Mutagenetix > Incidental Mutation

Incidental Mutation 'R6016:Ncapg2'

478607

Institutional Source

Beutler Lab

Gene Symbol

Ncapg2

Ensembl Gene

ENSMUSG00000042029

Gene Name

non-SMC condensin II complex, subunit G2

Synonyms

5830426I05Rik, Mtb, mCAP-G2, Luzp5

MMRRC Submission

043255-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116368969-116427152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116390227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 392 (R392H)

Ref Sequence

ENSEMBL: ENSMUSP00000081889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084828]

AlphaFold

Q6DFV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000084828
AA Change: R392H

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

SMART Domains

Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: R392H

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Condensin2nSMC	212	361	7.2e-62	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

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 that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null embryos exhibit impaired inner cell mass expansion and die shortly after implantation and prior to gastrulation and blood cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	C	15: 77,620,058 (GRCm39)	S285P	probably damaging	Het
Casz1	C	A	4: 149,019,041 (GRCm39)	N447K	probably damaging	Het
Cltb	T	C	13: 54,754,480 (GRCm39)	T71A	possibly damaging	Het
Dcaf12	A	G	4: 41,313,267 (GRCm39)	F93L	probably damaging	Het
Dnah5	T	C	15: 28,328,030 (GRCm39)	Y2135H	probably damaging	Het
Entpd2	C	T	2: 25,288,568 (GRCm39)	R191W	probably damaging	Het
Gm17067	G	T	7: 42,357,654 (GRCm39)	P283T	probably benign	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gne	T	C	4: 44,039,063 (GRCm39)	E532G	probably damaging	Het
Gsdmc3	T	G	15: 63,740,261 (GRCm39)	D86A	probably benign	Het
Hs3st2	A	G	7: 121,099,922 (GRCm39)	H256R	probably damaging	Het
Il19	T	A	1: 130,863,718 (GRCm39)	D16V	probably damaging	Het
Lats2	A	T	14: 57,971,632 (GRCm39)	N14K	probably damaging	Het
Mill2	G	T	7: 18,590,373 (GRCm39)	S151I	probably benign	Het
Nop56	T	C	2: 130,118,545 (GRCm39)		probably null	Het
Or14j8	A	T	17: 38,262,967 (GRCm39)	V316D	probably benign	Het
Or2bd2	A	T	7: 6,443,613 (GRCm39)	H238L	probably benign	Het
Or5p5	A	T	7: 107,414,219 (GRCm39)	I143F	probably benign	Het
Pde1a	T	C	2: 79,695,406 (GRCm39)	R446G	probably benign	Het
Pes1	T	A	11: 3,928,004 (GRCm39)	M552K	possibly damaging	Het
Plxnb2	T	A	15: 89,045,225 (GRCm39)	T1074S	possibly damaging	Het
Psg23	G	T	7: 18,346,112 (GRCm39)	H194Q	probably benign	Het
Rprd2	A	G	3: 95,694,685 (GRCm39)	V116A	probably damaging	Het
Shkbp1	A	G	7: 27,053,826 (GRCm39)	V124A	possibly damaging	Het
Slc38a8	A	T	8: 120,221,044 (GRCm39)		probably null	Het
Slitrk6	A	G	14: 110,987,958 (GRCm39)	V583A	probably benign	Het
Sptbn5	G	T	2: 119,880,573 (GRCm39)		noncoding transcript	Het
Stab1	A	T	14: 30,880,950 (GRCm39)	I614N	probably damaging	Het
Tgm6	A	G	2: 129,983,148 (GRCm39)	T246A	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,734 (GRCm39)	L187P	probably damaging	Het
Vmn1r157	A	G	7: 22,461,272 (GRCm39)	R51G	possibly damaging	Het
Vmn2r68	A	T	7: 84,871,453 (GRCm39)	I610K	probably damaging	Het

Other mutations in Ncapg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Ncapg2	APN	12	116,388,270 (GRCm39)	missense	possibly damaging	0.54
IGL01694:Ncapg2	APN	12	116,370,850 (GRCm39)	utr 5 prime	probably benign
IGL01724:Ncapg2	APN	12	116,390,331 (GRCm39)	missense	probably damaging	1.00
IGL01792:Ncapg2	APN	12	116,389,438 (GRCm39)	missense	probably damaging	0.99
IGL02098:Ncapg2	APN	12	116,407,952 (GRCm39)	missense	possibly damaging	0.59
IGL02136:Ncapg2	APN	12	116,424,203 (GRCm39)	missense	probably benign
IGL02409:Ncapg2	APN	12	116,384,337 (GRCm39)	missense	probably damaging	1.00
IGL02580:Ncapg2	APN	12	116,384,309 (GRCm39)	missense	probably damaging	1.00
IGL02653:Ncapg2	APN	12	116,389,526 (GRCm39)	critical splice donor site	probably null
IGL03073:Ncapg2	APN	12	116,415,894 (GRCm39)	missense	probably benign	0.01
IGL03114:Ncapg2	APN	12	116,415,993 (GRCm39)	splice site	probably benign
IGL03199:Ncapg2	APN	12	116,382,856 (GRCm39)	missense	probably damaging	1.00
IGL03328:Ncapg2	APN	12	116,403,677 (GRCm39)	missense	possibly damaging	0.90
P0033:Ncapg2	UTSW	12	116,402,255 (GRCm39)	missense	probably benign	0.03
R0008:Ncapg2	UTSW	12	116,393,455 (GRCm39)	missense	probably damaging	1.00
R0194:Ncapg2	UTSW	12	116,384,303 (GRCm39)	splice site	probably null
R0379:Ncapg2	UTSW	12	116,406,695 (GRCm39)	missense	probably damaging	1.00
R0568:Ncapg2	UTSW	12	116,386,835 (GRCm39)	missense	probably damaging	1.00
R0771:Ncapg2	UTSW	12	116,376,779 (GRCm39)	nonsense	probably null
R1016:Ncapg2	UTSW	12	116,402,295 (GRCm39)	missense	probably damaging	1.00
R1507:Ncapg2	UTSW	12	116,424,186 (GRCm39)	missense	probably benign	0.00
R1524:Ncapg2	UTSW	12	116,398,198 (GRCm39)	splice site	probably benign
R1596:Ncapg2	UTSW	12	116,382,856 (GRCm39)	missense	probably damaging	1.00
R1635:Ncapg2	UTSW	12	116,398,305 (GRCm39)	frame shift	probably null
R1752:Ncapg2	UTSW	12	116,390,338 (GRCm39)	missense	probably damaging	1.00
R2164:Ncapg2	UTSW	12	116,414,095 (GRCm39)	splice site	probably null
R2266:Ncapg2	UTSW	12	116,393,296 (GRCm39)	missense	probably damaging	1.00
R2366:Ncapg2	UTSW	12	116,384,349 (GRCm39)	nonsense	probably null
R2924:Ncapg2	UTSW	12	116,402,349 (GRCm39)	missense	probably benign	0.03
R2925:Ncapg2	UTSW	12	116,402,349 (GRCm39)	missense	probably benign	0.03
R3828:Ncapg2	UTSW	12	116,370,938 (GRCm39)	splice site	probably benign
R3829:Ncapg2	UTSW	12	116,370,938 (GRCm39)	splice site	probably benign
R4384:Ncapg2	UTSW	12	116,403,497 (GRCm39)	critical splice donor site	probably null
R4651:Ncapg2	UTSW	12	116,389,407 (GRCm39)	missense	probably damaging	1.00
R4701:Ncapg2	UTSW	12	116,404,238 (GRCm39)	missense	probably benign
R4821:Ncapg2	UTSW	12	116,379,077 (GRCm39)	missense	probably damaging	0.99
R4845:Ncapg2	UTSW	12	116,404,208 (GRCm39)	missense	probably damaging	0.96
R5135:Ncapg2	UTSW	12	116,391,406 (GRCm39)	missense	possibly damaging	0.64
R5294:Ncapg2	UTSW	12	116,391,414 (GRCm39)	missense	possibly damaging	0.54
R5334:Ncapg2	UTSW	12	116,390,257 (GRCm39)	missense	probably damaging	1.00
R5588:Ncapg2	UTSW	12	116,376,697 (GRCm39)	missense	possibly damaging	0.95
R5888:Ncapg2	UTSW	12	116,389,420 (GRCm39)	missense	possibly damaging	0.84
R5938:Ncapg2	UTSW	12	116,393,277 (GRCm39)	missense	probably damaging	1.00
R5978:Ncapg2	UTSW	12	116,388,291 (GRCm39)	missense	possibly damaging	0.68
R6026:Ncapg2	UTSW	12	116,406,641 (GRCm39)	missense	possibly damaging	0.73
R6155:Ncapg2	UTSW	12	116,401,631 (GRCm39)	missense	possibly damaging	0.83
R6509:Ncapg2	UTSW	12	116,391,376 (GRCm39)	missense	probably damaging	1.00
R6675:Ncapg2	UTSW	12	116,398,281 (GRCm39)	missense	possibly damaging	0.71
R6912:Ncapg2	UTSW	12	116,390,202 (GRCm39)	missense	probably benign
R7069:Ncapg2	UTSW	12	116,388,337 (GRCm39)	splice site	probably null
R7339:Ncapg2	UTSW	12	116,378,454 (GRCm39)	missense	probably damaging	0.96
R7440:Ncapg2	UTSW	12	116,414,033 (GRCm39)	missense	possibly damaging	0.89
R7445:Ncapg2	UTSW	12	116,382,888 (GRCm39)	missense	possibly damaging	0.50
R7704:Ncapg2	UTSW	12	116,382,897 (GRCm39)	missense	probably damaging	1.00
R8061:Ncapg2	UTSW	12	116,390,197 (GRCm39)	missense	probably benign
R8132:Ncapg2	UTSW	12	116,407,967 (GRCm39)	missense	possibly damaging	0.93
R8166:Ncapg2	UTSW	12	116,376,036 (GRCm39)	missense	probably benign	0.00
R8351:Ncapg2	UTSW	12	116,403,647 (GRCm39)	missense	possibly damaging	0.80
R8526:Ncapg2	UTSW	12	116,403,679 (GRCm39)	missense	probably benign	0.00
R8692:Ncapg2	UTSW	12	116,414,049 (GRCm39)	missense	probably damaging	1.00
R8739:Ncapg2	UTSW	12	116,379,098 (GRCm39)	missense	possibly damaging	0.75
R8766:Ncapg2	UTSW	12	116,390,356 (GRCm39)	missense	probably damaging	1.00
R8929:Ncapg2	UTSW	12	116,415,983 (GRCm39)	missense	probably damaging	1.00
R9046:Ncapg2	UTSW	12	116,376,145 (GRCm39)	missense	probably benign	0.01
R9187:Ncapg2	UTSW	12	116,402,287 (GRCm39)	missense	probably damaging	1.00
R9344:Ncapg2	UTSW	12	116,388,273 (GRCm39)	missense	probably damaging	1.00
R9444:Ncapg2	UTSW	12	116,370,863 (GRCm39)	missense	probably damaging	1.00
R9580:Ncapg2	UTSW	12	116,424,228 (GRCm39)	missense	probably damaging	1.00
R9634:Ncapg2	UTSW	12	116,379,077 (GRCm39)	missense	probably damaging	0.99
R9749:Ncapg2	UTSW	12	116,411,368 (GRCm39)	nonsense	probably null
X0020:Ncapg2	UTSW	12	116,388,327 (GRCm39)	missense	probably damaging	1.00
Z1177:Ncapg2	UTSW	12	116,402,225 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGAGACACTGGACTGCGTG -3'
(R):5'- CAGTGTCATTTTGTCCACTGAGTAGG -3'

Sequencing Primer
(F):5'- AGACACTGGACTGCGTGGTTAC -3'
(R):5'- CCCCTTGTATTTCCTACAAAATCC -3'

Posted On

2017-06-26