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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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