Incidental Mutation 'R1996:Caps2'
ID225761
Institutional Source Beutler Lab
Gene Symbol Caps2
Ensembl Gene ENSMUSG00000035694
Gene Namecalcyphosphine 2
Synonyms
MMRRC Submission 040006-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R1996 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location112163621-112216555 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 112204003 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 450 (L450Q)
Ref Sequence ENSEMBL: ENSMUSP00000129887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092176] [ENSMUST00000170013]
Predicted Effect probably damaging
Transcript: ENSMUST00000092176
AA Change: L408Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694
AA Change: L408Q

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 damaging
Transcript: ENSMUST00000170013
AA Change: L450Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: L450Q

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
Meta Mutation Damage Score 0.37 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 99% (84/85)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,669,597 W1069R probably damaging Het
Aaas C T 15: 102,340,059 V241I probably benign Het
Abca3 A G 17: 24,387,532 E787G probably damaging Het
Abi3bp A T 16: 56,671,357 E582D possibly damaging Het
Adam21 A G 12: 81,559,602 M462T possibly damaging Het
Alox12e T C 11: 70,316,208 T591A probably benign Het
Ankmy2 T C 12: 36,193,797 M337T probably benign Het
Antxrl A G 14: 34,075,829 N587S probably benign Het
Apol6 T A 15: 77,050,756 I75N probably benign Het
Atad2b A T 12: 4,990,883 H184L probably benign Het
Atf6b A T 17: 34,652,987 probably null Het
AU022751 GTCATCATCATCATC GTCATCATCATCATCATC X: 6,082,591 probably benign Het
B3gnt4 G A 5: 123,511,339 V256I probably damaging Het
BC034090 C T 1: 155,221,594 probably benign Het
Bend4 C A 5: 67,400,184 V430F probably damaging Het
Camkv A G 9: 107,947,121 D244G probably damaging Het
Ccr1 T A 9: 123,963,514 K326N probably benign Het
Cep135 T C 5: 76,632,266 I815T probably benign Het
Chchd4 A G 6: 91,465,134 Y101H probably damaging Het
Copb1 G C 7: 114,232,203 A570G probably benign Het
Cpsf2 C A 12: 101,998,608 T505K probably benign Het
Cwf19l2 A G 9: 3,417,947 R136G probably benign Het
Daxx A G 17: 33,913,611 T572A possibly damaging Het
Etaa1 C A 11: 17,952,671 D89Y probably damaging Het
Fchsd2 T C 7: 101,278,453 F701L probably benign Het
Fstl5 A T 3: 76,707,834 H734L probably benign Het
Gabbr1 T A 17: 37,069,220 W584R probably damaging Het
Galc T C 12: 98,252,026 D189G probably damaging Het
Gm4778 A T 3: 94,265,711 M9L probably benign Het
Gm9979 T C 13: 40,705,752 noncoding transcript Het
Grin2b T C 6: 136,044,211 S31G possibly damaging Het
Gtf2ird1 T C 5: 134,376,886 probably benign Het
Hoxc4 T C 15: 103,035,757 I187T probably damaging Het
Hsd3b6 A T 3: 98,806,281 I234N probably damaging Het
Ifit3b T C 19: 34,611,477 C18R probably damaging Het
Igdcc4 T A 9: 65,121,819 V246E probably damaging Het
Il1rap A T 16: 26,722,493 T495S probably benign Het
Kctd19 T C 8: 105,395,300 E205G probably null Het
Kif21a A T 15: 90,994,371 C235* probably null Het
Krt16 A T 11: 100,248,788 S35T unknown Het
Lamc2 T C 1: 153,154,470 D142G possibly damaging Het
Larp4 G T 15: 99,984,963 W22L probably damaging Het
Ldlrad1 C T 4: 107,214,961 R127* probably null Het
Mamdc2 G A 19: 23,363,925 Q229* probably null Het
Mbtd1 CT CTT 11: 93,932,396 probably null Het
Msln T A 17: 25,754,219 M1L possibly damaging Het
Mtch2 T C 2: 90,847,321 V8A possibly damaging Het
Nav3 A T 10: 109,853,401 N338K probably damaging Het
Olfr248 T C 1: 174,391,417 M116T probably damaging Het
Olfr33 A G 7: 102,713,792 L207P probably damaging Het
Olfr774 C A 10: 129,238,429 N93K possibly damaging Het
Otof A G 5: 30,421,037 V89A probably benign Het
Phka2 T C X: 160,541,415 I255T probably benign Het
Pias2 T C 18: 77,129,063 probably null Het
Pja2 T A 17: 64,287,644 probably null Het
Plxnb2 C T 15: 89,158,768 V1473I probably benign Het
Pnpt1 T A 11: 29,141,679 D363E probably benign Het
Prdm5 A G 6: 65,936,088 Y207C probably damaging Het
Rexo5 T A 7: 119,823,857 V304E probably damaging Het
Robo1 G T 16: 72,970,179 R413L probably benign Het
Rsf1 G A 7: 97,664,632 E864K probably damaging Het
Scap C T 9: 110,372,971 probably benign Het
Scn8a T A 15: 101,024,379 M1311K probably damaging Het
Slc28a2 A T 2: 122,455,562 I460F probably damaging Het
Smco1 A G 16: 32,273,912 R134G probably benign Het
Sspo A G 6: 48,475,490 E2651G possibly damaging Het
Stab2 T C 10: 87,003,031 N57S probably damaging Het
Tenm3 C A 8: 48,228,668 Q2642H probably damaging Het
Thsd7b G T 1: 129,758,451 E577* probably null Het
Tlr3 A G 8: 45,397,697 V721A probably benign Het
Tnik A G 3: 28,665,680 I1226V probably damaging Het
Traf3 A G 12: 111,260,661 K328E probably benign Het
Tyw1 T A 5: 130,262,811 probably benign Het
Vmn1r213 T G 13: 23,012,303 V352G probably benign Het
Vmn2r111 T C 17: 22,548,081 I812V probably benign Het
Vmn2r26 A G 6: 124,061,185 N573S probably damaging Het
Vmn2r45 G A 7: 8,472,025 T668I probably damaging Het
Zbtb20 T A 16: 43,610,080 V318E probably damaging Het
Zc2hc1c A G 12: 85,296,660 R524G probably benign Het
Zc3h18 C G 8: 122,407,387 probably benign Het
Zfp618 T C 4: 63,131,215 probably null 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
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
R6368:Caps2 UTSW 10 112194968 nonsense probably null
R6476:Caps2 UTSW 10 112175560 missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- AAGCTTGGTGCACAGAAGC -3'
(R):5'- CTGGCTATAAAACACTTCAGAAGC -3'

Sequencing Primer
(F):5'- GCAATTAGCTCCCCTCTCTC -3'
(R):5'- CACTTCAGAAGCATATGATAAAGGG -3'
Posted On2014-08-25