Mutagenetix > Incidental Mutation

Incidental Mutation 'R0017:Nucb2'

19351

Institutional Source

Beutler Lab

Gene Symbol

Nucb2

Ensembl Gene

ENSMUSG00000030659

Gene Name

nucleobindin 2

Synonyms

NEFA, nesfatin-1, Calnuc

MMRRC Submission

038312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R0017 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

116103604-116139819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116132386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 331 (D331G)

Ref Sequence

ENSEMBL: ENSMUSP00000032895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032895] [ENSMUST00000183175]

AlphaFold

P81117

Predicted Effect

probably benign
Transcript: ENSMUST00000032895
AA Change: D331G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032895
Gene: ENSMUSG00000030659
AA Change: D331G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000183175
AA Change: D331G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000138741
Gene: ENSMUSG00000030659
AA Change: D331G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000183335

Meta Mutation Damage Score

0.1330

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.2%

Validation Efficiency

96% (76/79)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,226,938 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,242,775 (GRCm39)	I1546N	probably damaging	Het
Actrt3	A	T	3: 30,652,422 (GRCm39)	M224K	probably benign	Het
Adgrv1	T	C	13: 81,727,065 (GRCm39)	N429S	probably benign	Het
Appbp2	A	C	11: 85,105,129 (GRCm39)	C146G	possibly damaging	Het
Cabp2	A	C	19: 4,136,242 (GRCm39)	D83A	possibly damaging	Het
Ccl1	A	G	11: 82,068,843 (GRCm39)		probably null	Het
Cdca8	T	C	4: 124,814,168 (GRCm39)	T208A	probably benign	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Dcdc5	G	A	2: 106,187,541 (GRCm39)		noncoding transcript	Het
Efr3b	C	A	12: 4,043,003 (GRCm39)	C89F	probably damaging	Het
Enpp3	C	T	10: 24,675,051 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,821,395 (GRCm39)	V2467E	probably damaging	Het
Ermap	T	C	4: 119,037,145 (GRCm39)		probably benign	Het
Fig4	A	G	10: 41,149,003 (GRCm39)	Y150H	possibly damaging	Het
Fsip2	G	A	2: 82,822,416 (GRCm39)	V6050M	probably damaging	Het
Gnb1l	T	C	16: 18,359,810 (GRCm39)	W72R	probably damaging	Het
Gpld1	A	G	13: 25,174,101 (GRCm39)	D842G	probably damaging	Het
Hmgcr	A	G	13: 96,788,597 (GRCm39)		probably benign	Het
Hrc	A	G	7: 44,985,794 (GRCm39)	H315R	possibly damaging	Het
Ifit2	A	T	19: 34,550,973 (GRCm39)	N171I	probably damaging	Het
Ipo11	T	A	13: 107,023,238 (GRCm39)	I416L	probably benign	Het
Kcnab1	G	A	3: 65,264,527 (GRCm39)	V259M	probably damaging	Het
Kcng4	T	C	8: 120,360,259 (GRCm39)	Y39C	probably damaging	Het
Kif5c	A	G	2: 49,622,725 (GRCm39)	T526A	probably benign	Het
Kntc1	A	G	5: 123,919,044 (GRCm39)	Y805C	probably damaging	Het
Mal	A	G	2: 127,482,227 (GRCm39)	S59P	probably damaging	Het
Myh15	A	G	16: 48,983,423 (GRCm39)	N1513D	probably damaging	Het
Ncoa2	A	G	1: 13,244,976 (GRCm39)	L574P	probably damaging	Het
Nmd3	A	G	3: 69,643,425 (GRCm39)		probably null	Het
Nwd1	T	C	8: 73,436,053 (GRCm39)		probably benign	Het
Nynrin	T	C	14: 56,109,852 (GRCm39)	F1653S	probably damaging	Het
Or4a80	A	C	2: 89,582,365 (GRCm39)	I269S	possibly damaging	Het
Or7c19	T	A	8: 85,957,706 (GRCm39)	I194N	probably benign	Het
Or8b12b	T	G	9: 37,684,274 (GRCm39)	F106L	probably benign	Het
Pfdn6	T	C	17: 34,158,538 (GRCm39)	R79G	probably damaging	Het
Pkd1	G	T	17: 24,797,513 (GRCm39)		probably null	Het
Pramel4	T	G	4: 143,794,914 (GRCm39)	C434G	probably benign	Het
Ptpn13	T	C	5: 103,634,638 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,393,825 (GRCm39)	V831A	probably benign	Het
Rabl6	A	T	2: 25,492,579 (GRCm39)		probably benign	Het
Reg3b	T	A	6: 78,349,844 (GRCm39)	M128K	possibly damaging	Het
Rif1	A	G	2: 52,006,686 (GRCm39)	T2207A	probably benign	Het
Rpa1	A	C	11: 75,205,687 (GRCm39)	N223K	probably null	Het
Rras2	T	C	7: 113,647,490 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,746,967 (GRCm39)	E3760V	probably damaging	Het
Scyl3	T	A	1: 163,767,538 (GRCm39)	I204N	possibly damaging	Het
Serpinb9h	A	C	13: 33,588,494 (GRCm39)	I360L	probably damaging	Het
Slc16a12	A	G	19: 34,650,098 (GRCm39)		probably benign	Het
Slc22a1	A	G	17: 12,878,646 (GRCm39)	F356L	probably damaging	Het
Slc22a29	A	G	19: 8,195,630 (GRCm39)		probably benign	Het
Slc45a1	C	A	4: 150,714,023 (GRCm39)	D741Y	possibly damaging	Het
Slco1a5	A	T	6: 142,182,061 (GRCm39)		probably benign	Het
Smg5	G	T	3: 88,258,412 (GRCm39)	R461L	probably damaging	Het
Snrk	T	C	9: 121,995,306 (GRCm39)	S362P	probably damaging	Het
Spata31d1b	A	G	13: 59,863,883 (GRCm39)	S344G	probably benign	Het
Sync	G	A	4: 129,187,537 (GRCm39)	V190M	probably damaging	Het
Taf5l	T	C	8: 124,730,383 (GRCm39)	Y67C	probably damaging	Het
Tbkbp1	A	G	11: 97,037,115 (GRCm39)		probably benign	Het
Tshr	A	T	12: 91,504,660 (GRCm39)	I533F	possibly damaging	Het
Tsn	T	C	1: 118,228,589 (GRCm39)	D211G	probably damaging	Het
Ttn	G	A	2: 76,621,988 (GRCm39)	T15518I	probably benign	Het
Unc13c	T	C	9: 73,600,583 (GRCm39)	D1387G	probably benign	Het
Vapb	A	G	2: 173,613,397 (GRCm39)	T99A	probably benign	Het
Vmn2r127	A	G	17: 19,373,879 (GRCm39)		noncoding transcript	Het
Zfp280d	A	T	9: 72,246,292 (GRCm39)		probably null	Het

Other mutations in Nucb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R3966: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'- GCATATCCCCATGCCTGAGCAA -3'
(R):5'- AACGTTTTCCAAGGAGACAAGGAACTATT -3'

Sequencing Primer
(F):5'- CATATCAGGTAGATGGATAGCTTGC -3'
(R):5'- TAAAGCAGGACCCAATGGGA -3'

Posted On

2013-04-11