Incidental Mutation 'R3433:Gca'
ID 266269
Institutional Source Beutler Lab
Gene Symbol Gca
Ensembl Gene ENSMUSG00000026893
Gene Name grancalcin
Synonyms 5133401E04Rik
MMRRC Submission 040651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R3433 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 62494671-62524453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 62520318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 159 (S159R)
Ref Sequence ENSEMBL: ENSMUSP00000028257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028257] [ENSMUST00000075052]
AlphaFold Q8VC88
Predicted Effect probably damaging
Transcript: ENSMUST00000028257
AA Change: S159R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028257
Gene: ENSMUSG00000026893
AA Change: S159R

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 probably benign
Transcript: ENSMUST00000075052
SMART Domains Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742

DomainStartEndE-ValueType
PAS 20 87 8.97e0 SMART
PAC 93 135 3.48e-1 SMART
Pfam:Ion_trans 407 674 4.9e-39 PFAM
Pfam:Ion_trans_2 588 668 3.2e-13 PFAM
cNMP 745 863 1.5e-23 SMART
low complexity region 921 940 N/A INTRINSIC
coiled coil region 1022 1058 N/A INTRINSIC
low complexity region 1114 1127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148083
Meta Mutation Damage Score 0.3994 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,893,455 (GRCm39) W1302R probably damaging Het
Abcf1 A G 17: 36,269,109 (GRCm39) Y689H probably benign Het
Adamtsl5 T C 10: 80,178,725 (GRCm39) T218A probably benign Het
Ahnak G T 19: 8,987,358 (GRCm39) V2881L probably benign Het
Atp6v1b1 C A 6: 83,720,074 (GRCm39) T3K possibly damaging Het
Atp8b5 A T 4: 43,372,697 (GRCm39) R1112S probably benign Het
Carmil3 A G 14: 55,745,151 (GRCm39) D1331G probably benign Het
Catsperg2 A G 7: 29,400,643 (GRCm39) F696S possibly damaging Het
Cd33 T C 7: 43,179,331 (GRCm39) T273A probably benign Het
Cenpf C T 1: 189,392,146 (GRCm39) C562Y probably damaging Het
Cep192 A G 18: 67,967,963 (GRCm39) R816G probably benign Het
Cnot11 G A 1: 39,584,268 (GRCm39) probably null Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Dnah9 T C 11: 65,965,938 (GRCm39) M1693V possibly damaging Het
Fbxo41 A G 6: 85,454,613 (GRCm39) I701T probably damaging Het
Figla G T 6: 85,994,411 (GRCm39) R62L probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10845 C T 14: 80,100,851 (GRCm39) noncoding transcript Het
Gm5114 T C 7: 39,058,621 (GRCm39) K333E probably benign Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Il6st A G 13: 112,640,365 (GRCm39) K653E probably damaging Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Leng8 C A 7: 4,145,131 (GRCm39) T177K probably benign Het
Lrrtm2 A C 18: 35,346,950 (GRCm39) S117R probably damaging Het
Megf8 G T 7: 25,059,549 (GRCm39) A2285S probably benign Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Myo18a G T 11: 77,708,870 (GRCm39) probably null Het
Nars1 A T 18: 64,642,374 (GRCm39) M156K probably damaging Het
Ndor1 A G 2: 25,137,823 (GRCm39) S499P possibly damaging Het
Or2a57 A T 6: 43,212,607 (GRCm39) I22F probably damaging Het
Or2r11 G A 6: 42,437,888 (GRCm39) H22Y probably benign Het
Or4a78 T C 2: 89,497,577 (GRCm39) I218V probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Ros1 A G 10: 51,967,204 (GRCm39) Y1668H probably benign Het
Rrbp1 A G 2: 143,794,200 (GRCm39) probably benign Het
Rtn4rl2 T C 2: 84,702,444 (GRCm39) Y376C probably damaging Het
Seh1l A C 18: 67,926,222 (GRCm39) K358T probably benign Het
Sema3e A T 5: 14,302,728 (GRCm39) Y751F probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spred2 G T 11: 19,948,277 (GRCm39) E91* probably null Het
Sspo A T 6: 48,452,885 (GRCm39) probably null Het
Tcaf1 A G 6: 42,663,508 (GRCm39) V124A probably damaging Het
Tnks1bp1 T C 2: 84,901,360 (GRCm39) probably benign Het
Txndc11 T C 16: 10,906,052 (GRCm39) T493A probably benign Het
Usp17lb T A 7: 104,490,855 (GRCm39) Q23L possibly damaging Het
Vgf T C 5: 137,059,873 (GRCm39) F12L probably benign Het
Zfp13 G A 17: 23,795,602 (GRCm39) T323I probably damaging Het
Other mutations in Gca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Gca APN 2 62,520,787 (GRCm39) nonsense probably null
IGL02754:Gca APN 2 62,502,702 (GRCm39) missense probably benign
ANU05:Gca UTSW 2 62,520,787 (GRCm39) nonsense probably null
R2510: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
Predicted Primers PCR Primer
(F):5'- GTCAGCTATGTATGTATGCCTTGC -3'
(R):5'- TCAGTACCTAATGTCTCTGATACTGAG -3'

Sequencing Primer
(F):5'- TAGAGTGCTTGCCTCTGCTCAATG -3'
(R):5'- TCTAAGGCACTGAAATATGAAAGC -3'
Posted On 2015-02-18