Incidental Mutation 'R0846:Caps2'
| ID |
77378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caps2
|
| Ensembl Gene |
ENSMUSG00000035694 |
| Gene Name |
calcyphosphine 2 |
| Synonyms |
D630005B03Rik |
| MMRRC Submission |
039025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111999526-112052460 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112051490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 587
(R587H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092176]
[ENSMUST00000170013]
|
| AlphaFold |
Q8BUG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092176
AA Change: R545H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694
AA Change: R545H
| 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 damaging
Transcript: ENSMUST00000170013
AA Change: R587H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: R587H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219794
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
| Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
| Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
| Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
| Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
| Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
| Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
| Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
| Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
| Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
| Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
| Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
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 |
|
|
IGL03380:Caps2
|
APN |
10 |
112,036,601 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAAGCATCCCTCTATCACCACCTG -3'
(R):5'- AGTTGCACTACTTCAGCCTTGATCTG -3'
Sequencing Primer
(F):5'- ACCACCTGTCATTTTGCTGAAC -3'
(R):5'- GTTCTCAAAAGCACACATCTATTTCC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation