Mutagenetix > Incidental Mutation

Incidental Mutation 'R2366:Ncapg2'

246346

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

040347-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116368969-116427152 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 116384349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 270 (W270*)

Ref Sequence

ENSEMBL: ENSMUSP00000081889 (fasta)

Gene Model

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

AlphaFold

Q6DFV1

Predicted Effect

probably null
Transcript: ENSMUST00000084828
AA Change: W270*

SMART Domains

Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: W270*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220608

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630091E08Rik	G	A	7: 98,192,949 (GRCm39)		noncoding transcript	Het
Adamts5	C	T	16: 85,659,646 (GRCm39)	G882D	probably damaging	Het
Arl6ip6	T	C	2: 53,082,379 (GRCm39)	V82A	probably benign	Het
Brd10	A	T	19: 29,731,035 (GRCm39)	I726N	probably damaging	Het
Cd38	T	G	5: 44,060,932 (GRCm39)		probably benign	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col6a6	C	A	9: 105,632,893 (GRCm39)	G1457V	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Cyp2d12	T	A	15: 82,439,355 (GRCm39)	L3Q	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Drc1	A	G	5: 30,523,894 (GRCm39)	*754W	probably null	Het
Erbin	G	A	13: 103,981,417 (GRCm39)	H503Y	probably damaging	Het
F3	G	A	3: 121,526,194 (GRCm39)		probably null	Het
Gm10033	A	T	8: 69,826,232 (GRCm39)	M112K	unknown	Het
Gps1	A	C	11: 120,678,945 (GRCm39)	I404L	probably damaging	Het
Hc	T	C	2: 34,903,648 (GRCm39)	N1002S	probably benign	Het
Impg2	T	C	16: 56,080,236 (GRCm39)	I571T	probably benign	Het
Knop1	C	A	7: 118,451,751 (GRCm39)	V323F	possibly damaging	Het
Kntc1	C	T	5: 123,919,255 (GRCm39)	L845F	probably damaging	Het
Lsm5	T	C	6: 56,680,003 (GRCm39)	D53G	probably damaging	Het
Lzts1	T	C	8: 69,593,257 (GRCm39)		probably null	Het
Matr3	A	T	18: 35,721,448 (GRCm39)	N473I	probably damaging	Het
Med1	A	G	11: 98,052,008 (GRCm39)	V452A	probably damaging	Het
Napsa	T	A	7: 44,231,909 (GRCm39)	D44E	probably damaging	Het
Nbeal1	T	C	1: 60,290,511 (GRCm39)	F1036S	probably damaging	Het
Nherf1	G	A	11: 115,054,454 (GRCm39)	V35M	probably benign	Het
Or5af1	C	A	11: 58,722,039 (GRCm39)	Q20K	probably benign	Het
Pik3ca	G	A	3: 32,516,943 (GRCm39)	W1057*	probably null	Het
Pkd1l2	A	T	8: 117,770,056 (GRCm39)	D1133E	probably benign	Het
Pramel39-ps	T	C	5: 94,450,972 (GRCm39)	K385E	probably benign	Het
Prox1	T	A	1: 189,894,079 (GRCm39)	E122V	probably damaging	Het
Rest	C	A	5: 77,416,034 (GRCm39)	H83N	probably benign	Het
Rundc3a	A	G	11: 102,288,491 (GRCm39)	I68V	probably damaging	Het
Stx6	A	T	1: 155,077,706 (GRCm39)	I238L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqln3	C	A	7: 103,790,256 (GRCm39)	Q611H	probably damaging	Het
Usp6nl	T	A	2: 6,445,770 (GRCm39)	H559Q	probably benign	Het
Vipr1	T	G	9: 121,494,250 (GRCm39)	V277G	probably benign	Het
Zfp101	A	T	17: 33,599,972 (GRCm39)	C595S	probably benign	Het
Zfp398	C	T	6: 47,840,143 (GRCm39)	T124I	possibly 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
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
R6016:Ncapg2	UTSW	12	116,390,227 (GRCm39)	missense	probably damaging	1.00
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'- TTCTGGGCCCATGTTGTCAG -3'
(R):5'- CCTCAATGACTCAGCCTGTC -3'

Sequencing Primer
(F):5'- CCCATGTTGTCAGGATTAGGGTAAC -3'
(R):5'- AGCCTGTCATACTTCTATCAGCATG -3'

Posted On

2014-10-30