Incidental Mutation 'R4212:Gc'
ID 319239
Institutional Source Beutler Lab
Gene Symbol Gc
Ensembl Gene ENSMUSG00000035540
Gene Name vitamin D binding protein
Synonyms DBP, vitamin D binding protein
MMRRC Submission 041641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4212 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 89565381-89605757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89583434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 370 (K370E)
Ref Sequence ENSEMBL: ENSMUSP00000046636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049209]
AlphaFold P21614
Predicted Effect probably benign
Transcript: ENSMUST00000049209
AA Change: K370E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000046636
Gene: ENSMUSG00000035540
AA Change: K370E

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
Predicted Effect unknown
Transcript: ENSMUST00000200534
AA Change: K18E
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,791,585 (GRCm39) L284M possibly damaging Het
Adamts15 A G 9: 30,817,470 (GRCm39) V536A probably damaging Het
Arsi A T 18: 61,049,773 (GRCm39) I219F probably damaging Het
Atg7 G A 6: 114,680,386 (GRCm39) G447E probably benign Het
Bdp1 T A 13: 100,196,093 (GRCm39) H1223L probably benign Het
Cep152 A G 2: 125,461,921 (GRCm39) M87T probably benign Het
Chrm3 T C 13: 9,927,791 (GRCm39) D415G probably benign Het
Chrnb2 A T 3: 89,668,851 (GRCm39) C155S probably damaging Het
Col6a4 T A 9: 105,952,569 (GRCm39) Q443L probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
D5Ertd579e A T 5: 36,771,823 (GRCm39) D857E probably damaging Het
Efcab6 T C 15: 83,777,064 (GRCm39) D1124G probably damaging Het
F830045P16Rik C T 2: 129,302,273 (GRCm39) A440T probably benign Het
Gm11559 A G 11: 99,755,726 (GRCm39) Q125R unknown Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gucy2e A G 11: 69,118,949 (GRCm39) F681S probably damaging Het
Hip1r A G 5: 124,137,953 (GRCm39) I760V probably benign Het
Islr2 C T 9: 58,106,603 (GRCm39) G219D probably damaging Het
Itgae A G 11: 73,010,178 (GRCm39) H556R probably benign Het
Jag1 T C 2: 136,926,990 (GRCm39) D923G probably benign Het
Kmt2c A G 5: 25,552,357 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,884 (GRCm39) probably benign Het
Krtap17-1 A G 11: 99,884,740 (GRCm39) L9P unknown Het
Lats2 C T 14: 57,933,712 (GRCm39) D802N possibly damaging Het
Lrfn5 A T 12: 61,890,606 (GRCm39) T632S probably benign Het
Myo9a C T 9: 59,813,349 (GRCm39) R2183* probably null Het
Myorg T C 4: 41,498,307 (GRCm39) E441G probably benign Het
Naip1 T C 13: 100,563,383 (GRCm39) probably null Het
Nf1 T A 11: 79,360,624 (GRCm39) V1434E probably damaging Het
Nlrc4 T C 17: 74,754,110 (GRCm39) Y91C possibly damaging Het
Or4l1 A T 14: 50,166,346 (GRCm39) Y218* probably null Het
Or5b102 T G 19: 13,041,123 (GRCm39) M116R probably damaging Het
Or5k1 T A 16: 58,617,732 (GRCm39) H159L possibly damaging Het
Pard3 T A 8: 128,336,939 (GRCm39) I1143K probably benign Het
Pcdha7 A G 18: 37,108,027 (GRCm39) T351A probably benign Het
Phf2 C A 13: 48,974,089 (GRCm39) G318V unknown Het
Plch1 T A 3: 63,778,180 (GRCm39) probably benign Het
Polr1c A G 17: 46,557,046 (GRCm39) I79T probably damaging Het
Ppp2r5e A G 12: 75,516,325 (GRCm39) I244T probably damaging Het
Psmd12 T C 11: 107,376,585 (GRCm39) C74R probably damaging Het
Qng1 C T 13: 58,529,805 (GRCm39) G269E probably damaging Het
Ralgapa1 A G 12: 55,786,115 (GRCm39) probably null Het
Robo3 C T 9: 37,333,194 (GRCm39) G781D probably damaging Het
Scn8a T C 15: 100,854,954 (GRCm39) V147A possibly damaging Het
Sema3b C T 9: 107,480,597 (GRCm39) V117M probably damaging Het
Sfxn5 A T 6: 85,309,288 (GRCm39) L139* probably null Het
Slc2a12 A T 10: 22,577,993 (GRCm39) K596N probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Spata31e4 C T 13: 50,854,388 (GRCm39) T82I possibly damaging Het
Tlr4 T A 4: 66,758,563 (GRCm39) I452N probably damaging Het
Tshz3 A G 7: 36,469,544 (GRCm39) D511G probably damaging Het
Usp44 A G 10: 93,682,632 (GRCm39) K314E possibly damaging Het
Other mutations in Gc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Gc APN 5 89,569,981 (GRCm39) splice site probably benign
IGL02408:Gc APN 5 89,593,255 (GRCm39) missense probably benign
IGL02815:Gc APN 5 89,605,518 (GRCm39) critical splice donor site probably null
R1689:Gc UTSW 5 89,589,059 (GRCm39) critical splice donor site probably null
R2067:Gc UTSW 5 89,594,376 (GRCm39) missense probably damaging 1.00
R2086:Gc UTSW 5 89,586,201 (GRCm39) missense probably damaging 1.00
R4459:Gc UTSW 5 89,589,146 (GRCm39) missense probably benign 0.00
R4930:Gc UTSW 5 89,587,448 (GRCm39) missense probably benign 0.00
R5598:Gc UTSW 5 89,586,309 (GRCm39) critical splice acceptor site probably null
R5768:Gc UTSW 5 89,589,125 (GRCm39) missense probably damaging 1.00
R6194:Gc UTSW 5 89,589,438 (GRCm39) missense probably benign 0.27
R6748:Gc UTSW 5 89,583,431 (GRCm39) missense probably benign 0.00
R8376:Gc UTSW 5 89,586,118 (GRCm39) nonsense probably null
R8743:Gc UTSW 5 89,591,311 (GRCm39) missense probably benign
R8984:Gc UTSW 5 89,589,421 (GRCm39) critical splice donor site probably null
R9102:Gc UTSW 5 89,591,444 (GRCm39) missense probably benign 0.05
R9114:Gc UTSW 5 89,593,165 (GRCm39) missense possibly damaging 0.76
R9200:Gc UTSW 5 89,593,236 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACGACCCTATGCAAGGTATCAAC -3'
(R):5'- TGTCATTCTGCCTTTGTAGACCAG -3'

Sequencing Primer
(F):5'- ACATATATCCTGCTCTGCACAGTAG -3'
(R):5'- TGTAGACCAGAAACAAAGTATCATTC -3'
Posted On 2015-06-10