Incidental Mutation 'R7442:Caps2'
ID 577033
Institutional Source Beutler Lab
Gene Symbol Caps2
Ensembl Gene ENSMUSG00000035694
Gene Name calcyphosphine 2
Synonyms D630005B03Rik
MMRRC Submission 045518-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7442 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 111999526-112052460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 112044259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 486 (R486L)
Ref Sequence ENSEMBL: ENSMUSP00000129887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092176] [ENSMUST00000170013]
AlphaFold Q8BUG5
Predicted Effect probably benign
Transcript: ENSMUST00000092176
AA Change: R444L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694
AA Change: R444L

DomainStartEndE-ValueType
Pfam:EF-hand_6 384 420 2e-4 PFAM
Blast:EFh 457 485 5e-11 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000170013
AA Change: R486L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: R486L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,946,919 (GRCm39) I109T probably damaging Het
A430033K04Rik T C 5: 138,645,509 (GRCm39) S465P possibly damaging Het
Acap3 T C 4: 155,990,078 (GRCm39) F753L probably damaging Het
Adam9 A T 8: 25,457,223 (GRCm39) V635E probably damaging Het
Adgre4 T A 17: 56,159,340 (GRCm39) V675E probably benign Het
Anapc4 T C 5: 53,014,543 (GRCm39) Y469H probably benign Het
Ankdd1b T G 13: 96,561,268 (GRCm39) K325N possibly damaging Het
Aox1 T C 1: 58,121,172 (GRCm39) V881A probably damaging Het
Arhgap5 A G 12: 52,563,739 (GRCm39) T237A probably benign Het
Asah1 T C 8: 41,796,602 (GRCm39) D331G possibly damaging Het
Atp5f1a G A 18: 77,866,820 (GRCm39) R231H probably benign Het
Bod1l G A 5: 41,964,522 (GRCm39) P2694L probably damaging Het
Bst1 T C 5: 43,979,084 (GRCm39) S143P probably benign Het
Cacna1b A C 2: 24,497,513 (GRCm39) S2132A probably benign Het
Ccdc168 A G 1: 44,097,868 (GRCm39) S1077P possibly damaging Het
Cd68 T C 11: 69,556,754 (GRCm39) T18A probably benign Het
Cdk8 T C 5: 146,229,579 (GRCm39) probably null Het
Col18a1 A T 10: 76,932,072 (GRCm39) I127N unknown Het
Dsc3 T C 18: 20,114,213 (GRCm39) D347G probably damaging Het
Dyrk2 T C 10: 118,695,786 (GRCm39) S491G probably damaging Het
Edem1 T A 6: 108,828,266 (GRCm39) Y530* probably null Het
Enc1 A T 13: 97,383,248 (GRCm39) H586L probably benign Het
Ephb6 T G 6: 41,594,981 (GRCm39) probably null Het
Etv5 G T 16: 22,254,809 (GRCm39) Q48K probably damaging Het
Exoc3l A G 8: 106,019,558 (GRCm39) W404R probably damaging Het
Fbn1 C A 2: 125,245,132 (GRCm39) A252S possibly damaging Het
Foxe3 A G 4: 114,782,490 (GRCm39) S241P unknown Het
Gm49380 T A 9: 44,023,709 (GRCm39) M180L probably benign Het
Hoxd1 A T 2: 74,593,903 (GRCm39) D153V probably damaging Het
Ifi207 C T 1: 173,554,997 (GRCm39) S895N probably benign Het
Igf1r G A 7: 67,823,026 (GRCm39) V385M probably damaging Het
Ints9 C T 14: 65,232,513 (GRCm39) Q191* probably null Het
Ktn1 A G 14: 47,952,097 (GRCm39) E979G probably benign Het
Lama3 G A 18: 12,605,238 (GRCm39) probably null Het
Lrtm2 C T 6: 119,294,392 (GRCm39) M246I probably damaging Het
Mdm1 T C 10: 117,982,590 (GRCm39) V75A probably benign Het
Mia3 T C 1: 183,140,220 (GRCm39) E165G probably benign Het
Mrps21 T C 3: 95,770,128 (GRCm39) E67G probably damaging Het
Mybpc1 A C 10: 88,362,155 (GRCm39) I995S probably damaging Het
Mylk2 T G 2: 152,753,346 (GRCm39) probably benign Het
Myo16 G A 8: 10,322,537 (GRCm39) C11Y probably damaging Het
Nudt18 A C 14: 70,816,798 (GRCm39) D134A probably benign Het
Obox1 G T 7: 15,289,491 (GRCm39) K93N probably benign Het
Or12d2 T A 17: 37,624,816 (GRCm39) H153L possibly damaging Het
Or2r3 A T 6: 42,448,434 (GRCm39) M226K probably benign Het
Or56a4 T C 7: 104,806,289 (GRCm39) Y200C probably damaging Het
Or5ar1 A T 2: 85,672,096 (GRCm39) V13D probably benign Het
Pkd2l1 T C 19: 44,145,668 (GRCm39) H185R probably benign Het
Ptpn18 A G 1: 34,501,831 (GRCm39) T48A probably benign Het
Ptprd A T 4: 75,978,058 (GRCm39) Y583* probably null Het
Ptprk G A 10: 28,450,815 (GRCm39) G992D probably damaging Het
Setdb2 A G 14: 59,656,700 (GRCm39) F206L probably damaging Het
Slain1 A G 14: 103,923,150 (GRCm39) D247G probably damaging Het
Slc10a2 A T 8: 5,139,086 (GRCm39) V286E possibly damaging Het
Slc44a2 C T 9: 21,256,819 (GRCm39) T367I probably damaging Het
Slco4a1 T C 2: 180,115,919 (GRCm39) V685A probably benign Het
Srp54c T A 12: 55,302,347 (GRCm39) Y333N probably damaging Het
Srrm2 T C 17: 24,039,091 (GRCm39) S1912P unknown Het
St7l A G 3: 104,796,645 (GRCm39) T253A possibly damaging Het
Styxl2 T C 1: 165,928,584 (GRCm39) K343E probably benign Het
Sun3 T G 11: 8,981,445 (GRCm39) Y53S possibly damaging Het
Tktl2 A G 8: 66,965,561 (GRCm39) N373S possibly damaging Het
Tmco3 T A 8: 13,370,781 (GRCm39) S648R probably damaging Het
Tmem178 T A 17: 81,252,185 (GRCm39) V23D probably damaging Het
Tmem229a C A 6: 24,955,689 (GRCm39) G22W probably damaging Het
Top3a C T 11: 60,644,744 (GRCm39) S320N possibly damaging Het
Treml1 C A 17: 48,673,719 (GRCm39) D243E probably damaging Het
Trim42 C T 9: 97,244,998 (GRCm39) V601M probably damaging Het
Ttn A G 2: 76,573,350 (GRCm39) S25848P probably damaging Het
Vmn1r86 A T 7: 12,835,983 (GRCm39) F298I possibly damaging Het
Vmn2r96 T C 17: 18,793,662 (GRCm39) F2S probably benign Het
Xpc A G 6: 91,481,631 (GRCm39) L230P probably damaging Het
Xpo4 A G 14: 57,867,680 (GRCm39) V189A probably benign Het
Zfhx3 A G 8: 109,519,468 (GRCm39) T197A probably damaging Het
Zswim1 A G 2: 164,667,710 (GRCm39) K321E 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
R6476:Caps2 UTSW 10 112,011,465 (GRCm39) missense possibly damaging 0.66
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'- TCAGTAGGTTACCTTGTCTAGAGC -3'
(R):5'- AAACCCAGTGTGTATTACAGCC -3'

Sequencing Primer
(F):5'- AGGTTACCTTGTCTAGAGCCACAG -3'
(R):5'- CCCAGTGTGTATTACAGCCAAAATG -3'
Posted On 2019-10-07