Incidental Mutation 'R6476:Caps2'
ID 516800
Institutional Source Beutler Lab
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 # R6476 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 111999526-112052460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112011465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 30 (T30A)
Ref Sequence ENSEMBL: ENSMUSP00000129887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092176] [ENSMUST00000170013]
AlphaFold Q8BUG5
Predicted Effect probably benign
Transcript: ENSMUST00000092176
SMART Domains Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694

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 possibly damaging
Transcript: ENSMUST00000170013
AA Change: T30A

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: T30A

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 154,892,699 (GRCm39) V126A probably benign Het
Adamts20 T C 15: 94,259,691 (GRCm39) Q336R probably benign Het
Ankrd36 A G 11: 5,578,753 (GRCm39) T6A probably benign Het
Arhgap33 A G 7: 30,223,837 (GRCm39) S731P probably damaging Het
Arhgef10l G C 4: 140,338,693 (GRCm39) P23R probably damaging Het
Atf7 T C 15: 102,502,147 (GRCm39) D3G probably benign Het
Ccdc15 A T 9: 37,253,715 (GRCm39) I191N probably benign Het
Cep170 A T 1: 176,607,917 (GRCm39) S180T possibly damaging Het
Chd1 G A 17: 17,601,250 (GRCm39) probably null Het
Col6a3 A T 1: 90,709,534 (GRCm39) N1887K unknown Het
Csgalnact1 C T 8: 68,913,761 (GRCm39) S148N probably damaging Het
Csgalnact1 T A 8: 68,913,762 (GRCm39) S148C probably damaging Het
Dnah14 A G 1: 181,572,333 (GRCm39) E2888G probably benign Het
Dnah7b T A 1: 46,281,364 (GRCm39) Y2808* probably null Het
Dock10 A C 1: 80,518,959 (GRCm39) L1254* probably null Het
Eml2 T C 7: 18,930,236 (GRCm39) V511A probably benign Het
Eml6 A G 11: 29,741,971 (GRCm39) probably null Het
Erbin C A 13: 103,977,755 (GRCm39) D601Y probably damaging Het
Farsa A G 8: 85,583,809 (GRCm39) E49G probably damaging Het
Fzd7 A G 1: 59,523,154 (GRCm39) M346V probably damaging Het
Gatd3a T C 10: 78,003,347 (GRCm39) N102D probably damaging Het
Glg1 A C 8: 111,926,806 (GRCm39) S170A possibly damaging Het
Gpx3 A T 11: 54,798,025 (GRCm39) I54F probably damaging Het
H6pd G A 4: 150,067,184 (GRCm39) H401Y probably damaging Het
Hspb8 A G 5: 116,560,457 (GRCm39) S28P probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Krt9 A T 11: 100,081,640 (GRCm39) D296E probably damaging Het
Lcor C T 19: 41,571,518 (GRCm39) T237I probably benign Het
Lnx1 A G 5: 74,768,541 (GRCm39) V349A possibly damaging Het
Map3k6 A T 4: 132,977,397 (GRCm39) S915C probably damaging Het
Mecom C A 3: 30,034,717 (GRCm39) A510S possibly damaging Het
Mettl14 A G 3: 123,167,686 (GRCm39) I224T probably damaging Het
Mme T C 3: 63,251,056 (GRCm39) probably null Het
Nbea T A 3: 55,912,227 (GRCm39) T1187S probably benign Het
Ndor1 T C 2: 25,138,154 (GRCm39) T444A possibly damaging Het
Nhlrc1 A G 13: 47,167,657 (GRCm39) L200P possibly damaging Het
Npc1 G T 18: 12,334,751 (GRCm39) S667* probably null Het
Nscme3l A C 19: 5,553,253 (GRCm39) I176S probably damaging Het
Or14a256 C T 7: 86,265,218 (GRCm39) V212I probably benign Het
Or1l8 T A 2: 36,817,595 (GRCm39) H177L possibly damaging Het
Or4c109 T A 2: 88,817,721 (GRCm39) D275V probably benign Het
Or51d1 T A 7: 102,348,310 (GRCm39) N288K possibly damaging Het
Or5g9 T A 2: 85,551,928 (GRCm39) Y60N probably damaging Het
Pds5a A C 5: 65,791,630 (GRCm39) I773R possibly damaging Het
Pgr T A 9: 8,964,839 (GRCm39) probably null Het
Plscr4 A T 9: 92,372,819 (GRCm39) M314L probably benign Het
Polr2m A G 9: 71,390,752 (GRCm39) V46A probably benign Het
Ptk2b T A 14: 66,424,923 (GRCm39) M174L possibly damaging Het
Sec31a A T 5: 100,534,008 (GRCm39) F521I probably benign Het
Serpinb3d T C 1: 107,011,071 (GRCm39) N47S probably benign Het
Shld2 T C 14: 33,989,971 (GRCm39) S312G probably benign Het
Slc24a3 T A 2: 145,448,750 (GRCm39) D431E probably benign Het
Slc34a1 C A 13: 23,996,569 (GRCm39) H25N probably damaging Het
Slc9a9 T C 9: 94,567,191 (GRCm39) F87L probably benign Het
Spata31 T A 13: 65,065,456 (GRCm39) S54T possibly damaging Het
Spata6 T C 4: 111,632,020 (GRCm39) S144P probably damaging Het
Sppl2c A G 11: 104,077,595 (GRCm39) N132D probably benign Het
Ssu2 C T 6: 112,351,793 (GRCm39) G311S probably damaging Het
Syne1 T A 10: 5,104,531 (GRCm39) Q6328L possibly damaging Het
Tie1 T C 4: 118,330,062 (GRCm39) T1054A possibly damaging Het
Tnfaip6 T G 2: 51,942,328 (GRCm39) D212E probably benign Het
Tnxb A G 17: 34,909,166 (GRCm39) T1442A probably damaging Het
Trim35 C T 14: 66,546,244 (GRCm39) T337M probably damaging Het
Vipr1 T C 9: 121,498,489 (GRCm39) V413A probably benign Het
Vmn1r19 C G 6: 57,381,578 (GRCm39) Q44E probably damaging Het
Zfp1002 T C 2: 150,097,246 (GRCm39) D61G probably benign Het
Zfp266 G T 9: 20,410,577 (GRCm39) H533Q probably damaging Het
Zfp689 T C 7: 127,043,896 (GRCm39) S245G 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
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
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
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'- TTCCCAAGCTCAGAGTGCTG -3'
(R):5'- CTGCTGCAATAATATTCAGGATCTCTC -3'

Sequencing Primer
(F):5'- TTCTCTGTGTCTTAACAGCAGTGAG -3'
(R):5'- CTATGCAGTTTTTTCTGCAC -3'
Posted On 2018-05-21