Mutagenetix > Incidental Mutation

Incidental Mutation 'R5978:Ncapg2'

481260

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

044160-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116368969-116427152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116388291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 325 (M325T)

Ref Sequence

ENSEMBL: ENSMUSP00000081889 (fasta)

Gene Model

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

AlphaFold

Q6DFV1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084828
AA Change: M325T

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: M325T

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: 99.7%
10x: 98.4%
20x: 95.6%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks6	T	A	4: 47,049,252 (GRCm39)	S218C	probably damaging	Het
Atp2c2	G	A	8: 120,476,614 (GRCm39)		probably null	Het
Ccdc146	T	G	5: 21,521,966 (GRCm39)	I353L	probably benign	Het
Cst3	A	T	2: 148,714,741 (GRCm39)	M112K	probably benign	Het
Cst3	T	G	2: 148,714,742 (GRCm39)	M112L	probably benign	Het
Cyp2j11	A	C	4: 96,207,589 (GRCm39)	L242R	probably damaging	Het
Eif5b	T	C	1: 38,037,361 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,224,209 (GRCm39)	I1253M	possibly damaging	Het
Fstl5	C	T	3: 76,052,392 (GRCm39)	H41Y	probably damaging	Het
Gm11011	T	C	2: 169,426,361 (GRCm39)	K84R	unknown	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Heatr5b	C	A	17: 79,113,465 (GRCm39)	V923F	probably damaging	Het
Hnrnpll	G	A	17: 80,341,620 (GRCm39)	T473M	probably damaging	Het
Iars1	T	A	13: 49,876,469 (GRCm39)	Y845N	probably damaging	Het
Il34	T	A	8: 111,469,317 (GRCm39)	D166V	probably damaging	Het
Kel	T	A	6: 41,664,979 (GRCm39)	H595L	probably benign	Het
Krt77	T	C	15: 101,771,363 (GRCm39)	I313M	probably benign	Het
Krt84	T	C	15: 101,438,665 (GRCm39)	E274G	probably damaging	Het
Mctp2	T	C	7: 71,739,936 (GRCm39)	Y818C	probably damaging	Het
Mrc1	A	T	2: 14,320,204 (GRCm39)	Y1046F	probably damaging	Het
Myom1	A	T	17: 71,424,438 (GRCm39)	D1429V	probably damaging	Het
Nf1	T	A	11: 79,431,245 (GRCm39)	I1902N	probably damaging	Het
Nkain3	A	T	4: 20,485,026 (GRCm39)		probably null	Het
Nlrc5	A	T	8: 95,215,221 (GRCm39)	N940Y	probably damaging	Het
Nlrp9a	T	A	7: 26,256,703 (GRCm39)	I107K	probably damaging	Het
Ntn5	T	C	7: 45,343,437 (GRCm39)	S328P	possibly damaging	Het
Or1j17	A	C	2: 36,578,694 (GRCm39)	K227Q	probably benign	Het
Parp8	A	C	13: 117,032,268 (GRCm39)	S302A	probably benign	Het
Ptgr2	G	T	12: 84,342,032 (GRCm39)	E27*	probably null	Het
Rnf115	T	A	3: 96,695,982 (GRCm39)	I256N	probably damaging	Het
Ryr3	T	A	2: 112,502,614 (GRCm39)	H3515L	probably benign	Het
Scel	A	G	14: 103,766,690 (GRCm39)		probably null	Het
Slc4a5	T	A	6: 83,254,518 (GRCm39)	S572T	probably benign	Het
Slc4a9	T	G	18: 36,668,456 (GRCm39)	I705S	probably damaging	Het
Spint4	C	T	2: 164,542,252 (GRCm39)	P101L	probably damaging	Het
Syt9	T	A	7: 107,035,620 (GRCm39)	D212E	probably benign	Het
Tmem39a	T	A	16: 38,411,392 (GRCm39)	M449K	probably benign	Het
Ttn	T	C	2: 76,639,143 (GRCm39)	T13877A	possibly damaging	Het
Ube2v2	T	C	16: 15,394,991 (GRCm39)	N20S	probably benign	Het
Vmn1r14	C	T	6: 57,210,929 (GRCm39)	S169F	probably benign	Het
Vps13d	T	C	4: 144,849,181 (GRCm39)	H2410R	probably benign	Het
Wdr81	G	A	11: 75,335,224 (GRCm39)	L1781F	probably damaging	Het
Zfp91	A	G	19: 12,747,515 (GRCm39)	I536T	probably benign	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
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'- TGGGGTAGAATAACCTTTCCTCTTG -3'
(R):5'- TTGTGCAAACCAAGACACCG -3'

Sequencing Primer
(F):5'- GAATAACCTTTCCTCTTGTTCCTGAG -3'
(R):5'- GACACCGATTTTCAGTGACTG -3'

Posted On

2017-06-26