Incidental Mutation 'R6368:Caps2'
ID512803
Institutional Source Beutler Lab
Gene Symbol Caps2
Ensembl Gene ENSMUSG00000035694
Gene Namecalcyphosphine 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R6368 (G1)
Quality Score225.009
Status Not validated
Chromosome10
Chromosomal Location112163621-112216555 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 112194968 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 268 (Q268*)
Ref Sequence ENSEMBL: ENSMUSP00000129887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092176] [ENSMUST00000170013]
Predicted Effect probably null
Transcript: ENSMUST00000092176
AA Change: Q226*
SMART Domains Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694
AA Change: Q226*

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 null
Transcript: ENSMUST00000170013
AA Change: Q268*
SMART Domains Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: Q268*

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: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik C A 9: 55,990,132 E272D possibly damaging Het
Abi2 A G 1: 60,453,651 T158A possibly damaging Het
Acacb T C 5: 114,216,823 S1221P probably damaging Het
Agbl1 A G 7: 76,419,830 D370G probably benign Het
Apeh A G 9: 108,087,243 I487T probably damaging Het
Arid1b C A 17: 5,332,533 N1297K possibly damaging Het
Ascc3 G A 10: 50,699,985 G779S probably damaging Het
Atp7b A C 8: 22,020,755 probably null Het
Bsn C T 9: 108,111,314 probably benign Het
Cnfn C T 7: 25,367,961 probably null Het
Cr2 A G 1: 195,168,472 S229P probably damaging Het
Cubn T C 2: 13,430,995 Y1050C probably damaging Het
Cubn T C 2: 13,476,123 E307G probably damaging Het
Cyb5r3 A C 15: 83,160,124 Y182D possibly damaging Het
Dclre1a A T 19: 56,546,791 H120Q probably benign Het
Ddx6 T C 9: 44,635,776 I457T probably damaging Het
E2f1 A T 2: 154,564,476 H93Q possibly damaging Het
Fam186a T C 15: 99,943,317 K1682R possibly damaging Het
Farsb A G 1: 78,466,965 probably null Het
Flii A T 11: 60,721,136 L347Q probably damaging Het
Galntl6 T G 8: 58,911,441 T12P probably damaging Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gm21680 T C 5: 25,969,036 N190S probably damaging Het
Ifit1bl2 T C 19: 34,619,125 S364G probably benign Het
Kdm2a A G 19: 4,350,317 I234T probably damaging Het
Kdm5b T C 1: 134,599,207 C356R probably damaging Het
Kel A T 6: 41,688,851 C174* probably null Het
Krt16 T A 11: 100,246,676 D401V probably damaging Het
Ltb4r1 A C 14: 55,767,743 I168L probably benign Het
Luzp1 T A 4: 136,541,780 M438K probably benign Het
Mtf1 C T 4: 124,824,352 T281M probably damaging Het
Myo9a T A 9: 59,924,948 S2587T probably benign Het
Olfr1311 A T 2: 112,021,551 I101N probably damaging Het
Olfr1377 T A 11: 50,984,786 F28L probably benign Het
Olfr532 G T 7: 140,419,667 Y35* probably null Het
Olfr860 T C 9: 19,846,409 D70G probably damaging Het
Pcm1 T A 8: 41,293,544 F1221Y probably benign Het
Pnldc1 A T 17: 12,905,864 N90K probably damaging Het
Prickle2 A T 6: 92,420,237 L169Q probably damaging Het
Ralgps2 A T 1: 156,884,574 L147I probably damaging Het
Rfx3 A T 19: 27,768,609 L674Q possibly damaging Het
Rpl3 C A 15: 80,082,544 L14F probably damaging Het
Rrbp1 C T 2: 143,989,555 G231R probably damaging Het
Sema3d C T 5: 12,571,013 L529F probably damaging Het
Slain1 A T 14: 103,656,955 T193S probably benign Het
Slc2a6 G T 2: 27,024,587 Q256K possibly damaging Het
Slk A G 19: 47,620,183 E525G possibly damaging Het
Spsb4 G T 9: 96,944,645 Q252K probably benign Het
Taf1b A G 12: 24,558,257 T552A possibly damaging Het
Tmprss15 T C 16: 79,006,057 probably null Het
Tph2 T C 10: 115,179,326 H177R probably damaging Het
Ttll1 A G 15: 83,489,617 S332P probably damaging Het
Twf2 T G 9: 106,212,833 N128K probably benign Het
Vegfc T A 8: 54,181,230 C315S probably damaging Het
Vmn2r111 T A 17: 22,571,908 K136N probably benign Het
Wnk2 T C 13: 49,061,338 E496G probably damaging Het
Zfp148 C A 16: 33,497,198 Q705K probably damaging Het
Zw10 C T 9: 49,073,235 A539V probably damaging Het
Other mutations in Caps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01888:Caps2 APN 10 112183060 missense probably damaging 1.00
IGL02159:Caps2 APN 10 112204023 missense probably benign 0.25
IGL02412:Caps2 APN 10 112204036 critical splice donor site probably null
IGL03380:Caps2 APN 10 112200696 missense probably benign 0.05
R0601:Caps2 UTSW 10 112195790 missense possibly damaging 0.95
R0658:Caps2 UTSW 10 112204038 splice site probably benign
R0846:Caps2 UTSW 10 112215585 missense probably damaging 1.00
R1472:Caps2 UTSW 10 112179472 missense probably benign 0.26
R1711:Caps2 UTSW 10 112190978 missense possibly damaging 0.86
R1834:Caps2 UTSW 10 112195718 missense possibly damaging 0.89
R1990:Caps2 UTSW 10 112200686 missense probably benign 0.01
R1996:Caps2 UTSW 10 112204003 missense probably damaging 1.00
R2077:Caps2 UTSW 10 112199727 missense possibly damaging 0.71
R3161:Caps2 UTSW 10 112182486 nonsense probably null
R3162:Caps2 UTSW 10 112182486 nonsense probably null
R3162:Caps2 UTSW 10 112182486 nonsense probably null
R3716:Caps2 UTSW 10 112200732 missense probably benign 0.00
R4702:Caps2 UTSW 10 112208347 missense probably damaging 1.00
R4978:Caps2 UTSW 10 112182494 missense probably benign 0.04
R5285:Caps2 UTSW 10 112208311 missense probably benign
R5911:Caps2 UTSW 10 112165686 start gained probably benign
R5933:Caps2 UTSW 10 112215446 missense probably benign 0.38
R6476:Caps2 UTSW 10 112175560 missense possibly damaging 0.66
R7442:Caps2 UTSW 10 112208354 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTCCAAACTTTGTCTCTGTAAC -3'
(R):5'- AAAGCCATCTTCTTTGTCATAGCC -3'

Sequencing Primer
(F):5'- CTGTAACTCCTTCCATGGGTG -3'
(R):5'- AGTTAACATATTTGCACCACAGTATC -3'
Posted On2018-04-27