Mutagenetix > Incidental Mutations

Incidental Mutation 'R6026:Ncapg2'

480066

Institutional Source

Beutler Lab

Gene Symbol

Ncapg2

Ensembl Gene

ENSMUSG00000042029

Gene Name

non-SMC condensin II complex, subunit G2

Synonyms

Luzp5, 5830426I05Rik, mCAP-G2, Mtb

MMRRC Submission

044198-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116405402-116463731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116443021 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 939 (D939V)

Ref Sequence

ENSEMBL: ENSMUSP00000081889 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084828
AA Change: D939V

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: D939V

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

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,425,755	D187G	probably benign	Het
4933421I07Rik	A	T	7: 42,446,284	M180K	probably benign	Het
Aatk	T	C	11: 120,012,364	H345R	possibly damaging	Het
Abcc8	T	C	7: 46,167,000	T239A	probably benign	Het
Abcf3	A	G	16: 20,550,570	E234G	probably damaging	Het
Actrt2	T	C	4: 154,666,590	D363G	possibly damaging	Het
Adam1a	A	T	5: 121,519,362	C623S	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Barhl2	T	A	5: 106,455,608	K228N	probably benign	Het
Blvrb	A	G	7: 27,462,690	H153R	probably damaging	Het
Capn9	A	G	8: 124,605,862	D480G	probably damaging	Het
Cct3	T	C	3: 88,311,722	I182T	possibly damaging	Het
Clasp2	A	G	9: 113,911,578	N1208D	probably benign	Het
Col26a1	A	G	5: 136,847,500	C89R	probably damaging	Het
Cops4	T	A	5: 100,542,328		probably benign	Het
Cpox	T	A	16: 58,670,935	W170R	probably damaging	Het
Ddx27	A	G	2: 167,033,640	K656E	probably benign	Het
Eif4e	T	C	3: 138,550,900	I66T	probably damaging	Het
Ercc3	T	C	18: 32,245,921		probably null	Het
Esp38	G	A	17: 39,955,141	C47Y	probably damaging	Het
Fancd2	T	C	6: 113,551,770	V380A	possibly damaging	Het
Fbxw7	T	A	3: 84,952,641		probably null	Het
Fryl	T	G	5: 73,099,997	R736S	probably benign	Het
Gad2	G	A	2: 22,623,736	V62M	probably benign	Het
Gigyf2	A	G	1: 87,440,732	T1045A	probably damaging	Het
Gm13090	T	A	4: 151,090,700	L78*	probably null	Het
Gm19410	G	A	8: 35,812,426	S1815N	probably benign	Het
Gm28051	A	T	12: 102,720,185	L72Q	unknown	Het
Gm44511	T	C	6: 128,820,277	T83A	possibly damaging	Het
Grk2	C	T	19: 4,290,783	V246I	probably damaging	Het
Grm7	C	T	6: 111,501,539	Q62*	probably null	Het
Gsdmc3	T	A	15: 63,866,751	E154V	probably damaging	Het
Gstz1	A	C	12: 87,160,174	Q114P	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hhip	A	T	8: 79,972,440	C666S	probably damaging	Het
Hif1a	A	C	12: 73,932,281	H193P	probably damaging	Het
Hyal2	A	G	9: 107,572,199	T385A	probably benign	Het
Ihh	T	C	1: 74,946,727	T200A	probably benign	Het
Iqgap3	T	A	3: 88,090,171	V218E	probably damaging	Het
Lct	A	G	1: 128,300,018	I1246T	probably benign	Het
Lmo7	T	C	14: 101,880,990	V217A	probably benign	Het
Lrp1	C	T	10: 127,573,403	D1616N	probably damaging	Het
Lrrfip2	A	T	9: 111,214,171	T165S	probably damaging	Het
Morc2b	A	G	17: 33,137,983	Y272H	possibly damaging	Het
Muc16	A	G	9: 18,659,858	M455T	unknown	Het
Ncbp3	T	C	11: 73,067,722	V236A	probably benign	Het
Obscn	T	A	11: 59,067,090	T3595S	probably damaging	Het
Odf2l	T	C	3: 145,149,036	S545P	possibly damaging	Het
Olfr410	T	A	11: 74,335,088	I48F	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pdzrn3	A	C	6: 101,362,144	C269G	probably benign	Het
Pear1	T	A	3: 87,756,913	N278Y	probably damaging	Het
Phb	C	T	11: 95,671,419	R41*	probably null	Het
Pikfyve	T	C	1: 65,272,697	V2031A	probably damaging	Het
Plxna2	A	G	1: 194,799,814	I1465V	probably damaging	Het
Ppp6r2	A	G	15: 89,282,910	N776S	probably benign	Het
Prkce	A	T	17: 86,493,230	E358V	probably benign	Het
Prl5a1	A	T	13: 28,151,264	I219F	probably benign	Het
Prss3	T	C	6: 41,377,554		probably null	Het
Ptprc	A	T	1: 138,071,249	M858K	probably damaging	Het
Retreg3	T	C	11: 101,106,400	T85A	probably damaging	Het
Rfc2	T	A	5: 134,595,331	C265S	probably damaging	Het
Smarcd1	G	T	15: 99,705,738	V256L	probably damaging	Het
Stat5a	T	C	11: 100,880,316	F574L	probably damaging	Het
Tcirg1	T	C	19: 3,897,487	H624R	probably benign	Het
Tcstv1	C	A	13: 119,894,451		probably benign	Het
Tenm2	C	T	11: 36,072,729		probably null	Het
Tomm40	A	G	7: 19,710,964	V164A	probably benign	Het
Txnl4a	T	C	18: 80,207,267	V26A	probably damaging	Het
Ugt2a3	A	T	5: 87,336,477	F229L	probably benign	Het
Utp20	T	C	10: 88,768,679	T1785A	probably benign	Het
Vmn1r22	T	A	6: 57,900,405	I196L	probably benign	Het
Zfp652	T	G	11: 95,749,962	C238G	possibly damaging	Het

Other mutations in Ncapg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Ncapg2	APN	12	116424650	missense	possibly damaging	0.54
IGL01694:Ncapg2	APN	12	116407230	utr 5 prime	probably benign
IGL01724:Ncapg2	APN	12	116426711	missense	probably damaging	1.00
IGL01792:Ncapg2	APN	12	116425818	missense	probably damaging	0.99
IGL02098:Ncapg2	APN	12	116444332	missense	possibly damaging	0.59
IGL02136:Ncapg2	APN	12	116460583	missense	probably benign
IGL02409:Ncapg2	APN	12	116420717	missense	probably damaging	1.00
IGL02580:Ncapg2	APN	12	116420689	missense	probably damaging	1.00
IGL02653:Ncapg2	APN	12	116425906	critical splice donor site	probably null
IGL03073:Ncapg2	APN	12	116452274	missense	probably benign	0.01
IGL03114:Ncapg2	APN	12	116452373	splice site	probably benign
IGL03199:Ncapg2	APN	12	116419236	missense	probably damaging	1.00
IGL03328:Ncapg2	APN	12	116440057	missense	possibly damaging	0.90
P0033:Ncapg2	UTSW	12	116438635	missense	probably benign	0.03
R0008:Ncapg2	UTSW	12	116429835	missense	probably damaging	1.00
R0194:Ncapg2	UTSW	12	116420683	splice site	probably null
R0379:Ncapg2	UTSW	12	116443075	missense	probably damaging	1.00
R0568:Ncapg2	UTSW	12	116423215	missense	probably damaging	1.00
R0771:Ncapg2	UTSW	12	116413159	nonsense	probably null
R1016:Ncapg2	UTSW	12	116438675	missense	probably damaging	1.00
R1507:Ncapg2	UTSW	12	116460566	missense	probably benign	0.00
R1524:Ncapg2	UTSW	12	116434578	splice site	probably benign
R1596:Ncapg2	UTSW	12	116419236	missense	probably damaging	1.00
R1635:Ncapg2	UTSW	12	116434685	frame shift	probably null
R1752:Ncapg2	UTSW	12	116426718	missense	probably damaging	1.00
R2164:Ncapg2	UTSW	12	116450475	splice site	probably null
R2266:Ncapg2	UTSW	12	116429676	missense	probably damaging	1.00
R2366:Ncapg2	UTSW	12	116420729	nonsense	probably null
R2924:Ncapg2	UTSW	12	116438729	missense	probably benign	0.03
R2925:Ncapg2	UTSW	12	116438729	missense	probably benign	0.03
R3828:Ncapg2	UTSW	12	116407318	splice site	probably benign
R3829:Ncapg2	UTSW	12	116407318	splice site	probably benign
R4384:Ncapg2	UTSW	12	116439877	critical splice donor site	probably null
R4651:Ncapg2	UTSW	12	116425787	missense	probably damaging	1.00
R4701:Ncapg2	UTSW	12	116440618	missense	probably benign
R4821:Ncapg2	UTSW	12	116415457	missense	probably damaging	0.99
R4845:Ncapg2	UTSW	12	116440588	missense	probably damaging	0.96
R5135:Ncapg2	UTSW	12	116427786	missense	possibly damaging	0.64
R5294:Ncapg2	UTSW	12	116427794	missense	possibly damaging	0.54
R5334:Ncapg2	UTSW	12	116426637	missense	probably damaging	1.00
R5588:Ncapg2	UTSW	12	116413077	missense	possibly damaging	0.95
R5888:Ncapg2	UTSW	12	116425800	missense	possibly damaging	0.84
R5938:Ncapg2	UTSW	12	116429657	missense	probably damaging	1.00
R5978:Ncapg2	UTSW	12	116424671	missense	possibly damaging	0.68
R6016:Ncapg2	UTSW	12	116426607	missense	probably damaging	1.00
R6155:Ncapg2	UTSW	12	116438011	missense	possibly damaging	0.83
R6509:Ncapg2	UTSW	12	116427756	missense	probably damaging	1.00
R6675:Ncapg2	UTSW	12	116434661	missense	possibly damaging	0.71
R6912:Ncapg2	UTSW	12	116426582	missense	probably benign
R7069:Ncapg2	UTSW	12	116424717	splice site	probably null
R7339:Ncapg2	UTSW	12	116414834	missense	probably damaging	0.96
R7440:Ncapg2	UTSW	12	116450413	missense	possibly damaging	0.89
R7445:Ncapg2	UTSW	12	116419268	missense	possibly damaging	0.50
R7704:Ncapg2	UTSW	12	116419277	missense	probably damaging	1.00
R8061:Ncapg2	UTSW	12	116426577	missense	probably benign
R8132:Ncapg2	UTSW	12	116444347	missense	possibly damaging	0.93
R8166:Ncapg2	UTSW	12	116412416	missense	probably benign	0.00
X0020:Ncapg2	UTSW	12	116424707	missense	probably damaging	1.00
Z1177:Ncapg2	UTSW	12	116438605	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATAGGTTCTGCTATCCTGCC -3'
(R):5'- GGACAGCCACAGTCTCTATAC -3'

Sequencing Primer
(F):5'- CCTGCCATATACATATGTATTGAGC -3'
(R):5'- GTCTCTATACACATCTAACCCAGTCG -3'

Posted On

2017-06-26