Mutagenetix > Incidental Mutation

Incidental Mutation 'R2924:Ncapg2'

255673

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

040509-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116368969-116427152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 116402349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 727 (T727K)

Ref Sequence

ENSEMBL: ENSMUSP00000081889 (fasta)

Gene Model

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

AlphaFold

Q6DFV1

Predicted Effect

probably benign
Transcript: ENSMUST00000084828
AA Change: T727K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: T727K

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

0.1202

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	G	3: 97,117,069 (GRCm39)	S542P	probably benign	Het
Cass4	A	G	2: 172,268,592 (GRCm39)	R225G	possibly damaging	Het
Ddx50	A	T	10: 62,463,373 (GRCm39)	V440E	probably damaging	Het
Dmrtc2	G	A	7: 24,571,941 (GRCm39)	C12Y	probably damaging	Het
Dock6	A	T	9: 21,720,926 (GRCm39)	I1693N	probably damaging	Het
Fuom	T	C	7: 139,679,862 (GRCm39)	T110A	probably benign	Het
Gli2	C	T	1: 118,764,089 (GRCm39)	R1354H	probably benign	Het
Gm5478	A	T	15: 101,552,229 (GRCm39)		probably null	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Il2rb	T	C	15: 78,376,049 (GRCm39)	M1V	probably null	Het
Ints6l	A	G	X: 55,550,196 (GRCm39)	E483G	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Man2b2	A	G	5: 36,981,446 (GRCm39)	F224L	probably benign	Het
Mrgpra1	G	A	7: 46,984,618 (GRCm39)		probably null	Het
Mtbp	G	A	15: 55,483,210 (GRCm39)	R429Q	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Nup214	A	G	2: 31,888,015 (GRCm39)	K15E	probably damaging	Het
Or1e34	A	G	11: 73,778,337 (GRCm39)	I287T	probably damaging	Het
Oxr1	T	C	15: 41,689,353 (GRCm39)	Y526H	probably benign	Het
Plec	A	G	15: 76,062,452 (GRCm39)	F2563S	probably damaging	Het
Prex2	A	G	1: 11,168,711 (GRCm39)	T236A	probably damaging	Het
Rbbp5	G	C	1: 132,420,401 (GRCm39)		probably null	Het
Slc24a2	A	G	4: 86,929,961 (GRCm39)	S512P	probably benign	Het
Srd5a1	A	G	13: 69,734,834 (GRCm39)	S191P	probably damaging	Het
Syt3	T	A	7: 44,045,222 (GRCm39)	V518E	probably damaging	Het
Tmem132e	T	C	11: 82,335,149 (GRCm39)	S652P	probably damaging	Het
Uba6	A	T	5: 86,307,130 (GRCm39)	V102D	probably damaging	Het
Unc13a	A	G	8: 72,097,596 (GRCm39)	V1158A	possibly damaging	Het
Upk3a	A	G	15: 84,902,350 (GRCm39)	Y59C	probably benign	Het
Zc3hav1	T	C	6: 38,331,045 (GRCm39)	Y38C	probably damaging	Het
Zfp119a	C	A	17: 56,175,343 (GRCm39)	D51Y	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
R2366:Ncapg2	UTSW	12	116,384,349 (GRCm39)	nonsense	probably null
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'- AACTATGAGGCCTGTGTTTCC -3'
(R):5'- GAGCACGTGTCATTGATTTCC -3'

Sequencing Primer
(F):5'- CCTTGATACAAATTAAGTGGGAGC -3'
(R):5'- CACTTTCCGTTTAGAGGCCAAG -3'

Posted On

2014-12-29