Mutagenetix > Incidental Mutation

Incidental Mutation 'R7227:Nucb2'

562226

Institutional Source

Beutler Lab

Gene Symbol

Nucb2

Ensembl Gene

ENSMUSG00000030659

Gene Name

nucleobindin 2

Synonyms

NEFA, nesfatin-1, Calnuc

MMRRC Submission

045299-MU

Accession Numbers

Essential gene?

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

Stock #

R7227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116103604-116139819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116125311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 123 (D123V)

Ref Sequence

ENSEMBL: ENSMUSP00000032895 (fasta)

Gene Model

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

AlphaFold

P81117

Predicted Effect

probably damaging
Transcript: ENSMUST00000032895
AA Change: D123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032895
Gene: ENSMUSG00000030659
AA Change: D123V

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 damaging
Transcript: ENSMUST00000183175
AA Change: D123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138741
Gene: ENSMUSG00000030659
AA Change: D123V

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,952,449 (GRCm39)	L344H	probably damaging	Het
Abcb1b	T	A	5: 8,875,593 (GRCm39)	S589T	probably damaging	Het
Acsm2	A	C	7: 119,190,556 (GRCm39)	I520L	probably benign	Het
Ap2a2	T	C	7: 141,200,784 (GRCm39)	Y544H	probably damaging	Het
Ascc1	T	A	10: 59,843,560 (GRCm39)	Y41N	probably benign	Het
Bend3	T	A	10: 43,387,401 (GRCm39)	L598Q	probably damaging	Het
Cfap74	T	G	4: 155,545,405 (GRCm39)	Y1108*	probably null	Het
Cxcl17	C	A	7: 25,102,319 (GRCm39)	R41S	probably damaging	Het
Cyp2c69	C	A	19: 39,869,610 (GRCm39)	M136I	possibly damaging	Het
Dnah2	A	G	11: 69,312,222 (GRCm39)	Y4370H	probably damaging	Het
Dzip3	T	A	16: 48,771,932 (GRCm39)	Q579L	probably damaging	Het
Enpp3	C	T	10: 24,693,742 (GRCm39)	M195I	unknown	Het
Esyt2	A	G	12: 116,305,745 (GRCm39)	D325G	probably damaging	Het
Fat1	T	G	8: 45,463,646 (GRCm39)	I1396S	probably benign	Het
Gigyf1	T	A	5: 137,522,085 (GRCm39)	I661K	unknown	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Hivep1	T	C	13: 42,310,387 (GRCm39)	S876P	probably benign	Het
Hk3	C	T	13: 55,160,053 (GRCm39)	R362H	probably benign	Het
Ier3ip1	T	A	18: 77,027,330 (GRCm39)	M53K	probably benign	Het
Klhl5	T	C	5: 65,298,631 (GRCm39)	S137P	probably benign	Het
Kremen2	G	T	17: 23,963,573 (GRCm39)	Y70*	probably null	Het
Lag3	C	T	6: 124,885,457 (GRCm39)	G308S	possibly damaging	Het
Mab21l4	G	T	1: 93,079,736 (GRCm39)	N451K	probably benign	Het
Map4k2	T	A	19: 6,396,624 (GRCm39)	L542Q	probably damaging	Het
Mef2d	G	A	3: 88,065,514 (GRCm39)		probably null	Het
Mkrn3	C	A	7: 62,069,415 (GRCm39)	R125S	probably benign	Het
Mpp3	T	A	11: 101,895,904 (GRCm39)	Y457F	possibly damaging	Het
Mrpl12	T	A	11: 120,379,178 (GRCm39)	I175N	probably damaging	Het
Mybbp1a	G	T	11: 72,338,585 (GRCm39)	K728N	possibly damaging	Het
Nfkb1	C	T	3: 135,332,420 (GRCm39)	V112M	probably damaging	Het
Or12j2	A	G	7: 139,915,534 (GRCm39)		probably benign	Het
Orc3	T	C	4: 34,572,542 (GRCm39)	T629A	probably benign	Het
Pdk1	T	A	2: 71,714,245 (GRCm39)	N218K	possibly damaging	Het
Plce1	A	G	19: 38,715,346 (GRCm39)	T1298A	probably benign	Het
Ppan	T	A	9: 20,799,496 (GRCm39)		probably benign	Het
Rap1gds1	C	T	3: 138,663,228 (GRCm39)	G373R	probably damaging	Het
Scn2a	A	C	2: 65,582,367 (GRCm39)	I1572L	probably damaging	Het
Sec16a	A	T	2: 26,328,935 (GRCm39)	Y1027N	probably benign	Het
Serpinb3a	T	A	1: 106,979,359 (GRCm39)	T48S	probably damaging	Het
Slc30a8	A	G	15: 52,195,032 (GRCm39)	M264V	probably benign	Het
Slc44a3	A	T	3: 121,303,879 (GRCm39)	C286S	possibly damaging	Het
Slc8a2	T	C	7: 15,878,906 (GRCm39)	I464T	possibly damaging	Het
Smco1	T	C	16: 32,092,833 (GRCm39)	M168T	possibly damaging	Het
Spns2	A	T	11: 72,349,513 (GRCm39)	Y246*	probably null	Het
Ssbp2	T	C	13: 91,823,244 (GRCm39)	M213T	probably benign	Het
Stk40	G	T	4: 126,017,559 (GRCm39)	A29S	probably benign	Het
Thrap3	A	T	4: 126,067,296 (GRCm39)	F683I	probably damaging	Het
Tmc5	A	G	7: 118,269,889 (GRCm39)	T880A	possibly damaging	Het
Trim38	T	A	13: 23,969,946 (GRCm39)	N168K	possibly damaging	Het
Ube2d1	T	A	10: 71,091,702 (GRCm39)	Y134F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,475 (GRCm39)	Y246*	probably null	Het
Vmn2r18	T	C	5: 151,496,264 (GRCm39)	T485A	probably damaging	Het
Wrn	T	A	8: 33,738,974 (GRCm39)	I1285F	probably damaging	Het
Xrcc1	C	A	7: 24,246,757 (GRCm39)	H8Q	probably damaging	Het
Zkscan4	T	C	13: 21,668,413 (GRCm39)	V317A	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
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
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'- TGTATCCAACTCAGTCAACCTATTACC -3'
(R):5'- ATTAACCTCTGGCTCTACACAC -3'

Sequencing Primer
(F):5'- CATGCAGTGTCCATAGATGTCAGC -3'
(R):5'- TCTACACACAGGCACATATGAGTGTG -3'

Posted On

2019-06-26