Incidental Mutation 'R6194:Gc'
ID502783
Institutional Source Beutler Lab
Gene Symbol Gc
Ensembl Gene ENSMUSG00000035540
Gene Namevitamin D binding protein
SynonymsDBP, vitamin D binding protein
MMRRC Submission 044334-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6194 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location89417522-89457898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89441579 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 197 (V197E)
Ref Sequence ENSEMBL: ENSMUSP00000046636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049209]
Predicted Effect probably benign
Transcript: ENSMUST00000049209
AA Change: V197E

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000046636
Gene: ENSMUSG00000035540
AA Change: V197E

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
ALBUMIN 17 202 6.82e-68 SMART
ALBUMIN 208 388 1.51e-51 SMART
Pfam:VitD-bind_III 405 469 7.2e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,104,035 I90V probably benign Het
5330417C22Rik T C 3: 108,465,779 I600V probably benign Het
Afap1l2 T A 19: 56,922,951 R370S probably damaging Het
Alcam A G 16: 52,268,398 Y537H probably damaging Het
Araf G T X: 20,860,100 R601L probably damaging Homo
Asap1 A G 15: 64,129,209 S508P probably damaging Het
Atg5 T C 10: 44,294,616 L86P probably damaging Het
Atp13a5 G A 16: 29,308,239 P502S probably damaging Het
AW209491 T A 13: 14,637,120 I186K possibly damaging Het
Baz1b T C 5: 135,243,890 Y1354H probably damaging Het
Card6 A T 15: 5,098,444 S1157T unknown Het
Chil6 A G 3: 106,404,876 probably null Het
Chrna1 A G 2: 73,570,472 V238A probably benign Het
Cluap1 A G 16: 3,929,906 S308G probably benign Het
Cntnap4 A G 8: 112,875,429 D1155G probably damaging Het
Cptp A G 4: 155,866,641 F123L probably damaging Het
Fbxw2 G A 2: 34,807,404 T317I probably damaging Het
Gusb C T 5: 129,990,065 V577M possibly damaging Het
Hectd1 A T 12: 51,748,445 N2400K probably damaging Het
Hnrnph1 T A 11: 50,383,277 D340E possibly damaging Het
Hs3st1 C A 5: 39,614,405 K298N probably damaging Het
Hunk A T 16: 90,496,395 T522S probably damaging Het
Ifit3 T C 19: 34,587,627 F191S probably benign Het
Ifnab T A 4: 88,691,125 K35* probably null Het
Ifnab G T 4: 88,691,126 N34K probably damaging Het
Ighmbp2 C A 19: 3,262,003 R917L possibly damaging Het
Igkv13-84 C T 6: 68,939,932 A71V possibly damaging Het
Lim2 T A 7: 43,435,662 C159S probably damaging Het
Lrrc56 T C 7: 141,205,651 Y147H probably damaging Het
Ltn1 A G 16: 87,415,810 L621P probably damaging Het
Mapk8ip1 C A 2: 92,389,244 G81C probably damaging Het
Mboat2 T A 12: 24,946,638 S213R probably benign Het
Mmel1 T A 4: 154,883,216 C99* probably null Het
Mrvi1 T C 7: 110,899,694 N377D probably damaging Het
Myo9a A G 9: 59,869,750 I1144V probably benign Het
Naa15 A G 3: 51,463,300 T612A probably benign Het
Naalad2 C T 9: 18,351,147 V362I probably benign Het
Nbeal1 A T 1: 60,257,484 I1178F possibly damaging Het
Nras C A 3: 103,058,953 A11E probably damaging Het
Olfr275 T A 4: 52,825,779 C127* probably null Het
Olfr681 G T 7: 105,122,170 V238L probably benign Het
Pcdhb7 A G 18: 37,342,146 T112A probably damaging Het
Peg10 C CCCATCAGGA 6: 4,756,351 probably benign Het
Pfkfb2 A G 1: 130,697,887 *519Q probably null Het
Prodh A T 16: 18,072,517 H515Q probably benign Het
Rbfox2 T C 15: 77,084,157 T435A possibly damaging Het
Rbks T C 5: 31,666,890 E87G probably benign Het
Scyl1 G T 19: 5,770,306 Q167K possibly damaging Het
Serpina3i T A 12: 104,266,503 D222E probably benign Het
Slc36a4 T A 9: 15,726,876 C199* probably null Het
Slx1b C T 7: 126,692,331 R187H possibly damaging Het
Stxbp5 A G 10: 9,817,339 F348L probably damaging Het
Tbc1d2 C T 4: 46,629,912 G252R probably benign Het
Tfpt A T 7: 3,629,027 L28Q probably damaging Het
Trap1 G A 16: 4,054,800 T335M possibly damaging Het
Zcchc2 T A 1: 105,991,117 F110I probably damaging Het
Zfp345 A T 2: 150,472,631 C329S probably damaging Het
Other mutations in Gc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Gc APN 5 89422122 splice site probably benign
IGL02408:Gc APN 5 89445396 missense probably benign
IGL02815:Gc APN 5 89457659 critical splice donor site probably null
R1689:Gc UTSW 5 89441200 critical splice donor site probably null
R2067:Gc UTSW 5 89446517 missense probably damaging 1.00
R2086:Gc UTSW 5 89438342 missense probably damaging 1.00
R4212:Gc UTSW 5 89435575 missense probably benign 0.01
R4459:Gc UTSW 5 89441287 missense probably benign 0.00
R4930:Gc UTSW 5 89439589 missense probably benign 0.00
R5598:Gc UTSW 5 89438450 critical splice acceptor site probably null
R5768:Gc UTSW 5 89441266 missense probably damaging 1.00
R6748:Gc UTSW 5 89435572 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTCCTTAAGGGCACAGCTC -3'
(R):5'- ATCCCTGGGACATGCTGTC -3'

Sequencing Primer
(F):5'- AGGGCACAGCTCTTTTCTAAC -3'
(R):5'- ACACACTAGCACATGCATTCTTTC -3'
Posted On2018-02-27