Incidental Mutation 'R3893:Gca'
ID310024
Institutional Source Beutler Lab
Gene Symbol Gca
Ensembl Gene ENSMUSG00000026893
Gene Namegrancalcin
Synonyms
MMRRC Submission 040805-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #R3893 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location62664285-62694109 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62679220 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 89 (Y89C)
Ref Sequence ENSEMBL: ENSMUSP00000028257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028257]
Predicted Effect probably damaging
Transcript: ENSMUST00000028257
AA Change: Y89C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028257
Gene: ENSMUSG00000026893
AA Change: Y89C

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
EFh 96 124 1.4e0 SMART
EFh 126 154 4.29e-1 SMART
Meta Mutation Damage Score 0.2489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (42/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T A 1: 37,631,458 M134L probably benign Het
2610303G11Rik A T 9: 98,186,811 noncoding transcript Het
Adam19 C T 11: 46,128,838 A455V probably damaging Het
Akr1c19 G A 13: 4,238,442 D140N probably damaging Het
Atoh1 A G 6: 64,730,133 T271A probably damaging Het
Atp6v0a2 G A 5: 124,639,265 R168Q probably damaging Het
B930094E09Rik G A 18: 31,609,689 S59N unknown Het
Cadps A G 14: 12,488,883 probably benign Het
Cfap69 A T 5: 5,581,245 V61E probably damaging Het
Chd5 A G 4: 152,360,656 R365G probably damaging Het
Dnajc18 A T 18: 35,700,995 probably null Het
Fam49a T C 12: 12,362,525 V232A probably benign Het
Fmnl1 T A 11: 103,196,757 probably benign Het
Gcnt2 A G 13: 40,860,446 Y31C probably benign Het
Gem C T 4: 11,705,889 probably benign Het
Ggps1 T C 13: 14,053,699 K300E probably benign Het
Gpc5 T C 14: 115,370,060 M358T probably benign Het
Gprin3 T C 6: 59,354,479 Y281C probably benign Het
H2-M11 A G 17: 36,547,090 T6A probably benign Het
Lrp5 G A 19: 3,612,330 R173C probably damaging Het
Lrrk1 T C 7: 66,278,520 probably benign Het
Macf1 A G 4: 123,486,406 Y1298H probably damaging Het
Micu3 C T 8: 40,366,224 L315F probably damaging Het
Pkd1 G A 17: 24,572,110 probably null Het
Pkhd1 A T 1: 20,312,138 Y2596* probably null Het
Pnliprp2 A G 19: 58,766,273 S250G probably benign Het
Prkcq A C 2: 11,226,971 E35A probably damaging Het
Prpf8 C A 11: 75,500,257 S1377R possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rsbn1l C T 5: 20,905,840 R500H probably damaging Het
Sart3 C T 5: 113,746,636 E636K probably benign Het
Skint3 A G 4: 112,253,918 K80R probably damaging Het
Slc11a1 G A 1: 74,384,706 A398T probably damaging Het
Sspo G T 6: 48,476,571 E2887* probably null Het
Tmc5 A C 7: 118,645,369 Y490S probably damaging Het
Tmem181a T A 17: 6,295,786 L185H probably damaging Het
Tnfsf8 G T 4: 63,860,959 T34K possibly damaging Het
Trim5 T A 7: 104,276,835 N173I probably damaging Het
Vkorc1l1 A T 5: 129,982,271 I109L probably benign Het
Vmn1r214 A G 13: 23,034,641 T102A probably benign Het
Wdr19 A G 5: 65,228,292 D579G possibly damaging Het
Zc3h6 A G 2: 129,016,140 Y697C probably damaging Het
Zfp955b T C 17: 33,302,994 I479T probably benign Het
Other mutations in Gca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Gca APN 2 62690443 nonsense probably null
IGL02754:Gca APN 2 62672358 missense probably benign
ANU05:Gca UTSW 2 62690443 nonsense probably null
R2510:Gca UTSW 2 62689974 missense probably damaging 0.99
R3433:Gca UTSW 2 62689974 missense probably damaging 0.99
R7299:Gca UTSW 2 62689976 missense probably benign 0.00
R7462:Gca UTSW 2 62672409 missense possibly damaging 0.71
R8297:Gca UTSW 2 62686356 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTTTGCTGGCAATGTTCG -3'
(R):5'- GCCTGGAAGCAAAATCTGAAC -3'

Sequencing Primer
(F):5'- GCTGGCAATGTTCGTTATATAGATTC -3'
(R):5'- ATTCTGAGTTCAAGGCCAGC -3'
Posted On2015-04-17