Incidental Mutation 'R3966:Nucb2'
ID 312350
Institutional Source Beutler Lab
Gene Symbol Nucb2
Ensembl Gene ENSMUSG00000030659
Gene Name nucleobindin 2
Synonyms NEFA, nesfatin-1, Calnuc
MMRRC Submission 040935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R3966 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 116103604-116139819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116128110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 273 (E273G)
Ref Sequence ENSEMBL: ENSMUSP00000138741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032895] [ENSMUST00000183175]
AlphaFold P81117
Predicted Effect probably damaging
Transcript: ENSMUST00000032895
AA Change: E273G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032895
Gene: ENSMUSG00000030659
AA Change: E273G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
EFh 245 273 5.63e-1 SMART
EFh 297 325 6.56e0 SMART
coiled coil region 341 403 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183175
AA Change: E273G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138741
Gene: ENSMUSG00000030659
AA Change: E273G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
EFh 245 273 5.63e-1 SMART
EFh 297 325 6.56e0 SMART
coiled coil region 341 403 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000183335
AA Change: E21G
Meta Mutation Damage Score 0.5406 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutation of this gene results in decreased heart rate and increased serum alkaline phosphatase levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T C 1: 89,762,183 (GRCm39) I371T probably damaging Het
Brwd1 G A 16: 95,845,730 (GRCm39) T731I probably damaging Het
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
C3 A G 17: 57,525,664 (GRCm39) V864A probably damaging Het
Cadps A T 14: 12,522,161 (GRCm38) probably null Het
Cemip T A 7: 83,600,717 (GRCm39) Y968F probably benign Het
Ces1g C A 8: 94,055,139 (GRCm39) R186L possibly damaging Het
Chd2 A G 7: 73,114,143 (GRCm39) probably benign Het
Clptm1l T C 13: 73,764,091 (GRCm39) Y404H probably damaging Het
CN725425 T A 15: 91,126,890 (GRCm39) probably null Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
E330034G19Rik G T 14: 24,356,939 (GRCm39) M158I unknown Het
Ehbp1l1 C T 19: 5,760,601 (GRCm39) probably null Het
Gm14137 T A 2: 119,005,497 (GRCm39) S19T probably benign Het
Gpr141b A G 13: 19,913,614 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Inhbb C A 1: 119,345,291 (GRCm39) G333W probably damaging Het
Kcnb1 C T 2: 166,946,412 (GRCm39) C812Y probably damaging Het
Kdm4c A G 4: 74,216,820 (GRCm39) D193G probably damaging Het
Mbd5 A T 2: 49,162,082 (GRCm39) I855L possibly damaging Het
Mcpt1 G A 14: 56,256,503 (GRCm39) V80M probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Megf10 A G 18: 57,313,646 (GRCm39) D30G probably damaging Het
Ms4a6b T C 19: 11,499,098 (GRCm39) S71P probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Mycbp2 A G 14: 103,376,161 (GRCm39) probably benign Het
Myrf T C 19: 10,196,979 (GRCm39) E267G probably benign Het
Ncor1 T C 11: 62,235,583 (GRCm39) T624A probably damaging Het
Nfat5 G T 8: 108,093,921 (GRCm39) A721S possibly damaging Het
Nfatc2 C T 2: 168,346,469 (GRCm39) S875N probably benign Het
Npm1 C T 11: 33,110,350 (GRCm39) G148D probably benign Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Prkd1 C T 12: 50,439,724 (GRCm39) E368K probably benign Het
Ptgs2 T A 1: 149,981,226 (GRCm39) I503N probably damaging Het
Qrfpr A G 3: 36,235,149 (GRCm39) S243P possibly damaging Het
Safb2 T C 17: 56,882,356 (GRCm39) S426G probably null Het
Sos1 C T 17: 80,762,608 (GRCm39) R73H probably damaging Het
Spink10 T C 18: 62,790,975 (GRCm39) I87T probably damaging Het
Tet2 A G 3: 133,193,418 (GRCm39) S339P possibly damaging Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tmx4 T C 2: 134,441,981 (GRCm39) I206V possibly damaging Het
Tom1 A G 8: 75,785,867 (GRCm39) K360E probably benign Het
Trp73 A G 4: 154,146,493 (GRCm39) V422A probably benign Het
Vmn2r33 T C 7: 7,557,168 (GRCm39) M511V probably benign Het
Zfp628 T C 7: 4,924,744 (GRCm39) S989P probably benign Het
Other mutations in Nucb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Nucb2 APN 7 116,121,066 (GRCm39) splice site probably benign
IGL02347:Nucb2 APN 7 116,135,113 (GRCm39) missense probably benign 0.00
R0017:Nucb2 UTSW 7 116,132,386 (GRCm39) missense probably benign 0.01
R0017:Nucb2 UTSW 7 116,132,386 (GRCm39) missense probably benign 0.01
R0207:Nucb2 UTSW 7 116,135,245 (GRCm39) missense probably damaging 1.00
R0690:Nucb2 UTSW 7 116,135,086 (GRCm39) splice site probably benign
R1526:Nucb2 UTSW 7 116,123,642 (GRCm39) critical splice donor site probably null
R3964:Nucb2 UTSW 7 116,128,110 (GRCm39) missense probably damaging 1.00
R4154:Nucb2 UTSW 7 116,126,902 (GRCm39) missense probably benign 0.00
R4619:Nucb2 UTSW 7 116,127,059 (GRCm39) critical splice donor site probably null
R4705:Nucb2 UTSW 7 116,139,262 (GRCm39) critical splice donor site probably null
R4913:Nucb2 UTSW 7 116,123,540 (GRCm39) nonsense probably null
R4934:Nucb2 UTSW 7 116,139,199 (GRCm39) missense possibly damaging 0.93
R5210:Nucb2 UTSW 7 116,128,222 (GRCm39) missense probably damaging 1.00
R7227:Nucb2 UTSW 7 116,125,311 (GRCm39) missense probably damaging 1.00
R7776:Nucb2 UTSW 7 116,128,248 (GRCm39) missense probably damaging 1.00
R7899:Nucb2 UTSW 7 116,121,205 (GRCm39) missense probably benign 0.01
R8200:Nucb2 UTSW 7 116,132,398 (GRCm39) critical splice donor site probably null
R8743:Nucb2 UTSW 7 116,128,065 (GRCm39) missense probably damaging 1.00
R8818:Nucb2 UTSW 7 116,121,136 (GRCm39) missense possibly damaging 0.78
R8977:Nucb2 UTSW 7 116,128,063 (GRCm39) missense probably benign 0.05
R9072:Nucb2 UTSW 7 116,125,631 (GRCm39) missense probably damaging 1.00
R9182:Nucb2 UTSW 7 116,121,070 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CTGAGGCCTCATGAGAAAGC -3'
(R):5'- ACCTCACTCATGACGTGTTC -3'

Sequencing Primer
(F):5'- GCCTCATGAGAAAGCTGAAGCC -3'
(R):5'- ATGACGTGTTCTCTCATCCTGAG -3'
Posted On 2015-04-29