,379,879 (GRCm39) |
missense |
probably benign |
|
|
R4688:Csrnp2
|
UTSW |
15 |
100,380,241 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4846:Csrnp2
|
UTSW |
15 |
100,382,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Csrnp2
|
UTSW |
15 |
100,379,935 (GRCm39) |
missense |
probably benign |
|
|
R5678:Csrnp2
|
UTSW |
15 |
100,379,685 (GRCm39) |
makesense |
probably null |
|
|
R6056:Csrnp2
|
UTSW |
15 |
100,380,263 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6765:Csrnp2
|
UTSW |
15 |
100,380,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Csrnp2
|
UTSW |
15 |
100,379,839 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7513:Csrnp2
|
UTSW |
15 |
100,380,297 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7697:Csrnp2
|
UTSW |
15 |
100,385,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Csrnp2
|
UTSW |
15 |
100,387,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9582:Csrnp2
|
UTSW |
15 |
100,386,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0020:Csrnp2
|
UTSW |
15 |
100,382,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation