Mutagenetix > Incidental Mutation

Incidental Mutation 'R1526:Nucb2'

167436

Institutional Source

Beutler Lab

Gene Symbol

Nucb2

Ensembl Gene

ENSMUSG00000030659

Gene Name

nucleobindin 2

Synonyms

NEFA, nesfatin-1, Calnuc

MMRRC Submission

039566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R1526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116103604-116139819 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 116123642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138741 (fasta)

Gene Model

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

AlphaFold

P81117

Predicted Effect

probably null
Transcript: ENSMUST00000032895

SMART Domains

Protein: ENSMUSP00000032895
Gene: ENSMUSG00000030659

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 null
Transcript: ENSMUST00000183175

SMART Domains

Protein: ENSMUSP00000138741
Gene: ENSMUSG00000030659

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap2	G	T	12: 21,235,188 (GRCm39)	A97S	probably damaging	Het
Brd10	T	C	19: 29,712,545 (GRCm39)	K785E	probably damaging	Het
C1qtnf1	A	T	11: 118,334,616 (GRCm39)	E32V	possibly damaging	Het
Ccdc81	A	G	7: 89,525,081 (GRCm39)	L500P	probably damaging	Het
Cdo1	T	C	18: 46,861,130 (GRCm39)	E27G	probably benign	Het
Ceacam5	G	A	7: 17,484,620 (GRCm39)	G454D	probably damaging	Het
Cemip	T	C	7: 83,600,648 (GRCm39)	D991G	probably damaging	Het
Cep170	A	C	1: 176,616,071 (GRCm39)	I79S	probably damaging	Het
Cep19	A	G	16: 31,926,039 (GRCm39)	Q149R	possibly damaging	Het
Cideb	A	T	14: 55,992,619 (GRCm39)	L99*	probably null	Het
Cntnap5a	A	G	1: 116,356,207 (GRCm39)	N746S	probably benign	Het
Col12a1	T	C	9: 79,564,080 (GRCm39)	N1715S	probably benign	Het
Col3a1	T	C	1: 45,360,848 (GRCm39)	S93P	unknown	Het
Csmd3	C	A	15: 47,449,028 (GRCm39)		probably null	Het
Disp3	T	C	4: 148,344,373 (GRCm39)	I510V	probably benign	Het
Drosha	T	A	15: 12,914,070 (GRCm39)	V1115E	probably damaging	Het
Dzip3	A	C	16: 48,757,369 (GRCm39)	L888R	probably damaging	Het
Emx2	C	A	19: 59,452,442 (GRCm39)	A242E	probably benign	Het
Fto	G	A	8: 92,168,314 (GRCm39)	E256K	possibly damaging	Het
Gabrb2	A	C	11: 42,482,715 (GRCm39)	Y191S	possibly damaging	Het
Gm6526	A	T	14: 43,987,394 (GRCm39)	H110L	probably damaging	Het
Grin3b	T	A	10: 79,810,436 (GRCm39)	N647K	probably damaging	Het
Ifit2	T	G	19: 34,550,602 (GRCm39)	S47R	probably benign	Het
Il5ra	A	T	6: 106,712,781 (GRCm39)	V244E	possibly damaging	Het
Inppl1	A	G	7: 101,482,153 (GRCm39)	L141P	probably benign	Het
Iws1	A	G	18: 32,213,178 (GRCm39)	D202G	probably benign	Het
Kctd4	A	C	14: 76,200,523 (GRCm39)	I165L	probably benign	Het
Lrch3	G	A	16: 32,770,746 (GRCm39)	C116Y	probably damaging	Het
Mettl25	T	C	10: 105,668,844 (GRCm39)	T93A	possibly damaging	Het
Mgat4d	A	G	8: 84,095,666 (GRCm39)	I314V	probably benign	Het
Mrgprb4	A	T	7: 47,848,159 (GRCm39)	Y256*	probably null	Het
Myo9b	G	T	8: 71,808,408 (GRCm39)	V1672L	probably damaging	Het
Nek1	C	T	8: 61,502,975 (GRCm39)	P449L	probably benign	Het
Obscn	T	C	11: 58,919,412 (GRCm39)	Y6864C	probably damaging	Het
Omt2b	A	T	9: 78,235,420 (GRCm39)		probably benign	Het
Or2y3	T	A	17: 38,393,486 (GRCm39)	I128F	probably damaging	Het
Or4p18	C	T	2: 88,232,777 (GRCm39)	C167Y	probably damaging	Het
Or5ac15	G	A	16: 58,940,293 (GRCm39)	L47F	probably damaging	Het
Or6c208	A	G	10: 129,224,176 (GRCm39)	K225E	probably benign	Het
Otogl	G	T	10: 107,705,387 (GRCm39)	P647T	probably damaging	Het
Oxnad1	A	G	14: 31,824,244 (GRCm39)	D271G	probably benign	Het
Pbx3	T	C	2: 34,261,776 (GRCm39)	I53V	probably damaging	Het
Pds5b	T	A	5: 150,639,865 (GRCm39)		probably null	Het
Ppp4r3a	A	T	12: 101,007,000 (GRCm39)	D810E	probably damaging	Het
Ptpro	A	T	6: 137,438,724 (GRCm39)	D1189V	probably damaging	Het
Ryr3	T	C	2: 112,492,002 (GRCm39)	N3758S	probably damaging	Het
Scarb2	G	A	5: 92,594,200 (GRCm39)	T454M	possibly damaging	Het
Sec23a	A	C	12: 59,032,972 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,095,502 (GRCm39)	A535V	probably benign	Het
Svopl	A	T	6: 38,006,570 (GRCm39)	F142L	probably benign	Het
Tas2r144	T	C	6: 42,192,674 (GRCm39)	I138T	probably benign	Het
Tbc1d15	A	G	10: 115,039,135 (GRCm39)	M535T	probably benign	Het
Tnfaip1	C	T	11: 78,420,971 (GRCm39)	V30M	possibly damaging	Het
Topaz1	T	A	9: 122,625,108 (GRCm39)	W1398R	probably damaging	Het
Tpo	A	G	12: 30,134,694 (GRCm39)	S755P	probably damaging	Het
Ttn	G	T	2: 76,606,460 (GRCm39)	S18116R	probably damaging	Het
Vmn2r78	A	G	7: 86,571,465 (GRCm39)		probably null	Het
Wdr49	T	A	3: 75,304,227 (GRCm39)	K494M	probably benign	Het
Yeats2	A	G	16: 20,024,836 (GRCm39)	M697V	probably damaging	Het
Zfp407	G	A	18: 84,579,158 (GRCm39)	P652S	possibly damaging	Het
Zfp462	A	G	4: 55,009,002 (GRCm39)	M323V	probably benign	Het
Zfp629	G	T	7: 127,209,931 (GRCm39)	P626Q	possibly damaging	Het
Zfp804a	A	T	2: 82,088,532 (GRCm39)	Y787F	probably benign	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
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
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'- TGCCATTCTGCTAGGAGTTGCTTTC -3'
(R):5'- GCCTTTGCATGTTTGGTTCAGACAC -3'

Sequencing Primer
(F):5'- CAGGTCTTTCTGTTCAGACTAAGG -3'
(R):5'- GCTGGGAAGAATGACTTCCTC -3'

Posted On

2014-04-13