Incidental Mutation 'IGL03380:Caps2'
ID |
420652 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Caps2
|
Ensembl Gene |
ENSMUSG00000035694 |
Gene Name |
calcyphosphine 2 |
Synonyms |
D630005B03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
IGL03380
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
111999526-112052460 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112036601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 345
(E345G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092176]
[ENSMUST00000170013]
|
AlphaFold |
Q8BUG5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092176
AA Change: E345G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000089815 Gene: ENSMUSG00000035694 AA Change: E345G
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_6
|
384 |
420 |
2e-4 |
PFAM |
Blast:EFh
|
457 |
485 |
5e-11 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170013
AA Change: E387G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000129887 Gene: ENSMUSG00000035694 AA Change: E387G
Domain | Start | End | E-Value | Type |
PDB:3E3R|B
|
403 |
592 |
4e-27 |
PDB |
Blast:EFh
|
425 |
453 |
1e-7 |
BLAST |
SCOP:d1hqva_
|
430 |
522 |
4e-10 |
SMART |
Blast:EFh
|
461 |
491 |
3e-6 |
BLAST |
Blast:EFh
|
499 |
527 |
6e-11 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
Het |
|
Other mutations in Caps2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01888:Caps2
|
APN |
10 |
112,018,965 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02159:Caps2
|
APN |
10 |
112,039,928 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02412:Caps2
|
APN |
10 |
112,039,941 (GRCm39) |
critical splice donor site |
probably null |
|
R0601:Caps2
|
UTSW |
10 |
112,031,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0658:Caps2
|
UTSW |
10 |
112,039,943 (GRCm39) |
splice site |
probably benign |
|
R0846:Caps2
|
UTSW |
10 |
112,051,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R1472:Caps2
|
UTSW |
10 |
112,015,377 (GRCm39) |
missense |
probably benign |
0.26 |
R1711:Caps2
|
UTSW |
10 |
112,026,883 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1834:Caps2
|
UTSW |
10 |
112,031,623 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1990:Caps2
|
UTSW |
10 |
112,036,591 (GRCm39) |
missense |
probably benign |
0.01 |
R1996:Caps2
|
UTSW |
10 |
112,039,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R2077:Caps2
|
UTSW |
10 |
112,035,632 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3161:Caps2
|
UTSW |
10 |
112,018,391 (GRCm39) |
nonsense |
probably null |
|
R3162:Caps2
|
UTSW |
10 |
112,018,391 (GRCm39) |
nonsense |
probably null |
|
R3162:Caps2
|
UTSW |
10 |
112,018,391 (GRCm39) |
nonsense |
probably null |
|
R3716:Caps2
|
UTSW |
10 |
112,036,637 (GRCm39) |
missense |
probably benign |
0.00 |
R4702:Caps2
|
UTSW |
10 |
112,044,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R4978:Caps2
|
UTSW |
10 |
112,018,399 (GRCm39) |
missense |
probably benign |
0.04 |
R5285:Caps2
|
UTSW |
10 |
112,044,216 (GRCm39) |
missense |
probably benign |
|
R5911:Caps2
|
UTSW |
10 |
112,001,591 (GRCm39) |
start gained |
probably benign |
|
R5933:Caps2
|
UTSW |
10 |
112,051,351 (GRCm39) |
missense |
probably benign |
0.38 |
R6368:Caps2
|
UTSW |
10 |
112,030,873 (GRCm39) |
nonsense |
probably null |
|
R6476:Caps2
|
UTSW |
10 |
112,011,465 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7442:Caps2
|
UTSW |
10 |
112,044,259 (GRCm39) |
missense |
probably damaging |
0.99 |
R7899:Caps2
|
UTSW |
10 |
112,001,666 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8130:Caps2
|
UTSW |
10 |
112,018,381 (GRCm39) |
missense |
probably benign |
0.38 |
R8880:Caps2
|
UTSW |
10 |
112,030,824 (GRCm39) |
splice site |
probably benign |
|
R9151:Caps2
|
UTSW |
10 |
112,031,829 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9516:Caps2
|
UTSW |
10 |
112,036,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2016-08-02 |