Incidental Mutation 'IGL02754:Gca'
ID 306346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gca
Ensembl Gene ENSMUSG00000026893
Gene Name grancalcin
Synonyms 5133401E04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL02754
Quality Score
Status
Chromosome 2
Chromosomal Location 62494671-62524453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62502702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 37 (S37P)
Ref Sequence ENSEMBL: ENSMUSP00000028257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028257]
AlphaFold Q8VC88
Predicted Effect probably benign
Transcript: ENSMUST00000028257
AA Change: S37P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028257
Gene: ENSMUSG00000026893
AA Change: S37P

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
EFh 96 124 1.4e0 SMART
EFh 126 154 4.29e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120183
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal. However they do demonstrate an increased resistance to endotoxic shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T A 9: 39,507,922 (GRCm39) R405* probably null Het
AW551984 C T 9: 39,504,624 (GRCm39) probably null Het
Bdp1 T C 13: 100,197,481 (GRCm39) E968G possibly damaging Het
Ccdc68 T C 18: 70,076,935 (GRCm39) probably null Het
Ccdc87 T A 19: 4,889,889 (GRCm39) L127H probably damaging Het
Cdk5r1 G T 11: 80,368,569 (GRCm39) A79S probably benign Het
Cdyl A T 13: 35,867,725 (GRCm39) probably benign Het
Cfdp1 A G 8: 112,580,766 (GRCm39) probably benign Het
Chi3l1 A T 1: 134,111,339 (GRCm39) I62F probably damaging Het
Cnot1 A T 8: 96,481,706 (GRCm39) I789K probably benign Het
Cobl T C 11: 12,204,371 (GRCm39) K695R probably damaging Het
Cobl C A 11: 12,204,370 (GRCm39) K752N probably damaging Het
Cstdc5 G A 16: 36,179,899 (GRCm39) P73S probably benign Het
Dcaf6 T C 1: 165,165,915 (GRCm39) probably null Het
Ece2 A T 16: 20,451,398 (GRCm39) I197F probably damaging Het
Eif2b5 T G 16: 20,321,536 (GRCm39) V363G possibly damaging Het
Ghsr A C 3: 27,426,645 (GRCm39) I234L probably damaging Het
Grin3b A T 10: 79,808,723 (GRCm39) I158F possibly damaging Het
Gtf2h2 A T 13: 100,617,747 (GRCm39) D178E probably damaging Het
Herc2 A G 7: 55,747,246 (GRCm39) E461G probably damaging Het
Hsph1 T A 5: 149,547,057 (GRCm39) N531I possibly damaging Het
Insl6 G T 19: 29,302,529 (GRCm39) Q63K probably benign Het
Lrp1b T C 2: 40,592,806 (GRCm39) N3771S probably benign Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lvrn C T 18: 47,023,971 (GRCm39) Q773* probably null Het
Mterf1b T C 5: 4,246,478 (GRCm39) F40L possibly damaging Het
Nrg1 G A 8: 32,316,391 (GRCm39) probably benign Het
Or10ak13 T A 4: 118,639,117 (GRCm39) I222F possibly damaging Het
Or1n1 T A 2: 36,750,232 (GRCm39) I43F probably damaging Het
Or5p79 T C 7: 108,221,880 (GRCm39) I287T possibly damaging Het
Pax5 C T 4: 44,570,059 (GRCm39) V319I probably damaging Het
Plcz1 T A 6: 139,956,307 (GRCm39) T321S probably benign Het
Plekha6 A G 1: 133,212,676 (GRCm39) E660G probably damaging Het
Prep T C 10: 44,943,428 (GRCm39) M1T probably null Het
Prickle1 C T 15: 93,399,034 (GRCm39) S598N possibly damaging Het
Prtn3 A G 10: 79,716,932 (GRCm39) Q99R probably benign Het
Rad50 A G 11: 53,592,883 (GRCm39) V89A probably damaging Het
Ret T C 6: 118,153,213 (GRCm39) Y485C probably benign Het
Setd2 T A 9: 110,379,124 (GRCm39) F980I possibly damaging Het
Slc44a4 A G 17: 35,140,279 (GRCm39) Y228C probably damaging Het
Tex10 C T 4: 48,435,028 (GRCm39) C779Y possibly damaging Het
Tfdp2 T G 9: 96,199,592 (GRCm39) S285A probably benign Het
Thsd4 T A 9: 59,896,380 (GRCm39) probably benign Het
Tmem106a A C 11: 101,481,219 (GRCm39) E242D probably benign Het
Ttc22 T C 4: 106,495,669 (GRCm39) V341A probably benign Het
Ubr4 T A 4: 139,138,095 (GRCm39) S1151T probably damaging Het
Ubr4 G A 4: 139,120,470 (GRCm39) probably null Het
Vmn1r206 A T 13: 22,805,060 (GRCm39) L49* probably null Het
Vmn1r233 A T 17: 21,214,887 (GRCm39) F21Y probably benign Het
Vmn1r233 A T 17: 21,214,886 (GRCm39) F21L probably benign Het
Vmn2r15 A T 5: 109,441,134 (GRCm39) C241* probably null Het
Zmym6 T A 4: 127,003,764 (GRCm39) probably benign Het
Other mutations in Gca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Gca APN 2 62,520,787 (GRCm39) nonsense probably null
ANU05:Gca UTSW 2 62,520,787 (GRCm39) nonsense probably null
R2510:Gca UTSW 2 62,520,318 (GRCm39) missense probably damaging 0.99
R3433:Gca UTSW 2 62,520,318 (GRCm39) missense probably damaging 0.99
R3893:Gca UTSW 2 62,509,564 (GRCm39) missense probably damaging 1.00
R7299:Gca UTSW 2 62,520,320 (GRCm39) missense probably benign 0.00
R7462:Gca UTSW 2 62,502,753 (GRCm39) missense possibly damaging 0.71
R8297:Gca UTSW 2 62,516,700 (GRCm39) missense probably benign 0.00
R9172:Gca UTSW 2 62,520,368 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16